value	description	codesystem	code	iri
Multiple epiphyseal dysplasia, Al-Gazali type	Multiple epiphyseal dysplasia, Al-Gazali type	Orphanet	166024	http://www.orpha.net/ORDO/Orphanet_166024
Alexander disease	Alexander disease	Orphanet	58	http://www.orpha.net/ORDO/Orphanet_58
Multiple epiphyseal dysplasia, with miniepiphyses	Multiple epiphyseal dysplasia, with miniepiphyses	Orphanet	166032	http://www.orpha.net/ORDO/Orphanet_166032
Alpha-mannosidosis	Alpha-mannosidosis	Orphanet	61	http://www.orpha.net/ORDO/Orphanet_61
Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia	Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia	Orphanet	166029	http://www.orpha.net/ORDO/Orphanet_166029
Metaphyseal chondrodysplasia, Kaitila type	Metaphyseal chondrodysplasia, Kaitila type	Orphanet	166038	http://www.orpha.net/ORDO/Orphanet_166038
Aspartylglucosaminuria	Aspartylglucosaminuria	Orphanet	93	http://www.orpha.net/ORDO/Orphanet_93
Brachydactyly-short stature-retinitis pigmentosa syndrome	Brachydactyly-short stature-retinitis pigmentosa syndrome	Orphanet	166035	http://www.orpha.net/ORDO/Orphanet_166035
Multiple sulfatase deficiency	Multiple sulfatase deficiency	Orphanet	585	http://www.orpha.net/ORDO/Orphanet_585
Beta-mannosidosis	Beta-mannosidosis	Orphanet	118	http://www.orpha.net/ORDO/Orphanet_118
Pontocerebellar hypoplasia type 5	Pontocerebellar hypoplasia type 5	Orphanet	166068	http://www.orpha.net/ORDO/Orphanet_166068
Canavan disease	Canavan disease	Orphanet	141	http://www.orpha.net/ORDO/Orphanet_141
Pontocerebellar hypoplasia type 4	Pontocerebellar hypoplasia type 4	Orphanet	166063	http://www.orpha.net/ORDO/Orphanet_166063
Von Willebrand disease type 1	Von Willebrand disease type 1	Orphanet	166078	http://www.orpha.net/ORDO/Orphanet_166078
NON RARE IN EUROPE: Crohn disease	NON RARE IN EUROPE: Crohn disease	Orphanet	206	http://www.orpha.net/ORDO/Orphanet_206
Pontocerebellar hypoplasia type 6	Pontocerebellar hypoplasia type 6	Orphanet	166073	http://www.orpha.net/ORDO/Orphanet_166073
Cystinosis	Cystinosis	Orphanet	213	http://www.orpha.net/ORDO/Orphanet_213
Von Willebrand disease type 2A	Von Willebrand disease type 2A	Orphanet	166084	http://www.orpha.net/ORDO/Orphanet_166084
Farber disease	Farber disease	Orphanet	333	http://www.orpha.net/ORDO/Orphanet_333
Von Willebrand disease type 2	Von Willebrand disease type 2	Orphanet	166081	http://www.orpha.net/ORDO/Orphanet_166081
Fucosidosis	Fucosidosis	Orphanet	349	http://www.orpha.net/ORDO/Orphanet_349
Von Willebrand disease type 2M	Von Willebrand disease type 2M	Orphanet	166090	http://www.orpha.net/ORDO/Orphanet_166090
Glycogen storage disease due to acid maltase deficiency	Glycogen storage disease due to acid maltase deficiency	Orphanet	365	http://www.orpha.net/ORDO/Orphanet_365
Von Willebrand disease type 2B	Von Willebrand disease type 2B	Orphanet	166087	http://www.orpha.net/ORDO/Orphanet_166087
Glycogen storage disease due to glycogen debranching enzyme deficiency	Glycogen storage disease due to glycogen debranching enzyme deficiency	Orphanet	366	http://www.orpha.net/ORDO/Orphanet_366
Von Willebrand disease type 2N	Von Willebrand disease type 2N	Orphanet	166093	http://www.orpha.net/ORDO/Orphanet_166093
Glycogen storage disease due to muscle glycogen phosphorylase deficiency	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	Orphanet	368	http://www.orpha.net/ORDO/Orphanet_368
Von Willebrand disease type 3	Von Willebrand disease type 3	Orphanet	166096	http://www.orpha.net/ORDO/Orphanet_166096
Glycogen storage disease due to glycogen branching enzyme deficiency	Glycogen storage disease due to glycogen branching enzyme deficiency	Orphanet	367	http://www.orpha.net/ORDO/Orphanet_367
Autosomal dominant otospondylomegaepiphyseal dysplasia	Autosomal dominant otospondylomegaepiphyseal dysplasia	Orphanet	166100	http://www.orpha.net/ORDO/Orphanet_166100
Glycogen storage disease due to muscle phosphofructokinase deficiency	Glycogen storage disease due to muscle phosphofructokinase deficiency	Orphanet	371	http://www.orpha.net/ORDO/Orphanet_371
FASTKD2-related infantile mitochondrial encephalomyopathy	FASTKD2-related infantile mitochondrial encephalomyopathy	Orphanet	166105	http://www.orpha.net/ORDO/Orphanet_166105
Glycogen storage disease due to liver glycogen phosphorylase deficiency	Glycogen storage disease due to liver glycogen phosphorylase deficiency	Orphanet	369	http://www.orpha.net/ORDO/Orphanet_369
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	Orphanet	447	http://www.orpha.net/ORDO/Orphanet_447
Intellectual disability, Birk-Barel type	Intellectual disability, Birk-Barel type	Orphanet	166108	http://www.orpha.net/ORDO/Orphanet_166108
Bazex syndrome	Bazex syndrome	Orphanet	166113	http://www.orpha.net/ORDO/Orphanet_166113
Rare cutaneous lupus erythematosus	Rare cutaneous lupus erythematosus	Orphanet	535	http://www.orpha.net/ORDO/Orphanet_535
Isolated osteopoikilosis	Isolated osteopoikilosis	Orphanet	166119	http://www.orpha.net/ORDO/Orphanet_166119
Krabbe disease	Krabbe disease	Orphanet	487	http://www.orpha.net/ORDO/Orphanet_487
Dentinogenesis imperfecta type 2	Dentinogenesis imperfecta type 2	Orphanet	166260	http://www.orpha.net/ORDO/Orphanet_166260
Dentinogenesis imperfecta type 3	Dentinogenesis imperfecta type 3	Orphanet	166265	http://www.orpha.net/ORDO/Orphanet_166265
Mucopolysaccharidosis type 6	Mucopolysaccharidosis type 6	Orphanet	583	http://www.orpha.net/ORDO/Orphanet_583
Odontochondrodysplasia	Odontochondrodysplasia	Orphanet	166272	http://www.orpha.net/ORDO/Orphanet_166272
Mucolipidosis type II	Mucolipidosis type II	Orphanet	576	http://www.orpha.net/ORDO/Orphanet_576
Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia	Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia	Orphanet	166277	http://www.orpha.net/ORDO/Orphanet_166277
Sialidosis type 1	Sialidosis type 1	Orphanet	812	http://www.orpha.net/ORDO/Orphanet_812
Familial sick sinus syndrome	Familial sick sinus syndrome	Orphanet	166282	http://www.orpha.net/ORDO/Orphanet_166282
Mucolipidosis type IV	Mucolipidosis type IV	Orphanet	578	http://www.orpha.net/ORDO/Orphanet_578
Porokeratotic eccrine ostial and dermal duct nevus	Porokeratotic eccrine ostial and dermal duct nevus	Orphanet	166286	http://www.orpha.net/ORDO/Orphanet_166286
Mucolipidosis type III	Mucolipidosis type III	Orphanet	577	http://www.orpha.net/ORDO/Orphanet_577
Dirofilariasis	Dirofilariasis	Orphanet	166291	http://www.orpha.net/ORDO/Orphanet_166291
Benign non-familial infantile seizures	Benign non-familial infantile seizures	Orphanet	166295	http://www.orpha.net/ORDO/Orphanet_166295
NON RARE IN EUROPE: Ulcerative colitis	NON RARE IN EUROPE: Ulcerative colitis	Orphanet	771	http://www.orpha.net/ORDO/Orphanet_771
Benign infantile focal epilepsy with midline spikes and waves during sleep	Benign infantile focal epilepsy with midline spikes and waves during sleep	Orphanet	166308	http://www.orpha.net/ORDO/Orphanet_166308
Benign infantile seizures associated with mild gastroenteritis	Benign infantile seizures associated with mild gastroenteritis	Orphanet	166305	http://www.orpha.net/ORDO/Orphanet_166305
Poliomyelitis	Poliomyelitis	Orphanet	2912	http://www.orpha.net/ORDO/Orphanet_2912
Benign partial epilepsy with secondarily generalized seizures in infancy	Benign partial epilepsy with secondarily generalized seizures in infancy	Orphanet	166302	http://www.orpha.net/ORDO/Orphanet_166302
Benign partial epilepsy of infancy with complex partial seizures	Benign partial epilepsy of infancy with complex partial seizures	Orphanet	166299	http://www.orpha.net/ORDO/Orphanet_166299
Sandhoff disease	Sandhoff disease	Orphanet	796	http://www.orpha.net/ORDO/Orphanet_796
Photosensitive epilepsy	Photosensitive epilepsy	Orphanet	166409	http://www.orpha.net/ORDO/Orphanet_166409
Scleroderma	Scleroderma	Orphanet	801	http://www.orpha.net/ORDO/Orphanet_801
Benign partial infantile seizures	Benign partial infantile seizures	Orphanet	166311	http://www.orpha.net/ORDO/Orphanet_166311
Recessive X-linked ichthyosis	Recessive X-linked ichthyosis	Orphanet	461	http://www.orpha.net/ORDO/Orphanet_461
Orgasm-induced seizures	Orgasm-induced seizures	Orphanet	166421	http://www.orpha.net/ORDO/Orphanet_166421
NON RARE IN EUROPE: Tourette syndrome	NON RARE IN EUROPE: Tourette syndrome	Orphanet	856	http://www.orpha.net/ORDO/Orphanet_856
Eating reflex epilepsy	Eating reflex epilepsy	Orphanet	166418	http://www.orpha.net/ORDO/Orphanet_166418
Audiogenic seizures	Audiogenic seizures	Orphanet	166415	http://www.orpha.net/ORDO/Orphanet_166415
Mucopolysaccharidosis type 7	Mucopolysaccharidosis type 7	Orphanet	584	http://www.orpha.net/ORDO/Orphanet_584
NON RARE IN EUROPE: Ankylosing spondylitis	NON RARE IN EUROPE: Ankylosing spondylitis	Orphanet	825	http://www.orpha.net/ORDO/Orphanet_825
Hot water reflex epilepsy	Hot water reflex epilepsy	Orphanet	166412	http://www.orpha.net/ORDO/Orphanet_166412
Reading seizures	Reading seizures	Orphanet	166433	http://www.orpha.net/ORDO/Orphanet_166433
Micturation-induced seizures	Micturation-induced seizures	Orphanet	166430	http://www.orpha.net/ORDO/Orphanet_166430
Turner syndrome	Turner syndrome	Orphanet	881	http://www.orpha.net/ORDO/Orphanet_881
Startle epilepsy	Startle epilepsy	Orphanet	166427	http://www.orpha.net/ORDO/Orphanet_166427
Thinking seizures	Thinking seizures	Orphanet	166424	http://www.orpha.net/ORDO/Orphanet_166424
Friedreich ataxia	Friedreich ataxia	Orphanet	95	http://www.orpha.net/ORDO/Orphanet_95
Neurocutaneous syndrome with epilepsy	Neurocutaneous syndrome with epilepsy	Orphanet	166466	http://www.orpha.net/ORDO/Orphanet_166466
Beta-thalassemia	Beta-thalassemia	Orphanet	848	http://www.orpha.net/ORDO/Orphanet_848
Chromosomal anomaly with epilepsy as a major feature	Chromosomal anomaly with epilepsy as a major feature	Orphanet	166469	http://www.orpha.net/ORDO/Orphanet_166469
Alpha-thalassemia	Alpha-thalassemia	Orphanet	846	http://www.orpha.net/ORDO/Orphanet_846
Cystic fibrosis	Cystic fibrosis	Orphanet	586	http://www.orpha.net/ORDO/Orphanet_586
Epilepsy syndrome	Epilepsy syndrome	Orphanet	166463	http://www.orpha.net/ORDO/Orphanet_166463
Duchenne and Becker muscular dystrophy	Duchenne and Becker muscular dystrophy	Orphanet	262	http://www.orpha.net/ORDO/Orphanet_262
Cerebral malformation with epilepsy	Cerebral malformation with epilepsy	Orphanet	166478	http://www.orpha.net/ORDO/Orphanet_166478
Metabolic diseases with epilepsy	Metabolic diseases with epilepsy	Orphanet	166481	http://www.orpha.net/ORDO/Orphanet_166481
Monogenic disease with epilepsy	Monogenic disease with epilepsy	Orphanet	166472	http://www.orpha.net/ORDO/Orphanet_166472
Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes	Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes	Orphanet	166475	http://www.orpha.net/ORDO/Orphanet_166475
Emery-Dreifuss muscular dystrophy	Emery-Dreifuss muscular dystrophy	Orphanet	261	http://www.orpha.net/ORDO/Orphanet_261
Infectious disease with epilepsy	Infectious disease with epilepsy	Orphanet	166490	http://www.orpha.net/ORDO/Orphanet_166490
Inflammatory and autoimmune disease with epilepsy	Inflammatory and autoimmune disease with epilepsy	Orphanet	166484	http://www.orpha.net/ORDO/Orphanet_166484
Cerebral diseases of vascular origin with epilepsy	Cerebral diseases of vascular origin with epilepsy	Orphanet	166487	http://www.orpha.net/ORDO/Orphanet_166487
MELAS	MELAS	Orphanet	550	http://www.orpha.net/ORDO/Orphanet_550
Facioscapulohumeral dystrophy	Facioscapulohumeral dystrophy	Orphanet	269	http://www.orpha.net/ORDO/Orphanet_269
Kearns-Sayre syndrome	Kearns-Sayre syndrome	Orphanet	480	http://www.orpha.net/ORDO/Orphanet_480
Classic paraneoplastic limbic encephalitis	Classic paraneoplastic limbic encephalitis	Orphanet	163898	http://www.orpha.net/ORDO/Orphanet_163898
Myofibrillar myopathy	Myofibrillar myopathy	Orphanet	593	http://www.orpha.net/ORDO/Orphanet_593
Paraneoplastic limbic encephalitis	Paraneoplastic limbic encephalitis	Orphanet	163895	http://www.orpha.net/ORDO/Orphanet_163895
Limbic encephalitis with LGI1 antibodies	Limbic encephalitis with LGI1 antibodies	Orphanet	163908	http://www.orpha.net/ORDO/Orphanet_163908
Limbic encephalitis associated with antibodies to cell membrane antigens	Limbic encephalitis associated with antibodies to cell membrane antigens	Orphanet	163903	http://www.orpha.net/ORDO/Orphanet_163903
MERRF	MERRF	Orphanet	551	http://www.orpha.net/ORDO/Orphanet_551
Central core disease	Central core disease	Orphanet	597	http://www.orpha.net/ORDO/Orphanet_597
Nemaline myopathy	Nemaline myopathy	Orphanet	607	http://www.orpha.net/ORDO/Orphanet_607
Limbic encephalitis	Limbic encephalitis	Orphanet	163892	http://www.orpha.net/ORDO/Orphanet_163892
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	Orphanet	163746	http://www.orpha.net/ORDO/Orphanet_163746
Paramyotonia congenita of Von Eulenburg	Paramyotonia congenita of Von Eulenburg	Orphanet	684	http://www.orpha.net/ORDO/Orphanet_684
Acrodermatitis continua of Hallopeau	Acrodermatitis continua of Hallopeau	Orphanet	163931	http://www.orpha.net/ORDO/Orphanet_163931
Steinert myotonic dystrophy	Steinert myotonic dystrophy	Orphanet	273	http://www.orpha.net/ORDO/Orphanet_273
Pustulosis palmaris et plantaris	Pustulosis palmaris et plantaris	Orphanet	163927	http://www.orpha.net/ORDO/Orphanet_163927
X-linked intellectual disability, Najm type	X-linked intellectual disability, Najm type	Orphanet	163937	http://www.orpha.net/ORDO/Orphanet_163937
Atopic keratoconjunctivitis	Atopic keratoconjunctivitis	Orphanet	163934	http://www.orpha.net/ORDO/Orphanet_163934
Non-paraneoplastic limbic encephalitis	Non-paraneoplastic limbic encephalitis	Orphanet	163918	http://www.orpha.net/ORDO/Orphanet_163918
Non-herpetic acute limbic encephalitis	Non-herpetic acute limbic encephalitis	Orphanet	163924	http://www.orpha.net/ORDO/Orphanet_163924
Thomsen and Becker disease	Thomsen and Becker disease	Orphanet	614	http://www.orpha.net/ORDO/Orphanet_614
Posttransplant acute limbic encephalitis	Posttransplant acute limbic encephalitis	Orphanet	163921	http://www.orpha.net/ORDO/Orphanet_163921
X-linked dominant chondrodysplasia, Chassaing-Lacombe type	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	Orphanet	163966	http://www.orpha.net/ORDO/Orphanet_163966
X-linked intellectual disability, Cilliers type	X-linked intellectual disability, Cilliers type	Orphanet	163971	http://www.orpha.net/ORDO/Orphanet_163971
X-linked intellectual disability, Van Esch type	X-linked intellectual disability, Van Esch type	Orphanet	163976	http://www.orpha.net/ORDO/Orphanet_163976
X-linked intellectual disability-craniofacioskeletal syndrome	X-linked intellectual disability-craniofacioskeletal syndrome	Orphanet	163979	http://www.orpha.net/ORDO/Orphanet_163979
X-linked intellectual disability, Raymond type	X-linked intellectual disability, Raymond type	Orphanet	163953	http://www.orpha.net/ORDO/Orphanet_163953
X-linked intellectual disability, Nascimento type	X-linked intellectual disability, Nascimento type	Orphanet	163956	http://www.orpha.net/ORDO/Orphanet_163956
X-linked cerebral-cerebellar-coloboma syndrome	X-linked cerebral-cerebellar-coloboma syndrome	Orphanet	163961	http://www.orpha.net/ORDO/Orphanet_163961
Middle ear anomaly	Middle ear anomaly	Orphanet	164004	http://www.orpha.net/ORDO/Orphanet_164004
Acute myeloid leukemia and myelodysplastic syndromes related to radiation	Acute myeloid leukemia and myelodysplastic syndromes related to radiation	Orphanet	164726	http://www.orpha.net/ORDO/Orphanet_164726
Fabry disease	Fabry disease	Orphanet	324	http://www.orpha.net/ORDO/Orphanet_324
X-linked intellectual disability-spastic quadriparesis syndrome	X-linked intellectual disability-spastic quadriparesis syndrome	Orphanet	163982	http://www.orpha.net/ORDO/Orphanet_163982
Hyperekplexia-epilepsy syndrome	Hyperekplexia-epilepsy syndrome	Orphanet	163985	http://www.orpha.net/ORDO/Orphanet_163985
Rett syndrome	Rett syndrome	Orphanet	778	http://www.orpha.net/ORDO/Orphanet_778
Rare odontal or periodontal disorder	Rare odontal or periodontal disorder	Orphanet	164001	http://www.orpha.net/ORDO/Orphanet_164001
Angelman syndrome	Angelman syndrome	Orphanet	72	http://www.orpha.net/ORDO/Orphanet_72
Genetic pancreatic disease	Genetic pancreatic disease	Orphanet	165661	http://www.orpha.net/ORDO/Orphanet_165661
Juvenile myoclonic epilepsy	Juvenile myoclonic epilepsy	Orphanet	307	http://www.orpha.net/ORDO/Orphanet_307
Genetic gastro-esophageal disease	Genetic gastro-esophageal disease	Orphanet	165658	http://www.orpha.net/ORDO/Orphanet_165658
Genetic intestinal disease	Genetic intestinal disease	Orphanet	165655	http://www.orpha.net/ORDO/Orphanet_165655
Rare genetic gastroenterological disease	Rare genetic gastroenterological disease	Orphanet	165652	http://www.orpha.net/ORDO/Orphanet_165652
Juvenile absence epilepsy	Juvenile absence epilepsy	Orphanet	1941	http://www.orpha.net/ORDO/Orphanet_1941
Von Hippel-Lindau disease	Von Hippel-Lindau disease	Orphanet	892	http://www.orpha.net/ORDO/Orphanet_892
Rare acquired aplastic anemia	Rare acquired aplastic anemia	Orphanet	164823	http://www.orpha.net/ORDO/Orphanet_164823
Autosomal recessive polycystic kidney disease	Autosomal recessive polycystic kidney disease	Orphanet	731	http://www.orpha.net/ORDO/Orphanet_731
Familial advanced sleep-phase syndrome	Familial advanced sleep-phase syndrome	Orphanet	164736	http://www.orpha.net/ORDO/Orphanet_164736
CHARGE syndrome	CHARGE syndrome	Orphanet	138	http://www.orpha.net/ORDO/Orphanet_138
Marfan syndrome	Marfan syndrome	Orphanet	558	http://www.orpha.net/ORDO/Orphanet_558
Familial mesial temporal lobe epilepsy with febrile seizures	Familial mesial temporal lobe epilepsy with febrile seizures	Orphanet	165805	http://www.orpha.net/ORDO/Orphanet_165805
Amyotrophic lateral sclerosis	Amyotrophic lateral sclerosis	Orphanet	803	http://www.orpha.net/ORDO/Orphanet_803
Rare abdominal surgical disease	Rare abdominal surgical disease	Orphanet	165711	http://www.orpha.net/ORDO/Orphanet_165711
NON RARE IN EUROPE: Multiple sclerosis	NON RARE IN EUROPE: Multiple sclerosis	Orphanet	802	http://www.orpha.net/ORDO/Orphanet_802
Syndromic urogenital tract malformation	Syndromic urogenital tract malformation	Orphanet	165707	http://www.orpha.net/ORDO/Orphanet_165707
Ataxia-telangiectasia	Ataxia-telangiectasia	Orphanet	100	http://www.orpha.net/ORDO/Orphanet_100
Non-syndromic urogenital tract malformation	Non-syndromic urogenital tract malformation	Orphanet	165704	http://www.orpha.net/ORDO/Orphanet_165704
Familial adenomatous polyposis	Familial adenomatous polyposis	Orphanet	733	http://www.orpha.net/ORDO/Orphanet_733
Huntington disease	Huntington disease	Orphanet	399	http://www.orpha.net/ORDO/Orphanet_399
Wound myiasis	Wound myiasis	Orphanet	165955	http://www.orpha.net/ORDO/Orphanet_165955
Lafora disease	Lafora disease	Orphanet	501	http://www.orpha.net/ORDO/Orphanet_501
Down syndrome	Down syndrome	Orphanet	870	http://www.orpha.net/ORDO/Orphanet_870
Cavitary myiasis	Cavitary myiasis	Orphanet	165958	http://www.orpha.net/ORDO/Orphanet_165958
Metachromatic leukodystrophy	Metachromatic leukodystrophy	Orphanet	512	http://www.orpha.net/ORDO/Orphanet_512
Multiple epiphyseal dysplasia, Beighton type	Multiple epiphyseal dysplasia, Beighton type	Orphanet	166011	http://www.orpha.net/ORDO/Orphanet_166011
22q11.2 deletion syndrome	22q11.2 deletion syndrome	Orphanet	567	http://www.orpha.net/ORDO/Orphanet_567
Multiple epiphyseal dysplasia, Lowry type	Multiple epiphyseal dysplasia, Lowry type	Orphanet	166016	http://www.orpha.net/ORDO/Orphanet_166016
Sickle cell anemia	Sickle cell anemia	Orphanet	232	http://www.orpha.net/ORDO/Orphanet_232
Pituitary resistance to thyroid hormone	Pituitary resistance to thyroid hormone	Orphanet	165994	http://www.orpha.net/ORDO/Orphanet_165994
Systemic lupus erythematosus	Systemic lupus erythematosus	Orphanet	536	http://www.orpha.net/ORDO/Orphanet_536
Multiple epiphyseal dysplasia due to collagen 9 anomaly	Multiple epiphyseal dysplasia due to collagen 9 anomaly	Orphanet	166002	http://www.orpha.net/ORDO/Orphanet_166002
Oculocerebrorenal syndrome of Lowe	Oculocerebrorenal syndrome of Lowe	Orphanet	534	http://www.orpha.net/ORDO/Orphanet_534
Diazoxide-resistant diffuse hyperinsulinism	Diazoxide-resistant diffuse hyperinsulinism	Orphanet	165988	http://www.orpha.net/ORDO/Orphanet_165988
Retinoblastoma	Retinoblastoma	Orphanet	790	http://www.orpha.net/ORDO/Orphanet_790
Exercise-induced hyperinsulinism	Exercise-induced hyperinsulinism	Orphanet	165991	http://www.orpha.net/ORDO/Orphanet_165991
Multiple endocrine neoplasia type 1	Multiple endocrine neoplasia type 1	Orphanet	652	http://www.orpha.net/ORDO/Orphanet_652
Diazoxide-sensitive diffuse hyperinsulinism	Diazoxide-sensitive diffuse hyperinsulinism	Orphanet	165985	http://www.orpha.net/ORDO/Orphanet_165985
Fragile X syndrome	Fragile X syndrome	Orphanet	908	http://www.orpha.net/ORDO/Orphanet_908
Rheumatic fever	Rheumatic fever	Orphanet	3099	http://www.orpha.net/ORDO/Orphanet_3099
Prader-Willi syndrome	Prader-Willi syndrome	Orphanet	739	http://www.orpha.net/ORDO/Orphanet_739
X-linked agammaglobulinemia	X-linked agammaglobulinemia	Orphanet	47	http://www.orpha.net/ORDO/Orphanet_47
Mucopolysaccharidosis type 2	Mucopolysaccharidosis type 2	Orphanet	580	http://www.orpha.net/ORDO/Orphanet_580
Mucopolysaccharidosis type 1	Mucopolysaccharidosis type 1	Orphanet	579	http://www.orpha.net/ORDO/Orphanet_579
Wilson disease	Wilson disease	Orphanet	905	http://www.orpha.net/ORDO/Orphanet_905
Non-syndromic cerebral malformation due to abnormal neuronal migration	Non-syndromic cerebral malformation due to abnormal neuronal migration	Orphanet	163209	http://www.orpha.net/ORDO/Orphanet_163209
X-linked retinoschisis	X-linked retinoschisis	Orphanet	792	http://www.orpha.net/ORDO/Orphanet_792
X-linked mixed deafness with perilymphatic gusher	X-linked mixed deafness with perilymphatic gusher	Orphanet	383	http://www.orpha.net/ORDO/Orphanet_383
Subacute cutaneous lupus erythematosus	Subacute cutaneous lupus erythematosus	Orphanet	163525	http://www.orpha.net/ORDO/Orphanet_163525
Stargardt disease	Stargardt disease	Orphanet	827	http://www.orpha.net/ORDO/Orphanet_827
Rare bacterial infectious disease	Rare bacterial infectious disease	Orphanet	163582	http://www.orpha.net/ORDO/Orphanet_163582
Chronic cutaneous lupus erythematosus	Chronic cutaneous lupus erythematosus	Orphanet	163531	http://www.orpha.net/ORDO/Orphanet_163531
Wiskott-Aldrich syndrome	Wiskott-Aldrich syndrome	Orphanet	906	http://www.orpha.net/ORDO/Orphanet_906
Williams syndrome	Williams syndrome	Orphanet	904	http://www.orpha.net/ORDO/Orphanet_904
Wolf-Hirschhorn syndrome	Wolf-Hirschhorn syndrome	Orphanet	280	http://www.orpha.net/ORDO/Orphanet_280
Isolated congenital nasal pyriform aperture stenosis	Isolated congenital nasal pyriform aperture stenosis	Orphanet	162516	http://www.orpha.net/ORDO/Orphanet_162516
Achondroplasia	Achondroplasia	Orphanet	15	http://www.orpha.net/ORDO/Orphanet_15
Ataxia with vitamin E deficiency	Ataxia with vitamin E deficiency	Orphanet	96	http://www.orpha.net/ORDO/Orphanet_96
Isolated congenital auditory ossicle malformation	Isolated congenital auditory ossicle malformation	Orphanet	162526	http://www.orpha.net/ORDO/Orphanet_162526
Dentatorubral pallidoluysian atrophy	Dentatorubral pallidoluysian atrophy	Orphanet	101	http://www.orpha.net/ORDO/Orphanet_101
Rubinstein-Taybi syndrome	Rubinstein-Taybi syndrome	Orphanet	783	http://www.orpha.net/ORDO/Orphanet_783
Spondyloepiphyseal dysplasia, Nishimura type	Spondyloepiphyseal dysplasia, Nishimura type	Orphanet	163649	http://www.orpha.net/ORDO/Orphanet_163649
Non-acquired isolated growth hormone deficiency	Non-acquired isolated growth hormone deficiency	Orphanet	631	http://www.orpha.net/ORDO/Orphanet_631
T-B+ severe combined immunodeficiency due to gamma chain deficiency	T-B+ severe combined immunodeficiency due to gamma chain deficiency	Orphanet	276	http://www.orpha.net/ORDO/Orphanet_276
Spondyloepiphyseal dysplasia, Cantu type	Spondyloepiphyseal dysplasia, Cantu type	Orphanet	163654	http://www.orpha.net/ORDO/Orphanet_163654
Kennedy disease	Kennedy disease	Orphanet	481	http://www.orpha.net/ORDO/Orphanet_481
Ornithine transcarbamylase deficiency	Ornithine transcarbamylase deficiency	Orphanet	664	http://www.orpha.net/ORDO/Orphanet_664
Spondyloepiphyseal dysplasia, MacDermot type	Spondyloepiphyseal dysplasia, MacDermot type	Orphanet	163668	http://www.orpha.net/ORDO/Orphanet_163668
Spondyloepiphyseal dysplasia, Byers type	Spondyloepiphyseal dysplasia, Byers type	Orphanet	163673	http://www.orpha.net/ORDO/Orphanet_163673
Spondyloepiphyseal dysplasia, Reardon type	Spondyloepiphyseal dysplasia, Reardon type	Orphanet	163662	http://www.orpha.net/ORDO/Orphanet_163662
Classic homocystinuria	Classic homocystinuria	Orphanet	394	http://www.orpha.net/ORDO/Orphanet_394
Spondyloepiphyseal dysplasia tarda, Kohn type	Spondyloepiphyseal dysplasia tarda, Kohn type	Orphanet	163665	http://www.orpha.net/ORDO/Orphanet_163665
Leprechaunism	Leprechaunism	Orphanet	508	http://www.orpha.net/ORDO/Orphanet_508
Rare mycosis	Rare mycosis	Orphanet	163591	http://www.orpha.net/ORDO/Orphanet_163591
Hypophosphatasia	Hypophosphatasia	Orphanet	436	http://www.orpha.net/ORDO/Orphanet_436
Hb Bart's hydrops fetalis	Hb Bart's hydrops fetalis	Orphanet	163596	http://www.orpha.net/ORDO/Orphanet_163596
Rare viral disease	Rare viral disease	Orphanet	163585	http://www.orpha.net/ORDO/Orphanet_163585
Hypochondroplasia	Hypochondroplasia	Orphanet	429	http://www.orpha.net/ORDO/Orphanet_429
Rare parasitic disease	Rare parasitic disease	Orphanet	163588	http://www.orpha.net/ORDO/Orphanet_163588
Hypophosphatemic rickets	Hypophosphatemic rickets	Orphanet	437	http://www.orpha.net/ORDO/Orphanet_437
Rare disorder related with pregnancy, childbirth and puerperium	Rare disorder related with pregnancy, childbirth and puerperium	Orphanet	163637	http://www.orpha.net/ORDO/Orphanet_163637
Leber hereditary optic neuropathy	Leber hereditary optic neuropathy	Orphanet	104	http://www.orpha.net/ORDO/Orphanet_104
Bile acid synthesis defect with cholestasis and malabsorption	Bile acid synthesis defect with cholestasis and malabsorption	Orphanet	163631	http://www.orpha.net/ORDO/Orphanet_163631
Hydrocephalus with stenosis of the aqueduct of Sylvius	Hydrocephalus with stenosis of the aqueduct of Sylvius	Orphanet	2182	http://www.orpha.net/ORDO/Orphanet_2182
Maffucci syndrome	Maffucci syndrome	Orphanet	163634	http://www.orpha.net/ORDO/Orphanet_163634
Benign familial mesial temporal lobe epilepsy	Benign familial mesial temporal lobe epilepsy	Orphanet	163717	http://www.orpha.net/ORDO/Orphanet_163717
Cryptogenic late-onset epileptic spasms	Cryptogenic late-onset epileptic spasms	Orphanet	163708	http://www.orpha.net/ORDO/Orphanet_163708
Neurofibromatosis type 1	Neurofibromatosis type 1	Orphanet	636	http://www.orpha.net/ORDO/Orphanet_636
Febrile infection-related epilepsy syndrome	Febrile infection-related epilepsy syndrome	Orphanet	163703	http://www.orpha.net/ORDO/Orphanet_163703
Norrie disease	Norrie disease	Orphanet	649	http://www.orpha.net/ORDO/Orphanet_649
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	Orphanet	163727	http://www.orpha.net/ORDO/Orphanet_163727
Rolandic epilepsy-speech dyspraxia syndrome	Rolandic epilepsy-speech dyspraxia syndrome	Orphanet	163721	http://www.orpha.net/ORDO/Orphanet_163721
Leukoencephalopathy-dystonia-motor neuropathy syndrome	Leukoencephalopathy-dystonia-motor neuropathy syndrome	Orphanet	163684	http://www.orpha.net/ORDO/Orphanet_163684
Cortical dysplasia-focal epilepsy syndrome	Cortical dysplasia-focal epilepsy syndrome	Orphanet	163681	http://www.orpha.net/ORDO/Orphanet_163681
Chronic granulomatous disease	Chronic granulomatous disease	Orphanet	379	http://www.orpha.net/ORDO/Orphanet_379
Blue cone monochromatism	Blue cone monochromatism	Orphanet	16	http://www.orpha.net/ORDO/Orphanet_16
Alveolar soft tissue sarcoma	Alveolar soft tissue sarcoma	Orphanet	163699	http://www.orpha.net/ORDO/Orphanet_163699
NARP syndrome	NARP syndrome	Orphanet	644	http://www.orpha.net/ORDO/Orphanet_644
Neurofibromatosis type 2	Neurofibromatosis type 2	Orphanet	637	http://www.orpha.net/ORDO/Orphanet_637
Action myoclonus-renal failure syndrome	Action myoclonus-renal failure syndrome	Orphanet	163696	http://www.orpha.net/ORDO/Orphanet_163696
X-linked hypohidrotic ectodermal dysplasia	X-linked hypohidrotic ectodermal dysplasia	Orphanet	181	http://www.orpha.net/ORDO/Orphanet_181
2p21 microdeletion syndrome	2p21 microdeletion syndrome	Orphanet	163693	http://www.orpha.net/ORDO/Orphanet_163693
Hypotonia-cystinuria syndrome	Hypotonia-cystinuria syndrome	Orphanet	163690	http://www.orpha.net/ORDO/Orphanet_163690
Fibrodysplasia ossificans progressiva	Fibrodysplasia ossificans progressiva	Orphanet	337	http://www.orpha.net/ORDO/Orphanet_337
Watson syndrome	Watson syndrome	Orphanet	3444	http://www.orpha.net/ORDO/Orphanet_3444
Gorlin syndrome	Gorlin syndrome	Orphanet	377	http://www.orpha.net/ORDO/Orphanet_377
Noonan syndrome	Noonan syndrome	Orphanet	648	http://www.orpha.net/ORDO/Orphanet_648
Monosomy 5p	Monosomy 5p	Orphanet	281	http://www.orpha.net/ORDO/Orphanet_281
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency	Orphanet	752	http://www.orpha.net/ORDO/Orphanet_752
Cystinuria	Cystinuria	Orphanet	214	http://www.orpha.net/ORDO/Orphanet_214
Lesch-Nyhan syndrome	Lesch-Nyhan syndrome	Orphanet	510	http://www.orpha.net/ORDO/Orphanet_510
Li-Fraumeni syndrome	Li-Fraumeni syndrome	Orphanet	524	http://www.orpha.net/ORDO/Orphanet_524
Pearson syndrome	Pearson syndrome	Orphanet	699	http://www.orpha.net/ORDO/Orphanet_699
Hereditary neuropathy with liability to pressure palsies	Hereditary neuropathy with liability to pressure palsies	Orphanet	640	http://www.orpha.net/ORDO/Orphanet_640
Alpha-1-antitrypsin deficiency	Alpha-1-antitrypsin deficiency	Orphanet	60	http://www.orpha.net/ORDO/Orphanet_60
Waardenburg syndrome type 2	Waardenburg syndrome type 2	Orphanet	895	http://www.orpha.net/ORDO/Orphanet_895
Waardenburg syndrome type 3	Waardenburg syndrome type 3	Orphanet	896	http://www.orpha.net/ORDO/Orphanet_896
NON RARE IN EUROPE: Schizophrenia	NON RARE IN EUROPE: Schizophrenia	Orphanet	3140	http://www.orpha.net/ORDO/Orphanet_3140
Townes-Brocks syndrome	Townes-Brocks syndrome	Orphanet	857	http://www.orpha.net/ORDO/Orphanet_857
Waardenburg syndrome type 1	Waardenburg syndrome type 1	Orphanet	894	http://www.orpha.net/ORDO/Orphanet_894
Hyperkalemic periodic paralysis	Hyperkalemic periodic paralysis	Orphanet	682	http://www.orpha.net/ORDO/Orphanet_682
Schwartz-Jampel syndrome	Schwartz-Jampel syndrome	Orphanet	800	http://www.orpha.net/ORDO/Orphanet_800
NON RARE IN EUROPE: Patent arterial duct	NON RARE IN EUROPE: Patent arterial duct	Orphanet	706	http://www.orpha.net/ORDO/Orphanet_706
Diastrophic dwarfism	Diastrophic dwarfism	Orphanet	628	http://www.orpha.net/ORDO/Orphanet_628
Malaria	Malaria	Orphanet	673	http://www.orpha.net/ORDO/Orphanet_673
Hypokalemic periodic paralysis	Hypokalemic periodic paralysis	Orphanet	681	http://www.orpha.net/ORDO/Orphanet_681
Blepharophimosis-ptosis-epicanthus inversus syndrome	Blepharophimosis-ptosis-epicanthus inversus syndrome	Orphanet	126	http://www.orpha.net/ORDO/Orphanet_126
BOR syndrome	BOR syndrome	Orphanet	107	http://www.orpha.net/ORDO/Orphanet_107
Hereditary hemorrhagic telangiectasia	Hereditary hemorrhagic telangiectasia	Orphanet	774	http://www.orpha.net/ORDO/Orphanet_774
Saethre-Chotzen syndrome	Saethre-Chotzen syndrome	Orphanet	794	http://www.orpha.net/ORDO/Orphanet_794
Pfeiffer syndrome	Pfeiffer syndrome	Orphanet	710	http://www.orpha.net/ORDO/Orphanet_710
Peutz-Jeghers syndrome	Peutz-Jeghers syndrome	Orphanet	2869	http://www.orpha.net/ORDO/Orphanet_2869
NON RARE IN EUROPE: Hereditary essential tremor	NON RARE IN EUROPE: Hereditary essential tremor	Orphanet	862	http://www.orpha.net/ORDO/Orphanet_862
WAGR syndrome	WAGR syndrome	Orphanet	893	http://www.orpha.net/ORDO/Orphanet_893
Zellweger syndrome	Zellweger syndrome	Orphanet	912	http://www.orpha.net/ORDO/Orphanet_912
Aicardi syndrome	Aicardi syndrome	Orphanet	50	http://www.orpha.net/ORDO/Orphanet_50
Albers-Schönberg osteopetrosis	Albers-Schönberg osteopetrosis	Orphanet	53	http://www.orpha.net/ORDO/Orphanet_53
Abetalipoproteinemia	Abetalipoproteinemia	Orphanet	14	http://www.orpha.net/ORDO/Orphanet_14
Alagille syndrome	Alagille syndrome	Orphanet	52	http://www.orpha.net/ORDO/Orphanet_52
Chédiak-Higashi syndrome	Chédiak-Higashi syndrome	Orphanet	167	http://www.orpha.net/ORDO/Orphanet_167
Cat-eye syndrome	Cat-eye syndrome	Orphanet	195	http://www.orpha.net/ORDO/Orphanet_195
Crouzon disease	Crouzon disease	Orphanet	207	http://www.orpha.net/ORDO/Orphanet_207
Crigler-Najjar syndrome	Crigler-Najjar syndrome	Orphanet	205	http://www.orpha.net/ORDO/Orphanet_205
Cap polyposis	Cap polyposis	Orphanet	160148	http://www.orpha.net/ORDO/Orphanet_160148
Cowden syndrome	Cowden syndrome	Orphanet	201	http://www.orpha.net/ORDO/Orphanet_201
Coffin-Lowry syndrome	Coffin-Lowry syndrome	Orphanet	192	http://www.orpha.net/ORDO/Orphanet_192
X-linked lymphoproliferative disease	X-linked lymphoproliferative disease	Orphanet	2442	http://www.orpha.net/ORDO/Orphanet_2442
Mild hemophilia A	Mild hemophilia A	Orphanet	169808	http://www.orpha.net/ORDO/Orphanet_169808
Congenital vitamin K-dependent coagulation factors deficiency	Congenital vitamin K-dependent coagulation factors deficiency	Orphanet	169826	http://www.orpha.net/ORDO/Orphanet_169826
Severe hemophilia A	Severe hemophilia A	Orphanet	169802	http://www.orpha.net/ORDO/Orphanet_169802
Moderately severe hemophilia A	Moderately severe hemophilia A	Orphanet	169805	http://www.orpha.net/ORDO/Orphanet_169805
McCune-Albright syndrome	McCune-Albright syndrome	Orphanet	562	http://www.orpha.net/ORDO/Orphanet_562
Menkes disease	Menkes disease	Orphanet	565	http://www.orpha.net/ORDO/Orphanet_565
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	Orphanet	2443	http://www.orpha.net/ORDO/Orphanet_2443
NON RARE IN EUROPE: Celiac disease	NON RARE IN EUROPE: Celiac disease	Orphanet	555	http://www.orpha.net/ORDO/Orphanet_555
Jeune syndrome	Jeune syndrome	Orphanet	474	http://www.orpha.net/ORDO/Orphanet_474
Familial hemophagocytic lymphohistiocytosis	Familial hemophagocytic lymphohistiocytosis	Orphanet	540	http://www.orpha.net/ORDO/Orphanet_540
Microphthalmia, Lenz type	Microphthalmia, Lenz type	Orphanet	568	http://www.orpha.net/ORDO/Orphanet_568
Meckel syndrome	Meckel syndrome	Orphanet	564	http://www.orpha.net/ORDO/Orphanet_564
Ellis Van Creveld syndrome	Ellis Van Creveld syndrome	Orphanet	289	http://www.orpha.net/ORDO/Orphanet_289
Laminin subunit alpha 2-related congenital muscular dystrophy	Laminin subunit alpha 2-related congenital muscular dystrophy	Orphanet	258	http://www.orpha.net/ORDO/Orphanet_258
Schistosomiasis	Schistosomiasis	Orphanet	1247	http://www.orpha.net/ORDO/Orphanet_1247
Bartter syndrome	Bartter syndrome	Orphanet	112	http://www.orpha.net/ORDO/Orphanet_112
Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells	Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells	Orphanet	169443	http://www.orpha.net/ORDO/Orphanet_169443
Partial chromosome Y deletion	Partial chromosome Y deletion	Orphanet	1646	http://www.orpha.net/ORDO/Orphanet_1646
Primary CD59 deficiency	Primary CD59 deficiency	Orphanet	169464	http://www.orpha.net/ORDO/Orphanet_169464
Autosomal dominant cerebellar ataxia	Autosomal dominant cerebellar ataxia	Orphanet	99	http://www.orpha.net/ORDO/Orphanet_99
Beckwith-Wiedemann syndrome	Beckwith-Wiedemann syndrome	Orphanet	116	http://www.orpha.net/ORDO/Orphanet_116
Apert syndrome	Apert syndrome	Orphanet	87	http://www.orpha.net/ORDO/Orphanet_87
Secondary central precocious puberty	Secondary central precocious puberty	Orphanet	169618	http://www.orpha.net/ORDO/Orphanet_169618
Idiopathic central precocious puberty	Idiopathic central precocious puberty	Orphanet	169615	http://www.orpha.net/ORDO/Orphanet_169615
Familial paroxysmal ataxia	Familial paroxysmal ataxia	Orphanet	97	http://www.orpha.net/ORDO/Orphanet_97
Recurrent Neisseria infections due to factor D deficiency	Recurrent Neisseria infections due to factor D deficiency	Orphanet	169467	http://www.orpha.net/ORDO/Orphanet_169467
Lamellar ichthyosis	Lamellar ichthyosis	Orphanet	313	http://www.orpha.net/ORDO/Orphanet_313
Mild hemophilia B	Mild hemophilia B	Orphanet	169799	http://www.orpha.net/ORDO/Orphanet_169799
Moderately severe hemophilia B	Moderately severe hemophilia B	Orphanet	169796	http://www.orpha.net/ORDO/Orphanet_169796
Severe hemophilia B	Severe hemophilia B	Orphanet	169793	http://www.orpha.net/ORDO/Orphanet_169793
NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia	NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia	Orphanet	406	http://www.orpha.net/ORDO/Orphanet_406
Rectal duplication	Rectal duplication	Orphanet	171220	http://www.orpha.net/ORDO/Orphanet_171220
Ocular albinism with late-onset sensorineural deafness	Ocular albinism with late-onset sensorineural deafness	Orphanet	1000	http://www.orpha.net/ORDO/Orphanet_1000
Ermine phenotype	Ermine phenotype	Orphanet	999	http://www.orpha.net/ORDO/Orphanet_999
Severe congenital nemaline myopathy	Severe congenital nemaline myopathy	Orphanet	171430	http://www.orpha.net/ORDO/Orphanet_171430
Intermediate nemaline myopathy	Intermediate nemaline myopathy	Orphanet	171433	http://www.orpha.net/ORDO/Orphanet_171433
Typical nemaline myopathy	Typical nemaline myopathy	Orphanet	171436	http://www.orpha.net/ORDO/Orphanet_171436
Childhood-onset nemaline myopathy	Childhood-onset nemaline myopathy	Orphanet	171439	http://www.orpha.net/ORDO/Orphanet_171439
Oculocutaneous albinism	Oculocutaneous albinism	Orphanet	55	http://www.orpha.net/ORDO/Orphanet_55
Adult-onset nemaline myopathy	Adult-onset nemaline myopathy	Orphanet	171442	http://www.orpha.net/ORDO/Orphanet_171442
Muscle filaminopathy	Muscle filaminopathy	Orphanet	171445	http://www.orpha.net/ORDO/Orphanet_171445
X-linked spastic paraplegia type 34	X-linked spastic paraplegia type 34	Orphanet	171607	http://www.orpha.net/ORDO/Orphanet_171607
Bruck syndrome	Bruck syndrome	Orphanet	2771	http://www.orpha.net/ORDO/Orphanet_2771
NON RARE IN EUROPE: Autism	NON RARE IN EUROPE: Autism	Orphanet	106	http://www.orpha.net/ORDO/Orphanet_106
Autosomal dominant spastic paraplegia type 37	Autosomal dominant spastic paraplegia type 37	Orphanet	171612	http://www.orpha.net/ORDO/Orphanet_171612
Autosomal dominant spastic paraplegia type 38	Autosomal dominant spastic paraplegia type 38	Orphanet	171617	http://www.orpha.net/ORDO/Orphanet_171617
Mitochondrial DNA-related cardiomyopathy and hearing loss	Mitochondrial DNA-related cardiomyopathy and hearing loss	Orphanet	1349	http://www.orpha.net/ORDO/Orphanet_1349
Autosomal recessive spastic paraplegia type 32	Autosomal recessive spastic paraplegia type 32	Orphanet	171622	http://www.orpha.net/ORDO/Orphanet_171622
Autosomal recessive spastic paraplegia type 35	Autosomal recessive spastic paraplegia type 35	Orphanet	171629	http://www.orpha.net/ORDO/Orphanet_171629
NON RARE IN EUROPE: Gilbert syndrome	NON RARE IN EUROPE: Gilbert syndrome	Orphanet	357	http://www.orpha.net/ORDO/Orphanet_357
Treacher-Collins syndrome	Treacher-Collins syndrome	Orphanet	861	http://www.orpha.net/ORDO/Orphanet_861
Unverricht-Lundborg disease	Unverricht-Lundborg disease	Orphanet	308	http://www.orpha.net/ORDO/Orphanet_308
Cleft lip with or without cleft palate	Cleft lip with or without cleft palate	Orphanet	1991	http://www.orpha.net/ORDO/Orphanet_1991
Cornelia de Lange syndrome	Cornelia de Lange syndrome	Orphanet	199	http://www.orpha.net/ORDO/Orphanet_199
High isolated anorectal malformation	High isolated anorectal malformation	Orphanet	171201	http://www.orpha.net/ORDO/Orphanet_171201
Holoprosencephaly	Holoprosencephaly	Orphanet	2162	http://www.orpha.net/ORDO/Orphanet_2162
Idiopathic achalasia	Idiopathic achalasia	Orphanet	930	http://www.orpha.net/ORDO/Orphanet_930
Low isolated anorectal malformation	Low isolated anorectal malformation	Orphanet	171215	http://www.orpha.net/ORDO/Orphanet_171215
Albinism-deafness syndrome	Albinism-deafness syndrome	Orphanet	998	http://www.orpha.net/ORDO/Orphanet_998
Intermediate isolated anorectal malformation	Intermediate isolated anorectal malformation	Orphanet	171208	http://www.orpha.net/ORDO/Orphanet_171208
22q11.2 microduplication syndrome	22q11.2 microduplication syndrome	Orphanet	1727	http://www.orpha.net/ORDO/Orphanet_1727
Cernunnos-XLF deficiency	Cernunnos-XLF deficiency	Orphanet	169079	http://www.orpha.net/ORDO/Orphanet_169079
Distal trisomy 18q	Distal trisomy 18q	Orphanet	1716	http://www.orpha.net/ORDO/Orphanet_1716
Trisomy 18p	Trisomy 18p	Orphanet	1715	http://www.orpha.net/ORDO/Orphanet_1715
Trisomy 18	Trisomy 18	Orphanet	3380	http://www.orpha.net/ORDO/Orphanet_3380
CLAPO syndrome	CLAPO syndrome	Orphanet	168984	http://www.orpha.net/ORDO/Orphanet_168984
Distal trisomy 15q	Distal trisomy 15q	Orphanet	1707	http://www.orpha.net/ORDO/Orphanet_1707
Malignant melanoma of the mucosa	Malignant melanoma of the mucosa	Orphanet	168999	http://www.orpha.net/ORDO/Orphanet_168999
Trisomy 13	Trisomy 13	Orphanet	3378	http://www.orpha.net/ORDO/Orphanet_3378
Kahrizi syndrome	Kahrizi syndrome	Orphanet	168972	http://www.orpha.net/ORDO/Orphanet_168972
Immunoglobulin heavy chain deficiency	Immunoglobulin heavy chain deficiency	Orphanet	169110	http://www.orpha.net/ORDO/Orphanet_169110
Immunodeficiency due to CD25 deficiency	Immunodeficiency due to CD25 deficiency	Orphanet	169100	http://www.orpha.net/ORDO/Orphanet_169100
Good syndrome	Good syndrome	Orphanet	169105	http://www.orpha.net/ORDO/Orphanet_169105
Combined immunodeficiency due to CRAC channel dysfunction	Combined immunodeficiency due to CRAC channel dysfunction	Orphanet	169090	http://www.orpha.net/ORDO/Orphanet_169090
Trisomy 9p	Trisomy 9p	Orphanet	236	http://www.orpha.net/ORDO/Orphanet_236
Severe combined immunodeficiency due to FOXN1 deficiency	Severe combined immunodeficiency due to FOXN1 deficiency	Orphanet	169095	http://www.orpha.net/ORDO/Orphanet_169095
Combined immunodeficiency due to CD3gamma deficiency	Combined immunodeficiency due to CD3gamma deficiency	Orphanet	169082	http://www.orpha.net/ORDO/Orphanet_169082
Susceptibility to respiratory infections associated with CD8alpha chain mutation	Susceptibility to respiratory infections associated with CD8alpha chain mutation	Orphanet	169085	http://www.orpha.net/ORDO/Orphanet_169085
Primary peritoneal carcinoma	Primary peritoneal carcinoma	Orphanet	168829	http://www.orpha.net/ORDO/Orphanet_168829
Peritoneal cystic mesothelioma	Peritoneal cystic mesothelioma	Orphanet	168816	http://www.orpha.net/ORDO/Orphanet_168816
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency	Orphanet	753	http://www.orpha.net/ORDO/Orphanet_753
Triose phosphate-isomerase deficiency	Triose phosphate-isomerase deficiency	Orphanet	868	http://www.orpha.net/ORDO/Orphanet_868
Malignant peritoneal mesothelioma	Malignant peritoneal mesothelioma	Orphanet	168811	http://www.orpha.net/ORDO/Orphanet_168811
Primary malignant peritoneal tumor	Primary malignant peritoneal tumor	Orphanet	168807	http://www.orpha.net/ORDO/Orphanet_168807
Primary peritoneal tumor	Primary peritoneal tumor	Orphanet	168803	http://www.orpha.net/ORDO/Orphanet_168803
Darier disease	Darier disease	Orphanet	218	http://www.orpha.net/ORDO/Orphanet_218
Heart-hand syndrome, Slovenian type	Heart-hand syndrome, Slovenian type	Orphanet	168796	http://www.orpha.net/ORDO/Orphanet_168796
Coffin-Siris syndrome	Coffin-Siris syndrome	Orphanet	1465	http://www.orpha.net/ORDO/Orphanet_1465
Childhood disintegrative disorder	Childhood disintegrative disorder	Orphanet	168782	http://www.orpha.net/ORDO/Orphanet_168782
Distal monosomy 9p	Distal monosomy 9p	Orphanet	1642	http://www.orpha.net/ORDO/Orphanet_1642
Composite lymphoma	Composite lymphoma	Orphanet	168966	http://www.orpha.net/ORDO/Orphanet_168966
Refractory anemia with excess blasts in transformation	Refractory anemia with excess blasts in transformation	Orphanet	168960	http://www.orpha.net/ORDO/Orphanet_168960
47,XYY syndrome	47,XYY syndrome	Orphanet	8	http://www.orpha.net/ORDO/Orphanet_8
Distal monosomy 7q36	Distal monosomy 7q36	Orphanet	1636	http://www.orpha.net/ORDO/Orphanet_1636
Hypereosinophilic syndrome	Hypereosinophilic syndrome	Orphanet	168956	http://www.orpha.net/ORDO/Orphanet_168956
Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement	Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement	Orphanet	168953	http://www.orpha.net/ORDO/Orphanet_168953
Monosomy 18q	Monosomy 18q	Orphanet	1600	http://www.orpha.net/ORDO/Orphanet_1600
Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement	Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement	Orphanet	168950	http://www.orpha.net/ORDO/Orphanet_168950
Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement	Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement	Orphanet	168947	http://www.orpha.net/ORDO/Orphanet_168947
Monosomy 18p	Monosomy 18p	Orphanet	1598	http://www.orpha.net/ORDO/Orphanet_1598
Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1	Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1	Orphanet	168943	http://www.orpha.net/ORDO/Orphanet_168943
Chronic eosinophilic leukemia	Chronic eosinophilic leukemia	Orphanet	168940	http://www.orpha.net/ORDO/Orphanet_168940
Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome	Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome	Orphanet	2773	http://www.orpha.net/ORDO/Orphanet_2773
Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome	Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome	Orphanet	2772	http://www.orpha.net/ORDO/Orphanet_2772
Isolated complex I deficiency	Isolated complex I deficiency	Orphanet	2609	http://www.orpha.net/ORDO/Orphanet_2609
Immune dysregulation disease with immunodeficiency	Immune dysregulation disease with immunodeficiency	Orphanet	169361	http://www.orpha.net/ORDO/Orphanet_169361
Large congenital melanocytic nevus	Large congenital melanocytic nevus	Orphanet	626	http://www.orpha.net/ORDO/Orphanet_626
Refsum disease	Refsum disease	Orphanet	773	http://www.orpha.net/ORDO/Orphanet_773
Pentasomy X	Pentasomy X	Orphanet	11	http://www.orpha.net/ORDO/Orphanet_11
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	Orphanet	169154	http://www.orpha.net/ORDO/Orphanet_169154
Glycogen storage disease due to phosphorylase kinase deficiency	Glycogen storage disease due to phosphorylase kinase deficiency	Orphanet	370	http://www.orpha.net/ORDO/Orphanet_370
Immunodeficiency due to a late component of complement deficiency	Immunodeficiency due to a late component of complement deficiency	Orphanet	169150	http://www.orpha.net/ORDO/Orphanet_169150
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	Orphanet	169160	http://www.orpha.net/ORDO/Orphanet_169160
Neurodegeneration with brain iron accumulation	Neurodegeneration with brain iron accumulation	Orphanet	385	http://www.orpha.net/ORDO/Orphanet_385
T-B+ severe combined immunodeficiency due to CD45 deficiency	T-B+ severe combined immunodeficiency due to CD45 deficiency	Orphanet	169157	http://www.orpha.net/ORDO/Orphanet_169157
Transient hypogammaglobulinemia of infancy	Transient hypogammaglobulinemia of infancy	Orphanet	169139	http://www.orpha.net/ORDO/Orphanet_169139
Progressive epilepsy-intellectual disability syndrome, Finnish type	Progressive epilepsy-intellectual disability syndrome, Finnish type	Orphanet	1947	http://www.orpha.net/ORDO/Orphanet_1947
Immunodeficiency due to a classical component pathway complement deficiency	Immunodeficiency due to a classical component pathway complement deficiency	Orphanet	169147	http://www.orpha.net/ORDO/Orphanet_169147
Recurrent infection due to specific granule deficiency	Recurrent infection due to specific granule deficiency	Orphanet	169142	http://www.orpha.net/ORDO/Orphanet_169142
Galactosemia	Galactosemia	Orphanet	352	http://www.orpha.net/ORDO/Orphanet_352
X-linked centronuclear myopathy	X-linked centronuclear myopathy	Orphanet	596	http://www.orpha.net/ORDO/Orphanet_596
Immuno-osseous dysplasia	Immuno-osseous dysplasia	Orphanet	169349	http://www.orpha.net/ORDO/Orphanet_169349
DNA repair defect other than combined T-cell and B-cell immunodeficiencies	DNA repair defect other than combined T-cell and B-cell immunodeficiencies	Orphanet	169346	http://www.orpha.net/ORDO/Orphanet_169346
Immunodeficiency syndrome with autoimmunity	Immunodeficiency syndrome with autoimmunity	Orphanet	169355	http://www.orpha.net/ORDO/Orphanet_169355
Bethlem myopathy	Bethlem myopathy	Orphanet	610	http://www.orpha.net/ORDO/Orphanet_610
Autosomal recessive centronuclear myopathy	Autosomal recessive centronuclear myopathy	Orphanet	169186	http://www.orpha.net/ORDO/Orphanet_169186
Incontinentia pigmenti	Incontinentia pigmenti	Orphanet	464	http://www.orpha.net/ORDO/Orphanet_464
Tetrasomy 18p	Tetrasomy 18p	Orphanet	3307	http://www.orpha.net/ORDO/Orphanet_3307
Familial scaphocephaly syndrome	Familial scaphocephaly syndrome	Orphanet	169163	http://www.orpha.net/ORDO/Orphanet_169163
NON RARE IN EUROPE: Klinefelter syndrome	NON RARE IN EUROPE: Klinefelter syndrome	Orphanet	484	http://www.orpha.net/ORDO/Orphanet_484
Autosomal dominant centronuclear myopathy	Autosomal dominant centronuclear myopathy	Orphanet	169189	http://www.orpha.net/ORDO/Orphanet_169189
Mirhosseini-Holmes-Walton syndrome	Mirhosseini-Holmes-Walton syndrome	Orphanet	3084	http://www.orpha.net/ORDO/Orphanet_3084
Neonatal adrenoleukodystrophy	Neonatal adrenoleukodystrophy	Orphanet	44	http://www.orpha.net/ORDO/Orphanet_44
Alkaptonuria	Alkaptonuria	Orphanet	56	http://www.orpha.net/ORDO/Orphanet_56
Acromegaly	Acromegaly	Orphanet	963	http://www.orpha.net/ORDO/Orphanet_963
Blue rubber bleb nevus	Blue rubber bleb nevus	Orphanet	1059	http://www.orpha.net/ORDO/Orphanet_1059
Alopecia antibody deficiency	Alopecia antibody deficiency	Orphanet	1006	http://www.orpha.net/ORDO/Orphanet_1006
Lethal hemolytic anemia-genital anomalies syndrome	Lethal hemolytic anemia-genital anomalies syndrome	Orphanet	1046	http://www.orpha.net/ORDO/Orphanet_1046
Succinic semialdehyde dehydrogenase deficiency	Succinic semialdehyde dehydrogenase deficiency	Orphanet	22	http://www.orpha.net/ORDO/Orphanet_22
Mevalonic aciduria	Mevalonic aciduria	Orphanet	29	http://www.orpha.net/ORDO/Orphanet_29
Nager syndrome	Nager syndrome	Orphanet	245	http://www.orpha.net/ORDO/Orphanet_245
Hereditary orotic aciduria	Hereditary orotic aciduria	Orphanet	30	http://www.orpha.net/ORDO/Orphanet_30
Acrocallosal syndrome	Acrocallosal syndrome	Orphanet	36	http://www.orpha.net/ORDO/Orphanet_36
Aarskog-Scott syndrome	Aarskog-Scott syndrome	Orphanet	915	http://www.orpha.net/ORDO/Orphanet_915
Nail-patella syndrome	Nail-patella syndrome	Orphanet	2614	http://www.orpha.net/ORDO/Orphanet_2614
Isovaleric acidemia	Isovaleric acidemia	Orphanet	33	http://www.orpha.net/ORDO/Orphanet_33
Rare cardiac tumor	Rare cardiac tumor	Orphanet	168194	http://www.orpha.net/ORDO/Orphanet_168194
NON RARE IN EUROPE: Acanthosis nigricans	NON RARE IN EUROPE: Acanthosis nigricans	Orphanet	924	http://www.orpha.net/ORDO/Orphanet_924
Smith-Magenis syndrome	Smith-Magenis syndrome	Orphanet	819	http://www.orpha.net/ORDO/Orphanet_819
Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome	Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome	Orphanet	3085	http://www.orpha.net/ORDO/Orphanet_3085
Tetrasomy X	Tetrasomy X	Orphanet	9	http://www.orpha.net/ORDO/Orphanet_9
Hereditary persistence of alpha-fetoprotein	Hereditary persistence of alpha-fetoprotein	Orphanet	168615	http://www.orpha.net/ORDO/Orphanet_168615
Congenital deficiency in alpha-fetoprotein	Congenital deficiency in alpha-fetoprotein	Orphanet	168612	http://www.orpha.net/ORDO/Orphanet_168612
Ring chromosome 18 syndrome	Ring chromosome 18 syndrome	Orphanet	1442	http://www.orpha.net/ORDO/Orphanet_1442
Dysplasia of head of femur, Meyer type	Dysplasia of head of femur, Meyer type	Orphanet	168621	http://www.orpha.net/ORDO/Orphanet_168621
Cleidocranial dysplasia	Cleidocranial dysplasia	Orphanet	1452	http://www.orpha.net/ORDO/Orphanet_1452
Autosomal dominant coarctation of aorta	Autosomal dominant coarctation of aorta	Orphanet	1455	http://www.orpha.net/ORDO/Orphanet_1455
Autosomal thrombocytopenia with normal platelets	Autosomal thrombocytopenia with normal platelets	Orphanet	168629	http://www.orpha.net/ORDO/Orphanet_168629
Familial scaphocephaly syndrome, McGillivray type	Familial scaphocephaly syndrome, McGillivray type	Orphanet	168624	http://www.orpha.net/ORDO/Orphanet_168624
Cohen syndrome	Cohen syndrome	Orphanet	193	http://www.orpha.net/ORDO/Orphanet_193
Rare pervasive developmental disorder	Rare pervasive developmental disorder	Orphanet	168778	http://www.orpha.net/ORDO/Orphanet_168778
Cooper-Jabs syndrome	Cooper-Jabs syndrome	Orphanet	1488	http://www.orpha.net/ORDO/Orphanet_1488
Isolated corpus callosum agenesis	Isolated corpus callosum agenesis	Orphanet	200	http://www.orpha.net/ORDO/Orphanet_200
Generalized basaloid follicular hamartoma syndrome	Generalized basaloid follicular hamartoma syndrome	Orphanet	168632	http://www.orpha.net/ORDO/Orphanet_168632
Chronic mucocutaneous candidiasis	Chronic mucocutaneous candidiasis	Orphanet	1334	http://www.orpha.net/ORDO/Orphanet_1334
Hereditary North American Indian childhood cirrhosis	Hereditary North American Indian childhood cirrhosis	Orphanet	168583	http://www.orpha.net/ORDO/Orphanet_168583
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	Orphanet	1369	http://www.orpha.net/ORDO/Orphanet_1369
Hereditary cryohydrocytosis with reduced stomatin	Hereditary cryohydrocytosis with reduced stomatin	Orphanet	168577	http://www.orpha.net/ORDO/Orphanet_168577
Sudden infant death-dysgenesis of the testes syndrome	Sudden infant death-dysgenesis of the testes syndrome	Orphanet	168593	http://www.orpha.net/ORDO/Orphanet_168593
Charlie M syndrome	Charlie M syndrome	Orphanet	1406	http://www.orpha.net/ORDO/Orphanet_1406
Hyperandrogenism due to cortisone reductase deficiency	Hyperandrogenism due to cortisone reductase deficiency	Orphanet	168588	http://www.orpha.net/ORDO/Orphanet_168588
Congenital enteropathy due to enteropeptidase deficiency	Congenital enteropathy due to enteropeptidase deficiency	Orphanet	168601	http://www.orpha.net/ORDO/Orphanet_168601
Cholestasis-lymphedema syndrome	Cholestasis-lymphedema syndrome	Orphanet	1414	http://www.orpha.net/ORDO/Orphanet_1414
Brain demyelination due to methionine adenosyltransferase deficiency	Brain demyelination due to methionine adenosyltransferase deficiency	Orphanet	168598	http://www.orpha.net/ORDO/Orphanet_168598
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure	Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure	Orphanet	168609	http://www.orpha.net/ORDO/Orphanet_168609
Seborrhea-like dermatitis with psoriasiform elements	Seborrhea-like dermatitis with psoriasiform elements	Orphanet	168606	http://www.orpha.net/ORDO/Orphanet_168606
Axial spondylometaphyseal dysplasia	Axial spondylometaphyseal dysplasia	Orphanet	168549	http://www.orpha.net/ORDO/Orphanet_168549
Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome	Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome	Orphanet	168552	http://www.orpha.net/ORDO/Orphanet_168552
Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	Orphanet	1154	http://www.orpha.net/ORDO/Orphanet_1154
Spondylometaphyseal dysplasia, A4 type	Spondylometaphyseal dysplasia, A4 type	Orphanet	168555	http://www.orpha.net/ORDO/Orphanet_168555
NON RARE IN EUROPE: Asperger syndrome	NON RARE IN EUROPE: Asperger syndrome	Orphanet	1162	http://www.orpha.net/ORDO/Orphanet_1162
46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	Orphanet	168558	http://www.orpha.net/ORDO/Orphanet_168558
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	Orphanet	168563	http://www.orpha.net/ORDO/Orphanet_168563
Blackfan-Diamond anemia	Blackfan-Diamond anemia	Orphanet	124	http://www.orpha.net/ORDO/Orphanet_124
NON RARE IN EUROPE: Barrett esophagus	NON RARE IN EUROPE: Barrett esophagus	Orphanet	1232	http://www.orpha.net/ORDO/Orphanet_1232
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	Orphanet	168566	http://www.orpha.net/ORDO/Orphanet_168566
Caffey disease	Caffey disease	Orphanet	1310	http://www.orpha.net/ORDO/Orphanet_1310
H syndrome	H syndrome	Orphanet	168569	http://www.orpha.net/ORDO/Orphanet_168569
Native American myopathy	Native American myopathy	Orphanet	168572	http://www.orpha.net/ORDO/Orphanet_168572
Bloom syndrome	Bloom syndrome	Orphanet	125	http://www.orpha.net/ORDO/Orphanet_125
Argininemia	Argininemia	Orphanet	90	http://www.orpha.net/ORDO/Orphanet_90
Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome	Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome	Orphanet	168443	http://www.orpha.net/ORDO/Orphanet_168443
Aniridia-cerebellar ataxia-intellectual disability syndrome	Aniridia-cerebellar ataxia-intellectual disability syndrome	Orphanet	1065	http://www.orpha.net/ORDO/Orphanet_1065
Spondyloepimetaphyseal dysplasia, Bieganski type	Spondyloepimetaphyseal dysplasia, Bieganski type	Orphanet	168448	http://www.orpha.net/ORDO/Orphanet_168448
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome	Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome	Orphanet	168451	http://www.orpha.net/ORDO/Orphanet_168451
Arrhinia-choanal atresia-microphthalmia syndrome	Arrhinia-choanal atresia-microphthalmia syndrome	Orphanet	1135	http://www.orpha.net/ORDO/Orphanet_1135
Spondyloepimetaphyseal dysplasia, Geneviève type	Spondyloepimetaphyseal dysplasia, Geneviève type	Orphanet	168454	http://www.orpha.net/ORDO/Orphanet_168454
Digitotalar dysmorphism	Digitotalar dysmorphism	Orphanet	1146	http://www.orpha.net/ORDO/Orphanet_1146
Neurogenic arthrogryposis multiplex congenita	Neurogenic arthrogryposis multiplex congenita	Orphanet	1143	http://www.orpha.net/ORDO/Orphanet_1143
Congenital neuronal ceroid lipofuscinosis	Congenital neuronal ceroid lipofuscinosis	Orphanet	168486	http://www.orpha.net/ORDO/Orphanet_168486
Late infantile neuronal ceroid lipofuscinosis	Late infantile neuronal ceroid lipofuscinosis	Orphanet	168491	http://www.orpha.net/ORDO/Orphanet_168491
Spondylometaphyseal dysplasia, Golden type	Spondylometaphyseal dysplasia, Golden type	Orphanet	168544	http://www.orpha.net/ORDO/Orphanet_168544
Sheldon-Hall syndrome	Sheldon-Hall syndrome	Orphanet	1147	http://www.orpha.net/ORDO/Orphanet_1147
Postaxial acrofacial dysostosis	Postaxial acrofacial dysostosis	Orphanet	246	http://www.orpha.net/ORDO/Orphanet_246
XY type gonadal dysgenesis-associated anomalies syndrome	XY type gonadal dysgenesis-associated anomalies syndrome	Orphanet	1770	http://www.orpha.net/ORDO/Orphanet_1770
Dyskeratosis congenita	Dyskeratosis congenita	Orphanet	1775	http://www.orpha.net/ORDO/Orphanet_1775
Familial dysautonomia	Familial dysautonomia	Orphanet	1764	http://www.orpha.net/ORDO/Orphanet_1764
Dubowitz syndrome	Dubowitz syndrome	Orphanet	235	http://www.orpha.net/ORDO/Orphanet_235
Dyggve-Melchior-Clausen disease	Dyggve-Melchior-Clausen disease	Orphanet	239	http://www.orpha.net/ORDO/Orphanet_239
Rare disease with dentinogenesis imperfecta	Rare disease with dentinogenesis imperfecta	Orphanet	167762	http://www.orpha.net/ORDO/Orphanet_167762
Diencephalic syndrome	Diencephalic syndrome	Orphanet	1672	http://www.orpha.net/ORDO/Orphanet_1672
Hereditary dentin defect	Hereditary dentin defect	Orphanet	167759	http://www.orpha.net/ORDO/Orphanet_167759
Encephalopathy due to sulfite oxidase deficiency	Encephalopathy due to sulfite oxidase deficiency	Orphanet	833	http://www.orpha.net/ORDO/Orphanet_833
Unclassified acute myeloid leukemia	Unclassified acute myeloid leukemia	Orphanet	167714	http://www.orpha.net/ORDO/Orphanet_167714
Scleromyxedema	Scleromyxedema	Orphanet	167635	http://www.orpha.net/ORDO/Orphanet_167635
Pyruvate dehydrogenase deficiency	Pyruvate dehydrogenase deficiency	Orphanet	765	http://www.orpha.net/ORDO/Orphanet_765
Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Orphanet	395	http://www.orpha.net/ORDO/Orphanet_395
Isolated glycerol kinase deficiency	Isolated glycerol kinase deficiency	Orphanet	408	http://www.orpha.net/ORDO/Orphanet_408
Multiple carboxylase deficiency	Multiple carboxylase deficiency	Orphanet	148	http://www.orpha.net/ORDO/Orphanet_148
Carbamoyl-phosphate synthetase 1 deficiency	Carbamoyl-phosphate synthetase 1 deficiency	Orphanet	147	http://www.orpha.net/ORDO/Orphanet_147
Argininosuccinic aciduria	Argininosuccinic aciduria	Orphanet	23	http://www.orpha.net/ORDO/Orphanet_23
Adenosine monophosphate deaminase deficiency	Adenosine monophosphate deaminase deficiency	Orphanet	45	http://www.orpha.net/ORDO/Orphanet_45
Rare hemorrhagic disorder due to an acquired coagulation factor defect	Rare hemorrhagic disorder due to an acquired coagulation factor defect	Orphanet	166775	http://www.orpha.net/ORDO/Orphanet_166775
Dihydropteridine reductase deficiency	Dihydropteridine reductase deficiency	Orphanet	226	http://www.orpha.net/ORDO/Orphanet_226
Isolated Dandy-Walker malformation	Isolated Dandy-Walker malformation	Orphanet	217	http://www.orpha.net/ORDO/Orphanet_217
Dandy-Walker malformation-facial hemangioma syndrome	Dandy-Walker malformation-facial hemangioma syndrome	Orphanet	1564	http://www.orpha.net/ORDO/Orphanet_1564
Cutis marmorata telangiectatica congenita	Cutis marmorata telangiectatica congenita	Orphanet	1556	http://www.orpha.net/ORDO/Orphanet_1556
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome	Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome	Orphanet	1538	http://www.orpha.net/ORDO/Orphanet_1538
Corpus callosum agenesis-neuronopathy syndrome	Corpus callosum agenesis-neuronopathy syndrome	Orphanet	1496	http://www.orpha.net/ORDO/Orphanet_1496
Neonatal severe primary hyperparathyroidism	Neonatal severe primary hyperparathyroidism	Orphanet	417	http://www.orpha.net/ORDO/Orphanet_417
Hypogonadism-mitral valve prolapse-intellectual disability syndrome	Hypogonadism-mitral valve prolapse-intellectual disability syndrome	Orphanet	2233	http://www.orpha.net/ORDO/Orphanet_2233
Hypoplastic left heart syndrome	Hypoplastic left heart syndrome	Orphanet	2248	http://www.orpha.net/ORDO/Orphanet_2248
Neonatal hemochromatosis	Neonatal hemochromatosis	Orphanet	446	http://www.orpha.net/ORDO/Orphanet_446
Hennekam-Beemer syndrome	Hennekam-Beemer syndrome	Orphanet	2135	http://www.orpha.net/ORDO/Orphanet_2135
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	Orphanet	2140	http://www.orpha.net/ORDO/Orphanet_2140
Congenital hydrocephalus	Congenital hydrocephalus	Orphanet	2185	http://www.orpha.net/ORDO/Orphanet_2185
Congenital hypothalamic hamartoma syndrome	Congenital hypothalamic hamartoma syndrome	Orphanet	2113	http://www.orpha.net/ORDO/Orphanet_2113
Hartnup disease	Hartnup disease	Orphanet	2116	http://www.orpha.net/ORDO/Orphanet_2116
Hawkinsinuria	Hawkinsinuria	Orphanet	2118	http://www.orpha.net/ORDO/Orphanet_2118
Rare cardiomyopathy	Rare cardiomyopathy	Orphanet	167848	http://www.orpha.net/ORDO/Orphanet_167848
Galactosialidosis	Galactosialidosis	Orphanet	351	http://www.orpha.net/ORDO/Orphanet_351
Goldenhar syndrome	Goldenhar syndrome	Orphanet	374	http://www.orpha.net/ORDO/Orphanet_374
Congenital fiber-type disproportion myopathy	Congenital fiber-type disproportion myopathy	Orphanet	2020	http://www.orpha.net/ORDO/Orphanet_2020
Freeman-Sheldon syndrome	Freeman-Sheldon syndrome	Orphanet	2053	http://www.orpha.net/ORDO/Orphanet_2053
Frontal encephalocele	Frontal encephalocele	Orphanet	1931	http://www.orpha.net/ORDO/Orphanet_1931
Fetal parvovirus syndrome	Fetal parvovirus syndrome	Orphanet	295	http://www.orpha.net/ORDO/Orphanet_295
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	Orphanet	1933	http://www.orpha.net/ORDO/Orphanet_1933
Ebstein malformation	Ebstein malformation	Orphanet	1880	http://www.orpha.net/ORDO/Orphanet_1880
Dopa-responsive dystonia	Dopa-responsive dystonia	Orphanet	255	http://www.orpha.net/ORDO/Orphanet_255
Fetal alcohol syndrome	Fetal alcohol syndrome	Orphanet	1915	http://www.orpha.net/ORDO/Orphanet_1915
Isolated ectopia lentis	Isolated ectopia lentis	Orphanet	1885	http://www.orpha.net/ORDO/Orphanet_1885
Multicystic dysplastic kidney	Multicystic dysplastic kidney	Orphanet	1851	http://www.orpha.net/ORDO/Orphanet_1851
Omphalocele	Omphalocele	Orphanet	660	http://www.orpha.net/ORDO/Orphanet_660
Rare vulvovaginal tumor	Rare vulvovaginal tumor	Orphanet	180312	http://www.orpha.net/ORDO/Orphanet_180312
Neuroblastoma	Neuroblastoma	Orphanet	635	http://www.orpha.net/ORDO/Orphanet_635
Linear nevus sebaceus syndrome	Linear nevus sebaceus syndrome	Orphanet	2612	http://www.orpha.net/ORDO/Orphanet_2612
Metatropic dysplasia	Metatropic dysplasia	Orphanet	2635	http://www.orpha.net/ORDO/Orphanet_2635
Thanatophoric dysplasia	Thanatophoric dysplasia	Orphanet	2655	http://www.orpha.net/ORDO/Orphanet_2655
Rare non-malformative uterine adnexal disease	Rare non-malformative uterine adnexal disease	Orphanet	180303	http://www.orpha.net/ORDO/Orphanet_180303
Proximal myotonic myopathy	Proximal myotonic myopathy	Orphanet	606	http://www.orpha.net/ORDO/Orphanet_606
Pendred syndrome	Pendred syndrome	Orphanet	705	http://www.orpha.net/ORDO/Orphanet_705
Syndromic diaphragmatic or thoracic malformation	Syndromic diaphragmatic or thoracic malformation	Orphanet	180779	http://www.orpha.net/ORDO/Orphanet_180779
NON RARE IN EUROPE: Peyronie syndrome	NON RARE IN EUROPE: Peyronie syndrome	Orphanet	2870	http://www.orpha.net/ORDO/Orphanet_2870
Non-syndromic diaphragmatic or thoracic malformation	Non-syndromic diaphragmatic or thoracic malformation	Orphanet	180776	http://www.orpha.net/ORDO/Orphanet_180776
Juvenile Paget disease	Juvenile Paget disease	Orphanet	2801	http://www.orpha.net/ORDO/Orphanet_2801
Tetrasomy 12p	Tetrasomy 12p	Orphanet	884	http://www.orpha.net/ORDO/Orphanet_884
Rare disease with autism	Rare disease with autism	Orphanet	180772	http://www.orpha.net/ORDO/Orphanet_180772
Malformative syndrome with dentinogenesis imperfecta	Malformative syndrome with dentinogenesis imperfecta	Orphanet	180766	http://www.orpha.net/ORDO/Orphanet_180766
Osteopetrosis with renal tubular acidosis	Osteopetrosis with renal tubular acidosis	Orphanet	2785	http://www.orpha.net/ORDO/Orphanet_2785
Horizontal gaze palsy with progressive scoliosis	Horizontal gaze palsy with progressive scoliosis	Orphanet	2744	http://www.orpha.net/ORDO/Orphanet_2744
Opsismodysplasia	Opsismodysplasia	Orphanet	2746	http://www.orpha.net/ORDO/Orphanet_2746
Peroxisomal acyl-CoA oxidase deficiency	Peroxisomal acyl-CoA oxidase deficiency	Orphanet	2971	http://www.orpha.net/ORDO/Orphanet_2971
Prune belly syndrome	Prune belly syndrome	Orphanet	2970	http://www.orpha.net/ORDO/Orphanet_2970
Proteus syndrome	Proteus syndrome	Orphanet	744	http://www.orpha.net/ORDO/Orphanet_744
Familial spontaneous pneumothorax	Familial spontaneous pneumothorax	Orphanet	2903	http://www.orpha.net/ORDO/Orphanet_2903
Neuralgic amyotrophy	Neuralgic amyotrophy	Orphanet	2901	http://www.orpha.net/ORDO/Orphanet_2901
Isolated Pierre Robin syndrome	Isolated Pierre Robin syndrome	Orphanet	718	http://www.orpha.net/ORDO/Orphanet_718
Rare gastroesophageal tumor	Rare gastroesophageal tumor	Orphanet	180821	http://www.orpha.net/ORDO/Orphanet_180821
Rare tumor of pancreas	Rare tumor of pancreas	Orphanet	180824	http://www.orpha.net/ORDO/Orphanet_180824
Rare disorder with hypogonadotropic hypogonadism	Rare disorder with hypogonadotropic hypogonadism	Orphanet	181387	http://www.orpha.net/ORDO/Orphanet_181387
Congenital rubella syndrome	Congenital rubella syndrome	Orphanet	290	http://www.orpha.net/ORDO/Orphanet_290
Costello syndrome	Costello syndrome	Orphanet	3071	http://www.orpha.net/ORDO/Orphanet_3071
Hypogonadotropic hypogonadism associated with other endocrinopathies	Hypogonadotropic hypogonadism associated with other endocrinopathies	Orphanet	181390	http://www.orpha.net/ORDO/Orphanet_181390
Other rare diabetes mellitus	Other rare diabetes mellitus	Orphanet	181381	http://www.orpha.net/ORDO/Orphanet_181381
Rare hypothalamic or pituitary disease	Rare hypothalamic or pituitary disease	Orphanet	181384	http://www.orpha.net/ORDO/Orphanet_181384
Rare diabetes mellitus type 1	Rare diabetes mellitus type 1	Orphanet	181371	http://www.orpha.net/ORDO/Orphanet_181371
Pycnodysostosis	Pycnodysostosis	Orphanet	763	http://www.orpha.net/ORDO/Orphanet_763
Rare diabetes mellitus type 2	Rare diabetes mellitus type 2	Orphanet	181376	http://www.orpha.net/ORDO/Orphanet_181376
Disorder of sex development-intellectual disability syndrome	Disorder of sex development-intellectual disability syndrome	Orphanet	2983	http://www.orpha.net/ORDO/Orphanet_2983
46,XX disorder of sex development	46,XX disorder of sex development	Orphanet	2982	http://www.orpha.net/ORDO/Orphanet_2982
Rare insulin-resistance syndrome	Rare insulin-resistance syndrome	Orphanet	181368	http://www.orpha.net/ORDO/Orphanet_181368
Pseudo-Zellweger syndrome	Pseudo-Zellweger syndrome	Orphanet	2981	http://www.orpha.net/ORDO/Orphanet_2981
Rare non-malformative breast disease	Rare non-malformative breast disease	Orphanet	180202	http://www.orpha.net/ORDO/Orphanet_180202
Congenital short bowel syndrome	Congenital short bowel syndrome	Orphanet	2301	http://www.orpha.net/ORDO/Orphanet_2301
Rare non-malformative gynecologic or obstetric disease	Rare non-malformative gynecologic or obstetric disease	Orphanet	180199	http://www.orpha.net/ORDO/Orphanet_180199
Hereditary fructose intolerance	Hereditary fructose intolerance	Orphanet	469	http://www.orpha.net/ORDO/Orphanet_469
Anomaly of puberty or/and menstrual cycle	Anomaly of puberty or/and menstrual cycle	Orphanet	180208	http://www.orpha.net/ORDO/Orphanet_180208
Jacobsen syndrome	Jacobsen syndrome	Orphanet	2308	http://www.orpha.net/ORDO/Orphanet_2308
Rare non-malformative uterovaginal or vulvovaginal disease	Rare non-malformative uterovaginal or vulvovaginal disease	Orphanet	180205	http://www.orpha.net/ORDO/Orphanet_180205
Joubert syndrome with oculorenal defect	Joubert syndrome with oculorenal defect	Orphanet	2318	http://www.orpha.net/ORDO/Orphanet_2318
Foveal hypoplasia-presenile cataract syndrome	Foveal hypoplasia-presenile cataract syndrome	Orphanet	2253	http://www.orpha.net/ORDO/Orphanet_2253
Isolated congenital breast hypoplasia/aplasia	Isolated congenital breast hypoplasia/aplasia	Orphanet	180188	http://www.orpha.net/ORDO/Orphanet_180188
Supernumerary breasts	Supernumerary breasts	Orphanet	180182	http://www.orpha.net/ORDO/Orphanet_180182
Syndromic breast hypoplasia/aplasia	Syndromic breast hypoplasia/aplasia	Orphanet	180193	http://www.orpha.net/ORDO/Orphanet_180193
Multiple intestinal atresia	Multiple intestinal atresia	Orphanet	2300	http://www.orpha.net/ORDO/Orphanet_2300
Embryonal carcinoma	Embryonal carcinoma	Orphanet	180226	http://www.orpha.net/ORDO/Orphanet_180226
Trichorhinophalangeal syndrome type 2	Trichorhinophalangeal syndrome type 2	Orphanet	502	http://www.orpha.net/ORDO/Orphanet_502
Polyembryoma	Polyembryoma	Orphanet	180229	http://www.orpha.net/ORDO/Orphanet_180229
Larsen-like osseous dysplasia-short stature syndrome	Larsen-like osseous dysplasia-short stature syndrome	Orphanet	2370	http://www.orpha.net/ORDO/Orphanet_2370
KID syndrome	KID syndrome	Orphanet	477	http://www.orpha.net/ORDO/Orphanet_477
Isolated cloverleaf skull syndrome	Isolated cloverleaf skull syndrome	Orphanet	2343	http://www.orpha.net/ORDO/Orphanet_2343
Rare uterine adnexal tumor	Rare uterine adnexal tumor	Orphanet	180220	http://www.orpha.net/ORDO/Orphanet_180220
Angioosteohypertrophic syndrome	Angioosteohypertrophic syndrome	Orphanet	2346	http://www.orpha.net/ORDO/Orphanet_2346
Vaginal carcinoma	Vaginal carcinoma	Orphanet	180247	http://www.orpha.net/ORDO/Orphanet_180247
Leigh syndrome	Leigh syndrome	Orphanet	506	http://www.orpha.net/ORDO/Orphanet_506
Rare breast tumor	Rare breast tumor	Orphanet	180250	http://www.orpha.net/ORDO/Orphanet_180250
Congenital macroglossia	Congenital macroglossia	Orphanet	2430	http://www.orpha.net/ORDO/Orphanet_2430
Rare benign breast tumor	Rare benign breast tumor	Orphanet	180253	http://www.orpha.net/ORDO/Orphanet_180253
Congenital pulmonary lymphangiectasia	Congenital pulmonary lymphangiectasia	Orphanet	2414	http://www.orpha.net/ORDO/Orphanet_2414
Congenital laryngomalacia	Congenital laryngomalacia	Orphanet	2373	http://www.orpha.net/ORDO/Orphanet_2373
Mixed germ cell tumor	Mixed germ cell tumor	Orphanet	180234	http://www.orpha.net/ORDO/Orphanet_180234
Benign tumor of fallopian tubes	Benign tumor of fallopian tubes	Orphanet	180237	http://www.orpha.net/ORDO/Orphanet_180237
Laurence-Moon syndrome	Laurence-Moon syndrome	Orphanet	2377	http://www.orpha.net/ORDO/Orphanet_2377
Congenital laryngeal web	Congenital laryngeal web	Orphanet	2374	http://www.orpha.net/ORDO/Orphanet_2374
Malignant tumor of fallopian tubes	Malignant tumor of fallopian tubes	Orphanet	180242	http://www.orpha.net/ORDO/Orphanet_180242
MASA syndrome	MASA syndrome	Orphanet	2466	http://www.orpha.net/ORDO/Orphanet_2466
Paget disease of the nipple	Paget disease of the nipple	Orphanet	180275	http://www.orpha.net/ORDO/Orphanet_180275
Marshall syndrome	Marshall syndrome	Orphanet	560	http://www.orpha.net/ORDO/Orphanet_560
Muir-Torre syndrome	Muir-Torre syndrome	Orphanet	587	http://www.orpha.net/ORDO/Orphanet_587
NON RARE IN EUROPE: Benign ductal tumor of breast	NON RARE IN EUROPE: Benign ductal tumor of breast	Orphanet	180284	http://www.orpha.net/ORDO/Orphanet_180284
Moebius syndrome	Moebius syndrome	Orphanet	570	http://www.orpha.net/ORDO/Orphanet_570
Short rib-polydactyly syndrome	Short rib-polydactyly syndrome	Orphanet	1505	http://www.orpha.net/ORDO/Orphanet_1505
Rare malignant breast tumor	Rare malignant breast tumor	Orphanet	180257	http://www.orpha.net/ORDO/Orphanet_180257
Phyllodes tumor of the breast	Phyllodes tumor of the breast	Orphanet	180261	http://www.orpha.net/ORDO/Orphanet_180261
Central bilateral macrogyria	Central bilateral macrogyria	Orphanet	2431	http://www.orpha.net/ORDO/Orphanet_2431
Giant adenofibroma of the breast	Giant adenofibroma of the breast	Orphanet	180267	http://www.orpha.net/ORDO/Orphanet_180267
Congenital pulmonary airway malformation	Congenital pulmonary airway malformation	Orphanet	2444	http://www.orpha.net/ORDO/Orphanet_2444
Potassium-aggravated myotonia	Potassium-aggravated myotonia	Orphanet	612	http://www.orpha.net/ORDO/Orphanet_612
Obesity due to leptin receptor gene deficiency	Obesity due to leptin receptor gene deficiency	Orphanet	179494	http://www.orpha.net/ORDO/Orphanet_179494
Phenylketonuria	Phenylketonuria	Orphanet	716	http://www.orpha.net/ORDO/Orphanet_716
Obesity due to congenital leptin resistance	Obesity due to congenital leptin resistance	Orphanet	179490	http://www.orpha.net/ORDO/Orphanet_179490
Unilateral aplasia of the Müllerian ducts	Unilateral aplasia of the Müllerian ducts	Orphanet	180071	http://www.orpha.net/ORDO/Orphanet_180071
Partial bilateral aplasia of the Müllerian ducts	Partial bilateral aplasia of the Müllerian ducts	Orphanet	180068	http://www.orpha.net/ORDO/Orphanet_180068
Non-syndromic uterovaginal malformation	Non-syndromic uterovaginal malformation	Orphanet	180065	http://www.orpha.net/ORDO/Orphanet_180065
Classical Ehlers-Danlos syndrome	Classical Ehlers-Danlos syndrome	Orphanet	287	http://www.orpha.net/ORDO/Orphanet_287
Uterovaginal malformation	Uterovaginal malformation	Orphanet	180062	http://www.orpha.net/ORDO/Orphanet_180062
Bicervical bicornuate uterus and blind hemivagina	Bicervical bicornuate uterus and blind hemivagina	Orphanet	180106	http://www.orpha.net/ORDO/Orphanet_180106
Didelphys uterus	Didelphys uterus	Orphanet	180086	http://www.orpha.net/ORDO/Orphanet_180086
Pseudounicornuate uterus	Pseudounicornuate uterus	Orphanet	180079	http://www.orpha.net/ORDO/Orphanet_180079
True unicornuate uterus	True unicornuate uterus	Orphanet	180074	http://www.orpha.net/ORDO/Orphanet_180074
Septate uterus	Septate uterus	Orphanet	180122	http://www.orpha.net/ORDO/Orphanet_180122
NON RARE IN EUROPE: Cordiform uterus	NON RARE IN EUROPE: Cordiform uterus	Orphanet	180118	http://www.orpha.net/ORDO/Orphanet_180118
Unicervical bicornuate uterus	Unicervical bicornuate uterus	Orphanet	180114	http://www.orpha.net/ORDO/Orphanet_180114
Bicervical bicornuate uterus with patent cervix and vagina	Bicervical bicornuate uterus with patent cervix and vagina	Orphanet	180111	http://www.orpha.net/ORDO/Orphanet_180111
Bicornuate uterus	Bicornuate uterus	Orphanet	180134	http://www.orpha.net/ORDO/Orphanet_180134
Uterine hypoplasia	Uterine hypoplasia	Orphanet	180139	http://www.orpha.net/ORDO/Orphanet_180139
Complete septate uterus	Complete septate uterus	Orphanet	180126	http://www.orpha.net/ORDO/Orphanet_180126
Partial septate uterus	Partial septate uterus	Orphanet	180129	http://www.orpha.net/ORDO/Orphanet_180129
Syndromic uterovaginal malformation	Syndromic uterovaginal malformation	Orphanet	180148	http://www.orpha.net/ORDO/Orphanet_180148
Early-onset autosomal dominant Alzheimer disease	Early-onset autosomal dominant Alzheimer disease	Orphanet	1020	http://www.orpha.net/ORDO/Orphanet_1020
Rare vaginal malformation	Rare vaginal malformation	Orphanet	180151	http://www.orpha.net/ORDO/Orphanet_180151
Alport syndrome	Alport syndrome	Orphanet	63	http://www.orpha.net/ORDO/Orphanet_63
X-linked recessive ocular albinism	X-linked recessive ocular albinism	Orphanet	54	http://www.orpha.net/ORDO/Orphanet_54
Absence of uterine body	Absence of uterine body	Orphanet	180142	http://www.orpha.net/ORDO/Orphanet_180142
Uterine cervical aplasia and agenesis	Uterine cervical aplasia and agenesis	Orphanet	180145	http://www.orpha.net/ORDO/Orphanet_180145
Transverse vaginal septum	Transverse vaginal septum	Orphanet	180160	http://www.orpha.net/ORDO/Orphanet_180160
Familial isolated dilated cardiomyopathy	Familial isolated dilated cardiomyopathy	Orphanet	154	http://www.orpha.net/ORDO/Orphanet_154
Rare breast malformation	Rare breast malformation	Orphanet	180163	http://www.orpha.net/ORDO/Orphanet_180163
Fanconi anemia	Fanconi anemia	Orphanet	84	http://www.orpha.net/ORDO/Orphanet_84
Septate vagina	Septate vagina	Orphanet	180154	http://www.orpha.net/ORDO/Orphanet_180154
Proximal spinal muscular atrophy	Proximal spinal muscular atrophy	Orphanet	70	http://www.orpha.net/ORDO/Orphanet_70
Amyloidosis	Amyloidosis	Orphanet	69	http://www.orpha.net/ORDO/Orphanet_69
Longitudinal vaginal septum	Longitudinal vaginal septum	Orphanet	180157	http://www.orpha.net/ORDO/Orphanet_180157
Deficient breast volume or number	Deficient breast volume or number	Orphanet	180173	http://www.orpha.net/ORDO/Orphanet_180173
Familial juvenile hypertrophy of the breast	Familial juvenile hypertrophy of the breast	Orphanet	180176	http://www.orpha.net/ORDO/Orphanet_180176
Cockayne syndrome	Cockayne syndrome	Orphanet	191	http://www.orpha.net/ORDO/Orphanet_191
Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy	Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy	Orphanet	166	http://www.orpha.net/ORDO/Orphanet_166
NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy	NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy	Orphanet	155	http://www.orpha.net/ORDO/Orphanet_155
Excess breast volume or number	Excess breast volume or number	Orphanet	180170	http://www.orpha.net/ORDO/Orphanet_180170
Aggressive primary cutaneous T-cell lymphoma	Aggressive primary cutaneous T-cell lymphoma	Orphanet	178551	http://www.orpha.net/ORDO/Orphanet_178551
Indolent primary cutaneous T-cell lymphoma	Indolent primary cutaneous T-cell lymphoma	Orphanet	178548	http://www.orpha.net/ORDO/Orphanet_178548
Free sialic acid storage disease	Free sialic acid storage disease	Orphanet	834	http://www.orpha.net/ORDO/Orphanet_834
Indolent primary cutaneous B-cell lymphoma	Indolent primary cutaneous B-cell lymphoma	Orphanet	178557	http://www.orpha.net/ORDO/Orphanet_178557
Aggressive primary cutaneous B-cell lymphoma	Aggressive primary cutaneous B-cell lymphoma	Orphanet	178554	http://www.orpha.net/ORDO/Orphanet_178554
Familial Scheuermann disease	Familial Scheuermann disease	Orphanet	3135	http://www.orpha.net/ORDO/Orphanet_3135
Schizencephaly	Schizencephaly	Orphanet	799	http://www.orpha.net/ORDO/Orphanet_799
Primary cutaneous B-cell lymphoma	Primary cutaneous B-cell lymphoma	Orphanet	178563	http://www.orpha.net/ORDO/Orphanet_178563
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome	Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome	Orphanet	3151	http://www.orpha.net/ORDO/Orphanet_3151
Mycosis fungoides and variants	Mycosis fungoides and variants	Orphanet	178566	http://www.orpha.net/ORDO/Orphanet_178566
Silver-Russell syndrome	Silver-Russell syndrome	Orphanet	813	http://www.orpha.net/ORDO/Orphanet_813
Sirenomelia	Sirenomelia	Orphanet	3169	http://www.orpha.net/ORDO/Orphanet_3169
Sjögren-Larsson syndrome	Sjögren-Larsson syndrome	Orphanet	816	http://www.orpha.net/ORDO/Orphanet_816
Sotos syndrome	Sotos syndrome	Orphanet	821	http://www.orpha.net/ORDO/Orphanet_821
Infantile spasms-broad thumbs syndrome	Infantile spasms-broad thumbs syndrome	Orphanet	3173	http://www.orpha.net/ORDO/Orphanet_3173
Stormorken-Sjaastad-Langslet syndrome	Stormorken-Sjaastad-Langslet syndrome	Orphanet	3204	http://www.orpha.net/ORDO/Orphanet_3204
Sturge-Weber syndrome	Sturge-Weber syndrome	Orphanet	3205	http://www.orpha.net/ORDO/Orphanet_3205
Thrombocytopenia-absent radius syndrome	Thrombocytopenia-absent radius syndrome	Orphanet	3320	http://www.orpha.net/ORDO/Orphanet_3320
Acquired neutropenia	Acquired neutropenia	Orphanet	178996	http://www.orpha.net/ORDO/Orphanet_178996
Tracheal agenesis	Tracheal agenesis	Orphanet	3346	http://www.orpha.net/ORDO/Orphanet_3346
Primary immunodeficiency due to a defect in adaptive immunity	Primary immunodeficiency due to a defect in adaptive immunity	Orphanet	179006	http://www.orpha.net/ORDO/Orphanet_179006
Congenital toxoplasmosis	Congenital toxoplasmosis	Orphanet	858	http://www.orpha.net/ORDO/Orphanet_858
BIDS syndrome	BIDS syndrome	Orphanet	1245	http://www.orpha.net/ORDO/Orphanet_1245
Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome	Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome	Orphanet	3390	http://www.orpha.net/ORDO/Orphanet_3390
VACTERL/VATER association	VACTERL/VATER association	Orphanet	887	http://www.orpha.net/ORDO/Orphanet_887
Congenital varicella syndrome	Congenital varicella syndrome	Orphanet	291	http://www.orpha.net/ORDO/Orphanet_291
Cerebrotendinous xanthomatosis	Cerebrotendinous xanthomatosis	Orphanet	909	http://www.orpha.net/ORDO/Orphanet_909
Weaver syndrome	Weaver syndrome	Orphanet	3447	http://www.orpha.net/ORDO/Orphanet_3447
Chondrodysplasia-disorder of sex development syndrome	Chondrodysplasia-disorder of sex development syndrome	Orphanet	1422	http://www.orpha.net/ORDO/Orphanet_1422
Infant botulism	Infant botulism	Orphanet	178478	http://www.orpha.net/ORDO/Orphanet_178478
Intestinal botulism	Intestinal botulism	Orphanet	178481	http://www.orpha.net/ORDO/Orphanet_178481
Autosomal dominant non-syndromic intellectual disability	Autosomal dominant non-syndromic intellectual disability	Orphanet	178469	http://www.orpha.net/ORDO/Orphanet_178469
Wound botulism	Wound botulism	Orphanet	178475	http://www.orpha.net/ORDO/Orphanet_178475
X-linked myopathy with postural muscle atrophy	X-linked myopathy with postural muscle atrophy	Orphanet	178461	http://www.orpha.net/ORDO/Orphanet_178461
Hereditary myopathy with early respiratory failure	Hereditary myopathy with early respiratory failure	Orphanet	178464	http://www.orpha.net/ORDO/Orphanet_178464
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation	Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation	Orphanet	178396	http://www.orpha.net/ORDO/Orphanet_178396
Distal myopathy with anterior tibial onset	Distal myopathy with anterior tibial onset	Orphanet	178400	http://www.orpha.net/ORDO/Orphanet_178400
Congenital vertical talus	Congenital vertical talus	Orphanet	178382	http://www.orpha.net/ORDO/Orphanet_178382
Osteopetrosis-hypogammaglobulinemia syndrome	Osteopetrosis-hypogammaglobulinemia syndrome	Orphanet	178389	http://www.orpha.net/ORDO/Orphanet_178389
Alpha-sarcoglycan-related  limb-girdle muscular dystrophy R3	Alpha-sarcoglycan-related  limb-girdle muscular dystrophy R3	Orphanet	62	http://www.orpha.net/ORDO/Orphanet_62
Syndromic microphthalmia type 5	Syndromic microphthalmia type 5	Orphanet	178364	http://www.orpha.net/ORDO/Orphanet_178364
Glycogen storage disease due to muscle phosphorylase kinase deficiency	Glycogen storage disease due to muscle phosphorylase kinase deficiency	Orphanet	715	http://www.orpha.net/ORDO/Orphanet_715
Osteosclerosis-developmental delay-craniosynostosis syndrome	Osteosclerosis-developmental delay-craniosynostosis syndrome	Orphanet	178377	http://www.orpha.net/ORDO/Orphanet_178377
Fructose-1,6-bisphosphatase deficiency	Fructose-1,6-bisphosphatase deficiency	Orphanet	348	http://www.orpha.net/ORDO/Orphanet_348
Aromatase excess syndrome	Aromatase excess syndrome	Orphanet	178345	http://www.orpha.net/ORDO/Orphanet_178345
Smith-McCort dysplasia	Smith-McCort dysplasia	Orphanet	178355	http://www.orpha.net/ORDO/Orphanet_178355
UV-sensitive syndrome	UV-sensitive syndrome	Orphanet	178338	http://www.orpha.net/ORDO/Orphanet_178338
Alpha-N-acetylgalactosaminidase deficiency	Alpha-N-acetylgalactosaminidase deficiency	Orphanet	3137	http://www.orpha.net/ORDO/Orphanet_3137
NON RARE IN EUROPE: Vitiligo	NON RARE IN EUROPE: Vitiligo	Orphanet	3435	http://www.orpha.net/ORDO/Orphanet_3435
Inflammatory myofibroblastic tumor	Inflammatory myofibroblastic tumor	Orphanet	178342	http://www.orpha.net/ORDO/Orphanet_178342
Primary cutaneous diffuse large B-cell lymphoma, leg type	Primary cutaneous diffuse large B-cell lymphoma, leg type	Orphanet	178544	http://www.orpha.net/ORDO/Orphanet_178544
Primary cutaneous follicle center lymphoma	Primary cutaneous follicle center lymphoma	Orphanet	178540	http://www.orpha.net/ORDO/Orphanet_178540
Behçet disease	Behçet disease	Orphanet	117	http://www.orpha.net/ORDO/Orphanet_117
Polymyositis	Polymyositis	Orphanet	732	http://www.orpha.net/ORDO/Orphanet_732
Primary cutaneous marginal zone B-cell lymphoma	Primary cutaneous marginal zone B-cell lymphoma	Orphanet	178536	http://www.orpha.net/ORDO/Orphanet_178536
Primary cutaneous gamma/delta-positive T-cell lymphoma	Primary cutaneous gamma/delta-positive T-cell lymphoma	Orphanet	178533	http://www.orpha.net/ORDO/Orphanet_178533
Dermatomyositis	Dermatomyositis	Orphanet	221	http://www.orpha.net/ORDO/Orphanet_221
Multiminicore myopathy	Multiminicore myopathy	Orphanet	598	http://www.orpha.net/ORDO/Orphanet_598
Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma	Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma	Orphanet	178528	http://www.orpha.net/ORDO/Orphanet_178528
Sporadic Creutzfeldt-Jakob disease	Sporadic Creutzfeldt-Jakob disease	Orphanet	204	http://www.orpha.net/ORDO/Orphanet_204
Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma	Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma	Orphanet	178522	http://www.orpha.net/ORDO/Orphanet_178522
Localized pagetoid reticulosis	Localized pagetoid reticulosis	Orphanet	178517	http://www.orpha.net/ORDO/Orphanet_178517
Folliculotropic mycosis fungoides	Folliculotropic mycosis fungoides	Orphanet	178512	http://www.orpha.net/ORDO/Orphanet_178512
Perry syndrome	Perry syndrome	Orphanet	178509	http://www.orpha.net/ORDO/Orphanet_178509
Brain calcification, Rajab type	Brain calcification, Rajab type	Orphanet	178506	http://www.orpha.net/ORDO/Orphanet_178506
Dursun syndrome	Dursun syndrome	Orphanet	178503	http://www.orpha.net/ORDO/Orphanet_178503
Inclusion body myositis	Inclusion body myositis	Orphanet	611	http://www.orpha.net/ORDO/Orphanet_611
Myopic macular degeneration	Myopic macular degeneration	Orphanet	178493	http://www.orpha.net/ORDO/Orphanet_178493
Adult intestinal botulism	Adult intestinal botulism	Orphanet	178487	http://www.orpha.net/ORDO/Orphanet_178487
Symptomatic form of hemophilia A in female carriers	Symptomatic form of hemophilia A in female carriers	Orphanet	177926	http://www.orpha.net/ORDO/Orphanet_177926
Mucopolysaccharidosis type 3	Mucopolysaccharidosis type 3	Orphanet	581	http://www.orpha.net/ORDO/Orphanet_581
Symptomatic form of hemophilia B in female carriers	Symptomatic form of hemophilia B in female carriers	Orphanet	177929	http://www.orpha.net/ORDO/Orphanet_177929
Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations	Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations	Orphanet	178025	http://www.orpha.net/ORDO/Orphanet_178025
Hereditary spastic paraplegia	Hereditary spastic paraplegia	Orphanet	685	http://www.orpha.net/ORDO/Orphanet_685
Osteogenesis imperfecta	Osteogenesis imperfecta	Orphanet	666	http://www.orpha.net/ORDO/Orphanet_666
Central diabetes insipidus	Central diabetes insipidus	Orphanet	178029	http://www.orpha.net/ORDO/Orphanet_178029
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	Orphanet	177901	http://www.orpha.net/ORDO/Orphanet_177901
Malignant hyperthermia of anesthesia	Malignant hyperthermia of anesthesia	Orphanet	423	http://www.orpha.net/ORDO/Orphanet_423
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	Orphanet	177904	http://www.orpha.net/ORDO/Orphanet_177904
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	Orphanet	418	http://www.orpha.net/ORDO/Orphanet_418
Prader-Willi syndrome due to translocation	Prader-Willi syndrome due to translocation	Orphanet	177907	http://www.orpha.net/ORDO/Orphanet_177907
Prader-Willi syndrome due to imprinting mutation	Prader-Willi syndrome due to imprinting mutation	Orphanet	177910	http://www.orpha.net/ORDO/Orphanet_177910
Neuronal ceroid lipofuscinosis	Neuronal ceroid lipofuscinosis	Orphanet	216	http://www.orpha.net/ORDO/Orphanet_216
Glycogen storage disease due to glucose-6-phosphatase deficiency	Glycogen storage disease due to glucose-6-phosphatase deficiency	Orphanet	364	http://www.orpha.net/ORDO/Orphanet_364
Rare adult hypothyroidism	Rare adult hypothyroidism	Orphanet	177101	http://www.orpha.net/ORDO/Orphanet_177101
Gaucher disease	Gaucher disease	Orphanet	355	http://www.orpha.net/ORDO/Orphanet_355
Hirschsprung disease	Hirschsprung disease	Orphanet	388	http://www.orpha.net/ORDO/Orphanet_388
Syndromic hypothyroidism	Syndromic hypothyroidism	Orphanet	177107	http://www.orpha.net/ORDO/Orphanet_177107
Hemophilia	Hemophilia	Orphanet	448	http://www.orpha.net/ORDO/Orphanet_448
Epidermolysis bullosa simplex	Epidermolysis bullosa simplex	Orphanet	304	http://www.orpha.net/ORDO/Orphanet_304
Congenital hypogonadotropic hypogonadism	Congenital hypogonadotropic hypogonadism	Orphanet	174590	http://www.orpha.net/ORDO/Orphanet_174590
GM1 gangliosidosis	GM1 gangliosidosis	Orphanet	354	http://www.orpha.net/ORDO/Orphanet_354
Acute lung injury	Acute lung injury	Orphanet	178320	http://www.orpha.net/ORDO/Orphanet_178320
Undifferentiated embryonal sarcoma of the liver	Undifferentiated embryonal sarcoma of the liver	Orphanet	178315	http://www.orpha.net/ORDO/Orphanet_178315
Åland Islands eye disease	Åland Islands eye disease	Orphanet	178333	http://www.orpha.net/ORDO/Orphanet_178333
NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiency	NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiency	Orphanet	362	http://www.orpha.net/ORDO/Orphanet_362
Purine nucleoside phosphorylase deficiency	Purine nucleoside phosphorylase deficiency	Orphanet	760	http://www.orpha.net/ORDO/Orphanet_760
Oculopharyngeal muscular dystrophy	Oculopharyngeal muscular dystrophy	Orphanet	270	http://www.orpha.net/ORDO/Orphanet_270
8q22.1 microdeletion syndrome	8q22.1 microdeletion syndrome	Orphanet	178303	http://www.orpha.net/ORDO/Orphanet_178303
Primary ciliary dyskinesia	Primary ciliary dyskinesia	Orphanet	244	http://www.orpha.net/ORDO/Orphanet_244
Antenatal multiminicore disease with arthrogryposis multiplex congenita	Antenatal multiminicore disease with arthrogryposis multiplex congenita	Orphanet	178148	http://www.orpha.net/ORDO/Orphanet_178148
Isolated sternocostoclavicular hyperostosis	Isolated sternocostoclavicular hyperostosis	Orphanet	178311	http://www.orpha.net/ORDO/Orphanet_178311
Reticulate acropigmentation of Kitamura	Reticulate acropigmentation of Kitamura	Orphanet	178307	http://www.orpha.net/ORDO/Orphanet_178307
Myasthenia gravis	Myasthenia gravis	Orphanet	589	http://www.orpha.net/ORDO/Orphanet_589
Tuberous sclerosis complex	Tuberous sclerosis complex	Orphanet	805	http://www.orpha.net/ORDO/Orphanet_805
Usher syndrome	Usher syndrome	Orphanet	886	http://www.orpha.net/ORDO/Orphanet_886
Moderate multiminicore disease with hand involvement	Moderate multiminicore disease with hand involvement	Orphanet	178145	http://www.orpha.net/ORDO/Orphanet_178145
Waardenburg syndrome	Waardenburg syndrome	Orphanet	3440	http://www.orpha.net/ORDO/Orphanet_3440
Rare peripheral precocious puberty	Rare peripheral precocious puberty	Orphanet	178040	http://www.orpha.net/ORDO/Orphanet_178040
Pelizaeus-Merzbacher disease	Pelizaeus-Merzbacher disease	Orphanet	702	http://www.orpha.net/ORDO/Orphanet_702
Porphyria	Porphyria	Orphanet	738	http://www.orpha.net/ORDO/Orphanet_738
Familial long QT syndrome	Familial long QT syndrome	Orphanet	768	http://www.orpha.net/ORDO/Orphanet_768
Transient congenital hypothyroidism	Transient congenital hypothyroidism	Orphanet	178045	http://www.orpha.net/ORDO/Orphanet_178045
Retinitis pigmentosa	Retinitis pigmentosa	Orphanet	791	http://www.orpha.net/ORDO/Orphanet_791
Anti-glomerular basement membrane disease	Anti-glomerular basement membrane disease	Orphanet	375	http://www.orpha.net/ORDO/Orphanet_375
Eosinophilic granulomatosis with polyangiitis	Eosinophilic granulomatosis with polyangiitis	Orphanet	183	http://www.orpha.net/ORDO/Orphanet_183
Allergic bronchopulmonary aspergillosis	Allergic bronchopulmonary aspergillosis	Orphanet	1164	http://www.orpha.net/ORDO/Orphanet_1164
Locked-in syndrome	Locked-in syndrome	Orphanet	2406	http://www.orpha.net/ORDO/Orphanet_2406
Leptospirosis	Leptospirosis	Orphanet	509	http://www.orpha.net/ORDO/Orphanet_509
Immunoglobulin A vasculitis	Immunoglobulin A vasculitis	Orphanet	761	http://www.orpha.net/ORDO/Orphanet_761
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Orphanet	2131	http://www.orpha.net/ORDO/Orphanet_2131
Primary cutaneous T-cell lymphoma	Primary cutaneous T-cell lymphoma	Orphanet	171901	http://www.orpha.net/ORDO/Orphanet_171901
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	Orphanet	713	http://www.orpha.net/ORDO/Orphanet_713
B-cell non-Hodgkin lymphoma	B-cell non-Hodgkin lymphoma	Orphanet	171915	http://www.orpha.net/ORDO/Orphanet_171915
Glycogen storage disease due to aldolase A deficiency	Glycogen storage disease due to aldolase A deficiency	Orphanet	57	http://www.orpha.net/ORDO/Orphanet_57
Myeloid hemopathy	Myeloid hemopathy	Orphanet	171895	http://www.orpha.net/ORDO/Orphanet_171895
Lymphoid hemopathy	Lymphoid hemopathy	Orphanet	171898	http://www.orpha.net/ORDO/Orphanet_171898
Fibrous dysplasia of bone	Fibrous dysplasia of bone	Orphanet	249	http://www.orpha.net/ORDO/Orphanet_249
Congenital myopathy with cores	Congenital myopathy with cores	Orphanet	172976	http://www.orpha.net/ORDO/Orphanet_172976
Autosomal dominant keratitis	Autosomal dominant keratitis	Orphanet	2334	http://www.orpha.net/ORDO/Orphanet_2334
T-cell non-Hodgkin lymphoma	T-cell non-Hodgkin lymphoma	Orphanet	171918	http://www.orpha.net/ORDO/Orphanet_171918
Leydig cell hypoplasia	Leydig cell hypoplasia	Orphanet	755	http://www.orpha.net/ORDO/Orphanet_755
Trisomy 10p	Trisomy 10p	Orphanet	171929	http://www.orpha.net/ORDO/Orphanet_171929
Citrullinemia	Citrullinemia	Orphanet	187	http://www.orpha.net/ORDO/Orphanet_187
Adenylosuccinate lyase deficiency	Adenylosuccinate lyase deficiency	Orphanet	46	http://www.orpha.net/ORDO/Orphanet_46
Congenital hypothyroidism	Congenital hypothyroidism	Orphanet	442	http://www.orpha.net/ORDO/Orphanet_442
X-linked adrenoleukodystrophy	X-linked adrenoleukodystrophy	Orphanet	43	http://www.orpha.net/ORDO/Orphanet_43
Sialuria	Sialuria	Orphanet	3166	http://www.orpha.net/ORDO/Orphanet_3166
Sitosterolemia	Sitosterolemia	Orphanet	2882	http://www.orpha.net/ORDO/Orphanet_2882
Shigellosis	Shigellosis	Orphanet	810	http://www.orpha.net/ORDO/Orphanet_810
Eosinophilic fasciitis	Eosinophilic fasciitis	Orphanet	3165	http://www.orpha.net/ORDO/Orphanet_3165
Primary pulmonary lymphoma	Primary pulmonary lymphoma	Orphanet	2420	http://www.orpha.net/ORDO/Orphanet_2420
Microscopic polyangiitis	Microscopic polyangiitis	Orphanet	727	http://www.orpha.net/ORDO/Orphanet_727
Granulomatosis with polyangiitis	Granulomatosis with polyangiitis	Orphanet	900	http://www.orpha.net/ORDO/Orphanet_900
NON RARE IN EUROPE: Polycystic ovary syndrome	NON RARE IN EUROPE: Polycystic ovary syndrome	Orphanet	3185	http://www.orpha.net/ORDO/Orphanet_3185
Trichinellosis	Trichinellosis	Orphanet	863	http://www.orpha.net/ORDO/Orphanet_863
Parkinsonian-pyramidal syndrome	Parkinsonian-pyramidal syndrome	Orphanet	171695	http://www.orpha.net/ORDO/Orphanet_171695
Beta-ketothiolase deficiency	Beta-ketothiolase deficiency	Orphanet	134	http://www.orpha.net/ORDO/Orphanet_134
Diffuse panbronchiolitis	Diffuse panbronchiolitis	Orphanet	171700	http://www.orpha.net/ORDO/Orphanet_171700
Pulmonary agenesis	Pulmonary agenesis	Orphanet	984	http://www.orpha.net/ORDO/Orphanet_984
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome	Orphanet	171703	http://www.orpha.net/ORDO/Orphanet_171703
Short stature-delayed bone age due to thyroid hormone metabolism deficiency	Short stature-delayed bone age due to thyroid hormone metabolism deficiency	Orphanet	171706	http://www.orpha.net/ORDO/Orphanet_171706
Male infertility due to globozoospermia	Male infertility due to globozoospermia	Orphanet	171709	http://www.orpha.net/ORDO/Orphanet_171709
Amish infantile epilepsy syndrome	Amish infantile epilepsy syndrome	Orphanet	171714	http://www.orpha.net/ORDO/Orphanet_171714
Cutis laxa-Marfanoid syndrome	Cutis laxa-Marfanoid syndrome	Orphanet	171719	http://www.orpha.net/ORDO/Orphanet_171719
Aspergillosis	Aspergillosis	Orphanet	1163	http://www.orpha.net/ORDO/Orphanet_1163
White sponge nevus	White sponge nevus	Orphanet	171723	http://www.orpha.net/ORDO/Orphanet_171723
Hereditary xanthinuria	Hereditary xanthinuria	Orphanet	3467	http://www.orpha.net/ORDO/Orphanet_3467
Limbal stem cell deficiency	Limbal stem cell deficiency	Orphanet	171673	http://www.orpha.net/ORDO/Orphanet_171673
Periventricular leukomalacia	Periventricular leukomalacia	Orphanet	171676	http://www.orpha.net/ORDO/Orphanet_171676
Maple syrup urine disease	Maple syrup urine disease	Orphanet	511	http://www.orpha.net/ORDO/Orphanet_511
Lissencephaly due to TUBA1A mutation	Lissencephaly due to TUBA1A mutation	Orphanet	171680	http://www.orpha.net/ORDO/Orphanet_171680
Glutathione synthetase deficiency	Glutathione synthetase deficiency	Orphanet	32	http://www.orpha.net/ORDO/Orphanet_32
Idiopathic bilateral vestibulopathy	Idiopathic bilateral vestibulopathy	Orphanet	171684	http://www.orpha.net/ORDO/Orphanet_171684
Metabolic myopathy due to lactate transporter defect	Metabolic myopathy due to lactate transporter defect	Orphanet	171690	http://www.orpha.net/ORDO/Orphanet_171690
Methylmalonic acidemia with homocystinuria	Methylmalonic acidemia with homocystinuria	Orphanet	26	http://www.orpha.net/ORDO/Orphanet_26
Autosomal dominant spastic paraplegia type 42	Autosomal dominant spastic paraplegia type 42	Orphanet	171863	http://www.orpha.net/ORDO/Orphanet_171863
Intellectual disability-cataracts-kyphosis syndrome	Intellectual disability-cataracts-kyphosis syndrome	Orphanet	171860	http://www.orpha.net/ORDO/Orphanet_171860
Renal pseudohypoaldosteronism type 1	Renal pseudohypoaldosteronism type 1	Orphanet	171871	http://www.orpha.net/ORDO/Orphanet_171871
Exstrophy-epispadias complex	Exstrophy-epispadias complex	Orphanet	322	http://www.orpha.net/ORDO/Orphanet_322
Spondyloepimetaphyseal dysplasia, aggrecan type	Spondyloepimetaphyseal dysplasia, aggrecan type	Orphanet	171866	http://www.orpha.net/ORDO/Orphanet_171866
Gastroschisis	Gastroschisis	Orphanet	2368	http://www.orpha.net/ORDO/Orphanet_2368
Cap myopathy	Cap myopathy	Orphanet	171881	http://www.orpha.net/ORDO/Orphanet_171881
Autosomal recessive primary microcephaly	Autosomal recessive primary microcephaly	Orphanet	2512	http://www.orpha.net/ORDO/Orphanet_2512
Non-syndromic polydactyly	Non-syndromic polydactyly	Orphanet	2913	http://www.orpha.net/ORDO/Orphanet_2913
Generalized pseudohypoaldosteronism type 1	Generalized pseudohypoaldosteronism type 1	Orphanet	171876	http://www.orpha.net/ORDO/Orphanet_171876
Rare form of salmonellosis	Rare form of salmonellosis	Orphanet	795	http://www.orpha.net/ORDO/Orphanet_795
Myopathy with hexagonally cross-linked tubular arrays	Myopathy with hexagonally cross-linked tubular arrays	Orphanet	171889	http://www.orpha.net/ORDO/Orphanet_171889
Sarcoidosis	Sarcoidosis	Orphanet	797	http://www.orpha.net/ORDO/Orphanet_797
Cylindrical spirals myopathy	Cylindrical spirals myopathy	Orphanet	171886	http://www.orpha.net/ORDO/Orphanet_171886
Amelogenesis imperfecta-gingival hyperplasia syndrome	Amelogenesis imperfecta-gingival hyperplasia syndrome	Orphanet	171836	http://www.orpha.net/ORDO/Orphanet_171836
Juvenile idiopathic arthritis	Juvenile idiopathic arthritis	Orphanet	92	http://www.orpha.net/ORDO/Orphanet_92
6q16 microdeletion syndrome	6q16 microdeletion syndrome	Orphanet	171829	http://www.orpha.net/ORDO/Orphanet_171829
Atresia of small intestine	Atresia of small intestine	Orphanet	1201	http://www.orpha.net/ORDO/Orphanet_1201
Blindness-scoliosis-arachnodactyly syndrome	Blindness-scoliosis-arachnodactyly syndrome	Orphanet	171844	http://www.orpha.net/ORDO/Orphanet_171844
Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome	Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome	Orphanet	171839	http://www.orpha.net/ORDO/Orphanet_171839
Larynx atresia	Larynx atresia	Orphanet	1202	http://www.orpha.net/ORDO/Orphanet_1202
Esophageal atresia	Esophageal atresia	Orphanet	1199	http://www.orpha.net/ORDO/Orphanet_1199
MEDNIK syndrome	MEDNIK syndrome	Orphanet	171851	http://www.orpha.net/ORDO/Orphanet_171851
Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome	Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome	Orphanet	171848	http://www.orpha.net/ORDO/Orphanet_171848
Brucellosis	Brucellosis	Orphanet	1304	http://www.orpha.net/ORDO/Orphanet_1304
Cholera	Cholera	Orphanet	173	http://www.orpha.net/ORDO/Orphanet_173
Familial chondromalacia patellae	Familial chondromalacia patellae	Orphanet	1428	http://www.orpha.net/ORDO/Orphanet_1428
Paroxysmal dystonia	Paroxysmal dystonia	Orphanet	200037	http://www.orpha.net/ORDO/Orphanet_200037
Tetralogy of Fallot	Tetralogy of Fallot	Orphanet	3303	http://www.orpha.net/ORDO/Orphanet_3303
Immunodeficiency with factor I anomaly	Immunodeficiency with factor I anomaly	Orphanet	200418	http://www.orpha.net/ORDO/Orphanet_200418
Autosomal dominant polycystic kidney disease	Autosomal dominant polycystic kidney disease	Orphanet	730	http://www.orpha.net/ORDO/Orphanet_730
Immunodeficiency with factor H anomaly	Immunodeficiency with factor H anomaly	Orphanet	200421	http://www.orpha.net/ORDO/Orphanet_200421
Autosomal dominant severe congenital neutropenia	Autosomal dominant severe congenital neutropenia	Orphanet	486	http://www.orpha.net/ORDO/Orphanet_486
Tricuspid atresia	Tricuspid atresia	Orphanet	1209	http://www.orpha.net/ORDO/Orphanet_1209
Isolated encephalocele	Isolated encephalocele	Orphanet	199647	http://www.orpha.net/ORDO/Orphanet_199647
Autosomal recessive spastic ataxia of Charlevoix-Saguenay	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	Orphanet	98	http://www.orpha.net/ORDO/Orphanet_98
NON RARE IN EUROPE: Ventricular septal defect	NON RARE IN EUROPE: Ventricular septal defect	Orphanet	1480	http://www.orpha.net/ORDO/Orphanet_1480
Interatrial communication	Interatrial communication	Orphanet	1478	http://www.orpha.net/ORDO/Orphanet_1478
Congenital factor XII deficiency	Congenital factor XII deficiency	Orphanet	330	http://www.orpha.net/ORDO/Orphanet_330
Gonococcal conjunctivitis	Gonococcal conjunctivitis	Orphanet	1482	http://www.orpha.net/ORDO/Orphanet_1482
Evans syndrome	Evans syndrome	Orphanet	1959	http://www.orpha.net/ORDO/Orphanet_1959
Alveolar echinococcosis	Alveolar echinococcosis	Orphanet	284	http://www.orpha.net/ORDO/Orphanet_284
Early-onset cerebellar ataxia with retained tendon reflexes	Early-onset cerebellar ataxia with retained tendon reflexes	Orphanet	1177	http://www.orpha.net/ORDO/Orphanet_1177
Stickler syndrome	Stickler syndrome	Orphanet	828	http://www.orpha.net/ORDO/Orphanet_828
Paroxysmal dyskinesia	Paroxysmal dyskinesia	Orphanet	1431	http://www.orpha.net/ORDO/Orphanet_1431
Congenital herpes simplex virus infection	Congenital herpes simplex virus infection	Orphanet	293	http://www.orpha.net/ORDO/Orphanet_293
Muscular dystrophy, Selcen type	Muscular dystrophy, Selcen type	Orphanet	199340	http://www.orpha.net/ORDO/Orphanet_199340
Pancreatic insufficiency-anemia-hyperostosis syndrome	Pancreatic insufficiency-anemia-hyperostosis syndrome	Orphanet	199337	http://www.orpha.net/ORDO/Orphanet_199337
Dubin-Johnson syndrome	Dubin-Johnson syndrome	Orphanet	234	http://www.orpha.net/ORDO/Orphanet_234
Thiamine-responsive encephalopathy	Thiamine-responsive encephalopathy	Orphanet	199348	http://www.orpha.net/ORDO/Orphanet_199348
Takayasu arteritis	Takayasu arteritis	Orphanet	3287	http://www.orpha.net/ORDO/Orphanet_3287
EAST syndrome	EAST syndrome	Orphanet	199343	http://www.orpha.net/ORDO/Orphanet_199343
Extramammary Paget disease	Extramammary Paget disease	Orphanet	2800	http://www.orpha.net/ORDO/Orphanet_2800
Isolated autosomal dominant hypomagnesemia, Glaudemans type	Isolated autosomal dominant hypomagnesemia, Glaudemans type	Orphanet	199326	http://www.orpha.net/ORDO/Orphanet_199326
Endophthalmitis	Endophthalmitis	Orphanet	199323	http://www.orpha.net/ORDO/Orphanet_199323
Congenital lobar emphysema	Congenital lobar emphysema	Orphanet	1928	http://www.orpha.net/ORDO/Orphanet_1928
Endocrine-cerebro-osteodysplasia syndrome	Endocrine-cerebro-osteodysplasia syndrome	Orphanet	199332	http://www.orpha.net/ORDO/Orphanet_199332
Congenital myopathy, Paradas type	Congenital myopathy, Paradas type	Orphanet	199329	http://www.orpha.net/ORDO/Orphanet_199329
Congenital mesoblastic nephroma	Congenital mesoblastic nephroma	Orphanet	2665	http://www.orpha.net/ORDO/Orphanet_2665
Wolfram syndrome	Wolfram syndrome	Orphanet	3463	http://www.orpha.net/ORDO/Orphanet_3463
Cryptosporidiosis	Cryptosporidiosis	Orphanet	1549	http://www.orpha.net/ORDO/Orphanet_1549
Non-syndromic cerebral malformation	Non-syndromic cerebral malformation	Orphanet	199633	http://www.orpha.net/ORDO/Orphanet_199633
Isolated congenital microcephaly	Isolated congenital microcephaly	Orphanet	199642	http://www.orpha.net/ORDO/Orphanet_199642
Syndrome with corpus callosum agenesis/dysgenesis as a major feature	Syndrome with corpus callosum agenesis/dysgenesis as a major feature	Orphanet	199639	http://www.orpha.net/ORDO/Orphanet_199639
Legionellosis	Legionellosis	Orphanet	549	http://www.orpha.net/ORDO/Orphanet_549
Pemphigus vulgaris	Pemphigus vulgaris	Orphanet	704	http://www.orpha.net/ORDO/Orphanet_704
Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy	Orphanet	199354	http://www.orpha.net/ORDO/Orphanet_199354
Adult-onset dystonia-parkinsonism	Adult-onset dystonia-parkinsonism	Orphanet	199351	http://www.orpha.net/ORDO/Orphanet_199351
Gerstmann-Straussler-Scheinker syndrome	Gerstmann-Straussler-Scheinker syndrome	Orphanet	356	http://www.orpha.net/ORDO/Orphanet_356
Fatal familial insomnia	Fatal familial insomnia	Orphanet	466	http://www.orpha.net/ORDO/Orphanet_466
Isolated cerebellar vermis hypoplasia	Isolated cerebellar vermis hypoplasia	Orphanet	199630	http://www.orpha.net/ORDO/Orphanet_199630
Atypical autism	Atypical autism	Orphanet	199627	http://www.orpha.net/ORDO/Orphanet_199627
NON RARE IN EUROPE: Chronic fatigue syndrome	NON RARE IN EUROPE: Chronic fatigue syndrome	Orphanet	1983	http://www.orpha.net/ORDO/Orphanet_1983
Congenital microgastria	Congenital microgastria	Orphanet	199293	http://www.orpha.net/ORDO/Orphanet_199293
Whipple disease	Whipple disease	Orphanet	3452	http://www.orpha.net/ORDO/Orphanet_3452
Harlequin syndrome	Harlequin syndrome	Orphanet	199282	http://www.orpha.net/ORDO/Orphanet_199282
Hereditary hypercarotenemia and vitamin A deficiency	Hereditary hypercarotenemia and vitamin A deficiency	Orphanet	199285	http://www.orpha.net/ORDO/Orphanet_199285
Kawasaki disease	Kawasaki disease	Orphanet	2331	http://www.orpha.net/ORDO/Orphanet_2331
Familial multiple lipomatosis	Familial multiple lipomatosis	Orphanet	199276	http://www.orpha.net/ORDO/Orphanet_199276
GTP cyclohydrolase I deficiency	GTP cyclohydrolase I deficiency	Orphanet	2102	http://www.orpha.net/ORDO/Orphanet_2102
Familial angiolipomatosis	Familial angiolipomatosis	Orphanet	199279	http://www.orpha.net/ORDO/Orphanet_199279
Calcifying aponeurotic fibroma	Calcifying aponeurotic fibroma	Orphanet	199260	http://www.orpha.net/ORDO/Orphanet_199260
Immune thrombocytopenia	Immune thrombocytopenia	Orphanet	3002	http://www.orpha.net/ORDO/Orphanet_3002
Infantile digital fibromatosis	Infantile digital fibromatosis	Orphanet	199267	http://www.orpha.net/ORDO/Orphanet_199267
Familial clubfoot with or without associated lower limb anomalies	Familial clubfoot with or without associated lower limb anomalies	Orphanet	199315	http://www.orpha.net/ORDO/Orphanet_199315
Congenital respiratory-biliary fistula	Congenital respiratory-biliary fistula	Orphanet	2040	http://www.orpha.net/ORDO/Orphanet_2040
15q13.3 microdeletion syndrome	15q13.3 microdeletion syndrome	Orphanet	199318	http://www.orpha.net/ORDO/Orphanet_199318
Tetragametic chimerism	Tetragametic chimerism	Orphanet	199310	http://www.orpha.net/ORDO/Orphanet_199310
Bronchogenic cyst	Bronchogenic cyst	Orphanet	2357	http://www.orpha.net/ORDO/Orphanet_2357
Bernard-Soulier syndrome	Bernard-Soulier syndrome	Orphanet	274	http://www.orpha.net/ORDO/Orphanet_274
Congenital atransferrinemia	Congenital atransferrinemia	Orphanet	1195	http://www.orpha.net/ORDO/Orphanet_1195
Isolated cleft lip	Isolated cleft lip	Orphanet	199302	http://www.orpha.net/ORDO/Orphanet_199302
Cleft lip/palate	Cleft lip/palate	Orphanet	199306	http://www.orpha.net/ORDO/Orphanet_199306
Acatalasemia	Acatalasemia	Orphanet	926	http://www.orpha.net/ORDO/Orphanet_926
Ramsay Hunt syndrome	Ramsay Hunt syndrome	Orphanet	3020	http://www.orpha.net/ORDO/Orphanet_3020
Congenital isolated ACTH deficiency	Congenital isolated ACTH deficiency	Orphanet	199296	http://www.orpha.net/ORDO/Orphanet_199296
Craniosynostosis	Craniosynostosis	Orphanet	1531	http://www.orpha.net/ORDO/Orphanet_1531
Late-onset isolated ACTH deficiency	Late-onset isolated ACTH deficiency	Orphanet	199299	http://www.orpha.net/ORDO/Orphanet_199299
Dihydropyrimidine dehydrogenase deficiency	Dihydropyrimidine dehydrogenase deficiency	Orphanet	1675	http://www.orpha.net/ORDO/Orphanet_1675
Cushing syndrome due to macronodular adrenal hyperplasia	Cushing syndrome due to macronodular adrenal hyperplasia	Orphanet	189427	http://www.orpha.net/ORDO/Orphanet_189427
Adenine phosphoribosyltransferase deficiency	Adenine phosphoribosyltransferase deficiency	Orphanet	976	http://www.orpha.net/ORDO/Orphanet_976
Sarcosinemia	Sarcosinemia	Orphanet	3129	http://www.orpha.net/ORDO/Orphanet_3129
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Orphanet	415	http://www.orpha.net/ORDO/Orphanet_415
6-pyruvoyl-tetrahydropterin synthase deficiency	6-pyruvoyl-tetrahydropterin synthase deficiency	Orphanet	13	http://www.orpha.net/ORDO/Orphanet_13
Superficial fibromatosis	Superficial fibromatosis	Orphanet	199257	http://www.orpha.net/ORDO/Orphanet_199257
Ménétrier disease	Ménétrier disease	Orphanet	2494	http://www.orpha.net/ORDO/Orphanet_2494
Primary sclerosing cholangitis	Primary sclerosing cholangitis	Orphanet	171	http://www.orpha.net/ORDO/Orphanet_171
Ledderhose disease	Ledderhose disease	Orphanet	199251	http://www.orpha.net/ORDO/Orphanet_199251
Congenital primary lymphedema without systemic or visceral involvement	Congenital primary lymphedema without systemic or visceral involvement	Orphanet	2416	http://www.orpha.net/ORDO/Orphanet_2416
Corticosteroid-binding globulin deficiency	Corticosteroid-binding globulin deficiency	Orphanet	199247	http://www.orpha.net/ORDO/Orphanet_199247
Nelson syndrome	Nelson syndrome	Orphanet	199244	http://www.orpha.net/ORDO/Orphanet_199244
Pulmonary capillary hemangiomatosis	Pulmonary capillary hemangiomatosis	Orphanet	199241	http://www.orpha.net/ORDO/Orphanet_199241
Atypical hemolytic uremic syndrome	Atypical hemolytic uremic syndrome	Orphanet	2134	http://www.orpha.net/ORDO/Orphanet_2134
Familial isolated hypoparathyroidism due to impaired PTH secretion	Familial isolated hypoparathyroidism due to impaired PTH secretion	Orphanet	189466	http://www.orpha.net/ORDO/Orphanet_189466
Fatal infantile lactic acidosis with methylmalonic aciduria	Fatal infantile lactic acidosis with methylmalonic aciduria	Orphanet	17	http://www.orpha.net/ORDO/Orphanet_17
Primary pigmented nodular adrenocortical disease	Primary pigmented nodular adrenocortical disease	Orphanet	189439	http://www.orpha.net/ORDO/Orphanet_189439
Pyridoxine-dependent epilepsy	Pyridoxine-dependent epilepsy	Orphanet	3006	http://www.orpha.net/ORDO/Orphanet_3006
Rhabdomyosarcoma	Rhabdomyosarcoma	Orphanet	780	http://www.orpha.net/ORDO/Orphanet_780
Rotor syndrome	Rotor syndrome	Orphanet	3111	http://www.orpha.net/ORDO/Orphanet_3111
Lennox-Gastaut syndrome	Lennox-Gastaut syndrome	Orphanet	2382	http://www.orpha.net/ORDO/Orphanet_2382
Subacute sclerosing leukoencephalitis	Subacute sclerosing leukoencephalitis	Orphanet	2806	http://www.orpha.net/ORDO/Orphanet_2806
Systemic mastocytosis	Systemic mastocytosis	Orphanet	2467	http://www.orpha.net/ORDO/Orphanet_2467
NON RARE IN EUROPE: Pernicious anemia	NON RARE IN EUROPE: Pernicious anemia	Orphanet	120	http://www.orpha.net/ORDO/Orphanet_120
Early infantile epileptic encephalopathy	Early infantile epileptic encephalopathy	Orphanet	1934	http://www.orpha.net/ORDO/Orphanet_1934
Tay-Sachs disease	Tay-Sachs disease	Orphanet	845	http://www.orpha.net/ORDO/Orphanet_845
Myoclonic-astastic epilepsy	Myoclonic-astastic epilepsy	Orphanet	1942	http://www.orpha.net/ORDO/Orphanet_1942
Early myoclonic encephalopathy	Early myoclonic encephalopathy	Orphanet	1935	http://www.orpha.net/ORDO/Orphanet_1935
Early-onset progressive encephalopathy with migrant continuous myoclonus	Early-onset progressive encephalopathy with migrant continuous myoclonus	Orphanet	1943	http://www.orpha.net/ORDO/Orphanet_1943
West syndrome	West syndrome	Orphanet	3451	http://www.orpha.net/ORDO/Orphanet_3451
Tetanus	Tetanus	Orphanet	3299	http://www.orpha.net/ORDO/Orphanet_3299
Asbestos intoxication	Asbestos intoxication	Orphanet	2302	http://www.orpha.net/ORDO/Orphanet_2302
Rabies	Rabies	Orphanet	770	http://www.orpha.net/ORDO/Orphanet_770
American trypanosomiasis	American trypanosomiasis	Orphanet	3386	http://www.orpha.net/ORDO/Orphanet_3386
Calpain-3-related  limb-girdle muscular dystrophy R1	Calpain-3-related  limb-girdle muscular dystrophy R1	Orphanet	267	http://www.orpha.net/ORDO/Orphanet_267
Complete atrioventricular septal defect	Complete atrioventricular septal defect	Orphanet	1329	http://www.orpha.net/ORDO/Orphanet_1329
Mucopolysaccharidosis type 4	Mucopolysaccharidosis type 4	Orphanet	582	http://www.orpha.net/ORDO/Orphanet_582
Autoimmune hepatitis	Autoimmune hepatitis	Orphanet	2137	http://www.orpha.net/ORDO/Orphanet_2137
Primary biliary cholangitis	Primary biliary cholangitis	Orphanet	186	http://www.orpha.net/ORDO/Orphanet_186
Arnold-Chiari malformation type II	Arnold-Chiari malformation type II	Orphanet	1136	http://www.orpha.net/ORDO/Orphanet_1136
Giant cell arteritis	Giant cell arteritis	Orphanet	397	http://www.orpha.net/ORDO/Orphanet_397
Chronic inflammatory demyelinating polyneuropathy	Chronic inflammatory demyelinating polyneuropathy	Orphanet	2932	http://www.orpha.net/ORDO/Orphanet_2932
Multiple symmetric lipomatosis	Multiple symmetric lipomatosis	Orphanet	2398	http://www.orpha.net/ORDO/Orphanet_2398
Dermatitis herpetiformis	Dermatitis herpetiformis	Orphanet	1656	http://www.orpha.net/ORDO/Orphanet_1656
Rare genetic syndromic intellectual disability	Rare genetic syndromic intellectual disability	Orphanet	183763	http://www.orpha.net/ORDO/Orphanet_183763
NON RARE IN EUROPE: Hashimoto thyroiditis	NON RARE IN EUROPE: Hashimoto thyroiditis	Orphanet	855	http://www.orpha.net/ORDO/Orphanet_855
Rare genetic immune disease	Rare genetic immune disease	Orphanet	183770	http://www.orpha.net/ORDO/Orphanet_183770
May-Hegglin thrombocytopenia	May-Hegglin thrombocytopenia	Orphanet	850	http://www.orpha.net/ORDO/Orphanet_850
Stiff person spectrum disorder	Stiff person spectrum disorder	Orphanet	3198	http://www.orpha.net/ORDO/Orphanet_3198
Rare genetic intellectual disability	Rare genetic intellectual disability	Orphanet	183757	http://www.orpha.net/ORDO/Orphanet_183757
Juvenile polyposis syndrome	Juvenile polyposis syndrome	Orphanet	2929	http://www.orpha.net/ORDO/Orphanet_2929
Budd-Chiari syndrome	Budd-Chiari syndrome	Orphanet	131	http://www.orpha.net/ORDO/Orphanet_131
Niemann-Pick disease type C	Niemann-Pick disease type C	Orphanet	646	http://www.orpha.net/ORDO/Orphanet_646
Nephroblastoma	Nephroblastoma	Orphanet	654	http://www.orpha.net/ORDO/Orphanet_654
Whooping cough	Whooping cough	Orphanet	1489	http://www.orpha.net/ORDO/Orphanet_1489
Osteochondritis dissecans	Osteochondritis dissecans	Orphanet	2764	http://www.orpha.net/ORDO/Orphanet_2764
Myeloperoxidase deficiency	Myeloperoxidase deficiency	Orphanet	2587	http://www.orpha.net/ORDO/Orphanet_2587
Tuberculosis	Tuberculosis	Orphanet	3389	http://www.orpha.net/ORDO/Orphanet_3389
Diphtheria	Diphtheria	Orphanet	1679	http://www.orpha.net/ORDO/Orphanet_1679
Botulism	Botulism	Orphanet	1267	http://www.orpha.net/ORDO/Orphanet_1267
Pityriasis rubra pilaris	Pityriasis rubra pilaris	Orphanet	2897	http://www.orpha.net/ORDO/Orphanet_2897
Guillain-Barré syndrome	Guillain-Barré syndrome	Orphanet	2103	http://www.orpha.net/ORDO/Orphanet_2103
Agammaglobulinemia	Agammaglobulinemia	Orphanet	183669	http://www.orpha.net/ORDO/Orphanet_183669
Hyper-IgM syndrome without susceptibility to opportunistic infections	Hyper-IgM syndrome without susceptibility to opportunistic infections	Orphanet	183666	http://www.orpha.net/ORDO/Orphanet_183666
Eosinophilic gastroenteritis	Eosinophilic gastroenteritis	Orphanet	2070	http://www.orpha.net/ORDO/Orphanet_2070
Hyper-IgM syndrome with susceptibility to opportunistic infections	Hyper-IgM syndrome with susceptibility to opportunistic infections	Orphanet	183663	http://www.orpha.net/ORDO/Orphanet_183663
Transient familial neonatal hyperbilirubinemia	Transient familial neonatal hyperbilirubinemia	Orphanet	2312	http://www.orpha.net/ORDO/Orphanet_2312
Neutrophil immunodeficiency syndrome	Neutrophil immunodeficiency syndrome	Orphanet	183707	http://www.orpha.net/ORDO/Orphanet_183707
Autosomal dominant hyper-IgE syndrome	Autosomal dominant hyper-IgE syndrome	Orphanet	2314	http://www.orpha.net/ORDO/Orphanet_2314
Functional neutrophil defect	Functional neutrophil defect	Orphanet	183681	http://www.orpha.net/ORDO/Orphanet_183681
Hermansky-Pudlak syndrome with neutropenia	Hermansky-Pudlak syndrome with neutropenia	Orphanet	183678	http://www.orpha.net/ORDO/Orphanet_183678
Hepatoblastoma	Hepatoblastoma	Orphanet	449	http://www.orpha.net/ORDO/Orphanet_449
Recurrent infections associated with rare immunoglobulin isotypes deficiency	Recurrent infections associated with rare immunoglobulin isotypes deficiency	Orphanet	183675	http://www.orpha.net/ORDO/Orphanet_183675
Hydranencephaly	Hydranencephaly	Orphanet	2177	http://www.orpha.net/ORDO/Orphanet_2177
Rare genetic gynecological and obstetrical diseases	Rare genetic gynecological and obstetrical diseases	Orphanet	183731	http://www.orpha.net/ORDO/Orphanet_183731
Listeriosis	Listeriosis	Orphanet	533	http://www.orpha.net/ORDO/Orphanet_533
Bacterial susceptibility due to TLR signaling pathway deficiency	Bacterial susceptibility due to TLR signaling pathway deficiency	Orphanet	183713	http://www.orpha.net/ORDO/Orphanet_183713
Laryngocele	Laryngocele	Orphanet	2372	http://www.orpha.net/ORDO/Orphanet_2372
Genetic susceptibility to infections due to particular pathogens	Genetic susceptibility to infections due to particular pathogens	Orphanet	183710	http://www.orpha.net/ORDO/Orphanet_183710
Legg-Calvé-Perthes disease	Legg-Calvé-Perthes disease	Orphanet	2380	http://www.orpha.net/ORDO/Orphanet_2380
Progressive supranuclear palsy	Progressive supranuclear palsy	Orphanet	683	http://www.orpha.net/ORDO/Orphanet_683
Pancreatoblastoma	Pancreatoblastoma	Orphanet	677	http://www.orpha.net/ORDO/Orphanet_677
NON RARE IN EUROPE: Idiopathic facial palsy	NON RARE IN EUROPE: Idiopathic facial palsy	Orphanet	2810	http://www.orpha.net/ORDO/Orphanet_2810
Genetic gynecological tumor	Genetic gynecological tumor	Orphanet	183734	http://www.orpha.net/ORDO/Orphanet_183734
Rare constitutional anemia	Rare constitutional anemia	Orphanet	183651	http://www.orpha.net/ORDO/Orphanet_183651
Severe combined immunodeficiency	Severe combined immunodeficiency	Orphanet	183660	http://www.orpha.net/ORDO/Orphanet_183660
Waardenburg-Shah syndrome	Waardenburg-Shah syndrome	Orphanet	897	http://www.orpha.net/ORDO/Orphanet_897
Rare genetic coagulation disorder	Rare genetic coagulation disorder	Orphanet	183654	http://www.orpha.net/ORDO/Orphanet_183654
Rare genetic adrenal disease	Rare genetic adrenal disease	Orphanet	183637	http://www.orpha.net/ORDO/Orphanet_183637
Seckel syndrome	Seckel syndrome	Orphanet	808	http://www.orpha.net/ORDO/Orphanet_808
Genetic polyendocrinopathy	Genetic polyendocrinopathy	Orphanet	183643	http://www.orpha.net/ORDO/Orphanet_183643
Rare genetic hypothalamic or pituitary disease	Rare genetic hypothalamic or pituitary disease	Orphanet	183628	http://www.orpha.net/ORDO/Orphanet_183628
Rare genetic diabetes mellitus	Rare genetic diabetes mellitus	Orphanet	183625	http://www.orpha.net/ORDO/Orphanet_183625
Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	Orphanet	183634	http://www.orpha.net/ORDO/Orphanet_183634
Lown-Ganong-Levine syndrome	Lown-Ganong-Levine syndrome	Orphanet	844	http://www.orpha.net/ORDO/Orphanet_844
Rare genetic thyroid disease	Rare genetic thyroid disease	Orphanet	183631	http://www.orpha.net/ORDO/Orphanet_183631
Genetic neuro-ophthalmological disease	Genetic neuro-ophthalmological disease	Orphanet	183616	http://www.orpha.net/ORDO/Orphanet_183616
Caudal regression sequence	Caudal regression sequence	Orphanet	3027	http://www.orpha.net/ORDO/Orphanet_3027
Genetic respiratory malformation	Genetic respiratory malformation	Orphanet	183622	http://www.orpha.net/ORDO/Orphanet_183622
Genetic eye tumor	Genetic eye tumor	Orphanet	183619	http://www.orpha.net/ORDO/Orphanet_183619
Genetic lens and zonula anomaly	Genetic lens and zonula anomaly	Orphanet	183607	http://www.orpha.net/ORDO/Orphanet_183607
Hereditary chronic pancreatitis	Hereditary chronic pancreatitis	Orphanet	676	http://www.orpha.net/ORDO/Orphanet_676
Genetic thrombotic microangiopathy	Genetic thrombotic microangiopathy	Orphanet	183589	http://www.orpha.net/ORDO/Orphanet_183589
Genetic renal tubular disease	Genetic renal tubular disease	Orphanet	183592	http://www.orpha.net/ORDO/Orphanet_183592
Giant axonal neuropathy	Giant axonal neuropathy	Orphanet	643	http://www.orpha.net/ORDO/Orphanet_643
Genetic renal tumor	Genetic renal tumor	Orphanet	183595	http://www.orpha.net/ORDO/Orphanet_183595
Netherton syndrome	Netherton syndrome	Orphanet	634	http://www.orpha.net/ORDO/Orphanet_634
Campomelic dysplasia	Campomelic dysplasia	Orphanet	140	http://www.orpha.net/ORDO/Orphanet_140
Genetic branchial arch or oral-acral syndrome	Genetic branchial arch or oral-acral syndrome	Orphanet	183576	http://www.orpha.net/ORDO/Orphanet_183576
Young-onset Parkinson disease	Young-onset Parkinson disease	Orphanet	2828	http://www.orpha.net/ORDO/Orphanet_2828
Genetic malformation syndrome with odontal and/or periodontal component	Genetic malformation syndrome with odontal and/or periodontal component	Orphanet	183580	http://www.orpha.net/ORDO/Orphanet_183580
Hereditary sensory and autonomic neuropathy type 4	Hereditary sensory and autonomic neuropathy type 4	Orphanet	642	http://www.orpha.net/ORDO/Orphanet_642
Genetic head and neck malformation	Genetic head and neck malformation	Orphanet	183583	http://www.orpha.net/ORDO/Orphanet_183583
Genetic glomerular disease	Genetic glomerular disease	Orphanet	183586	http://www.orpha.net/ORDO/Orphanet_183586
Genetic developmental defect of the eye	Genetic developmental defect of the eye	Orphanet	183557	http://www.orpha.net/ORDO/Orphanet_183557
Nance-Horan syndrome	Nance-Horan syndrome	Orphanet	627	http://www.orpha.net/ORDO/Orphanet_627
Genetic malformation syndrome with short stature	Genetic malformation syndrome with short stature	Orphanet	183570	http://www.orpha.net/ORDO/Orphanet_183570
Neurofibromatosis-Noonan syndrome	Neurofibromatosis-Noonan syndrome	Orphanet	638	http://www.orpha.net/ORDO/Orphanet_638
Genetic overgrowth/obesity syndrome	Genetic overgrowth/obesity syndrome	Orphanet	183573	http://www.orpha.net/ORDO/Orphanet_183573
Congenital factor V deficiency	Congenital factor V deficiency	Orphanet	326	http://www.orpha.net/ORDO/Orphanet_326
Genetic respiratory or mediastinal malformation	Genetic respiratory or mediastinal malformation	Orphanet	183554	http://www.orpha.net/ORDO/Orphanet_183554
Liddle syndrome	Liddle syndrome	Orphanet	526	http://www.orpha.net/ORDO/Orphanet_526
Genetic visceral malformation of the liver, biliary tract, pancreas or spleen	Genetic visceral malformation of the liver, biliary tract, pancreas or spleen	Orphanet	183548	http://www.orpha.net/ORDO/Orphanet_183548
LCAT deficiency	LCAT deficiency	Orphanet	650	http://www.orpha.net/ORDO/Orphanet_650
Familial hypoaldosteronism	Familial hypoaldosteronism	Orphanet	427	http://www.orpha.net/ORDO/Orphanet_427
Genetic digestive tract malformation	Genetic digestive tract malformation	Orphanet	183545	http://www.orpha.net/ORDO/Orphanet_183545
Genetic cranial malformation	Genetic cranial malformation	Orphanet	183542	http://www.orpha.net/ORDO/Orphanet_183542
Congenital stationary night blindness	Congenital stationary night blindness	Orphanet	215	http://www.orpha.net/ORDO/Orphanet_215
Genetic renal or urinary tract malformation	Genetic renal or urinary tract malformation	Orphanet	183539	http://www.orpha.net/ORDO/Orphanet_183539
Familial Mediterranean fever	Familial Mediterranean fever	Orphanet	342	http://www.orpha.net/ORDO/Orphanet_342
Genetic congenital limb malformation	Genetic congenital limb malformation	Orphanet	183536	http://www.orpha.net/ORDO/Orphanet_183536
Choroideremia	Choroideremia	Orphanet	180	http://www.orpha.net/ORDO/Orphanet_180
Genetic multiple congenital anomalies/dysmorphic syndrome	Genetic multiple congenital anomalies/dysmorphic syndrome	Orphanet	183533	http://www.orpha.net/ORDO/Orphanet_183533
Rare genetic developmental defect during embryogenesis	Rare genetic developmental defect during embryogenesis	Orphanet	183530	http://www.orpha.net/ORDO/Orphanet_183530
Androgen insensitivity syndrome	Androgen insensitivity syndrome	Orphanet	754	http://www.orpha.net/ORDO/Orphanet_754
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	Orphanet	253	http://www.orpha.net/ORDO/Orphanet_253
Genetic bone tumor	Genetic bone tumor	Orphanet	183527	http://www.orpha.net/ORDO/Orphanet_183527
Rare genetic bone disease	Rare genetic bone disease	Orphanet	183524	http://www.orpha.net/ORDO/Orphanet_183524
Congenital factor VII deficiency	Congenital factor VII deficiency	Orphanet	327	http://www.orpha.net/ORDO/Orphanet_327
Rare genetic movement disorder	Rare genetic movement disorder	Orphanet	183521	http://www.orpha.net/ORDO/Orphanet_183521
Rare hereditary ataxia	Rare hereditary ataxia	Orphanet	183518	http://www.orpha.net/ORDO/Orphanet_183518
Rare genetic medullar disease	Rare genetic medullar disease	Orphanet	183515	http://www.orpha.net/ORDO/Orphanet_183515
NON RARE IN EUROPE: Thiopurine S-methyltransferase deficiency	NON RARE IN EUROPE: Thiopurine S-methyltransferase deficiency	Orphanet	3315	http://www.orpha.net/ORDO/Orphanet_3315
Simpson-Golabi-Behmel syndrome	Simpson-Golabi-Behmel syndrome	Orphanet	373	http://www.orpha.net/ORDO/Orphanet_373
Rare genetic epilepsy	Rare genetic epilepsy	Orphanet	183512	http://www.orpha.net/ORDO/Orphanet_183512
Rare genetic headache	Rare genetic headache	Orphanet	183509	http://www.orpha.net/ORDO/Orphanet_183509
Familial hyperaldosteronism type I	Familial hyperaldosteronism type I	Orphanet	403	http://www.orpha.net/ORDO/Orphanet_403
Genetic central nervous system and retinal vascular disease	Genetic central nervous system and retinal vascular disease	Orphanet	183503	http://www.orpha.net/ORDO/Orphanet_183503
Genetic central nervous system malformation	Genetic central nervous system malformation	Orphanet	183506	http://www.orpha.net/ORDO/Orphanet_183506
Monosomy 21	Monosomy 21	Orphanet	574	http://www.orpha.net/ORDO/Orphanet_574
Genetic neuromuscular disease	Genetic neuromuscular disease	Orphanet	183497	http://www.orpha.net/ORDO/Orphanet_183497
Genetic neurodegenerative disease	Genetic neurodegenerative disease	Orphanet	183500	http://www.orpha.net/ORDO/Orphanet_183500
Genetic photodermatosis	Genetic photodermatosis	Orphanet	183490	http://www.orpha.net/ORDO/Orphanet_183490
Genetic immune deficiency with skin involvement	Genetic immune deficiency with skin involvement	Orphanet	183494	http://www.orpha.net/ORDO/Orphanet_183494
Multiple endocrine neoplasia type 2	Multiple endocrine neoplasia type 2	Orphanet	653	http://www.orpha.net/ORDO/Orphanet_653
Differentiated thyroid carcinoma	Differentiated thyroid carcinoma	Orphanet	146	http://www.orpha.net/ORDO/Orphanet_146
Genetic subcutaneous tissue disorder	Genetic subcutaneous tissue disorder	Orphanet	183484	http://www.orpha.net/ORDO/Orphanet_183484
Genetic skin tumor	Genetic skin tumor	Orphanet	183487	http://www.orpha.net/ORDO/Orphanet_183487
Familial prostate cancer	Familial prostate cancer	Orphanet	1331	http://www.orpha.net/ORDO/Orphanet_1331
Genetic skin vascular disorder	Genetic skin vascular disorder	Orphanet	183478	http://www.orpha.net/ORDO/Orphanet_183478
Genetic mixed dermis disorder	Genetic mixed dermis disorder	Orphanet	183481	http://www.orpha.net/ORDO/Orphanet_183481
Carnitine palmitoyltransferase II deficiency	Carnitine palmitoyltransferase II deficiency	Orphanet	157	http://www.orpha.net/ORDO/Orphanet_157
Genetic dermis disorder	Genetic dermis disorder	Orphanet	183472	http://www.orpha.net/ORDO/Orphanet_183472
Alpha-thalassemia-X-linked intellectual disability syndrome	Alpha-thalassemia-X-linked intellectual disability syndrome	Orphanet	847	http://www.orpha.net/ORDO/Orphanet_847
Genetic hyperpigmentation of the skin	Genetic hyperpigmentation of the skin	Orphanet	183466	http://www.orpha.net/ORDO/Orphanet_183466
Genetic hypopigmentation of the skin	Genetic hypopigmentation of the skin	Orphanet	183469	http://www.orpha.net/ORDO/Orphanet_183469
Genetic sebaceous gland anomaly	Genetic sebaceous gland anomaly	Orphanet	183460	http://www.orpha.net/ORDO/Orphanet_183460
Ring chromosome 22 syndrome	Ring chromosome 22 syndrome	Orphanet	1446	http://www.orpha.net/ORDO/Orphanet_1446
Genetic pigmentation anomaly of the skin	Genetic pigmentation anomaly of the skin	Orphanet	183463	http://www.orpha.net/ORDO/Orphanet_183463
Genetic erythrokeratoderma	Genetic erythrokeratoderma	Orphanet	183438	http://www.orpha.net/ORDO/Orphanet_183438
Inherited ichthyosis	Inherited ichthyosis	Orphanet	183435	http://www.orpha.net/ORDO/Orphanet_183435
ICF syndrome	ICF syndrome	Orphanet	2268	http://www.orpha.net/ORDO/Orphanet_2268
Genetic porokeratosis	Genetic porokeratosis	Orphanet	183444	http://www.orpha.net/ORDO/Orphanet_183444
Genetic acrokeratoderma	Genetic acrokeratoderma	Orphanet	183441	http://www.orpha.net/ORDO/Orphanet_183441
Genetic hair anomaly	Genetic hair anomaly	Orphanet	183450	http://www.orpha.net/ORDO/Orphanet_183450
Genetic epidermal appendage anomaly	Genetic epidermal appendage anomaly	Orphanet	183447	http://www.orpha.net/ORDO/Orphanet_183447
Joubert syndrome	Joubert syndrome	Orphanet	475	http://www.orpha.net/ORDO/Orphanet_475
Holt-Oram syndrome	Holt-Oram syndrome	Orphanet	392	http://www.orpha.net/ORDO/Orphanet_392
Genetic nail anomaly	Genetic nail anomaly	Orphanet	183454	http://www.orpha.net/ORDO/Orphanet_183454
Systemic autoimmune disease	Systemic autoimmune disease	Orphanet	182228	http://www.orpha.net/ORDO/Orphanet_182228
Rare systemic disease	Rare systemic disease	Orphanet	182222	http://www.orpha.net/ORDO/Orphanet_182222
Bazex-Dupré-Christol syndrome	Bazex-Dupré-Christol syndrome	Orphanet	113	http://www.orpha.net/ORDO/Orphanet_113
Familial abdominal aortic aneurysm	Familial abdominal aortic aneurysm	Orphanet	86	http://www.orpha.net/ORDO/Orphanet_86
Rare rheumatologic disease	Rare rheumatologic disease	Orphanet	182231	http://www.orpha.net/ORDO/Orphanet_182231
46,XX gonadal dysgenesis	46,XX gonadal dysgenesis	Orphanet	243	http://www.orpha.net/ORDO/Orphanet_243
Genetic urticaria	Genetic urticaria	Orphanet	182734	http://www.orpha.net/ORDO/Orphanet_182734
Genetic epidermal disorder	Genetic epidermal disorder	Orphanet	183426	http://www.orpha.net/ORDO/Orphanet_183426
Polymalformative genetic syndrome with increased risk of developing cancer	Polymalformative genetic syndrome with increased risk of developing cancer	Orphanet	183422	http://www.orpha.net/ORDO/Orphanet_183422
Respiratory malformation	Respiratory malformation	Orphanet	182111	http://www.orpha.net/ORDO/Orphanet_182111
Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	Orphanet	136	http://www.orpha.net/ORDO/Orphanet_136
Rare urogenital tumor	Rare urogenital tumor	Orphanet	182114	http://www.orpha.net/ORDO/Orphanet_182114
Congenital bilateral absence of vas deferens	Congenital bilateral absence of vas deferens	Orphanet	48	http://www.orpha.net/ORDO/Orphanet_48
Non-syndromic urogenital tract malformation of female	Non-syndromic urogenital tract malformation of female	Orphanet	182117	http://www.orpha.net/ORDO/Orphanet_182117
Non-syndromic urogenital tract malformation of male	Non-syndromic urogenital tract malformation of male	Orphanet	182121	http://www.orpha.net/ORDO/Orphanet_182121
Non-syndromic urogenital tract malformation of male and female	Non-syndromic urogenital tract malformation of male and female	Orphanet	182124	http://www.orpha.net/ORDO/Orphanet_182124
Extragonadal germinoma	Extragonadal germinoma	Orphanet	182127	http://www.orpha.net/ORDO/Orphanet_182127
Tumor of endocrine glands	Tumor of endocrine glands	Orphanet	182130	http://www.orpha.net/ORDO/Orphanet_182130
Berardinelli-Seip congenital lipodystrophy	Berardinelli-Seip congenital lipodystrophy	Orphanet	528	http://www.orpha.net/ORDO/Orphanet_528
Severe combined immunodeficiency due to DCLRE1C deficiency	Severe combined immunodeficiency due to DCLRE1C deficiency	Orphanet	275	http://www.orpha.net/ORDO/Orphanet_275
Channelopathy with epilepsy	Channelopathy with epilepsy	Orphanet	182083	http://www.orpha.net/ORDO/Orphanet_182083
Acquired peripheral neuropathy	Acquired peripheral neuropathy	Orphanet	182086	http://www.orpha.net/ORDO/Orphanet_182086
Pulmonary arterial hypertension	Pulmonary arterial hypertension	Orphanet	182090	http://www.orpha.net/ORDO/Orphanet_182090
Interstitial lung disease	Interstitial lung disease	Orphanet	182095	http://www.orpha.net/ORDO/Orphanet_182095
Pneumoconiosis	Pneumoconiosis	Orphanet	182098	http://www.orpha.net/ORDO/Orphanet_182098
Cherubism	Cherubism	Orphanet	184	http://www.orpha.net/ORDO/Orphanet_184
Idiopathic eosinophilic pneumonia	Idiopathic eosinophilic pneumonia	Orphanet	182101	http://www.orpha.net/ORDO/Orphanet_182101
Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease	Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease	Orphanet	182104	http://www.orpha.net/ORDO/Orphanet_182104
Sideroblastic anemia	Sideroblastic anemia	Orphanet	1047	http://www.orpha.net/ORDO/Orphanet_1047
Thoracic malformation	Thoracic malformation	Orphanet	182108	http://www.orpha.net/ORDO/Orphanet_182108
Chylomicron retention disease	Chylomicron retention disease	Orphanet	71	http://www.orpha.net/ORDO/Orphanet_71
Glial tumor	Glial tumor	Orphanet	182067	http://www.orpha.net/ORDO/Orphanet_182067
Rare neuroinflammatory or neuroimmunological disease	Rare neuroinflammatory or neuroimmunological disease	Orphanet	182064	http://www.orpha.net/ORDO/Orphanet_182064
Cerebellar malformation	Cerebellar malformation	Orphanet	182061	http://www.orpha.net/ORDO/Orphanet_182061
Primary orthostatic hypotension	Primary orthostatic hypotension	Orphanet	182058	http://www.orpha.net/ORDO/Orphanet_182058
ARX-related epileptic encephalopathy	ARX-related epileptic encephalopathy	Orphanet	182079	http://www.orpha.net/ORDO/Orphanet_182079
Benign familial neonatal epilepsy	Benign familial neonatal epilepsy	Orphanet	1949	http://www.orpha.net/ORDO/Orphanet_1949
Syndromic neurometabolic disease with X-linked intellectual disability	Syndromic neurometabolic disease with X-linked intellectual disability	Orphanet	182076	http://www.orpha.net/ORDO/Orphanet_182076
Hidrotic ectodermal dysplasia	Hidrotic ectodermal dysplasia	Orphanet	189	http://www.orpha.net/ORDO/Orphanet_189
Uveal coloboma-cleft lip and palate-intellectual disability	Uveal coloboma-cleft lip and palate-intellectual disability	Orphanet	1473	http://www.orpha.net/ORDO/Orphanet_1473
Syndromic neurometabolic disease with non-X-linked intellectual disability	Syndromic neurometabolic disease with non-X-linked intellectual disability	Orphanet	182073	http://www.orpha.net/ORDO/Orphanet_182073
Rare neurodegenerative disease	Rare neurodegenerative disease	Orphanet	182070	http://www.orpha.net/ORDO/Orphanet_182070
Aplastic anemia	Aplastic anemia	Orphanet	182040	http://www.orpha.net/ORDO/Orphanet_182040
Rare thrombotic disease of hematologic origin	Rare thrombotic disease of hematologic origin	Orphanet	182054	http://www.orpha.net/ORDO/Orphanet_182054
Atrial standstill	Atrial standstill	Orphanet	1344	http://www.orpha.net/ORDO/Orphanet_1344
MYH9-related disease	MYH9-related disease	Orphanet	182050	http://www.orpha.net/ORDO/Orphanet_182050
Rare acquired hemolytic anemia	Rare acquired hemolytic anemia	Orphanet	182047	http://www.orpha.net/ORDO/Orphanet_182047
Rare constitutional hemolytic anemia	Rare constitutional hemolytic anemia	Orphanet	182043	http://www.orpha.net/ORDO/Orphanet_182043
Roberts syndrome	Roberts syndrome	Orphanet	3103	http://www.orpha.net/ORDO/Orphanet_3103
Hyperalphalipoproteinemia	Hyperalphalipoproteinemia	Orphanet	181428	http://www.orpha.net/ORDO/Orphanet_181428
Rare hypoaldosteronism	Rare hypoaldosteronism	Orphanet	181419	http://www.orpha.net/ORDO/Orphanet_181419
Rare hyperlipidemia	Rare hyperlipidemia	Orphanet	181422	http://www.orpha.net/ORDO/Orphanet_181422
Peters plus syndrome	Peters plus syndrome	Orphanet	709	http://www.orpha.net/ORDO/Orphanet_709
Rare syndromic dyslipidemia	Rare syndromic dyslipidemia	Orphanet	181437	http://www.orpha.net/ORDO/Orphanet_181437
Rare disorder with hypergonadotropic hypogonadism	Rare disorder with hypergonadotropic hypogonadism	Orphanet	181441	http://www.orpha.net/ORDO/Orphanet_181441
Rare hypolipidemia	Rare hypolipidemia	Orphanet	181431	http://www.orpha.net/ORDO/Orphanet_181431
X-linked intellectual disability with marfanoid habitus	X-linked intellectual disability with marfanoid habitus	Orphanet	776	http://www.orpha.net/ORDO/Orphanet_776
Rare hyperthyroidism	Rare hyperthyroidism	Orphanet	181399	http://www.orpha.net/ORDO/Orphanet_181399
PIBIDS syndrome	PIBIDS syndrome	Orphanet	670	http://www.orpha.net/ORDO/Orphanet_670
Syndrome with hypoparathyroidism	Syndrome with hypoparathyroidism	Orphanet	181402	http://www.orpha.net/ORDO/Orphanet_181402
NON RARE IN EUROPE: Wolff-Parkinson-White syndrome	NON RARE IN EUROPE: Wolff-Parkinson-White syndrome	Orphanet	907	http://www.orpha.net/ORDO/Orphanet_907
Growth hormone insensitivity syndrome	Growth hormone insensitivity syndrome	Orphanet	181393	http://www.orpha.net/ORDO/Orphanet_181393
Werner syndrome	Werner syndrome	Orphanet	902	http://www.orpha.net/ORDO/Orphanet_902
Rare hypothyroidism	Rare hypothyroidism	Orphanet	181396	http://www.orpha.net/ORDO/Orphanet_181396
Van der Woude syndrome	Van der Woude syndrome	Orphanet	888	http://www.orpha.net/ORDO/Orphanet_888
Adrenogenital syndrome	Adrenogenital syndrome	Orphanet	181412	http://www.orpha.net/ORDO/Orphanet_181412
Rare primary hyperaldosteronism	Rare primary hyperaldosteronism	Orphanet	181415	http://www.orpha.net/ORDO/Orphanet_181415
IBIDS syndrome	IBIDS syndrome	Orphanet	453	http://www.orpha.net/ORDO/Orphanet_453
Rare hypoparathyroidism	Rare hypoparathyroidism	Orphanet	181405	http://www.orpha.net/ORDO/Orphanet_181405
Familial progressive cardiac conduction defect	Familial progressive cardiac conduction defect	Orphanet	871	http://www.orpha.net/ORDO/Orphanet_871
Rare hyperparathyroidism	Rare hyperparathyroidism	Orphanet	181408	http://www.orpha.net/ORDO/Orphanet_181408
Distal monosomy 17q	Distal monosomy 17q	Orphanet	1597	http://www.orpha.net/ORDO/Orphanet_1597
Distal monosomy 13q	Distal monosomy 13q	Orphanet	1590	http://www.orpha.net/ORDO/Orphanet_1590
Monosomy 13q14	Monosomy 13q14	Orphanet	1587	http://www.orpha.net/ORDO/Orphanet_1587
3q13 microdeletion syndrome	3q13 microdeletion syndrome	Orphanet	1621	http://www.orpha.net/ORDO/Orphanet_1621
Distal monosomy 3p	Distal monosomy 3p	Orphanet	1620	http://www.orpha.net/ORDO/Orphanet_1620
Xp22.3 microdeletion syndrome	Xp22.3 microdeletion syndrome	Orphanet	1643	http://www.orpha.net/ORDO/Orphanet_1643
Deletion 5q35	Deletion 5q35	Orphanet	1627	http://www.orpha.net/ORDO/Orphanet_1627
Trisomy 12p	Trisomy 12p	Orphanet	1699	http://www.orpha.net/ORDO/Orphanet_1699
Non-distal trisomy 10q	Non-distal trisomy 10q	Orphanet	1695	http://www.orpha.net/ORDO/Orphanet_1695
Noonan syndrome with multiple lentigines	Noonan syndrome with multiple lentigines	Orphanet	500	http://www.orpha.net/ORDO/Orphanet_500
Leishmaniasis	Leishmaniasis	Orphanet	507	http://www.orpha.net/ORDO/Orphanet_507
Leprosy	Leprosy	Orphanet	548	http://www.orpha.net/ORDO/Orphanet_548
Duane retraction syndrome	Duane retraction syndrome	Orphanet	233	http://www.orpha.net/ORDO/Orphanet_233
Congenital isolated hyperinsulinism	Congenital isolated hyperinsulinism	Orphanet	657	http://www.orpha.net/ORDO/Orphanet_657
Conotruncal heart malformations	Conotruncal heart malformations	Orphanet	2445	http://www.orpha.net/ORDO/Orphanet_2445
Meningioma	Meningioma	Orphanet	2495	http://www.orpha.net/ORDO/Orphanet_2495
Familial or sporadic hemiplegic migraine	Familial or sporadic hemiplegic migraine	Orphanet	569	http://www.orpha.net/ORDO/Orphanet_569
NON RARE IN EUROPE: FG syndrome phenotypic spectrum	NON RARE IN EUROPE: FG syndrome phenotypic spectrum	Orphanet	323	http://www.orpha.net/ORDO/Orphanet_323
Cleft palate	Cleft palate	Orphanet	2014	http://www.orpha.net/ORDO/Orphanet_2014
Léri-Weill dyschondrosteosis	Léri-Weill dyschondrosteosis	Orphanet	240	http://www.orpha.net/ORDO/Orphanet_240
Autosomal recessive spondylocostal dysostosis	Autosomal recessive spondylocostal dysostosis	Orphanet	2311	http://www.orpha.net/ORDO/Orphanet_2311
Gitelman syndrome	Gitelman syndrome	Orphanet	358	http://www.orpha.net/ORDO/Orphanet_358
46,XY complete gonadal dysgenesis	46,XY complete gonadal dysgenesis	Orphanet	242	http://www.orpha.net/ORDO/Orphanet_242
Fraser syndrome	Fraser syndrome	Orphanet	2052	http://www.orpha.net/ORDO/Orphanet_2052
Heart defects-limb shortening syndrome	Heart defects-limb shortening syndrome	Orphanet	1354	http://www.orpha.net/ORDO/Orphanet_1354
Carey-Fineman-Ziter syndrome	Carey-Fineman-Ziter syndrome	Orphanet	1358	http://www.orpha.net/ORDO/Orphanet_1358
Isolated anorectal malformation	Isolated anorectal malformation	Orphanet	557	http://www.orpha.net/ORDO/Orphanet_557
Barth syndrome	Barth syndrome	Orphanet	111	http://www.orpha.net/ORDO/Orphanet_111
48,XXYY syndrome	48,XXYY syndrome	Orphanet	10	http://www.orpha.net/ORDO/Orphanet_10
C syndrome	C syndrome	Orphanet	1308	http://www.orpha.net/ORDO/Orphanet_1308
Nasopharyngeal carcinoma	Nasopharyngeal carcinoma	Orphanet	150	http://www.orpha.net/ORDO/Orphanet_150
Chronic beryllium disease	Chronic beryllium disease	Orphanet	133	http://www.orpha.net/ORDO/Orphanet_133
Currarino syndrome	Currarino syndrome	Orphanet	1552	http://www.orpha.net/ORDO/Orphanet_1552
Ring chromosome 8 syndrome	Ring chromosome 8 syndrome	Orphanet	1450	http://www.orpha.net/ORDO/Orphanet_1450
Ring chromosome 6 syndrome	Ring chromosome 6 syndrome	Orphanet	1448	http://www.orpha.net/ORDO/Orphanet_1448
Non-distal monosomy 10q	Non-distal monosomy 10q	Orphanet	1581	http://www.orpha.net/ORDO/Orphanet_1581
Distal monosomy 10p	Distal monosomy 10p	Orphanet	1580	http://www.orpha.net/ORDO/Orphanet_1580
Ring chromosome 1 syndrome	Ring chromosome 1 syndrome	Orphanet	1437	http://www.orpha.net/ORDO/Orphanet_1437
Progressive familial intrahepatic cholestasis	Progressive familial intrahepatic cholestasis	Orphanet	172	http://www.orpha.net/ORDO/Orphanet_172
NON RARE IN EUROPE: Cerebral cavernous malformations	NON RARE IN EUROPE: Cerebral cavernous malformations	Orphanet	164	http://www.orpha.net/ORDO/Orphanet_164
Ring chromosome 4 syndrome	Ring chromosome 4 syndrome	Orphanet	1447	http://www.orpha.net/ORDO/Orphanet_1447
Ring chromosome 20 syndrome	Ring chromosome 20 syndrome	Orphanet	1444	http://www.orpha.net/ORDO/Orphanet_1444
Ring chromosome 12 syndrome	Ring chromosome 12 syndrome	Orphanet	1439	http://www.orpha.net/ORDO/Orphanet_1439
Ring chromosome 10 syndrome	Ring chromosome 10 syndrome	Orphanet	1438	http://www.orpha.net/ORDO/Orphanet_1438
Nakajo-Nishimura syndrome	Nakajo-Nishimura syndrome	Orphanet	2615	http://www.orpha.net/ORDO/Orphanet_2615
Familial multiple nevi flammei	Familial multiple nevi flammei	Orphanet	624	http://www.orpha.net/ORDO/Orphanet_624
Inverted duplicated chromosome 15 syndrome	Inverted duplicated chromosome 15 syndrome	Orphanet	3306	http://www.orpha.net/ORDO/Orphanet_3306
Trisomy X	Trisomy X	Orphanet	3375	http://www.orpha.net/ORDO/Orphanet_3375
Tetrasomy 9p	Tetrasomy 9p	Orphanet	3310	http://www.orpha.net/ORDO/Orphanet_3310
Familial male-limited precocious puberty	Familial male-limited precocious puberty	Orphanet	3000	http://www.orpha.net/ORDO/Orphanet_3000
Normokalemic periodic paralysis	Normokalemic periodic paralysis	Orphanet	680	http://www.orpha.net/ORDO/Orphanet_680
Tetraploidy	Tetraploidy	Orphanet	3305	http://www.orpha.net/ORDO/Orphanet_3305
Spina bifida-hypospadias syndrome	Spina bifida-hypospadias syndrome	Orphanet	3176	http://www.orpha.net/ORDO/Orphanet_3176
Mosaic trisomy 16	Mosaic trisomy 16	Orphanet	1708	http://www.orpha.net/ORDO/Orphanet_1708
Mosaic trisomy 17	Mosaic trisomy 17	Orphanet	1711	http://www.orpha.net/ORDO/Orphanet_1711
Triploidy	Triploidy	Orphanet	3376	http://www.orpha.net/ORDO/Orphanet_3376
Mosaic trisomy 1	Mosaic trisomy 1	Orphanet	1692	http://www.orpha.net/ORDO/Orphanet_1692
Mosaic trisomy 12	Mosaic trisomy 12	Orphanet	1698	http://www.orpha.net/ORDO/Orphanet_1698
Mosaic trisomy 15	Mosaic trisomy 15	Orphanet	1706	http://www.orpha.net/ORDO/Orphanet_1706
Aase-Smith syndrome	Aase-Smith syndrome	Orphanet	916	http://www.orpha.net/ORDO/Orphanet_916
ABCD syndrome	ABCD syndrome	Orphanet	918	http://www.orpha.net/ORDO/Orphanet_918
Ablepharon macrostomia syndrome	Ablepharon macrostomia syndrome	Orphanet	920	http://www.orpha.net/ORDO/Orphanet_920
Ring chromosome 21 syndrome	Ring chromosome 21 syndrome	Orphanet	1445	http://www.orpha.net/ORDO/Orphanet_1445
3C syndrome	3C syndrome	Orphanet	7	http://www.orpha.net/ORDO/Orphanet_7
Acheiropodia	Acheiropodia	Orphanet	931	http://www.orpha.net/ORDO/Orphanet_931
Achalasia-microcephaly syndrome	Achalasia-microcephaly syndrome	Orphanet	929	http://www.orpha.net/ORDO/Orphanet_929
Triple A syndrome	Triple A syndrome	Orphanet	869	http://www.orpha.net/ORDO/Orphanet_869
Insulin-resistance syndrome type A	Insulin-resistance syndrome type A	Orphanet	2297	http://www.orpha.net/ORDO/Orphanet_2297
Familial nasal acilia	Familial nasal acilia	Orphanet	922	http://www.orpha.net/ORDO/Orphanet_922
Abruzzo-Erickson syndrome	Abruzzo-Erickson syndrome	Orphanet	921	http://www.orpha.net/ORDO/Orphanet_921
Vitamin B12-unresponsive methylmalonic acidemia	Vitamin B12-unresponsive methylmalonic acidemia	Orphanet	27	http://www.orpha.net/ORDO/Orphanet_27
3-hydroxyisobutyric aciduria	3-hydroxyisobutyric aciduria	Orphanet	939	http://www.orpha.net/ORDO/Orphanet_939
Oxoglutaric aciduria	Oxoglutaric aciduria	Orphanet	31	http://www.orpha.net/ORDO/Orphanet_31
Short-limb skeletal dysplasia with severe combined immunodeficiency	Short-limb skeletal dysplasia with severe combined immunodeficiency	Orphanet	935	http://www.orpha.net/ORDO/Orphanet_935
Achondrogenesis	Achondrogenesis	Orphanet	932	http://www.orpha.net/ORDO/Orphanet_932
Peripheral dysostosis	Peripheral dysostosis	Orphanet	1795	http://www.orpha.net/ORDO/Orphanet_1795
Acrodermatitis enteropathica	Acrodermatitis enteropathica	Orphanet	37	http://www.orpha.net/ORDO/Orphanet_37
Acrodysostosis	Acrodysostosis	Orphanet	950	http://www.orpha.net/ORDO/Orphanet_950
Acrocraniofacial dysostosis	Acrocraniofacial dysostosis	Orphanet	949	http://www.orpha.net/ORDO/Orphanet_949
Acalvaria	Acalvaria	Orphanet	945	http://www.orpha.net/ORDO/Orphanet_945
Acrocephalosyndactyly	Acrocephalosyndactyly	Orphanet	946	http://www.orpha.net/ORDO/Orphanet_946
Acropectorovertebral dysplasia	Acropectorovertebral dysplasia	Orphanet	957	http://www.orpha.net/ORDO/Orphanet_957
Acro-renal-mandibular syndrome	Acro-renal-mandibular syndrome	Orphanet	958	http://www.orpha.net/ORDO/Orphanet_958
Acroosteolysis dominant type	Acroosteolysis dominant type	Orphanet	955	http://www.orpha.net/ORDO/Orphanet_955
Acropectororenal dysplasia	Acropectororenal dysplasia	Orphanet	956	http://www.orpha.net/ORDO/Orphanet_956
Acrofacial dysostosis, Weyers type	Acrofacial dysostosis, Weyers type	Orphanet	952	http://www.orpha.net/ORDO/Orphanet_952
Non-distal trisomy 13q	Non-distal trisomy 13q	Orphanet	1702	http://www.orpha.net/ORDO/Orphanet_1702
Mosaic trisomy 14	Mosaic trisomy 14	Orphanet	1703	http://www.orpha.net/ORDO/Orphanet_1703
Distal trisomy 14q	Distal trisomy 14q	Orphanet	1705	http://www.orpha.net/ORDO/Orphanet_1705
17p11.2 microduplication syndrome	17p11.2 microduplication syndrome	Orphanet	1713	http://www.orpha.net/ORDO/Orphanet_1713
Trisomy 4p	Trisomy 4p	Orphanet	1738	http://www.orpha.net/ORDO/Orphanet_1738
Trisomy 5p	Trisomy 5p	Orphanet	1742	http://www.orpha.net/ORDO/Orphanet_1742
Distal trisomy 6p	Distal trisomy 6p	Orphanet	1745	http://www.orpha.net/ORDO/Orphanet_1745
Trisomy 8q	Trisomy 8q	Orphanet	1752	http://www.orpha.net/ORDO/Orphanet_1752
Trisomy Xq28	Trisomy Xq28	Orphanet	1762	http://www.orpha.net/ORDO/Orphanet_1762
TRIM32-related  limb-girdle muscular dystrophy R8	TRIM32-related  limb-girdle muscular dystrophy R8	Orphanet	1878	http://www.orpha.net/ORDO/Orphanet_1878
Muscular dystrophy-white matter spongiosis syndrome	Muscular dystrophy-white matter spongiosis syndrome	Orphanet	1877	http://www.orpha.net/ORDO/Orphanet_1877
Oculogastrointestinal muscular dystrophy	Oculogastrointestinal muscular dystrophy	Orphanet	1876	http://www.orpha.net/ORDO/Orphanet_1876
Epilepsy-microcephaly-skeletal dysplasia syndrome	Epilepsy-microcephaly-skeletal dysplasia syndrome	Orphanet	1948	http://www.orpha.net/ORDO/Orphanet_1948
Amelocerebrohypohidrotic syndrome	Amelocerebrohypohidrotic syndrome	Orphanet	1946	http://www.orpha.net/ORDO/Orphanet_1946
Fanconi syndrome-ichthyosis-dysmorphism syndrome	Fanconi syndrome-ichthyosis-dysmorphism syndrome	Orphanet	1981	http://www.orpha.net/ORDO/Orphanet_1981
Epilepsy-telangiectasia syndrome	Epilepsy-telangiectasia syndrome	Orphanet	1951	http://www.orpha.net/ORDO/Orphanet_1951
Griscelli syndrome	Griscelli syndrome	Orphanet	381	http://www.orpha.net/ORDO/Orphanet_381
Familial visceral myopathy	Familial visceral myopathy	Orphanet	2604	http://www.orpha.net/ORDO/Orphanet_2604
Carnitine palmitoyl transferase 1A deficiency	Carnitine palmitoyl transferase 1A deficiency	Orphanet	156	http://www.orpha.net/ORDO/Orphanet_156
Mitochondrial myopathy-lactic acidosis-deafness syndrome	Mitochondrial myopathy-lactic acidosis-deafness syndrome	Orphanet	2597	http://www.orpha.net/ORDO/Orphanet_2597
Mitochondrial myopathy and sideroblastic anemia	Mitochondrial myopathy and sideroblastic anemia	Orphanet	2598	http://www.orpha.net/ORDO/Orphanet_2598
Thumb stiffness-brachydactyly-intellectual disability syndrome	Thumb stiffness-brachydactyly-intellectual disability syndrome	Orphanet	1078	http://www.orpha.net/ORDO/Orphanet_1078
Dental ankylosis	Dental ankylosis	Orphanet	1077	http://www.orpha.net/ORDO/Orphanet_1077
Ankyloblepharon filiforme adnatum-imperforate anus syndrome	Ankyloblepharon filiforme adnatum-imperforate anus syndrome	Orphanet	1074	http://www.orpha.net/ORDO/Orphanet_1074
Ankyloblepharon filiforme adnatum-cleft palate syndrome	Ankyloblepharon filiforme adnatum-cleft palate syndrome	Orphanet	1072	http://www.orpha.net/ORDO/Orphanet_1072
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	Orphanet	1071	http://www.orpha.net/ORDO/Orphanet_1071
Aniridia-absent patella syndrome	Aniridia-absent patella syndrome	Orphanet	1069	http://www.orpha.net/ORDO/Orphanet_1069
Aniridia-intellectual disability syndrome	Aniridia-intellectual disability syndrome	Orphanet	1068	http://www.orpha.net/ORDO/Orphanet_1068
Aniridia-ptosis-intellectual disability-familial obesity syndrome	Aniridia-ptosis-intellectual disability-familial obesity syndrome	Orphanet	1067	http://www.orpha.net/ORDO/Orphanet_1067
Aniridia-renal agenesis-psychomotor retardation syndrome	Aniridia-renal agenesis-psychomotor retardation syndrome	Orphanet	1064	http://www.orpha.net/ORDO/Orphanet_1064
Hereditary neurocutaneous malformation	Hereditary neurocutaneous malformation	Orphanet	1062	http://www.orpha.net/ORDO/Orphanet_1062
Systemic cystic angiomatosis-Seip syndrome	Systemic cystic angiomatosis-Seip syndrome	Orphanet	1060	http://www.orpha.net/ORDO/Orphanet_1060
Rare sucking/swallowing disorder	Rare sucking/swallowing disorder	Orphanet	138221	http://www.orpha.net/ORDO/Orphanet_138221
Vein of Galen aneurysmal malformation	Vein of Galen aneurysmal malformation	Orphanet	1053	http://www.orpha.net/ORDO/Orphanet_1053
Sucking/swallowing disorder associated with a neuromuscular disease	Sucking/swallowing disorder associated with a neuromuscular disease	Orphanet	138115	http://www.orpha.net/ORDO/Orphanet_138115
Sucking/swallowing disorder associated with cerebellar anomalies	Sucking/swallowing disorder associated with cerebellar anomalies	Orphanet	138112	http://www.orpha.net/ORDO/Orphanet_138112
Congenital left ventricular aneurysm	Congenital left ventricular aneurysm	Orphanet	1055	http://www.orpha.net/ORDO/Orphanet_1055
Sucking/swallowing disorder associated with posterior fossa anomalies	Sucking/swallowing disorder associated with posterior fossa anomalies	Orphanet	138109	http://www.orpha.net/ORDO/Orphanet_138109
Sucking/swallowing disorder associated with basal ganglia anomalies	Sucking/swallowing disorder associated with basal ganglia anomalies	Orphanet	138104	http://www.orpha.net/ORDO/Orphanet_138104
Mosaic variegated aneuploidy syndrome	Mosaic variegated aneuploidy syndrome	Orphanet	1052	http://www.orpha.net/ORDO/Orphanet_1052
Sucking/swallowing disorder associated with suprabulbar anomalies	Sucking/swallowing disorder associated with suprabulbar anomalies	Orphanet	138101	http://www.orpha.net/ORDO/Orphanet_138101
Sucking/swallowing disorder associated with neurologic anomalies	Sucking/swallowing disorder associated with neurologic anomalies	Orphanet	138095	http://www.orpha.net/ORDO/Orphanet_138095
Sucking/swallowing disorder associated to cervicofacial or esophageal malformation	Sucking/swallowing disorder associated to cervicofacial or esophageal malformation	Orphanet	138084	http://www.orpha.net/ORDO/Orphanet_138084
Metaphyseal anadysplasia	Metaphyseal anadysplasia	Orphanet	1040	http://www.orpha.net/ORDO/Orphanet_1040
Syndromic sucking/swallowing disorder with unidentifyed syndrome	Syndromic sucking/swallowing disorder with unidentifyed syndrome	Orphanet	138080	http://www.orpha.net/ORDO/Orphanet_138080
Hydrops fetalis	Hydrops fetalis	Orphanet	1041	http://www.orpha.net/ORDO/Orphanet_1041
Sucking/swallowing disorder associated to a chromosomal anomaly	Sucking/swallowing disorder associated to a chromosomal anomaly	Orphanet	138076	http://www.orpha.net/ORDO/Orphanet_138076
Arthrogryposis multiplex congenita	Arthrogryposis multiplex congenita	Orphanet	1037	http://www.orpha.net/ORDO/Orphanet_1037
Sucking/swallowing disorder associated with an identified syndrome	Sucking/swallowing disorder associated with an identified syndrome	Orphanet	138072	http://www.orpha.net/ORDO/Orphanet_138072
Aprosencephaly cerebellar dysgenesis	Aprosencephaly cerebellar dysgenesis	Orphanet	1126	http://www.orpha.net/ORDO/Orphanet_1126
Ocular motor apraxia, Cogan type	Ocular motor apraxia, Cogan type	Orphanet	1125	http://www.orpha.net/ORDO/Orphanet_1125
Radial deficiency-tibial hypoplasia syndrome	Radial deficiency-tibial hypoplasia syndrome	Orphanet	1121	http://www.orpha.net/ORDO/Orphanet_1121
Lung agenesis-heart defect-thumb anomalies syndrome	Lung agenesis-heart defect-thumb anomalies syndrome	Orphanet	1120	http://www.orpha.net/ORDO/Orphanet_1120
Ulnar hypoplasia-split foot syndrome	Ulnar hypoplasia-split foot syndrome	Orphanet	1122	http://www.orpha.net/ORDO/Orphanet_1122
Aplasia cutis congenita-intestinal lymphangiectasia syndrome	Aplasia cutis congenita-intestinal lymphangiectasia syndrome	Orphanet	1116	http://www.orpha.net/ORDO/Orphanet_1116
Fibular aplasia-ectrodactyly syndrome	Fibular aplasia-ectrodactyly syndrome	Orphanet	1118	http://www.orpha.net/ORDO/Orphanet_1118
Aplasia cutis-myopia syndrome	Aplasia cutis-myopia syndrome	Orphanet	1117	http://www.orpha.net/ORDO/Orphanet_1117
Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome	Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome	Orphanet	1110	http://www.orpha.net/ORDO/Orphanet_1110
Aphalangy-syndactyly-microcephaly syndrome	Aphalangy-syndactyly-microcephaly syndrome	Orphanet	1113	http://www.orpha.net/ORDO/Orphanet_1113
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome	Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome	Orphanet	1112	http://www.orpha.net/ORDO/Orphanet_1112
Microphthalmia with limb anomalies	Microphthalmia with limb anomalies	Orphanet	1106	http://www.orpha.net/ORDO/Orphanet_1106
Antley-Bixler syndrome	Antley-Bixler syndrome	Orphanet	83	http://www.orpha.net/ORDO/Orphanet_83
Anophthalmia-hypothalamo-pituitary insufficiency syndrome	Anophthalmia-hypothalamo-pituitary insufficiency syndrome	Orphanet	1102	http://www.orpha.net/ORDO/Orphanet_1102
Anophthalmia plus syndrome	Anophthalmia plus syndrome	Orphanet	1104	http://www.orpha.net/ORDO/Orphanet_1104
Anonychia-microcephaly syndrome	Anonychia-microcephaly syndrome	Orphanet	1094	http://www.orpha.net/ORDO/Orphanet_1094
Renal-genital-middle ear anomalies	Renal-genital-middle ear anomalies	Orphanet	1092	http://www.orpha.net/ORDO/Orphanet_1092
PAGOD syndrome	PAGOD syndrome	Orphanet	991	http://www.orpha.net/ORDO/Orphanet_991
Orofacial clefting syndrome	Orofacial clefting syndrome	Orphanet	139039	http://www.orpha.net/ORDO/Orphanet_139039
Agnathia-holoprosencephaly-situs inversus syndrome	Agnathia-holoprosencephaly-situs inversus syndrome	Orphanet	990	http://www.orpha.net/ORDO/Orphanet_990
Hypoglossia-hypodactyly syndrome	Hypoglossia-hypodactyly syndrome	Orphanet	989	http://www.orpha.net/ORDO/Orphanet_989
Malformation syndrome with odontal and/or periodontal component	Malformation syndrome with odontal and/or periodontal component	Orphanet	139042	http://www.orpha.net/ORDO/Orphanet_139042
Fetal akinesia deformation sequence	Fetal akinesia deformation sequence	Orphanet	994	http://www.orpha.net/ORDO/Orphanet_994
Aicardi-Goutières syndrome	Aicardi-Goutières syndrome	Orphanet	51	http://www.orpha.net/ORDO/Orphanet_51
Malformation syndrome with short stature	Malformation syndrome with short stature	Orphanet	139021	http://www.orpha.net/ORDO/Orphanet_139021
Internal carotid agenesis	Internal carotid agenesis	Orphanet	981	http://www.orpha.net/ORDO/Orphanet_981
Overgrowth/obesity syndrome	Overgrowth/obesity syndrome	Orphanet	139024	http://www.orpha.net/ORDO/Orphanet_139024
ADULT syndrome	ADULT syndrome	Orphanet	978	http://www.orpha.net/ORDO/Orphanet_978
Adrenomyodystrophy	Adrenomyodystrophy	Orphanet	977	http://www.orpha.net/ORDO/Orphanet_977
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	Orphanet	988	http://www.orpha.net/ORDO/Orphanet_988
Progeroid syndrome	Progeroid syndrome	Orphanet	139033	http://www.orpha.net/ORDO/Orphanet_139033
Branchial arch or oral-acral syndrome	Branchial arch or oral-acral syndrome	Orphanet	139036	http://www.orpha.net/ORDO/Orphanet_139036
Rare developmental defect with skin/mucosae involvement	Rare developmental defect with skin/mucosae involvement	Orphanet	139027	http://www.orpha.net/ORDO/Orphanet_139027
Testicular regression syndrome	Testicular regression syndrome	Orphanet	983	http://www.orpha.net/ORDO/Orphanet_983
Rare developmental defect with connective tissue involvement	Rare developmental defect with connective tissue involvement	Orphanet	139030	http://www.orpha.net/ORDO/Orphanet_139030
Hereditary sensory and autonomic neuropathy type 2	Hereditary sensory and autonomic neuropathy type 2	Orphanet	970	http://www.orpha.net/ORDO/Orphanet_970
Acrorenal syndrome	Acrorenal syndrome	Orphanet	971	http://www.orpha.net/ORDO/Orphanet_971
Acromesomelic dysplasia, Maroteaux type	Acromesomelic dysplasia, Maroteaux type	Orphanet	40	http://www.orpha.net/ORDO/Orphanet_40
Acromicric dysplasia	Acromicric dysplasia	Orphanet	969	http://www.orpha.net/ORDO/Orphanet_969
Rare bone development disorder	Rare bone development disorder	Orphanet	139012	http://www.orpha.net/ORDO/Orphanet_139012
Adams-Oliver syndrome	Adams-Oliver syndrome	Orphanet	974	http://www.orpha.net/ORDO/Orphanet_974
Developmental anomaly of metabolic origin	Developmental anomaly of metabolic origin	Orphanet	139009	http://www.orpha.net/ORDO/Orphanet_139009
Hereditary continuous muscle fiber activity	Hereditary continuous muscle fiber activity	Orphanet	972	http://www.orpha.net/ORDO/Orphanet_972
Congenital absence/hypoplasia of fingers excluding thumb, unilateral	Congenital absence/hypoplasia of fingers excluding thumb, unilateral	Orphanet	973	http://www.orpha.net/ORDO/Orphanet_973
Acromegaly-cutis verticis gyrata-corneal leukoma syndrome	Acromegaly-cutis verticis gyrata-corneal leukoma syndrome	Orphanet	964	http://www.orpha.net/ORDO/Orphanet_964
Acro-renal-ocular syndrome	Acro-renal-ocular syndrome	Orphanet	959	http://www.orpha.net/ORDO/Orphanet_959
Acromesomelic dysplasia, Hunter-Thompson type	Acromesomelic dysplasia, Hunter-Thompson type	Orphanet	968	http://www.orpha.net/ORDO/Orphanet_968
Acromegaloid facial appearance syndrome	Acromegaloid facial appearance syndrome	Orphanet	965	http://www.orpha.net/ORDO/Orphanet_965
Hypertrichosis-acromegaloid facial appearance syndrome	Hypertrichosis-acromegaloid facial appearance syndrome	Orphanet	966	http://www.orpha.net/ORDO/Orphanet_966
Carney triad	Carney triad	Orphanet	139411	http://www.orpha.net/ORDO/Orphanet_139411
Congenital panfollicular nevus	Congenital panfollicular nevus	Orphanet	139414	http://www.orpha.net/ORDO/Orphanet_139414
Amelo-onycho-hypohidrotic syndrome	Amelo-onycho-hypohidrotic syndrome	Orphanet	1028	http://www.orpha.net/ORDO/Orphanet_1028
Acute transverse myelitis	Acute transverse myelitis	Orphanet	139417	http://www.orpha.net/ORDO/Orphanet_139417
Enamel-renal syndrome	Enamel-renal syndrome	Orphanet	1031	http://www.orpha.net/ORDO/Orphanet_1031
Secondary acute transverse myelitis	Secondary acute transverse myelitis	Orphanet	139420	http://www.orpha.net/ORDO/Orphanet_139420
Idiopathic acute transverse myelitis	Idiopathic acute transverse myelitis	Orphanet	139423	http://www.orpha.net/ORDO/Orphanet_139423
Perioral myoclonia with absences	Perioral myoclonia with absences	Orphanet	139426	http://www.orpha.net/ORDO/Orphanet_139426
Jeavons syndrome	Jeavons syndrome	Orphanet	139431	http://www.orpha.net/ORDO/Orphanet_139431
Beta-mercaptolactate cysteine disulfiduria	Beta-mercaptolactate cysteine disulfiduria	Orphanet	1035	http://www.orpha.net/ORDO/Orphanet_1035
Multicentric reticulohistiocytosis	Multicentric reticulohistiocytosis	Orphanet	139436	http://www.orpha.net/ORDO/Orphanet_139436
Amaurosis-hypertrichosis syndrome	Amaurosis-hypertrichosis syndrome	Orphanet	1021	http://www.orpha.net/ORDO/Orphanet_1021
Alström syndrome	Alström syndrome	Orphanet	64	http://www.orpha.net/ORDO/Orphanet_64
Congenital generalized hypertrichosis, Ambras type	Congenital generalized hypertrichosis, Ambras type	Orphanet	1023	http://www.orpha.net/ORDO/Orphanet_1023
Isolated craniosynostosis	Isolated craniosynostosis	Orphanet	139390	http://www.orpha.net/ORDO/Orphanet_139390
Syndromic craniosynostosis	Syndromic craniosynostosis	Orphanet	139393	http://www.orpha.net/ORDO/Orphanet_139393
X-linked cerebral adrenoleukodystrophy	X-linked cerebral adrenoleukodystrophy	Orphanet	139396	http://www.orpha.net/ORDO/Orphanet_139396
Adrenomyeloneuropathy	Adrenomyeloneuropathy	Orphanet	139399	http://www.orpha.net/ORDO/Orphanet_139399
Drug rash with eosinophilia and systemic symptoms	Drug rash with eosinophilia and systemic symptoms	Orphanet	139402	http://www.orpha.net/ORDO/Orphanet_139402
Autosomal recessive amelia	Autosomal recessive amelia	Orphanet	1027	http://www.orpha.net/ORDO/Orphanet_1027
Encephalopathy due to prosaposin deficiency	Encephalopathy due to prosaposin deficiency	Orphanet	139406	http://www.orpha.net/ORDO/Orphanet_139406
Alopecia-epilepsy-pyorrhea-intellectual disability syndrome	Alopecia-epilepsy-pyorrhea-intellectual disability syndrome	Orphanet	1008	http://www.orpha.net/ORDO/Orphanet_1008
Alopecia universalis	Alopecia universalis	Orphanet	701	http://www.orpha.net/ORDO/Orphanet_701
Autosomal dominant palmoplantar keratoderma and congenital alopecia	Autosomal dominant palmoplantar keratoderma and congenital alopecia	Orphanet	1010	http://www.orpha.net/ORDO/Orphanet_1010
Alopecia-hypogonadism-extrapyramidal syndrome	Alopecia-hypogonadism-extrapyramidal syndrome	Orphanet	1011	http://www.orpha.net/ORDO/Orphanet_1011
Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome	Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome	Orphanet	1014	http://www.orpha.net/ORDO/Orphanet_1014
2q37 microdeletion syndrome	2q37 microdeletion syndrome	Orphanet	1001	http://www.orpha.net/ORDO/Orphanet_1001
Albright hereditary osteodystrophy	Albright hereditary osteodystrophy	Orphanet	665	http://www.orpha.net/ORDO/Orphanet_665
Allan-Herndon-Dudley syndrome	Allan-Herndon-Dudley syndrome	Orphanet	59	http://www.orpha.net/ORDO/Orphanet_59
Scalp defects-postaxial polydactyly syndrome	Scalp defects-postaxial polydactyly syndrome	Orphanet	1003	http://www.orpha.net/ORDO/Orphanet_1003
Alopecia-contractures-dwarfism-intellectual disability syndrome	Alopecia-contractures-dwarfism-intellectual disability syndrome	Orphanet	1005	http://www.orpha.net/ORDO/Orphanet_1005
Ascher syndrome	Ascher syndrome	Orphanet	1253	http://www.orpha.net/ORDO/Orphanet_1253
Blepharofacioskeletal syndrome	Blepharofacioskeletal syndrome	Orphanet	1251	http://www.orpha.net/ORDO/Orphanet_1251
Blepharonasofacial malformation syndrome	Blepharonasofacial malformation syndrome	Orphanet	1252	http://www.orpha.net/ORDO/Orphanet_1252
Maxillonasal dysplasia	Maxillonasal dysplasia	Orphanet	1248	http://www.orpha.net/ORDO/Orphanet_1248
Borjeson-Forssman-Lehmann syndrome	Borjeson-Forssman-Lehmann syndrome	Orphanet	127	http://www.orpha.net/ORDO/Orphanet_127
Tricho-retino-dento-digital syndrome	Tricho-retino-dento-digital syndrome	Orphanet	1264	http://www.orpha.net/ORDO/Orphanet_1264
Böök syndrome	Böök syndrome	Orphanet	1262	http://www.orpha.net/ORDO/Orphanet_1262
Boomerang dysplasia	Boomerang dysplasia	Orphanet	1263	http://www.orpha.net/ORDO/Orphanet_1263
Blepharoptosis-myopia-ectopia lentis syndrome	Blepharoptosis-myopia-ectopia lentis syndrome	Orphanet	1259	http://www.orpha.net/ORDO/Orphanet_1259
Bonnemann-Meinecke-Reich syndrome	Bonnemann-Meinecke-Reich syndrome	Orphanet	1261	http://www.orpha.net/ORDO/Orphanet_1261
Bartsocas-Papas syndrome	Bartsocas-Papas syndrome	Orphanet	1234	http://www.orpha.net/ORDO/Orphanet_1234
Barber-Say syndrome	Barber-Say syndrome	Orphanet	1231	http://www.orpha.net/ORDO/Orphanet_1231
Congenital intrauterine infection-like syndrome	Congenital intrauterine infection-like syndrome	Orphanet	1229	http://www.orpha.net/ORDO/Orphanet_1229
Bannayan-Riley-Ruvalcaba syndrome	Bannayan-Riley-Ruvalcaba syndrome	Orphanet	109	http://www.orpha.net/ORDO/Orphanet_109
Banki syndrome	Banki syndrome	Orphanet	1228	http://www.orpha.net/ORDO/Orphanet_1228
Bencze syndrome	Bencze syndrome	Orphanet	1241	http://www.orpha.net/ORDO/Orphanet_1241
Metaphyseal acroscyphodysplasia	Metaphyseal acroscyphodysplasia	Orphanet	1240	http://www.orpha.net/ORDO/Orphanet_1240
Beemer-Ertbruggen syndrome	Beemer-Ertbruggen syndrome	Orphanet	1237	http://www.orpha.net/ORDO/Orphanet_1237
Auriculoosteodysplasia	Auriculoosteodysplasia	Orphanet	114	http://www.orpha.net/ORDO/Orphanet_114
Congenital contractural arachnodactyly	Congenital contractural arachnodactyly	Orphanet	115	http://www.orpha.net/ORDO/Orphanet_115
Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome	Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome	Orphanet	1236	http://www.orpha.net/ORDO/Orphanet_1236
Intractable diarrhea-choanal atresia-eye anomalies syndrome	Intractable diarrhea-choanal atresia-eye anomalies syndrome	Orphanet	137622	http://www.orpha.net/ORDO/Orphanet_137622
Nephrogenic systemic fibrosis	Nephrogenic systemic fibrosis	Orphanet	137617	http://www.orpha.net/ORDO/Orphanet_137617
Brachymorphism-onychodysplasia-dysphalangism syndrome	Brachymorphism-onychodysplasia-dysphalangism syndrome	Orphanet	1292	http://www.orpha.net/ORDO/Orphanet_1292
Cardiac anomalies-heterotaxy syndrome	Cardiac anomalies-heterotaxy syndrome	Orphanet	137628	http://www.orpha.net/ORDO/Orphanet_137628
Brachyolmia	Brachyolmia	Orphanet	1293	http://www.orpha.net/ORDO/Orphanet_1293
Glycogen storage disease due to muscle and heart glycogen synthase deficiency	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	Orphanet	137625	http://www.orpha.net/ORDO/Orphanet_137625
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	Orphanet	137608	http://www.orpha.net/ORDO/Orphanet_137608
Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome	Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome	Orphanet	137658	http://www.orpha.net/ORDO/Orphanet_137658
Branchioskeletogenital syndrome	Branchioskeletogenital syndrome	Orphanet	1299	http://www.orpha.net/ORDO/Orphanet_1299
Microcephaly-digital anomalies-intellectual disability syndrome	Microcephaly-digital anomalies-intellectual disability syndrome	Orphanet	137653	http://www.orpha.net/ORDO/Orphanet_137653
Pellucid marginal degeneration	Pellucid marginal degeneration	Orphanet	137672	http://www.orpha.net/ORDO/Orphanet_137672
Autosomal dominant popliteal pterygium syndrome	Autosomal dominant popliteal pterygium syndrome	Orphanet	1300	http://www.orpha.net/ORDO/Orphanet_1300
Capillary malformation-arteriovenous malformation	Capillary malformation-arteriovenous malformation	Orphanet	137667	http://www.orpha.net/ORDO/Orphanet_137667
Bronchiectasis-oligospermia syndrome	Bronchiectasis-oligospermia syndrome	Orphanet	1301	http://www.orpha.net/ORDO/Orphanet_1301
Overgrowth-macrocephaly-facial dysmorphism syndrome	Overgrowth-macrocephaly-facial dysmorphism syndrome	Orphanet	137634	http://www.orpha.net/ORDO/Orphanet_137634
Brachytelephalangy-dysmorphism-Kallmann syndrome	Brachytelephalangy-dysmorphism-Kallmann syndrome	Orphanet	1295	http://www.orpha.net/ORDO/Orphanet_1295
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome	Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome	Orphanet	137631	http://www.orpha.net/ORDO/Orphanet_137631
Lambert syndrome	Lambert syndrome	Orphanet	1296	http://www.orpha.net/ORDO/Orphanet_1296
Branchio-oculo-facial syndrome	Branchio-oculo-facial syndrome	Orphanet	1297	http://www.orpha.net/ORDO/Orphanet_1297
Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome	Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome	Orphanet	137639	http://www.orpha.net/ORDO/Orphanet_137639
Neonatal hypoxic and ischemic brain injury	Neonatal hypoxic and ischemic brain injury	Orphanet	137577	http://www.orpha.net/ORDO/Orphanet_137577
Vulvar intraepithelial neoplasia	Vulvar intraepithelial neoplasia	Orphanet	137583	http://www.orpha.net/ORDO/Orphanet_137583
Brachydactyly-arterial hypertension syndrome	Brachydactyly-arterial hypertension syndrome	Orphanet	1276	http://www.orpha.net/ORDO/Orphanet_1276
Brachydactyly-elbow wrist dysplasia syndrome	Brachydactyly-elbow wrist dysplasia syndrome	Orphanet	1275	http://www.orpha.net/ORDO/Orphanet_1275
Dermato-cardio-skeletal syndrome, Borrone type	Dermato-cardio-skeletal syndrome, Borrone type	Orphanet	1266	http://www.orpha.net/ORDO/Orphanet_1266
Bowen syndrome	Bowen syndrome	Orphanet	1271	http://www.orpha.net/ORDO/Orphanet_1271
Bowen-Conradi syndrome	Bowen-Conradi syndrome	Orphanet	1270	http://www.orpha.net/ORDO/Orphanet_1270
Legius syndrome	Legius syndrome	Orphanet	137605	http://www.orpha.net/ORDO/Orphanet_137605
Infectious epithelial keratitis	Infectious epithelial keratitis	Orphanet	137593	http://www.orpha.net/ORDO/Orphanet_137593
Neurotrophic keratopathy	Neurotrophic keratopathy	Orphanet	137596	http://www.orpha.net/ORDO/Orphanet_137596
Brachydactyly-preaxial hallux varus syndrome	Brachydactyly-preaxial hallux varus syndrome	Orphanet	1278	http://www.orpha.net/ORDO/Orphanet_1278
Herpes simplex virus stromal keratitis	Herpes simplex virus stromal keratitis	Orphanet	137599	http://www.orpha.net/ORDO/Orphanet_137599
Endotheliitis	Endotheliitis	Orphanet	137602	http://www.orpha.net/ORDO/Orphanet_137602
Congenital unilateral hypoplasia of depressor anguli oris	Congenital unilateral hypoplasia of depressor anguli oris	Orphanet	1166	http://www.orpha.net/ORDO/Orphanet_1166
Ataxia-oculomotor apraxia type 1	Ataxia-oculomotor apraxia type 1	Orphanet	1168	http://www.orpha.net/ORDO/Orphanet_1168
Extrapelvic endometriosis	Extrapelvic endometriosis	Orphanet	137820	http://www.orpha.net/ORDO/Orphanet_137820
Chylous ascites	Chylous ascites	Orphanet	1160	http://www.orpha.net/ORDO/Orphanet_1160
Arachnoiditis	Arachnoiditis	Orphanet	137817	http://www.orpha.net/ORDO/Orphanet_137817
Macular amyloidosis	Macular amyloidosis	Orphanet	137814	http://www.orpha.net/ORDO/Orphanet_137814
Cerebellar ataxia-ectodermal dysplasia syndrome	Cerebellar ataxia-ectodermal dysplasia syndrome	Orphanet	1174	http://www.orpha.net/ORDO/Orphanet_1174
Lemierre syndrome	Lemierre syndrome	Orphanet	137839	http://www.orpha.net/ORDO/Orphanet_137839
Frank-Ter Haar syndrome	Frank-Ter Haar syndrome	Orphanet	137834	http://www.orpha.net/ORDO/Orphanet_137834
X-linked intellectual disability-cerebellar hypoplasia syndrome	X-linked intellectual disability-cerebellar hypoplasia syndrome	Orphanet	137831	http://www.orpha.net/ORDO/Orphanet_137831
Autosomal recessive cerebelloparenchymal disorder type 3	Autosomal recessive cerebelloparenchymal disorder type 3	Orphanet	1170	http://www.orpha.net/ORDO/Orphanet_1170
Martínez-Frías syndrome	Martínez-Frías syndrome	Orphanet	137862	http://www.orpha.net/ORDO/Orphanet_137862
Ataxia-tapetoretinal degeneration syndrome	Ataxia-tapetoretinal degeneration syndrome	Orphanet	1178	http://www.orpha.net/ORDO/Orphanet_1178
X-linked progressive cerebellar ataxia	X-linked progressive cerebellar ataxia	Orphanet	1175	http://www.orpha.net/ORDO/Orphanet_1175
Ataxia-hypogonadism-choroidal dystrophy syndrome	Ataxia-hypogonadism-choroidal dystrophy syndrome	Orphanet	1180	http://www.orpha.net/ORDO/Orphanet_1180
Benign paroxysmal tonic upgaze of childhood with ataxia	Benign paroxysmal tonic upgaze of childhood with ataxia	Orphanet	1179	http://www.orpha.net/ORDO/Orphanet_1179
Cerebellar ataxia-hypogonadism syndrome	Cerebellar ataxia-hypogonadism syndrome	Orphanet	1173	http://www.orpha.net/ORDO/Orphanet_1173
Madras motor neuron disease	Madras motor neuron disease	Orphanet	137867	http://www.orpha.net/ORDO/Orphanet_137867
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Orphanet	137681	http://www.orpha.net/ORDO/Orphanet_137681
AREDYLD syndrome	AREDYLD syndrome	Orphanet	1133	http://www.orpha.net/ORDO/Orphanet_1133
Histiocytoid cardiomyopathy	Histiocytoid cardiomyopathy	Orphanet	137675	http://www.orpha.net/ORDO/Orphanet_137675
X-linked mandibulofacial dysostosis	X-linked mandibulofacial dysostosis	Orphanet	1131	http://www.orpha.net/ORDO/Orphanet_1131
Czech dysplasia, metatarsal type	Czech dysplasia, metatarsal type	Orphanet	137678	http://www.orpha.net/ORDO/Orphanet_137678
Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk	Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk	Orphanet	137698	http://www.orpha.net/ORDO/Orphanet_137698
Neurological conditions associated with aminoacylase 1 deficiency	Neurological conditions associated with aminoacylase 1 deficiency	Orphanet	137754	http://www.orpha.net/ORDO/Orphanet_137754
Infantile-onset X-linked spinal muscular atrophy	Infantile-onset X-linked spinal muscular atrophy	Orphanet	1145	http://www.orpha.net/ORDO/Orphanet_1145
Asherman syndrome	Asherman syndrome	Orphanet	137686	http://www.orpha.net/ORDO/Orphanet_137686
Arthrogryposis-like hand anomaly-sensorineural deafness syndrome	Arthrogryposis-like hand anomaly-sensorineural deafness syndrome	Orphanet	1144	http://www.orpha.net/ORDO/Orphanet_1144
Lethal congenital contracture syndrome type 2	Lethal congenital contracture syndrome type 2	Orphanet	137776	http://www.orpha.net/ORDO/Orphanet_137776
Arthrogryposis multiplex congenita-whistling face syndrome	Arthrogryposis multiplex congenita-whistling face syndrome	Orphanet	1150	http://www.orpha.net/ORDO/Orphanet_1150
Kuskokwim syndrome	Kuskokwim syndrome	Orphanet	1149	http://www.orpha.net/ORDO/Orphanet_1149
Primary cutaneous amyloidosis	Primary cutaneous amyloidosis	Orphanet	137807	http://www.orpha.net/ORDO/Orphanet_137807
Progressive pseudorheumatoid arthropathy of childhood	Progressive pseudorheumatoid arthropathy of childhood	Orphanet	1159	http://www.orpha.net/ORDO/Orphanet_1159
Nodular cutaneous amyloidosis	Nodular cutaneous amyloidosis	Orphanet	137810	http://www.orpha.net/ORDO/Orphanet_137810
Lethal congenital contracture syndrome type 3	Lethal congenital contracture syndrome type 3	Orphanet	137783	http://www.orpha.net/ORDO/Orphanet_137783
Progressive hemifacial atrophy	Progressive hemifacial atrophy	Orphanet	1214	http://www.orpha.net/ORDO/Orphanet_1214
Autosomal dominant optic atrophy plus syndrome	Autosomal dominant optic atrophy plus syndrome	Orphanet	1215	http://www.orpha.net/ORDO/Orphanet_1215
Pierre Robin syndrome associated with collagen disease	Pierre Robin syndrome associated with collagen disease	Orphanet	138041	http://www.orpha.net/ORDO/Orphanet_138041
Autosomal dominant congenital benign spinal muscular atrophy	Autosomal dominant congenital benign spinal muscular atrophy	Orphanet	1216	http://www.orpha.net/ORDO/Orphanet_1216
Pierre Robin syndrome associated with a chromosomal anomaly	Pierre Robin syndrome associated with a chromosomal anomaly	Orphanet	138047	http://www.orpha.net/ORDO/Orphanet_138047
Rare disease with Pierre Robin syndrome	Rare disease with Pierre Robin syndrome	Orphanet	138044	http://www.orpha.net/ORDO/Orphanet_138044
Aurocephalosyndactyly	Aurocephalosyndactyly	Orphanet	1219	http://www.orpha.net/ORDO/Orphanet_1219
Pierre Robin syndrome associated with bone disease	Pierre Robin syndrome associated with bone disease	Orphanet	138055	http://www.orpha.net/ORDO/Orphanet_138055
Cheilitis glandularis	Cheilitis glandularis	Orphanet	1221	http://www.orpha.net/ORDO/Orphanet_1221
Pierre Robin syndrome associated with branchial archs anomalies	Pierre Robin syndrome associated with branchial archs anomalies	Orphanet	138050	http://www.orpha.net/ORDO/Orphanet_138050
Teratogenic Pierre Robin syndrome	Teratogenic Pierre Robin syndrome	Orphanet	138059	http://www.orpha.net/ORDO/Orphanet_138059
Baller-Gerold syndrome	Baller-Gerold syndrome	Orphanet	1225	http://www.orpha.net/ORDO/Orphanet_1225
Sucking/swallowing disorder not related with Pierre Robin syndrome	Sucking/swallowing disorder not related with Pierre Robin syndrome	Orphanet	138069	http://www.orpha.net/ORDO/Orphanet_138069
Bamforth-Lazarus syndrome	Bamforth-Lazarus syndrome	Orphanet	1226	http://www.orpha.net/ORDO/Orphanet_1226
Bangstad syndrome	Bangstad syndrome	Orphanet	1227	http://www.orpha.net/ORDO/Orphanet_1227
Ataxia-photosensitivity-short stature syndrome	Ataxia-photosensitivity-short stature syndrome	Orphanet	1184	http://www.orpha.net/ORDO/Orphanet_1184
Spastic ataxia with congenital miosis	Spastic ataxia with congenital miosis	Orphanet	1182	http://www.orpha.net/ORDO/Orphanet_1182
Auriculocondylar syndrome	Auriculocondylar syndrome	Orphanet	137888	http://www.orpha.net/ORDO/Orphanet_137888
Male infertility due to large-headed multiflagellar polyploid spermatozoa	Male infertility due to large-headed multiflagellar polyploid spermatozoa	Orphanet	137893	http://www.orpha.net/ORDO/Orphanet_137893
Infantile-onset spinocerebellar ataxia	Infantile-onset spinocerebellar ataxia	Orphanet	1186	http://www.orpha.net/ORDO/Orphanet_1186
Spinocerebellar ataxia-dysmorphism syndrome	Spinocerebellar ataxia-dysmorphism syndrome	Orphanet	1185	http://www.orpha.net/ORDO/Orphanet_1185
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	Orphanet	137898	http://www.orpha.net/ORDO/Orphanet_137898
Ataxia-deafness-intellectual disability syndrome	Ataxia-deafness-intellectual disability syndrome	Orphanet	1188	http://www.orpha.net/ORDO/Orphanet_1188
Isolated optic nerve hypoplasia/aplasia	Isolated optic nerve hypoplasia/aplasia	Orphanet	137902	http://www.orpha.net/ORDO/Orphanet_137902
Syndromic optic nerve hypoplasia	Syndromic optic nerve hypoplasia	Orphanet	137905	http://www.orpha.net/ORDO/Orphanet_137905
Lethal ataxia with deafness and optic atrophy	Lethal ataxia with deafness and optic atrophy	Orphanet	1187	http://www.orpha.net/ORDO/Orphanet_1187
Atelosteogenesis type I	Atelosteogenesis type I	Orphanet	1190	http://www.orpha.net/ORDO/Orphanet_1190
Hypotonia with lactic acidemia and hyperammonemia	Hypotonia with lactic acidemia and hyperammonemia	Orphanet	137908	http://www.orpha.net/ORDO/Orphanet_137908
Autism-facial port-wine stain syndrome	Autism-facial port-wine stain syndrome	Orphanet	137911	http://www.orpha.net/ORDO/Orphanet_137911
Choanal atresia	Choanal atresia	Orphanet	137914	http://www.orpha.net/ORDO/Orphanet_137914
Atkin-Flaitz syndrome	Atkin-Flaitz syndrome	Orphanet	1193	http://www.orpha.net/ORDO/Orphanet_1193
Choanal atresia, unilateral	Choanal atresia, unilateral	Orphanet	137917	http://www.orpha.net/ORDO/Orphanet_137917
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome	Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome	Orphanet	1200	http://www.orpha.net/ORDO/Orphanet_1200
Choanal atresia, bilateral	Choanal atresia, bilateral	Orphanet	137920	http://www.orpha.net/ORDO/Orphanet_137920
Colonic atresia	Colonic atresia	Orphanet	1198	http://www.orpha.net/ORDO/Orphanet_1198
Primary laryngeal lymphangioma	Primary laryngeal lymphangioma	Orphanet	137926	http://www.orpha.net/ORDO/Orphanet_137926
Neonatal brainstem dysfunction	Neonatal brainstem dysfunction	Orphanet	137929	http://www.orpha.net/ORDO/Orphanet_137929
Duodenal atresia	Duodenal atresia	Orphanet	1203	http://www.orpha.net/ORDO/Orphanet_1203
Pulmonary atresia-intact ventricular septum syndrome	Pulmonary atresia-intact ventricular septum syndrome	Orphanet	1208	http://www.orpha.net/ORDO/Orphanet_1208
Congenital laryngeal palsy	Congenital laryngeal palsy	Orphanet	137932	http://www.orpha.net/ORDO/Orphanet_137932
Laryngotracheal angioma	Laryngotracheal angioma	Orphanet	137935	http://www.orpha.net/ORDO/Orphanet_137935
Ring chromosome 7 syndrome	Ring chromosome 7 syndrome	Orphanet	1449	http://www.orpha.net/ORDO/Orphanet_1449
Paramedian nasal cleft	Paramedian nasal cleft	Orphanet	141242	http://www.orpha.net/ORDO/Orphanet_141242
Cleidorhizomelic syndrome	Cleidorhizomelic syndrome	Orphanet	1453	http://www.orpha.net/ORDO/Orphanet_1453
Median cleft of the upper lip and maxilla	Median cleft of the upper lip and maxilla	Orphanet	141239	http://www.orpha.net/ORDO/Orphanet_141239
Ring chromosome 14 syndrome	Ring chromosome 14 syndrome	Orphanet	1440	http://www.orpha.net/ORDO/Orphanet_1440
Median facial cleft	Median facial cleft	Orphanet	141234	http://www.orpha.net/ORDO/Orphanet_141234
Ring chromosome 19 syndrome	Ring chromosome 19 syndrome	Orphanet	1443	http://www.orpha.net/ORDO/Orphanet_1443
Facial cleft	Facial cleft	Orphanet	141229	http://www.orpha.net/ORDO/Orphanet_141229
Tessier number 5 facial cleft	Tessier number 5 facial cleft	Orphanet	141261	http://www.orpha.net/ORDO/Orphanet_141261
Tessier number 4 facial cleft	Tessier number 4 facial cleft	Orphanet	141258	http://www.orpha.net/ORDO/Orphanet_141258
CODAS syndrome	CODAS syndrome	Orphanet	1458	http://www.orpha.net/ORDO/Orphanet_1458
Oblique facial cleft	Oblique facial cleft	Orphanet	141253	http://www.orpha.net/ORDO/Orphanet_141253
Joubert syndrome with hepatic defect	Joubert syndrome with hepatic defect	Orphanet	1454	http://www.orpha.net/ORDO/Orphanet_1454
Coats disease	Coats disease	Orphanet	190	http://www.orpha.net/ORDO/Orphanet_190
Cerebrofacial arteriovenous metameric syndrome type 3	Cerebrofacial arteriovenous metameric syndrome type 3	Orphanet	141199	http://www.orpha.net/ORDO/Orphanet_141199
Benign hereditary chorea	Benign hereditary chorea	Orphanet	1429	http://www.orpha.net/ORDO/Orphanet_1429
Cerebrofacial arteriovenous metameric syndrome type 1	Cerebrofacial arteriovenous metameric syndrome type 1	Orphanet	141194	http://www.orpha.net/ORDO/Orphanet_141194
Cerebrofacial arteriovenous metameric syndrome	Cerebrofacial arteriovenous metameric syndrome	Orphanet	141189	http://www.orpha.net/ORDO/Orphanet_141189
Greenberg dysplasia	Greenberg dysplasia	Orphanet	1426	http://www.orpha.net/ORDO/Orphanet_1426
Rapidly involuting congenital hemangioma	Rapidly involuting congenital hemangioma	Orphanet	141184	http://www.orpha.net/ORDO/Orphanet_141184
Otospondylomegaepiphyseal dysplasia	Otospondylomegaepiphyseal dysplasia	Orphanet	1427	http://www.orpha.net/ORDO/Orphanet_1427
Xq21 microdeletion syndrome	Xq21 microdeletion syndrome	Orphanet	1435	http://www.orpha.net/ORDO/Orphanet_1435
Nasal dorsum fistula	Nasal dorsum fistula	Orphanet	141219	http://www.orpha.net/ORDO/Orphanet_141219
X-linked skeletal dysplasia-intellectual disability syndrome	X-linked skeletal dysplasia-intellectual disability syndrome	Orphanet	1436	http://www.orpha.net/ORDO/Orphanet_1436
Isolated congenital syngnathia	Isolated congenital syngnathia	Orphanet	141214	http://www.orpha.net/ORDO/Orphanet_141214
Diffuse lymphatic malformation	Diffuse lymphatic malformation	Orphanet	141209	http://www.orpha.net/ORDO/Orphanet_141209
Autosomal dominant chorioretinopathy-microcephaly syndrome	Autosomal dominant chorioretinopathy-microcephaly syndrome	Orphanet	1432	http://www.orpha.net/ORDO/Orphanet_1432
Choroidal atrophy-alopecia syndrome	Choroidal atrophy-alopecia syndrome	Orphanet	1433	http://www.orpha.net/ORDO/Orphanet_1433
Rare head and neck malformation	Rare head and neck malformation	Orphanet	155832	http://www.orpha.net/ORDO/Orphanet_155832
Contractures-ectodermal dysplasia-cleft lip/palate syndrome	Contractures-ectodermal dysplasia-cleft lip/palate syndrome	Orphanet	1484	http://www.orpha.net/ORDO/Orphanet_1484
Cysts and fistulae of the face and oral cavity	Cysts and fistulae of the face and oral cavity	Orphanet	155835	http://www.orpha.net/ORDO/Orphanet_155835
Biemond syndrome type 2	Biemond syndrome type 2	Orphanet	141333	http://www.orpha.net/ORDO/Orphanet_141333
Submucosal cleft palate	Submucosal cleft palate	Orphanet	155878	http://www.orpha.net/ORDO/Orphanet_155878
Corneal dystrophy-perceptive deafness syndrome	Corneal dystrophy-perceptive deafness syndrome	Orphanet	1490	http://www.orpha.net/ORDO/Orphanet_1490
Cooks syndrome	Cooks syndrome	Orphanet	1487	http://www.orpha.net/ORDO/Orphanet_1487
Pinnae fistula or cyst	Pinnae fistula or cyst	Orphanet	155838	http://www.orpha.net/ORDO/Orphanet_155838
Paramedian facial cleft	Paramedian facial cleft	Orphanet	155867	http://www.orpha.net/ORDO/Orphanet_155867
Lethal congenital contracture syndrome type 1	Lethal congenital contracture syndrome type 1	Orphanet	1486	http://www.orpha.net/ORDO/Orphanet_1486
Tessier number 7 facial cleft	Tessier number 7 facial cleft	Orphanet	141276	http://www.orpha.net/ORDO/Orphanet_141276
Tessier number 6 facial cleft	Tessier number 6 facial cleft	Orphanet	141265	http://www.orpha.net/ORDO/Orphanet_141265
COFS syndrome	COFS syndrome	Orphanet	1466	http://www.orpha.net/ORDO/Orphanet_1466
Lateral facial cleft	Lateral facial cleft	Orphanet	141269	http://www.orpha.net/ORDO/Orphanet_141269
Orofaciodigital syndrome type 12	Orofaciodigital syndrome type 12	Orphanet	141327	http://www.orpha.net/ORDO/Orphanet_141327
Orofaciodigital syndrome type 13	Orofaciodigital syndrome type 13	Orphanet	141330	http://www.orpha.net/ORDO/Orphanet_141330
Coloboma of macula-brachydactyly type B syndrome	Coloboma of macula-brachydactyly type B syndrome	Orphanet	1471	http://www.orpha.net/ORDO/Orphanet_1471
Midline cervical cleft	Midline cervical cleft	Orphanet	141288	http://www.orpha.net/ORDO/Orphanet_141288
Cleft lip and alveolus	Cleft lip and alveolus	Orphanet	141291	http://www.orpha.net/ORDO/Orphanet_141291
Polyrrhinia	Polyrrhinia	Orphanet	141091	http://www.orpha.net/ORDO/Orphanet_141091
Hair defect-photosensitivity-intellectual disability syndrome	Hair defect-photosensitivity-intellectual disability syndrome	Orphanet	1408	http://www.orpha.net/ORDO/Orphanet_1408
Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome	Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome	Orphanet	1409	http://www.orpha.net/ORDO/Orphanet_1409
Nasolacrimal duct cyst	Nasolacrimal duct cyst	Orphanet	141083	http://www.orpha.net/ORDO/Orphanet_141083
Uncombable hair syndrome	Uncombable hair syndrome	Orphanet	1410	http://www.orpha.net/ORDO/Orphanet_1410
Proboscis lateralis	Proboscis lateralis	Orphanet	141099	http://www.orpha.net/ORDO/Orphanet_141099
Supernumerary nostril	Supernumerary nostril	Orphanet	141096	http://www.orpha.net/ORDO/Orphanet_141096
Tarsal-carpal coalition syndrome	Tarsal-carpal coalition syndrome	Orphanet	1412	http://www.orpha.net/ORDO/Orphanet_1412
Nasopharyngeal teratoma	Nasopharyngeal teratoma	Orphanet	141107	http://www.orpha.net/ORDO/Orphanet_141107
Nasal dermoid cyst	Nasal dermoid cyst	Orphanet	141103	http://www.orpha.net/ORDO/Orphanet_141103
Nasal ganglioglioma	Nasal ganglioglioma	Orphanet	141115	http://www.orpha.net/ORDO/Orphanet_141115
Familial calcium pyrophosphate deposition	Familial calcium pyrophosphate deposition	Orphanet	1416	http://www.orpha.net/ORDO/Orphanet_1416
Nasal glial heterotopia	Nasal glial heterotopia	Orphanet	141112	http://www.orpha.net/ORDO/Orphanet_141112
Cerebrofaciothoracic dysplasia	Cerebrofaciothoracic dysplasia	Orphanet	1394	http://www.orpha.net/ORDO/Orphanet_1394
Facial dermoid cyst	Facial dermoid cyst	Orphanet	141051	http://www.orpha.net/ORDO/Orphanet_141051
Lower lip fistula	Lower lip fistula	Orphanet	141064	http://www.orpha.net/ORDO/Orphanet_141064
Commissural lip fistula	Commissural lip fistula	Orphanet	141061	http://www.orpha.net/ORDO/Orphanet_141061
Digestive duplication cyst of the tongue	Digestive duplication cyst of the tongue	Orphanet	141071	http://www.orpha.net/ORDO/Orphanet_141071
Hydrocephaly-cerebellar agenesis syndrome	Hydrocephaly-cerebellar agenesis syndrome	Orphanet	1397	http://www.orpha.net/ORDO/Orphanet_1397
Cervicofacial fibrochondroma	Cervicofacial fibrochondroma	Orphanet	141067	http://www.orpha.net/ORDO/Orphanet_141067
Isolated cerebellar agenesis	Isolated cerebellar agenesis	Orphanet	1398	http://www.orpha.net/ORDO/Orphanet_1398
Richards-Rundle syndrome	Richards-Rundle syndrome	Orphanet	1399	http://www.orpha.net/ORDO/Orphanet_1399
Epignathus	Epignathus	Orphanet	141077	http://www.orpha.net/ORDO/Orphanet_141077
CHAND syndrome	CHAND syndrome	Orphanet	1401	http://www.orpha.net/ORDO/Orphanet_1401
External auditory canal aplasia/hypoplasia	External auditory canal aplasia/hypoplasia	Orphanet	141074	http://www.orpha.net/ORDO/Orphanet_141074
Isolated congenital hypoglossia/aglossia	Isolated congenital hypoglossia/aglossia	Orphanet	141152	http://www.orpha.net/ORDO/Orphanet_141152
Metaphyseal chondrodysplasia, Schmid type	Metaphyseal chondrodysplasia, Schmid type	Orphanet	174	http://www.orpha.net/ORDO/Orphanet_174
Glossopalatine ankylosis	Glossopalatine ankylosis	Orphanet	141163	http://www.orpha.net/ORDO/Orphanet_141163
Frontonasal arteriovenous malformation	Frontonasal arteriovenous malformation	Orphanet	141168	http://www.orpha.net/ORDO/Orphanet_141168
Maxillary arteriovenous malformation	Maxillary arteriovenous malformation	Orphanet	141171	http://www.orpha.net/ORDO/Orphanet_141171
Desbuquois syndrome	Desbuquois syndrome	Orphanet	1425	http://www.orpha.net/ORDO/Orphanet_1425
Mandibular arteriovenous malformation	Mandibular arteriovenous malformation	Orphanet	141174	http://www.orpha.net/ORDO/Orphanet_141174
Non-involuting congenital hemangioma	Non-involuting congenital hemangioma	Orphanet	141179	http://www.orpha.net/ORDO/Orphanet_141179
Nasal encephalocele	Nasal encephalocele	Orphanet	141118	http://www.orpha.net/ORDO/Orphanet_141118
Congenital subglottic stenosis	Congenital subglottic stenosis	Orphanet	141121	http://www.orpha.net/ORDO/Orphanet_141121
Congenital laryngeal cyst	Congenital laryngeal cyst	Orphanet	141124	http://www.orpha.net/ORDO/Orphanet_141124
Congenital tracheal stenosis	Congenital tracheal stenosis	Orphanet	141127	http://www.orpha.net/ORDO/Orphanet_141127
Oculo-auriculo-vertebral spectrum	Oculo-auriculo-vertebral spectrum	Orphanet	141132	http://www.orpha.net/ORDO/Orphanet_141132
Otomandibular syndrome	Otomandibular syndrome	Orphanet	141136	http://www.orpha.net/ORDO/Orphanet_141136
Hemifacial hyperplasia	Hemifacial hyperplasia	Orphanet	141145	http://www.orpha.net/ORDO/Orphanet_141145
Hemifacial myohyperplasia	Hemifacial myohyperplasia	Orphanet	141148	http://www.orpha.net/ORDO/Orphanet_141148
Spondyloepimetaphyseal dysplasia, matrilin-3 type	Spondyloepimetaphyseal dysplasia, matrilin-3 type	Orphanet	156728	http://www.orpha.net/ORDO/Orphanet_156728
Cataract-hypertrichosis-intellectual disability syndrome	Cataract-hypertrichosis-intellectual disability syndrome	Orphanet	1375	http://www.orpha.net/ORDO/Orphanet_1375
Piepkorn dysplasia	Piepkorn dysplasia	Orphanet	156723	http://www.orpha.net/ORDO/Orphanet_156723
Hereditary hyperferritinemia-cataract syndrome	Hereditary hyperferritinemia-cataract syndrome	Orphanet	163	http://www.orpha.net/ORDO/Orphanet_163
Genetic endocrine growth disease	Genetic endocrine growth disease	Orphanet	156643	http://www.orpha.net/ORDO/Orphanet_156643
Rare genetic endocrine disease	Rare genetic endocrine disease	Orphanet	156638	http://www.orpha.net/ORDO/Orphanet_156638
Rare genetic cause of hypertension	Rare genetic cause of hypertension	Orphanet	156629	http://www.orpha.net/ORDO/Orphanet_156629
Cataract-aberrant oral frenula-growth delay syndrome	Cataract-aberrant oral frenula-growth delay syndrome	Orphanet	1373	http://www.orpha.net/ORDO/Orphanet_1373
Genetic urogenital tract malformation	Genetic urogenital tract malformation	Orphanet	156622	http://www.orpha.net/ORDO/Orphanet_156622
Rare genetic urogenital disease	Rare genetic urogenital disease	Orphanet	156619	http://www.orpha.net/ORDO/Orphanet_156619
Cataract-ataxia-deafness syndrome	Cataract-ataxia-deafness syndrome	Orphanet	1368	http://www.orpha.net/ORDO/Orphanet_1368
Rare genetic respiratory disease	Rare genetic respiratory disease	Orphanet	156610	http://www.orpha.net/ORDO/Orphanet_156610
Autosomal recessive palmoplantar keratoderma and congenital alopecia	Autosomal recessive palmoplantar keratoderma and congenital alopecia	Orphanet	1366	http://www.orpha.net/ORDO/Orphanet_1366
Genetic biliary tract disease	Genetic biliary tract disease	Orphanet	156607	http://www.orpha.net/ORDO/Orphanet_156607
Genetic parenchymatous liver disease	Genetic parenchymatous liver disease	Orphanet	156604	http://www.orpha.net/ORDO/Orphanet_156604
Rare genetic hepatic disease	Rare genetic hepatic disease	Orphanet	156601	http://www.orpha.net/ORDO/Orphanet_156601
Rare syndrome with cardiac malformations	Rare syndrome with cardiac malformations	Orphanet	156532	http://www.orpha.net/ORDO/Orphanet_156532
Tracheal anomaly	Tracheal anomaly	Orphanet	156252	http://www.orpha.net/ORDO/Orphanet_156252
Carnosinase deficiency	Carnosinase deficiency	Orphanet	1361	http://www.orpha.net/ORDO/Orphanet_1361
Cerebrocostomandibular syndrome	Cerebrocostomandibular syndrome	Orphanet	1393	http://www.orpha.net/ORDO/Orphanet_1393
Klüver-Bucy syndrome	Klüver-Bucy syndrome	Orphanet	157823	http://www.orpha.net/ORDO/Orphanet_157823
Congenital epulis	Congenital epulis	Orphanet	157826	http://www.orpha.net/ORDO/Orphanet_157826
Congenital pseudoarthrosis of the limbs	Congenital pseudoarthrosis of the limbs	Orphanet	157808	http://www.orpha.net/ORDO/Orphanet_157808
Night blindness-skeletal anomalies-dysmorphism syndrome	Night blindness-skeletal anomalies-dysmorphism syndrome	Orphanet	1390	http://www.orpha.net/ORDO/Orphanet_1390
Cold-induced sweating syndrome	Cold-induced sweating syndrome	Orphanet	157820	http://www.orpha.net/ORDO/Orphanet_157820
Cortical blindness-intellectual disability-polydactyly syndrome	Cortical blindness-intellectual disability-polydactyly syndrome	Orphanet	1389	http://www.orpha.net/ORDO/Orphanet_1389
Hyperplastic polyposis syndrome	Hyperplastic polyposis syndrome	Orphanet	157798	http://www.orpha.net/ORDO/Orphanet_157798
Catel-Manzke syndrome	Catel-Manzke syndrome	Orphanet	1388	http://www.orpha.net/ORDO/Orphanet_1388
Mesoaxial synostotic syndactyly with phalangeal reduction	Mesoaxial synostotic syndactyly with phalangeal reduction	Orphanet	157801	http://www.orpha.net/ORDO/Orphanet_157801
Cataract-intellectual disability-hypogonadism syndrome	Cataract-intellectual disability-hypogonadism syndrome	Orphanet	1387	http://www.orpha.net/ORDO/Orphanet_1387
Epithelioid hemangioendothelioma	Epithelioid hemangioendothelioma	Orphanet	157791	http://www.orpha.net/ORDO/Orphanet_157791
Hereditary mixed polyposis syndrome	Hereditary mixed polyposis syndrome	Orphanet	157794	http://www.orpha.net/ORDO/Orphanet_157794
Situs ambiguus	Situs ambiguus	Orphanet	157769	http://www.orpha.net/ORDO/Orphanet_157769
Hypospadias-hypertelorism-coloboma and deafness syndrome	Hypospadias-hypertelorism-coloboma and deafness syndrome	Orphanet	157788	http://www.orpha.net/ORDO/Orphanet_157788
Late infantile CACH syndrome	Late infantile CACH syndrome	Orphanet	157716	http://www.orpha.net/ORDO/Orphanet_157716
Cataract-intellectual disability-anal atresia-urinary defects syndrome	Cataract-intellectual disability-anal atresia-urinary defects syndrome	Orphanet	1381	http://www.orpha.net/ORDO/Orphanet_1381
Juvenile or adult CACH syndrome	Juvenile or adult CACH syndrome	Orphanet	157719	http://www.orpha.net/ORDO/Orphanet_157719
Cataract-nephropathy-encephalopathy syndrome	Cataract-nephropathy-encephalopathy syndrome	Orphanet	1380	http://www.orpha.net/ORDO/Orphanet_1380
Congenital or early infantile CACH syndrome	Congenital or early infantile CACH syndrome	Orphanet	157713	http://www.orpha.net/ORDO/Orphanet_157713
Dyssegmental dysplasia, Rolland-Desbuquois type	Dyssegmental dysplasia, Rolland-Desbuquois type	Orphanet	156731	http://www.orpha.net/ORDO/Orphanet_156731
Cataract-microcornea syndrome	Cataract-microcornea syndrome	Orphanet	1377	http://www.orpha.net/ORDO/Orphanet_1377
Hereditary hypophosphatemic rickets with hypercalciuria	Hereditary hypophosphatemic rickets with hypercalciuria	Orphanet	157215	http://www.orpha.net/ORDO/Orphanet_157215
Camptodactyly-taurinuria syndrome	Camptodactyly-taurinuria syndrome	Orphanet	1325	http://www.orpha.net/ORDO/Orphanet_1325
Isolated dystonia	Isolated dystonia	Orphanet	156159	http://www.orpha.net/ORDO/Orphanet_156159
Camptodactyly syndrome, Guadalajara type 2	Camptodactyly syndrome, Guadalajara type 2	Orphanet	1326	http://www.orpha.net/ORDO/Orphanet_1326
Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy	Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy	Orphanet	156156	http://www.orpha.net/ORDO/Orphanet_156156
Retinal ciliopathy	Retinal ciliopathy	Orphanet	156165	http://www.orpha.net/ORDO/Orphanet_156165
Camptodactyly syndrome, Guadalajara type 1	Camptodactyly syndrome, Guadalajara type 1	Orphanet	1327	http://www.orpha.net/ORDO/Orphanet_1327
Nephropathy-associated ciliopathy	Nephropathy-associated ciliopathy	Orphanet	156162	http://www.orpha.net/ORDO/Orphanet_156162
Camurati-Engelmann disease	Camurati-Engelmann disease	Orphanet	1328	http://www.orpha.net/ORDO/Orphanet_1328
Predominantly small-vessel vasculitis	Predominantly small-vessel vasculitis	Orphanet	156146	http://www.orpha.net/ORDO/Orphanet_156146
Camptodactyly-fibrous tissue hyperplasia-skeletal dysplasia syndrome	Camptodactyly-fibrous tissue hyperplasia-skeletal dysplasia syndrome	Orphanet	1321	http://www.orpha.net/ORDO/Orphanet_1321
Predominantly medium-vessel vasculitis	Predominantly medium-vessel vasculitis	Orphanet	156143	http://www.orpha.net/ORDO/Orphanet_156143
Camptodactyly-joint contractures-facial skeletal defects syndrome	Camptodactyly-joint contractures-facial skeletal defects syndrome	Orphanet	1323	http://www.orpha.net/ORDO/Orphanet_1323
Anti-neutrophil cytoplasmic antibody-associated vasculitis	Anti-neutrophil cytoplasmic antibody-associated vasculitis	Orphanet	156152	http://www.orpha.net/ORDO/Orphanet_156152
Immune complex mediated vasculitis	Immune complex mediated vasculitis	Orphanet	156149	http://www.orpha.net/ORDO/Orphanet_156149
Symmetrical thalamic calcifications	Symmetrical thalamic calcifications	Orphanet	1314	http://www.orpha.net/ORDO/Orphanet_1314
Primary early-onset glaucoma	Primary early-onset glaucoma	Orphanet	156005	http://www.orpha.net/ORDO/Orphanet_156005
CAMFAK syndrome	CAMFAK syndrome	Orphanet	1317	http://www.orpha.net/ORDO/Orphanet_1317
Predominantly large-vessel vasculitis	Predominantly large-vessel vasculitis	Orphanet	156140	http://www.orpha.net/ORDO/Orphanet_156140
Campomelia, Cumming type	Campomelia, Cumming type	Orphanet	1318	http://www.orpha.net/ORDO/Orphanet_1318
Camptobrachydactyly	Camptobrachydactyly	Orphanet	1319	http://www.orpha.net/ORDO/Orphanet_1319
Coloboma of inferior eyelid	Coloboma of inferior eyelid	Orphanet	155889	http://www.orpha.net/ORDO/Orphanet_155889
Feingold syndrome	Feingold syndrome	Orphanet	1305	http://www.orpha.net/ORDO/Orphanet_1305
Distal limb deficiencies-micrognathia syndrome	Distal limb deficiencies-micrognathia syndrome	Orphanet	1307	http://www.orpha.net/ORDO/Orphanet_1307
Coloboma of superior eyelid	Coloboma of superior eyelid	Orphanet	155884	http://www.orpha.net/ORDO/Orphanet_155884
Mandibulofacial dysostosis	Mandibulofacial dysostosis	Orphanet	155899	http://www.orpha.net/ORDO/Orphanet_155899
Otomandibular dysplasia	Otomandibular dysplasia	Orphanet	155896	http://www.orpha.net/ORDO/Orphanet_155896
Infantile choroidocerebral calcification syndrome	Infantile choroidocerebral calcification syndrome	Orphanet	1313	http://www.orpha.net/ORDO/Orphanet_1313
Syndrome or malformation associated with head and neck malformations	Syndrome or malformation associated with head and neck malformations	Orphanet	156237	http://www.orpha.net/ORDO/Orphanet_156237
Heart-hand syndrome type 2	Heart-hand syndrome type 2	Orphanet	1350	http://www.orpha.net/ORDO/Orphanet_1350
Pinnae and external auditory canal anomaly	Pinnae and external auditory canal anomaly	Orphanet	156243	http://www.orpha.net/ORDO/Orphanet_156243
Nose and cavum anomaly	Nose and cavum anomaly	Orphanet	156246	http://www.orpha.net/ORDO/Orphanet_156246
Congenital heart defect-round face-developmental delay syndrome	Congenital heart defect-round face-developmental delay syndrome	Orphanet	1355	http://www.orpha.net/ORDO/Orphanet_1355
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome	Atrioventricular defect-blepharophimosis-radial and anal defect syndrome	Orphanet	1352	http://www.orpha.net/ORDO/Orphanet_1352
Larynx anomaly	Larynx anomaly	Orphanet	156249	http://www.orpha.net/ORDO/Orphanet_156249
Hypoglossia/aglossia	Hypoglossia/aglossia	Orphanet	156212	http://www.orpha.net/ORDO/Orphanet_156212
Heart-hand syndrome type 3	Heart-hand syndrome type 3	Orphanet	1342	http://www.orpha.net/ORDO/Orphanet_1342
Oromandibular-limb anomalies syndrome	Oromandibular-limb anomalies syndrome	Orphanet	156215	http://www.orpha.net/ORDO/Orphanet_156215
Paralytic facial malformation	Paralytic facial malformation	Orphanet	156224	http://www.orpha.net/ORDO/Orphanet_156224
Cardiomyopathy-cataract-hip spine disease syndrome	Cardiomyopathy-cataract-hip spine disease syndrome	Orphanet	1345	http://www.orpha.net/ORDO/Orphanet_1345
Facial arteriovenous malformation	Facial arteriovenous malformation	Orphanet	156230	http://www.orpha.net/ORDO/Orphanet_156230
Retinal ciliopathy due to mutation in nephronophthisis gene	Retinal ciliopathy due to mutation in nephronophthisis gene	Orphanet	156180	http://www.orpha.net/ORDO/Orphanet_156180
Heart defect-tongue hamartoma-polysyndactyly syndrome	Heart defect-tongue hamartoma-polysyndactyly syndrome	Orphanet	1338	http://www.orpha.net/ORDO/Orphanet_1338
Retinal ciliopathy due to mutation in Bardet-Biedl gene	Retinal ciliopathy due to mutation in Bardet-Biedl gene	Orphanet	156183	http://www.orpha.net/ORDO/Orphanet_156183
Otomandibular dysplasia associated with monogenic syndromes	Otomandibular dysplasia associated with monogenic syndromes	Orphanet	156202	http://www.orpha.net/ORDO/Orphanet_156202
Cardiofaciocutaneous syndrome	Cardiofaciocutaneous syndrome	Orphanet	1340	http://www.orpha.net/ORDO/Orphanet_1340
Macroglossia	Macroglossia	Orphanet	156207	http://www.orpha.net/ORDO/Orphanet_156207
Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene	Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene	Orphanet	156168	http://www.orpha.net/ORDO/Orphanet_156168
Persistent Müllerian duct syndrome	Persistent Müllerian duct syndrome	Orphanet	2856	http://www.orpha.net/ORDO/Orphanet_2856
Retinal ciliopathy due to mutation in the RPGR gene	Retinal ciliopathy due to mutation in the RPGR gene	Orphanet	156171	http://www.orpha.net/ORDO/Orphanet_156171
Retinal ciliopathy due to mutation in the RPGRIP gene	Retinal ciliopathy due to mutation in the RPGRIP gene	Orphanet	156174	http://www.orpha.net/ORDO/Orphanet_156174
Hyperkeratosis-hyperpigmentation syndrome	Hyperkeratosis-hyperpigmentation syndrome	Orphanet	1336	http://www.orpha.net/ORDO/Orphanet_1336
Retinal ciliopathy due to mutation in Usher gene	Retinal ciliopathy due to mutation in Usher gene	Orphanet	156177	http://www.orpha.net/ORDO/Orphanet_156177
Pentalogy of Cantrell	Pentalogy of Cantrell	Orphanet	1335	http://www.orpha.net/ORDO/Orphanet_1335
Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome	Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome	Orphanet	1683	http://www.orpha.net/ORDO/Orphanet_1683
Arterial dissection-lentiginosis syndrome	Arterial dissection-lentiginosis syndrome	Orphanet	1682	http://www.orpha.net/ORDO/Orphanet_1682
Dincsoy-Salih-Patel syndrome	Dincsoy-Salih-Patel syndrome	Orphanet	1678	http://www.orpha.net/ORDO/Orphanet_1678
Fibular dimelia-diplopodia syndrome	Fibular dimelia-diplopodia syndrome	Orphanet	1757	http://www.orpha.net/ORDO/Orphanet_1757
Caudal duplication	Caudal duplication	Orphanet	1756	http://www.orpha.net/ORDO/Orphanet_1756
Familial progressive vestibulocochlear dysfunction	Familial progressive vestibulocochlear dysfunction	Orphanet	1767	http://www.orpha.net/ORDO/Orphanet_1767
Dyschondrosteosis-nephritis syndrome	Dyschondrosteosis-nephritis syndrome	Orphanet	1765	http://www.orpha.net/ORDO/Orphanet_1765
Inherited cancer-predisposing syndrome	Inherited cancer-predisposing syndrome	Orphanet	140162	http://www.orpha.net/ORDO/Orphanet_140162
Dysequilibrium syndrome	Dysequilibrium syndrome	Orphanet	1766	http://www.orpha.net/ORDO/Orphanet_1766
Temtamy syndrome	Temtamy syndrome	Orphanet	1777	http://www.orpha.net/ORDO/Orphanet_1777
Thakker-Donnai syndrome	Thakker-Donnai syndrome	Orphanet	1780	http://www.orpha.net/ORDO/Orphanet_1780
45,X/46,XY mixed gonadal dysgenesis	45,X/46,XY mixed gonadal dysgenesis	Orphanet	1772	http://www.orpha.net/ORDO/Orphanet_1772
Acrofrontofacionasal dysostosis	Acrofrontofacionasal dysostosis	Orphanet	1784	http://www.orpha.net/ORDO/Orphanet_1784
Dysosteosclerosis	Dysosteosclerosis	Orphanet	1782	http://www.orpha.net/ORDO/Orphanet_1782
Hypomandibular faciocranial dysostosis	Hypomandibular faciocranial dysostosis	Orphanet	1790	http://www.orpha.net/ORDO/Orphanet_1790
Humerospinal dysostosis	Humerospinal dysostosis	Orphanet	1792	http://www.orpha.net/ORDO/Orphanet_1792
Acrofacial dysostosis, Catania type	Acrofacial dysostosis, Catania type	Orphanet	1786	http://www.orpha.net/ORDO/Orphanet_1786
Acrofacial dysostosis, Rodríguez type	Acrofacial dysostosis, Rodríguez type	Orphanet	1788	http://www.orpha.net/ORDO/Orphanet_1788
Transcobalamin deficiency	Transcobalamin deficiency	Orphanet	859	http://www.orpha.net/ORDO/Orphanet_859
Hypomyelination with atrophy of basal ganglia and cerebellum	Hypomyelination with atrophy of basal ganglia and cerebellum	Orphanet	139441	http://www.orpha.net/ORDO/Orphanet_139441
Steroid dehydrogenase deficiency-dental anomalies syndrome	Steroid dehydrogenase deficiency-dental anomalies syndrome	Orphanet	3196	http://www.orpha.net/ORDO/Orphanet_3196
Leukoencephalopathy with bilateral anterior temporal lobe cysts	Leukoencephalopathy with bilateral anterior temporal lobe cysts	Orphanet	139444	http://www.orpha.net/ORDO/Orphanet_139444
Progressive cavitating leukoencephalopathy	Progressive cavitating leukoencephalopathy	Orphanet	139447	http://www.orpha.net/ORDO/Orphanet_139447
Hypotrichosis with juvenile macular degeneration	Hypotrichosis with juvenile macular degeneration	Orphanet	1573	http://www.orpha.net/ORDO/Orphanet_1573
Alpers-Huttenlocher syndrome	Alpers-Huttenlocher syndrome	Orphanet	726	http://www.orpha.net/ORDO/Orphanet_726
Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome	Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome	Orphanet	139450	http://www.orpha.net/ORDO/Orphanet_139450
Autosomal recessive bestrophinopathy	Autosomal recessive bestrophinopathy	Orphanet	139455	http://www.orpha.net/ORDO/Orphanet_139455
Retinal degeneration-nanophthalmos-glaucoma syndrome	Retinal degeneration-nanophthalmos-glaucoma syndrome	Orphanet	1574	http://www.orpha.net/ORDO/Orphanet_1574
SERKAL syndrome	SERKAL syndrome	Orphanet	139466	http://www.orpha.net/ORDO/Orphanet_139466
Distal monosomy 15q	Distal monosomy 15q	Orphanet	1596	http://www.orpha.net/ORDO/Orphanet_1596
Microphthalmia with brain and digit anomalies	Microphthalmia with brain and digit anomalies	Orphanet	139471	http://www.orpha.net/ORDO/Orphanet_139471
17q11.2 microduplication syndrome	17q11.2 microduplication syndrome	Orphanet	139474	http://www.orpha.net/ORDO/Orphanet_139474
Al-Gazali-Dattani syndrome	Al-Gazali-Dattani syndrome	Orphanet	139477	http://www.orpha.net/ORDO/Orphanet_139477
2q24 microdeletion syndrome	2q24 microdeletion syndrome	Orphanet	1617	http://www.orpha.net/ORDO/Orphanet_1617
1p36 deletion syndrome	1p36 deletion syndrome	Orphanet	1606	http://www.orpha.net/ORDO/Orphanet_1606
Autosomal recessive spastic paraplegia type 39	Autosomal recessive spastic paraplegia type 39	Orphanet	139480	http://www.orpha.net/ORDO/Orphanet_139480
Oculocerebrocutaneous syndrome	Oculocerebrocutaneous syndrome	Orphanet	1647	http://www.orpha.net/ORDO/Orphanet_1647
Autosomal recessive ataxia due to ubiquinone deficiency	Autosomal recessive ataxia due to ubiquinone deficiency	Orphanet	139485	http://www.orpha.net/ORDO/Orphanet_139485
Hemochromatosis type 4	Hemochromatosis type 4	Orphanet	139491	http://www.orpha.net/ORDO/Orphanet_139491
NON RARE IN EUROPE: Hemochromatosis type 1	NON RARE IN EUROPE: Hemochromatosis type 1	Orphanet	139498	http://www.orpha.net/ORDO/Orphanet_139498
Dentin dysplasia	Dentin dysplasia	Orphanet	1653	http://www.orpha.net/ORDO/Orphanet_1653
African iron overload	African iron overload	Orphanet	139507	http://www.orpha.net/ORDO/Orphanet_139507
Charcot-Marie-Tooth disease type 4J	Charcot-Marie-Tooth disease type 4J	Orphanet	139515	http://www.orpha.net/ORDO/Orphanet_139515
Neuropathy with hearing impairment	Neuropathy with hearing impairment	Orphanet	139512	http://www.orpha.net/ORDO/Orphanet_139512
Dermatoosteolysis, Kirghizian type	Dermatoosteolysis, Kirghizian type	Orphanet	1657	http://www.orpha.net/ORDO/Orphanet_1657
Distal hereditary motor neuropathy type 2	Distal hereditary motor neuropathy type 2	Orphanet	139525	http://www.orpha.net/ORDO/Orphanet_139525
Absence of fingerprints-congenital milia syndrome	Absence of fingerprints-congenital milia syndrome	Orphanet	1658	http://www.orpha.net/ORDO/Orphanet_1658
Distal hereditary motor neuropathy type 1	Distal hereditary motor neuropathy type 1	Orphanet	139518	http://www.orpha.net/ORDO/Orphanet_139518
Dermatoleukodystrophy	Dermatoleukodystrophy	Orphanet	1659	http://www.orpha.net/ORDO/Orphanet_1659
Distal spinal muscular atrophy type 3	Distal spinal muscular atrophy type 3	Orphanet	139547	http://www.orpha.net/ORDO/Orphanet_139547
Distal hereditary motor neuropathy type 5	Distal hereditary motor neuropathy type 5	Orphanet	139536	http://www.orpha.net/ORDO/Orphanet_139536
Dermoodontodysplasia	Dermoodontodysplasia	Orphanet	1660	http://www.orpha.net/ORDO/Orphanet_1660
X-linked distal spinal muscular atrophy type 3	X-linked distal spinal muscular atrophy type 3	Orphanet	139557	http://www.orpha.net/ORDO/Orphanet_139557
X-linked corneal dermoid	X-linked corneal dermoid	Orphanet	1661	http://www.orpha.net/ORDO/Orphanet_1661
Restrictive dermopathy	Restrictive dermopathy	Orphanet	1662	http://www.orpha.net/ORDO/Orphanet_1662
Distal hereditary motor neuropathy, Jerash type	Distal hereditary motor neuropathy, Jerash type	Orphanet	139552	http://www.orpha.net/ORDO/Orphanet_139552
Hereditary sensory and autonomic neuropathy with deafness and global delay	Hereditary sensory and autonomic neuropathy with deafness and global delay	Orphanet	139573	http://www.orpha.net/ORDO/Orphanet_139573
Sporadic fetal brain disruption sequence	Sporadic fetal brain disruption sequence	Orphanet	1665	http://www.orpha.net/ORDO/Orphanet_1665
Hereditary sensory and autonomic neuropathy type 1B	Hereditary sensory and autonomic neuropathy type 1B	Orphanet	139564	http://www.orpha.net/ORDO/Orphanet_139564
X-linked hereditary sensory and autonomic neuropathy with deafness	X-linked hereditary sensory and autonomic neuropathy with deafness	Orphanet	139583	http://www.orpha.net/ORDO/Orphanet_139583
Wolcott-Rallison syndrome	Wolcott-Rallison syndrome	Orphanet	1667	http://www.orpha.net/ORDO/Orphanet_1667
Mutilating hereditary sensory neuropathy with spastic paraplegia	Mutilating hereditary sensory neuropathy with spastic paraplegia	Orphanet	139578	http://www.orpha.net/ORDO/Orphanet_139578
Distal hereditary motor neuropathy type 7	Distal hereditary motor neuropathy type 7	Orphanet	139589	http://www.orpha.net/ORDO/Orphanet_139589
Split cord malformation type I	Split cord malformation type I	Orphanet	1671	http://www.orpha.net/ORDO/Orphanet_1671
Digitorenocerebral syndrome	Digitorenocerebral syndrome	Orphanet	1674	http://www.orpha.net/ORDO/Orphanet_1674
Stapes ankylosis with broad thumbs and toes	Stapes ankylosis with broad thumbs and toes	Orphanet	140917	http://www.orpha.net/ORDO/Orphanet_140917
Cryptorchidism-arachnodactyly-intellectual disability syndrome	Cryptorchidism-arachnodactyly-intellectual disability syndrome	Orphanet	1548	http://www.orpha.net/ORDO/Orphanet_1548
Cryptomicrotia-brachydactyly-excess fingertip arch syndrome	Cryptomicrotia-brachydactyly-excess fingertip arch syndrome	Orphanet	1547	http://www.orpha.net/ORDO/Orphanet_1547
Titin-related  limb-girdle muscular dystrophy R10	Titin-related  limb-girdle muscular dystrophy R10	Orphanet	140922	http://www.orpha.net/ORDO/Orphanet_140922
Crisponi syndrome	Crisponi syndrome	Orphanet	1545	http://www.orpha.net/ORDO/Orphanet_1545
Hyperlipidemia due to hepatic triacylglycerol lipase deficiency	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency	Orphanet	140905	http://www.orpha.net/ORDO/Orphanet_140905
Jackson-Weiss syndrome	Jackson-Weiss syndrome	Orphanet	1540	http://www.orpha.net/ORDO/Orphanet_1540
Craniosynostosis-dysmorphism-brachydactyly syndrome	Craniosynostosis-dysmorphism-brachydactyly syndrome	Orphanet	1535	http://www.orpha.net/ORDO/Orphanet_1535
Brachydactyly type B2	Brachydactyly type B2	Orphanet	140908	http://www.orpha.net/ORDO/Orphanet_140908
Craniosynostosis-fibular aplasia syndrome	Craniosynostosis-fibular aplasia syndrome	Orphanet	1533	http://www.orpha.net/ORDO/Orphanet_1533
Joubert syndrome and related disorders	Joubert syndrome and related disorders	Orphanet	140874	http://www.orpha.net/ORDO/Orphanet_140874
Severe acute respiratory syndrome	Severe acute respiratory syndrome	Orphanet	140896	http://www.orpha.net/ORDO/Orphanet_140896
Gómez-López-Hernández syndrome	Gómez-López-Hernández syndrome	Orphanet	1532	http://www.orpha.net/ORDO/Orphanet_1532
Syndactyly-telecanthus-anogenital and renal malformations syndrome	Syndactyly-telecanthus-anogenital and renal malformations syndrome	Orphanet	140952	http://www.orpha.net/ORDO/Orphanet_140952
Autosomal dominant macrothrombocytopenia	Autosomal dominant macrothrombocytopenia	Orphanet	140957	http://www.orpha.net/ORDO/Orphanet_140957
CLOVES syndrome	CLOVES syndrome	Orphanet	140944	http://www.orpha.net/ORDO/Orphanet_140944
Low-flow priapism	Low-flow priapism	Orphanet	140949	http://www.orpha.net/ORDO/Orphanet_140949
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	Orphanet	1555	http://www.orpha.net/ORDO/Orphanet_1555
Lelis syndrome	Lelis syndrome	Orphanet	140936	http://www.orpha.net/ORDO/Orphanet_140936
Short stature due to primary acid-labile subunit deficiency	Short stature due to primary acid-labile subunit deficiency	Orphanet	140941	http://www.orpha.net/ORDO/Orphanet_140941
Curry-Jones syndrome	Curry-Jones syndrome	Orphanet	1553	http://www.orpha.net/ORDO/Orphanet_1553
Benign familial neonatal-infantile seizures	Benign familial neonatal-infantile seizures	Orphanet	140927	http://www.orpha.net/ORDO/Orphanet_140927
Linear atrophoderma of Moulin	Linear atrophoderma of Moulin	Orphanet	140933	http://www.orpha.net/ORDO/Orphanet_140933
Primary angiitis of the central nervous system	Primary angiitis of the central nervous system	Orphanet	140989	http://www.orpha.net/ORDO/Orphanet_140989
Dandy-Walker malformation-postaxial polydactyly syndrome	Dandy-Walker malformation-postaxial polydactyly syndrome	Orphanet	1566	http://www.orpha.net/ORDO/Orphanet_1566
RHYNS syndrome	RHYNS syndrome	Orphanet	140976	http://www.orpha.net/ORDO/Orphanet_140976
Dahlberg-Borer-Newcomer syndrome	Dahlberg-Borer-Newcomer syndrome	Orphanet	1563	http://www.orpha.net/ORDO/Orphanet_1563
Saldino-Mainzer syndrome	Saldino-Mainzer syndrome	Orphanet	140969	http://www.orpha.net/ORDO/Orphanet_140969
Palmoplantar keratoderma, Nagashima type	Palmoplantar keratoderma, Nagashima type	Orphanet	140966	http://www.orpha.net/ORDO/Orphanet_140966
Dacryocystitis-osteopoikilosis syndrome	Dacryocystitis-osteopoikilosis syndrome	Orphanet	1562	http://www.orpha.net/ORDO/Orphanet_1562
Bilateral microtia-deafness-cleft palate syndrome	Bilateral microtia-deafness-cleft palate syndrome	Orphanet	140963	http://www.orpha.net/ORDO/Orphanet_140963
Cutis verticis gyrata-intellectual disability syndrome	Cutis verticis gyrata-intellectual disability syndrome	Orphanet	1557	http://www.orpha.net/ORDO/Orphanet_1557
Cervical dermoid cyst	Cervical dermoid cyst	Orphanet	141046	http://www.orpha.net/ORDO/Orphanet_141046
Guanidinoacetate methyltransferase deficiency	Guanidinoacetate methyltransferase deficiency	Orphanet	382	http://www.orpha.net/ORDO/Orphanet_382
Prolidase deficiency	Prolidase deficiency	Orphanet	742	http://www.orpha.net/ORDO/Orphanet_742
Fourth branchial cleft anomaly	Fourth branchial cleft anomaly	Orphanet	141037	http://www.orpha.net/ORDO/Orphanet_141037
Third branchial cleft anomaly	Third branchial cleft anomaly	Orphanet	141030	http://www.orpha.net/ORDO/Orphanet_141030
Second branchial cleft anomaly	Second branchial cleft anomaly	Orphanet	141022	http://www.orpha.net/ORDO/Orphanet_141022
Lipodystrophy due to peptidic growth factors deficiency	Lipodystrophy due to peptidic growth factors deficiency	Orphanet	1979	http://www.orpha.net/ORDO/Orphanet_1979
First branchial cleft anomaly	First branchial cleft anomaly	Orphanet	141013	http://www.orpha.net/ORDO/Orphanet_141013
Knobloch syndrome	Knobloch syndrome	Orphanet	1571	http://www.orpha.net/ORDO/Orphanet_1571
Orofaciodigital syndrome type 9	Orofaciodigital syndrome type 9	Orphanet	141007	http://www.orpha.net/ORDO/Orphanet_141007
Familial benign copper deficiency	Familial benign copper deficiency	Orphanet	1551	http://www.orpha.net/ORDO/Orphanet_1551
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome	X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome	Orphanet	1568	http://www.orpha.net/ORDO/Orphanet_1568
Orofaciodigital syndrome type 11	Orofaciodigital syndrome type 11	Orphanet	141000	http://www.orpha.net/ORDO/Orphanet_141000
Orofaciodigital syndrome	Orofaciodigital syndrome	Orphanet	140997	http://www.orpha.net/ORDO/Orphanet_140997
De Sanctis-Cacchione syndrome	De Sanctis-Cacchione syndrome	Orphanet	1569	http://www.orpha.net/ORDO/Orphanet_1569
X-linked complicated corpus callosum dysgenesis	X-linked complicated corpus callosum dysgenesis	Orphanet	1497	http://www.orpha.net/ORDO/Orphanet_1497
Primary intraosseous venous malformation	Primary intraosseous venous malformation	Orphanet	140436	http://www.orpha.net/ORDO/Orphanet_140436
Autosomal dominant hereditary demyelinating motor and sensory neuropathy	Autosomal dominant hereditary demyelinating motor and sensory neuropathy	Orphanet	140453	http://www.orpha.net/ORDO/Orphanet_140453
Vici syndrome	Vici syndrome	Orphanet	1493	http://www.orpha.net/ORDO/Orphanet_1493
Secondary hypoparathyroidism due to impaired parathormon secretion	Secondary hypoparathyroidism due to impaired parathormon secretion	Orphanet	140286	http://www.orpha.net/ORDO/Orphanet_140286
Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Orphanet	1495	http://www.orpha.net/ORDO/Orphanet_1495
Autosomal recessive distal hereditary motor neuropathy	Autosomal recessive distal hereditary motor neuropathy	Orphanet	140468	http://www.orpha.net/ORDO/Orphanet_140468
Coxopodopatellar syndrome	Coxopodopatellar syndrome	Orphanet	1509	http://www.orpha.net/ORDO/Orphanet_1509
Hereditary sensory and autonomic neuropathy	Hereditary sensory and autonomic neuropathy	Orphanet	140471	http://www.orpha.net/ORDO/Orphanet_140471
Crane-Heise syndrome	Crane-Heise syndrome	Orphanet	1512	http://www.orpha.net/ORDO/Orphanet_1512
Autosomal dominant hereditary sensory and autonomic neuropathy	Autosomal dominant hereditary sensory and autonomic neuropathy	Orphanet	140474	http://www.orpha.net/ORDO/Orphanet_140474
Autosomal recessive hereditary sensory and autonomic neuropathy	Autosomal recessive hereditary sensory and autonomic neuropathy	Orphanet	140477	http://www.orpha.net/ORDO/Orphanet_140477
Thin ribs-tubular bones-dysmorphism syndrome	Thin ribs-tubular bones-dysmorphism syndrome	Orphanet	1506	http://www.orpha.net/ORDO/Orphanet_1506
Autosomal dominant hereditary axonal motor and sensory neuropathy	Autosomal dominant hereditary axonal motor and sensory neuropathy	Orphanet	140456	http://www.orpha.net/ORDO/Orphanet_140456
Autosomal recessive hereditary demyelinating motor and sensory neuropathy	Autosomal recessive hereditary demyelinating motor and sensory neuropathy	Orphanet	140459	http://www.orpha.net/ORDO/Orphanet_140459
Coxoauricular syndrome	Coxoauricular syndrome	Orphanet	1508	http://www.orpha.net/ORDO/Orphanet_1508
Autosomal dominant distal hereditary motor neuropathy	Autosomal dominant distal hereditary motor neuropathy	Orphanet	140465	http://www.orpha.net/ORDO/Orphanet_140465
Autosomal recessive Robinow syndrome	Autosomal recessive Robinow syndrome	Orphanet	1507	http://www.orpha.net/ORDO/Orphanet_1507
Hypertrichotic osteochondrodysplasia, Cantu type	Hypertrichotic osteochondrodysplasia, Cantu type	Orphanet	1517	http://www.orpha.net/ORDO/Orphanet_1517
Hypertelorism, Teebi type	Hypertelorism, Teebi type	Orphanet	1519	http://www.orpha.net/ORDO/Orphanet_1519
Craniofrontonasal dysplasia	Craniofrontonasal dysplasia	Orphanet	1520	http://www.orpha.net/ORDO/Orphanet_1520
Craniodiaphyseal dysplasia	Craniodiaphyseal dysplasia	Orphanet	1513	http://www.orpha.net/ORDO/Orphanet_1513
Craniodigital-intellectual disability syndrome	Craniodigital-intellectual disability syndrome	Orphanet	1514	http://www.orpha.net/ORDO/Orphanet_1514
Autosomal dominant slowed nerve conduction velocity	Autosomal dominant slowed nerve conduction velocity	Orphanet	140481	http://www.orpha.net/ORDO/Orphanet_140481
Cranioectodermal dysplasia	Cranioectodermal dysplasia	Orphanet	1515	http://www.orpha.net/ORDO/Orphanet_1515
Craniofacial dyssynostosis	Craniofacial dyssynostosis	Orphanet	1516	http://www.orpha.net/ORDO/Orphanet_1516
Craniosynostosis, Philadelphia type	Craniosynostosis, Philadelphia type	Orphanet	1527	http://www.orpha.net/ORDO/Orphanet_1527
Neuro-ophthalmological disease	Neuro-ophthalmological disease	Orphanet	140653	http://www.orpha.net/ORDO/Orphanet_140653
Craniotelencephalic dysplasia	Craniotelencephalic dysplasia	Orphanet	1528	http://www.orpha.net/ORDO/Orphanet_1528
Craniofacial-deafness-hand syndrome	Craniofacial-deafness-hand syndrome	Orphanet	1529	http://www.orpha.net/ORDO/Orphanet_1529
Craniofrontonasal dysplasia-Poland anomaly syndrome	Craniofrontonasal dysplasia-Poland anomaly syndrome	Orphanet	1521	http://www.orpha.net/ORDO/Orphanet_1521
Craniometaphyseal dysplasia	Craniometaphyseal dysplasia	Orphanet	1522	http://www.orpha.net/ORDO/Orphanet_1522
Cranio-osteoarthropathy	Cranio-osteoarthropathy	Orphanet	1525	http://www.orpha.net/ORDO/Orphanet_1525
Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome	Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome	Orphanet	1969	http://www.orpha.net/ORDO/Orphanet_1969
Flat face-microstomia-ear anomaly syndrome	Flat face-microstomia-ear anomaly syndrome	Orphanet	1968	http://www.orpha.net/ORDO/Orphanet_1968
Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome	Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome	Orphanet	1970	http://www.orpha.net/ORDO/Orphanet_1970
Faciocardiorenal syndrome	Faciocardiorenal syndrome	Orphanet	1973	http://www.orpha.net/ORDO/Orphanet_1973
Lethal faciocardiomelic dysplasia	Lethal faciocardiomelic dysplasia	Orphanet	1972	http://www.orpha.net/ORDO/Orphanet_1972
Autosomal recessive faciodigitogenital syndrome	Autosomal recessive faciodigitogenital syndrome	Orphanet	1974	http://www.orpha.net/ORDO/Orphanet_1974
Exostoses-anetodermia-brachydactyly type E syndrome	Exostoses-anetodermia-brachydactyly type E syndrome	Orphanet	1962	http://www.orpha.net/ORDO/Orphanet_1962
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome	Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome	Orphanet	1964	http://www.orpha.net/ORDO/Orphanet_1964
Dysplasia epiphysealis hemimelica	Dysplasia epiphysealis hemimelica	Orphanet	1822	http://www.orpha.net/ORDO/Orphanet_1822
Lowry-Wood syndrome	Lowry-Wood syndrome	Orphanet	1824	http://www.orpha.net/ORDO/Orphanet_1824
Pacman dysplasia	Pacman dysplasia	Orphanet	1952	http://www.orpha.net/ORDO/Orphanet_1952
Congenital lethal erythroderma	Congenital lethal erythroderma	Orphanet	1954	http://www.orpha.net/ORDO/Orphanet_1954
Spinocerebellar ataxia type 34	Spinocerebellar ataxia type 34	Orphanet	1955	http://www.orpha.net/ORDO/Orphanet_1955
Diabetic embryopathy	Diabetic embryopathy	Orphanet	1926	http://www.orpha.net/ORDO/Orphanet_1926
Maternal phenylketonuria	Maternal phenylketonuria	Orphanet	2209	http://www.orpha.net/ORDO/Orphanet_2209
Emery-Nelson syndrome	Emery-Nelson syndrome	Orphanet	1927	http://www.orpha.net/ORDO/Orphanet_1927
Eng-Strom syndrome	Eng-Strom syndrome	Orphanet	1937	http://www.orpha.net/ORDO/Orphanet_1937
Shoulder and thorax deformity-congenital heart disease syndrome	Shoulder and thorax deformity-congenital heart disease syndrome	Orphanet	1940	http://www.orpha.net/ORDO/Orphanet_1940
Toluene embryopathy	Toluene embryopathy	Orphanet	1920	http://www.orpha.net/ORDO/Orphanet_1920
Phenobarbital embryopathy	Phenobarbital embryopathy	Orphanet	1919	http://www.orpha.net/ORDO/Orphanet_1919
Fetal methylmercury syndrome	Fetal methylmercury syndrome	Orphanet	1917	http://www.orpha.net/ORDO/Orphanet_1917
Methimazole embryofetopathy	Methimazole embryofetopathy	Orphanet	1923	http://www.orpha.net/ORDO/Orphanet_1923
Fetal hydantoin syndrome	Fetal hydantoin syndrome	Orphanet	1912	http://www.orpha.net/ORDO/Orphanet_1912
Fetal minoxidil syndrome	Fetal minoxidil syndrome	Orphanet	1918	http://www.orpha.net/ORDO/Orphanet_1918
Cocaine embryofetopathy	Cocaine embryofetopathy	Orphanet	1911	http://www.orpha.net/ORDO/Orphanet_1911
Fetal iodine syndrome	Fetal iodine syndrome	Orphanet	1910	http://www.orpha.net/ORDO/Orphanet_1910
Diethylstilbestrol syndrome	Diethylstilbestrol syndrome	Orphanet	1916	http://www.orpha.net/ORDO/Orphanet_1916
Fetal cytomegalovirus syndrome	Fetal cytomegalovirus syndrome	Orphanet	294	http://www.orpha.net/ORDO/Orphanet_294
Vitamin K antagonist embryofetopathy	Vitamin K antagonist embryofetopathy	Orphanet	1914	http://www.orpha.net/ORDO/Orphanet_1914
Fetal trimethadione syndrome	Fetal trimethadione syndrome	Orphanet	1913	http://www.orpha.net/ORDO/Orphanet_1913
EEC syndrome	EEC syndrome	Orphanet	1896	http://www.orpha.net/ORDO/Orphanet_1896
EEM syndrome	EEM syndrome	Orphanet	1897	http://www.orpha.net/ORDO/Orphanet_1897
Aminopterin/methotrexate embryofetopathy	Aminopterin/methotrexate embryofetopathy	Orphanet	1908	http://www.orpha.net/ORDO/Orphanet_1908
Indomethacin embryofetopathy	Indomethacin embryofetopathy	Orphanet	1909	http://www.orpha.net/ORDO/Orphanet_1909
Fetal valproate syndrome	Fetal valproate syndrome	Orphanet	1906	http://www.orpha.net/ORDO/Orphanet_1906
Ectrodactyly-ectodermal dysplasia without clefting syndrome	Ectrodactyly-ectodermal dysplasia without clefting syndrome	Orphanet	1888	http://www.orpha.net/ORDO/Orphanet_1888
Ectrodactyly-cleft palate syndrome	Ectrodactyly-cleft palate syndrome	Orphanet	1889	http://www.orpha.net/ORDO/Orphanet_1889
Edinburgh malformation syndrome	Edinburgh malformation syndrome	Orphanet	1895	http://www.orpha.net/ORDO/Orphanet_1895
Intellectual disability-spasticity-ectrodactyly syndrome	Intellectual disability-spasticity-ectrodactyly syndrome	Orphanet	1891	http://www.orpha.net/ORDO/Orphanet_1891
Ectrodactyly-polydactyly syndrome	Ectrodactyly-polydactyly syndrome	Orphanet	1892	http://www.orpha.net/ORDO/Orphanet_1892
Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome	Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome	Orphanet	1816	http://www.orpha.net/ORDO/Orphanet_1816
Focal facial dermal dysplasia type III	Focal facial dermal dysplasia type III	Orphanet	1807	http://www.orpha.net/ORDO/Orphanet_1807
Ectodermal dysplasia, trichoodontoonychial type	Ectodermal dysplasia, trichoodontoonychial type	Orphanet	1818	http://www.orpha.net/ORDO/Orphanet_1818
Ectodermal dysplasia-sensorineural deafness syndrome	Ectodermal dysplasia-sensorineural deafness syndrome	Orphanet	1883	http://www.orpha.net/ORDO/Orphanet_1883
Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome	Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome	Orphanet	1882	http://www.orpha.net/ORDO/Orphanet_1882
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome	Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome	Orphanet	1875	http://www.orpha.net/ORDO/Orphanet_1875
Jalili syndrome	Jalili syndrome	Orphanet	1873	http://www.orpha.net/ORDO/Orphanet_1873
Melorheostosis with osteopoikilosis	Melorheostosis with osteopoikilosis	Orphanet	1879	http://www.orpha.net/ORDO/Orphanet_1879
Hereditary bullous dystrophy, macular type	Hereditary bullous dystrophy, macular type	Orphanet	1867	http://www.orpha.net/ORDO/Orphanet_1867
Cone rod dystrophy	Cone rod dystrophy	Orphanet	1872	http://www.orpha.net/ORDO/Orphanet_1872
Progressive cone dystrophy	Progressive cone dystrophy	Orphanet	1871	http://www.orpha.net/ORDO/Orphanet_1871
Thanatophoric dysplasia type 1	Thanatophoric dysplasia type 1	Orphanet	1860	http://www.orpha.net/ORDO/Orphanet_1860
Thoracic dysplasia-hydrocephalus syndrome	Thoracic dysplasia-hydrocephalus syndrome	Orphanet	1861	http://www.orpha.net/ORDO/Orphanet_1861
Dyssegmental dysplasia, Silverman-Handmaker type	Dyssegmental dysplasia, Silverman-Handmaker type	Orphanet	1865	http://www.orpha.net/ORDO/Orphanet_1865
Skeletal dysplasia-epilepsy-short stature syndrome	Skeletal dysplasia-epilepsy-short stature syndrome	Orphanet	1858	http://www.orpha.net/ORDO/Orphanet_1858
Spondylometaphyseal dysplasia	Spondylometaphyseal dysplasia	Orphanet	254	http://www.orpha.net/ORDO/Orphanet_254
Renal dysplasia-megalocystis-sirenomelia syndrome	Renal dysplasia-megalocystis-sirenomelia syndrome	Orphanet	1850	http://www.orpha.net/ORDO/Orphanet_1850
X-linked retinal dysplasia	X-linked retinal dysplasia	Orphanet	1852	http://www.orpha.net/ORDO/Orphanet_1852
Bone dysplasia, lethal Holmgren type	Bone dysplasia, lethal Holmgren type	Orphanet	1842	http://www.orpha.net/ORDO/Orphanet_1842
Hereditary mucoepithelial dysplasia	Hereditary mucoepithelial dysplasia	Orphanet	1839	http://www.orpha.net/ORDO/Orphanet_1839
Metaphyseal dysplasia without hypotrichosis	Metaphyseal dysplasia without hypotrichosis	Orphanet	1838	http://www.orpha.net/ORDO/Orphanet_1838
Ulna metaphyseal dysplasia syndrome	Ulna metaphyseal dysplasia syndrome	Orphanet	1837	http://www.orpha.net/ORDO/Orphanet_1837
Mesomelic dysplasia, Kantaputra type	Mesomelic dysplasia, Kantaputra type	Orphanet	1836	http://www.orpha.net/ORDO/Orphanet_1836
Axial mesodermal dysplasia spectrum	Axial mesodermal dysplasia spectrum	Orphanet	1834	http://www.orpha.net/ORDO/Orphanet_1834
De Hauwere syndrome	De Hauwere syndrome	Orphanet	1831	http://www.orpha.net/ORDO/Orphanet_1831
Schimke immuno-osseous dysplasia	Schimke immuno-osseous dysplasia	Orphanet	1830	http://www.orpha.net/ORDO/Orphanet_1830
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome	Epiphyseal dysplasia-hearing loss-dysmorphism syndrome	Orphanet	1825	http://www.orpha.net/ORDO/Orphanet_1825
Multiple epiphyseal dysplasia	Multiple epiphyseal dysplasia	Orphanet	251	http://www.orpha.net/ORDO/Orphanet_251
Odontomicronychial dysplasia	Odontomicronychial dysplasia	Orphanet	1811	http://www.orpha.net/ORDO/Orphanet_1811
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome	Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome	Orphanet	1812	http://www.orpha.net/ORDO/Orphanet_1812
Hidrotic ectodermal dysplasia, Christianson-Fourie type	Hidrotic ectodermal dysplasia, Christianson-Fourie type	Orphanet	1808	http://www.orpha.net/ORDO/Orphanet_1808
Hidrotic ectodermal dysplasia, Halal type	Hidrotic ectodermal dysplasia, Halal type	Orphanet	1809	http://www.orpha.net/ORDO/Orphanet_1809
Dyssegmental dysplasia-glaucoma syndrome	Dyssegmental dysplasia-glaucoma syndrome	Orphanet	1804	http://www.orpha.net/ORDO/Orphanet_1804
Ectodermal dysplasia-blindness syndrome	Ectodermal dysplasia-blindness syndrome	Orphanet	1806	http://www.orpha.net/ORDO/Orphanet_1806
Ghosal hematodiaphyseal dysplasia	Ghosal hematodiaphyseal dysplasia	Orphanet	1802	http://www.orpha.net/ORDO/Orphanet_1802
Thoracomelic dysplasia	Thoracomelic dysplasia	Orphanet	1803	http://www.orpha.net/ORDO/Orphanet_1803
Kyphomelic dysplasia	Kyphomelic dysplasia	Orphanet	1801	http://www.orpha.net/ORDO/Orphanet_1801
Dysostosis, Stanescu type	Dysostosis, Stanescu type	Orphanet	1798	http://www.orpha.net/ORDO/Orphanet_1798
Familial developmental dysphasia	Familial developmental dysphasia	Orphanet	1799	http://www.orpha.net/ORDO/Orphanet_1799
Oculomaxillofacial dysostosis	Oculomaxillofacial dysostosis	Orphanet	1794	http://www.orpha.net/ORDO/Orphanet_1794
Isolated hemihyperplasia	Isolated hemihyperplasia	Orphanet	2128	http://www.orpha.net/ORDO/Orphanet_2128
Hemimelia	Hemimelia	Orphanet	2130	http://www.orpha.net/ORDO/Orphanet_2130
Hennekam syndrome	Hennekam syndrome	Orphanet	2136	http://www.orpha.net/ORDO/Orphanet_2136
46,XX ovotesticular disorder of sex development	46,XX ovotesticular disorder of sex development	Orphanet	2138	http://www.orpha.net/ORDO/Orphanet_2138
Hernández-Aguirre Negrete syndrome	Hernández-Aguirre Negrete syndrome	Orphanet	2139	http://www.orpha.net/ORDO/Orphanet_2139
Diaphragmatic defect-limb deficiency-skull defect syndrome	Diaphragmatic defect-limb deficiency-skull defect syndrome	Orphanet	2141	http://www.orpha.net/ORDO/Orphanet_2141
Donnai-Barrow syndrome	Donnai-Barrow syndrome	Orphanet	2143	http://www.orpha.net/ORDO/Orphanet_2143
Craniosynostosis, Herrmann-Opitz type	Craniosynostosis, Herrmann-Opitz type	Orphanet	2145	http://www.orpha.net/ORDO/Orphanet_2145
Nodular neuronal heterotopia	Nodular neuronal heterotopia	Orphanet	2149	http://www.orpha.net/ORDO/Orphanet_2149
Lissencephaly type 1 due to doublecortin gene mutation	Lissencephaly type 1 due to doublecortin gene mutation	Orphanet	2148	http://www.orpha.net/ORDO/Orphanet_2148
Hemophagocytic syndrome associated with an infection	Hemophagocytic syndrome associated with an infection	Orphanet	158048	http://www.orpha.net/ORDO/Orphanet_158048
Acquired hemophagocytic lymphohistiocytosis associated with malignant disease	Acquired hemophagocytic lymphohistiocytosis associated with malignant disease	Orphanet	158057	http://www.orpha.net/ORDO/Orphanet_158057
Hallermann-Streiff syndrome	Hallermann-Streiff syndrome	Orphanet	2108	http://www.orpha.net/ORDO/Orphanet_2108
Macrophage activation syndrome	Macrophage activation syndrome	Orphanet	158061	http://www.orpha.net/ORDO/Orphanet_158061
Hall-Riggs syndrome	Hall-Riggs syndrome	Orphanet	2107	http://www.orpha.net/ORDO/Orphanet_2107
Hallux varus-preaxial polysyndactyly syndrome	Hallux varus-preaxial polysyndactyly syndrome	Orphanet	2110	http://www.orpha.net/ORDO/Orphanet_2110
Hallermann-Streiff-like syndrome	Hallermann-Streiff-like syndrome	Orphanet	2109	http://www.orpha.net/ORDO/Orphanet_2109
Cystic hamartoma of lung and kidney	Cystic hamartoma of lung and kidney	Orphanet	2111	http://www.orpha.net/ORDO/Orphanet_2111
Genetic dementia	Genetic dementia	Orphanet	158124	http://www.orpha.net/ORDO/Orphanet_158124
Huntington disease-like syndrome	Huntington disease-like syndrome	Orphanet	158266	http://www.orpha.net/ORDO/Orphanet_158266
Harrod syndrome	Harrod syndrome	Orphanet	2115	http://www.orpha.net/ORDO/Orphanet_2115
Rare genetic hematologic disease	Rare genetic hematologic disease	Orphanet	158300	http://www.orpha.net/ORDO/Orphanet_158300
Hip dysplasia, Beukes type	Hip dysplasia, Beukes type	Orphanet	2114	http://www.orpha.net/ORDO/Orphanet_2114
Short stature-craniofacial anomalies-genital hypoplasia syndrome	Short stature-craniofacial anomalies-genital hypoplasia syndrome	Orphanet	2994	http://www.orpha.net/ORDO/Orphanet_2994
Hartsfield syndrome	Hartsfield syndrome	Orphanet	2117	http://www.orpha.net/ORDO/Orphanet_2117
HEC syndrome	HEC syndrome	Orphanet	2119	http://www.orpha.net/ORDO/Orphanet_2119
Cavernous hemangiomas of face-supraumbilical midline raphe syndrome	Cavernous hemangiomas of face-supraumbilical midline raphe syndrome	Orphanet	2124	http://www.orpha.net/ORDO/Orphanet_2124
Diffuse neonatal hemangiomatosis	Diffuse neonatal hemangiomatosis	Orphanet	2123	http://www.orpha.net/ORDO/Orphanet_2123
Benign cephalic histiocytosis	Benign cephalic histiocytosis	Orphanet	157997	http://www.orpha.net/ORDO/Orphanet_157997
GMS syndrome	GMS syndrome	Orphanet	2090	http://www.orpha.net/ORDO/Orphanet_2090
Generalized eruptive histiocytosis	Generalized eruptive histiocytosis	Orphanet	157991	http://www.orpha.net/ORDO/Orphanet_157991
Multinodular goiter-cystic kidney-polydactyly syndrome	Multinodular goiter-cystic kidney-polydactyly syndrome	Orphanet	2091	http://www.orpha.net/ORDO/Orphanet_2091
Non-Langerhans cell histiocytosis	Non-Langerhans cell histiocytosis	Orphanet	157987	http://www.orpha.net/ORDO/Orphanet_157987
Glomerulonephritis-sparse hair-telangiectasis syndrome	Glomerulonephritis-sparse hair-telangiectasis syndrome	Orphanet	2087	http://www.orpha.net/ORDO/Orphanet_2087
Necrobiotic xanthogranuloma	Necrobiotic xanthogranuloma	Orphanet	158011	http://www.orpha.net/ORDO/Orphanet_158011
Papular xanthoma	Papular xanthoma	Orphanet	158008	http://www.orpha.net/ORDO/Orphanet_158008
Gordon syndrome	Gordon syndrome	Orphanet	376	http://www.orpha.net/ORDO/Orphanet_376
Xanthoma disseminatum	Xanthoma disseminatum	Orphanet	158003	http://www.orpha.net/ORDO/Orphanet_158003
Focal dermal hypoplasia	Focal dermal hypoplasia	Orphanet	2092	http://www.orpha.net/ORDO/Orphanet_2092
Juvenile xanthogranuloma	Juvenile xanthogranuloma	Orphanet	158000	http://www.orpha.net/ORDO/Orphanet_158000
Acromesomelic dysplasia, Grebe type	Acromesomelic dysplasia, Grebe type	Orphanet	2098	http://www.orpha.net/ORDO/Orphanet_2098
Hereditary progressive mucinous histiocytosis	Hereditary progressive mucinous histiocytosis	Orphanet	158025	http://www.orpha.net/ORDO/Orphanet_158025
Progressive nodular histiocytosis	Progressive nodular histiocytosis	Orphanet	158022	http://www.orpha.net/ORDO/Orphanet_158022
Greig cephalopolysyndactyly syndrome	Greig cephalopolysyndactyly syndrome	Orphanet	380	http://www.orpha.net/ORDO/Orphanet_380
Gorlin-Chaudhry-Moss syndrome	Gorlin-Chaudhry-Moss syndrome	Orphanet	2095	http://www.orpha.net/ORDO/Orphanet_2095
Indeterminate cell histiocytosis	Indeterminate cell histiocytosis	Orphanet	158019	http://www.orpha.net/ORDO/Orphanet_158019
Rosaï-Dorfman disease	Rosaï-Dorfman disease	Orphanet	158014	http://www.orpha.net/ORDO/Orphanet_158014
Grant syndrome	Grant syndrome	Orphanet	2097	http://www.orpha.net/ORDO/Orphanet_2097
Secondary hemophagocytic lymphohistiocytosis	Secondary hemophagocytic lymphohistiocytosis	Orphanet	158041	http://www.orpha.net/ORDO/Orphanet_158041
Grubben-de Cock-Borghgraef syndrome	Grubben-de Cock-Borghgraef syndrome	Orphanet	2101	http://www.orpha.net/ORDO/Orphanet_2101
Primary hemophagocytic lymphohistiocytosis	Primary hemophagocytic lymphohistiocytosis	Orphanet	158038	http://www.orpha.net/ORDO/Orphanet_158038
Dysmorphism-pectus carinatum-joint laxity syndrome	Dysmorphism-pectus carinatum-joint laxity syndrome	Orphanet	2104	http://www.orpha.net/ORDO/Orphanet_2104
Hemophagocytic syndrome	Hemophagocytic syndrome	Orphanet	158032	http://www.orpha.net/ORDO/Orphanet_158032
Sea-blue histiocytosis	Sea-blue histiocytosis	Orphanet	158029	http://www.orpha.net/ORDO/Orphanet_158029
Trigeminal autonomic cephalalgia	Trigeminal autonomic cephalalgia	Orphanet	157843	http://www.orpha.net/ORDO/Orphanet_157843
Gastrocutaneous syndrome	Gastrocutaneous syndrome	Orphanet	2069	http://www.orpha.net/ORDO/Orphanet_2069
Neuroferritinopathy	Neuroferritinopathy	Orphanet	157846	http://www.orpha.net/ORDO/Orphanet_157846
Craniorhiny	Craniorhiny	Orphanet	157832	http://www.orpha.net/ORDO/Orphanet_157832
GAPO syndrome	GAPO syndrome	Orphanet	2067	http://www.orpha.net/ORDO/Orphanet_2067
Paroxysmal hemicrania	Paroxysmal hemicrania	Orphanet	157835	http://www.orpha.net/ORDO/Orphanet_157835
Galloway-Mowat syndrome	Galloway-Mowat syndrome	Orphanet	2065	http://www.orpha.net/ORDO/Orphanet_2065
Genitopalatocardiac syndrome	Genitopalatocardiac syndrome	Orphanet	2075	http://www.orpha.net/ORDO/Orphanet_2075
Huntington disease-like 1	Huntington disease-like 1	Orphanet	157941	http://www.orpha.net/ORDO/Orphanet_157941
Gemignani syndrome	Gemignani syndrome	Orphanet	2074	http://www.orpha.net/ORDO/Orphanet_2074
Pantothenate kinase-associated neurodegeneration	Pantothenate kinase-associated neurodegeneration	Orphanet	157850	http://www.orpha.net/ORDO/Orphanet_157850
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	Orphanet	2072	http://www.orpha.net/ORDO/Orphanet_2072
HARP syndrome	HARP syndrome	Orphanet	157855	http://www.orpha.net/ORDO/Orphanet_157855
ANE syndrome	ANE syndrome	Orphanet	157954	http://www.orpha.net/ORDO/Orphanet_157954
Oculoauricular syndrome, Schorderet type	Oculoauricular syndrome, Schorderet type	Orphanet	157962	http://www.orpha.net/ORDO/Orphanet_157962
Huntington disease-like 3	Huntington disease-like 3	Orphanet	157946	http://www.orpha.net/ORDO/Orphanet_157946
Geroderma osteodysplastica	Geroderma osteodysplastica	Orphanet	2078	http://www.orpha.net/ORDO/Orphanet_2078
Combined immunodeficiency with granulomatosis	Combined immunodeficiency with granulomatosis	Orphanet	157949	http://www.orpha.net/ORDO/Orphanet_157949
German syndrome	German syndrome	Orphanet	2077	http://www.orpha.net/ORDO/Orphanet_2077
Congenital muscular dystrophy due to LMNA mutation	Congenital muscular dystrophy due to LMNA mutation	Orphanet	157973	http://www.orpha.net/ORDO/Orphanet_157973
Glaucoma-sleep apnea syndrome	Glaucoma-sleep apnea syndrome	Orphanet	2085	http://www.orpha.net/ORDO/Orphanet_2085
NON RARE IN EUROPE: Bladder cancer	NON RARE IN EUROPE: Bladder cancer	Orphanet	157980	http://www.orpha.net/ORDO/Orphanet_157980
Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome	Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome	Orphanet	2084	http://www.orpha.net/ORDO/Orphanet_2084
SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	Orphanet	157965	http://www.orpha.net/ORDO/Orphanet_157965
Prominent glabella-microcephaly-hypogenitalism syndrome	Prominent glabella-microcephaly-hypogenitalism syndrome	Orphanet	2083	http://www.orpha.net/ORDO/Orphanet_2083
Cerebral gigantism-jaw cysts syndrome	Cerebral gigantism-jaw cysts syndrome	Orphanet	2081	http://www.orpha.net/ORDO/Orphanet_2081
Fraser-like syndrome	Fraser-like syndrome	Orphanet	2051	http://www.orpha.net/ORDO/Orphanet_2051
Growth deficiency-brachydactyly-dysmorphism syndrome	Growth deficiency-brachydactyly-dysmorphism syndrome	Orphanet	2055	http://www.orpha.net/ORDO/Orphanet_2055
Frontofacionasal dysplasia	Frontofacionasal dysplasia	Orphanet	1791	http://www.orpha.net/ORDO/Orphanet_1791
Frontometaphyseal dysplasia	Frontometaphyseal dysplasia	Orphanet	1826	http://www.orpha.net/ORDO/Orphanet_1826
Flynn-Aird syndrome	Flynn-Aird syndrome	Orphanet	2047	http://www.orpha.net/ORDO/Orphanet_2047
Foix-Chavany-Marie syndrome	Foix-Chavany-Marie syndrome	Orphanet	2048	http://www.orpha.net/ORDO/Orphanet_2048
Cole-Carpenter syndrome	Cole-Carpenter syndrome	Orphanet	2050	http://www.orpha.net/ORDO/Orphanet_2050
Fukuda-Miyanomae-Nakata syndrome	Fukuda-Miyanomae-Nakata syndrome	Orphanet	2060	http://www.orpha.net/ORDO/Orphanet_2060
Splenogonadal fusion-limb defects-micrognathia syndrome	Splenogonadal fusion-limb defects-micrognathia syndrome	Orphanet	2063	http://www.orpha.net/ORDO/Orphanet_2063
Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome	Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome	Orphanet	2064	http://www.orpha.net/ORDO/Orphanet_2064
Frontonasal dysplasia	Frontonasal dysplasia	Orphanet	250	http://www.orpha.net/ORDO/Orphanet_250
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome	Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome	Orphanet	2057	http://www.orpha.net/ORDO/Orphanet_2057
Fryns syndrome	Fryns syndrome	Orphanet	2059	http://www.orpha.net/ORDO/Orphanet_2059
Gingival fibromatosis-hypertrichosis syndrome	Gingival fibromatosis-hypertrichosis syndrome	Orphanet	2026	http://www.orpha.net/ORDO/Orphanet_2026
Gingival fibromatosis-facial dysmorphism syndrome	Gingival fibromatosis-facial dysmorphism syndrome	Orphanet	2025	http://www.orpha.net/ORDO/Orphanet_2025
Juvenile hyaline fibromatosis	Juvenile hyaline fibromatosis	Orphanet	2028	http://www.orpha.net/ORDO/Orphanet_2028
Gingival fibromatosis-progressive deafness syndrome	Gingival fibromatosis-progressive deafness syndrome	Orphanet	2027	http://www.orpha.net/ORDO/Orphanet_2027
Fibrochondrogenesis	Fibrochondrogenesis	Orphanet	2021	http://www.orpha.net/ORDO/Orphanet_2021
Femur-fibula-ulna complex	Femur-fibula-ulna complex	Orphanet	2019	http://www.orpha.net/ORDO/Orphanet_2019
Hereditary gingival fibromatosis	Hereditary gingival fibromatosis	Orphanet	2024	http://www.orpha.net/ORDO/Orphanet_2024
Endocardial fibroelastosis	Endocardial fibroelastosis	Orphanet	2022	http://www.orpha.net/ORDO/Orphanet_2022
Paraplegia-intellectual disability-hyperkeratosis syndrome	Paraplegia-intellectual disability-hyperkeratosis syndrome	Orphanet	2824	http://www.orpha.net/ORDO/Orphanet_2824
FLOTCH syndrome	FLOTCH syndrome	Orphanet	2045	http://www.orpha.net/ORDO/Orphanet_2045
Floating-Harbor syndrome	Floating-Harbor syndrome	Orphanet	2044	http://www.orpha.net/ORDO/Orphanet_2044
Hepatic fibrosis-renal cysts-intellectual disability syndrome	Hepatic fibrosis-renal cysts-intellectual disability syndrome	Orphanet	2031	http://www.orpha.net/ORDO/Orphanet_2031
Multiple non-ossifying fibromatosis	Multiple non-ossifying fibromatosis	Orphanet	2029	http://www.orpha.net/ORDO/Orphanet_2029
Scalp-ear-nipple syndrome	Scalp-ear-nipple syndrome	Orphanet	2036	http://www.orpha.net/ORDO/Orphanet_2036
Plaque-form urticaria pigmentosa	Plaque-form urticaria pigmentosa	Orphanet	158769	http://www.orpha.net/ORDO/Orphanet_158769
Median cleft lip/mandibule	Median cleft lip/mandibule	Orphanet	2006	http://www.orpha.net/ORDO/Orphanet_2006
Typical urticaria pigmentosa	Typical urticaria pigmentosa	Orphanet	158766	http://www.orpha.net/ORDO/Orphanet_158766
Alar cartilages hypoplasia-coloboma-telecanthus syndrome	Alar cartilages hypoplasia-coloboma-telecanthus syndrome	Orphanet	2007	http://www.orpha.net/ORDO/Orphanet_2007
Cleft lip/palate-deafness-sacral lipoma syndrome	Cleft lip/palate-deafness-sacral lipoma syndrome	Orphanet	2003	http://www.orpha.net/ORDO/Orphanet_2003
Lethal acantholytic epidermolysis bullosa	Lethal acantholytic epidermolysis bullosa	Orphanet	158687	http://www.orpha.net/ORDO/Orphanet_158687
Epidermolysis bullosa simplex with pyloric atresia	Epidermolysis bullosa simplex with pyloric atresia	Orphanet	158684	http://www.orpha.net/ORDO/Orphanet_158684
Laryngotracheoesophageal cleft	Laryngotracheoesophageal cleft	Orphanet	2004	http://www.orpha.net/ORDO/Orphanet_2004
Cleft lip/palate-intestinal malrotation-cardiopathy syndrome	Cleft lip/palate-intestinal malrotation-cardiopathy syndrome	Orphanet	2001	http://www.orpha.net/ORDO/Orphanet_2001
Epidermolysis bullosa simplex with circinate migratory erythema	Epidermolysis bullosa simplex with circinate migratory erythema	Orphanet	158681	http://www.orpha.net/ORDO/Orphanet_158681
Dominant dystrophic epidermolysis bullosa, nails only	Dominant dystrophic epidermolysis bullosa, nails only	Orphanet	158676	http://www.orpha.net/ORDO/Orphanet_158676
Acral dystrophic epidermolysis bullosa	Acral dystrophic epidermolysis bullosa	Orphanet	158673	http://www.orpha.net/ORDO/Orphanet_158673
Epidermolysis bullosa simplex due to plakophilin deficiency	Epidermolysis bullosa simplex due to plakophilin deficiency	Orphanet	158668	http://www.orpha.net/ORDO/Orphanet_158668
Cleft palate-lateral synechia syndrome	Cleft palate-lateral synechia syndrome	Orphanet	2016	http://www.orpha.net/ORDO/Orphanet_2016
Sternal cleft	Sternal cleft	Orphanet	2017	http://www.orpha.net/ORDO/Orphanet_2017
Cleft palate-large ears-small head syndrome	Cleft palate-large ears-small head syndrome	Orphanet	2013	http://www.orpha.net/ORDO/Orphanet_2013
Cleft palate-stapes fixation-oligodontia syndrome	Cleft palate-stapes fixation-oligodontia syndrome	Orphanet	2010	http://www.orpha.net/ORDO/Orphanet_2010
Isolated bone marrow mastocytosis	Isolated bone marrow mastocytosis	Orphanet	158778	http://www.orpha.net/ORDO/Orphanet_158778
Smoldering systemic mastocytosis	Smoldering systemic mastocytosis	Orphanet	158775	http://www.orpha.net/ORDO/Orphanet_158775
Nodular urticaria pigmentosa	Nodular urticaria pigmentosa	Orphanet	158772	http://www.orpha.net/ORDO/Orphanet_158772
Acrocardiofacial syndrome	Acrocardiofacial syndrome	Orphanet	2008	http://www.orpha.net/ORDO/Orphanet_2008
Femoral agenesis/hypoplasia	Femoral agenesis/hypoplasia	Orphanet	1987	http://www.orpha.net/ORDO/Orphanet_1987
Gollop-Wolfgang complex	Gollop-Wolfgang complex	Orphanet	1986	http://www.orpha.net/ORDO/Orphanet_1986
Fechtner syndrome	Fechtner syndrome	Orphanet	1984	http://www.orpha.net/ORDO/Orphanet_1984
Bilateral striopallidodentate calcinosis	Bilateral striopallidodentate calcinosis	Orphanet	1980	http://www.orpha.net/ORDO/Orphanet_1980
Suprabasal epidermolysis bullosa simplex	Suprabasal epidermolysis bullosa simplex	Orphanet	158661	http://www.orpha.net/ORDO/Orphanet_158661
Basal epidermolysis bullosa simplex	Basal epidermolysis bullosa simplex	Orphanet	158665	http://www.orpha.net/ORDO/Orphanet_158665
Blepharo-cheilo-odontic syndrome	Blepharo-cheilo-odontic syndrome	Orphanet	1997	http://www.orpha.net/ORDO/Orphanet_1997
Cleft lip-retinopathy syndrome	Cleft lip-retinopathy syndrome	Orphanet	1995	http://www.orpha.net/ORDO/Orphanet_1995
Pai syndrome	Pai syndrome	Orphanet	1993	http://www.orpha.net/ORDO/Orphanet_1993
Femoral-facial syndrome	Femoral-facial syndrome	Orphanet	1988	http://www.orpha.net/ORDO/Orphanet_1988
Familial partial lipodystrophy, Dunnigan type	Familial partial lipodystrophy, Dunnigan type	Orphanet	2348	http://www.orpha.net/ORDO/Orphanet_2348
Mayer-Rokitansky-Küster-Hauser syndrome type 1	Mayer-Rokitansky-Küster-Hauser syndrome type 1	Orphanet	247775	http://www.orpha.net/ORDO/Orphanet_247775
Kousseff syndrome	Kousseff syndrome	Orphanet	2351	http://www.orpha.net/ORDO/Orphanet_2351
Müllerian aplasia and hyperandrogenism	Müllerian aplasia and hyperandrogenism	Orphanet	247768	http://www.orpha.net/ORDO/Orphanet_247768
Schilbach-Rott syndrome	Schilbach-Rott syndrome	Orphanet	2353	http://www.orpha.net/ORDO/Orphanet_2353
FTH1-related iron overload	FTH1-related iron overload	Orphanet	247790	http://www.orpha.net/ORDO/Orphanet_247790
MUTYH-related attenuated familial adenomatous polyposis	MUTYH-related attenuated familial adenomatous polyposis	Orphanet	247798	http://www.orpha.net/ORDO/Orphanet_247798
Kumar-Levick syndrome	Kumar-Levick syndrome	Orphanet	2355	http://www.orpha.net/ORDO/Orphanet_2355
Juvenile cataract-microcornea-renal glucosuria syndrome	Juvenile cataract-microcornea-renal glucosuria syndrome	Orphanet	247794	http://www.orpha.net/ORDO/Orphanet_247794
Autosomal recessive ataxia due to PEX10 deficiency	Autosomal recessive ataxia due to PEX10 deficiency	Orphanet	247815	http://www.orpha.net/ORDO/Orphanet_247815
APC-related attenuated familial adenomatous polyposis	APC-related attenuated familial adenomatous polyposis	Orphanet	247806	http://www.orpha.net/ORDO/Orphanet_247806
Lacrimoauriculodentodigital syndrome	Lacrimoauriculodentodigital syndrome	Orphanet	2363	http://www.orpha.net/ORDO/Orphanet_2363
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Orphanet	247691	http://www.orpha.net/ORDO/Orphanet_247691
Keratosis follicularis spinulosa decalvans	Keratosis follicularis spinulosa decalvans	Orphanet	2340	http://www.orpha.net/ORDO/Orphanet_2340
Odontohypophosphatasia	Odontohypophosphatasia	Orphanet	247685	http://www.orpha.net/ORDO/Orphanet_247685
Haim-Munk syndrome	Haim-Munk syndrome	Orphanet	2342	http://www.orpha.net/ORDO/Orphanet_2342
Multiple endocrine neoplasia type 2B	Multiple endocrine neoplasia type 2B	Orphanet	247709	http://www.orpha.net/ORDO/Orphanet_247709
Multiple endocrine neoplasia type 2A	Multiple endocrine neoplasia type 2A	Orphanet	247698	http://www.orpha.net/ORDO/Orphanet_247698
Idiopathic eosinophilic myositis	Idiopathic eosinophilic myositis	Orphanet	247724	http://www.orpha.net/ORDO/Orphanet_247724
Inflammatory myopathy with abundant macrophages	Inflammatory myopathy with abundant macrophages	Orphanet	247718	http://www.orpha.net/ORDO/Orphanet_247718
X-linked cerebellar ataxia	X-linked cerebellar ataxia	Orphanet	247765	http://www.orpha.net/ORDO/Orphanet_247765
Kniest dysplasia	Kniest dysplasia	Orphanet	485	http://www.orpha.net/ORDO/Orphanet_485
Lipoblastoma	Lipoblastoma	Orphanet	247762	http://www.orpha.net/ORDO/Orphanet_247762
Lethal Kniest-like dysplasia	Lethal Kniest-like dysplasia	Orphanet	2347	http://www.orpha.net/ORDO/Orphanet_2347
Citrullinemia type II	Citrullinemia type II	Orphanet	247585	http://www.orpha.net/ORDO/Orphanet_247585
Kenny-Caffey syndrome	Kenny-Caffey syndrome	Orphanet	2333	http://www.orpha.net/ORDO/Orphanet_2333
Neonatal intrahepatic cholestasis due to citrin deficiency	Neonatal intrahepatic cholestasis due to citrin deficiency	Orphanet	247598	http://www.orpha.net/ORDO/Orphanet_247598
KBG syndrome	KBG syndrome	Orphanet	2332	http://www.orpha.net/ORDO/Orphanet_2332
Juvenile primary lateral sclerosis	Juvenile primary lateral sclerosis	Orphanet	247604	http://www.orpha.net/ORDO/Orphanet_247604
Perinatal lethal hypophosphatasia	Perinatal lethal hypophosphatasia	Orphanet	247623	http://www.orpha.net/ORDO/Orphanet_247623
NON RARE IN EUROPE: Isolated keratoconus	NON RARE IN EUROPE: Isolated keratoconus	Orphanet	2335	http://www.orpha.net/ORDO/Orphanet_2335
Prenatal benign hypophosphatasia	Prenatal benign hypophosphatasia	Orphanet	247638	http://www.orpha.net/ORDO/Orphanet_247638
Isolated punctate palmoplantar keratoderma	Isolated punctate palmoplantar keratoderma	Orphanet	2338	http://www.orpha.net/ORDO/Orphanet_2338
Non-epidermolytic palmoplantar keratoderma	Non-epidermolytic palmoplantar keratoderma	Orphanet	2337	http://www.orpha.net/ORDO/Orphanet_2337
Infantile hypophosphatasia	Infantile hypophosphatasia	Orphanet	247651	http://www.orpha.net/ORDO/Orphanet_247651
Childhood-onset hypophosphatasia	Childhood-onset hypophosphatasia	Orphanet	247667	http://www.orpha.net/ORDO/Orphanet_247667
Keratosis follicularis-dwarfism-cerebral atrophy syndrome	Keratosis follicularis-dwarfism-cerebral atrophy syndrome	Orphanet	2339	http://www.orpha.net/ORDO/Orphanet_2339
Adult hypophosphatasia	Adult hypophosphatasia	Orphanet	247676	http://www.orpha.net/ORDO/Orphanet_247676
Keratoderma hereditarium mutilans	Keratoderma hereditarium mutilans	Orphanet	494	http://www.orpha.net/ORDO/Orphanet_494
Kabuki syndrome	Kabuki syndrome	Orphanet	2322	http://www.orpha.net/ORDO/Orphanet_2322
Autosomal recessive secondary polycythemia not associated with VHL gene	Autosomal recessive secondary polycythemia not associated with VHL gene	Orphanet	247378	http://www.orpha.net/ORDO/Orphanet_247378
Jung syndrome	Jung syndrome	Orphanet	2321	http://www.orpha.net/ORDO/Orphanet_2321
Osteopenia-intellectual disability-sparse hair syndrome	Osteopenia-intellectual disability-sparse hair syndrome	Orphanet	2324	http://www.orpha.net/ORDO/Orphanet_2324
Autosomal dominant secondary polycythemia	Autosomal dominant secondary polycythemia	Orphanet	247511	http://www.orpha.net/ORDO/Orphanet_247511
Sanjad-Sakati syndrome	Sanjad-Sakati syndrome	Orphanet	2323	http://www.orpha.net/ORDO/Orphanet_2323
Primary ciliary dyskinesia-retinitis pigmentosa syndrome	Primary ciliary dyskinesia-retinitis pigmentosa syndrome	Orphanet	247522	http://www.orpha.net/ORDO/Orphanet_247522
Citrullinemia type I	Citrullinemia type I	Orphanet	247525	http://www.orpha.net/ORDO/Orphanet_247525
Acute neonatal citrullinemia type I	Acute neonatal citrullinemia type I	Orphanet	247546	http://www.orpha.net/ORDO/Orphanet_247546
Epidermolysis bullosa simplex with anodontia/hypodontia	Epidermolysis bullosa simplex with anodontia/hypodontia	Orphanet	2325	http://www.orpha.net/ORDO/Orphanet_2325
Adult-onset citrullinemia type I	Adult-onset citrullinemia type I	Orphanet	247573	http://www.orpha.net/ORDO/Orphanet_247573
Karsch-Neugebauer syndrome	Karsch-Neugebauer syndrome	Orphanet	2329	http://www.orpha.net/ORDO/Orphanet_2329
Citrin deficiency	Citrin deficiency	Orphanet	247582	http://www.orpha.net/ORDO/Orphanet_247582
Kapur-Toriello syndrome	Kapur-Toriello syndrome	Orphanet	2328	http://www.orpha.net/ORDO/Orphanet_2328
Rare thrombotic disorder due to an acquired platelet anomaly	Rare thrombotic disorder due to an acquired platelet anomaly	Orphanet	248404	http://www.orpha.net/ORDO/Orphanet_248404
Lowe-Kohn-Cohen syndrome	Lowe-Kohn-Cohen syndrome	Orphanet	2408	http://www.orpha.net/ORDO/Orphanet_2408
Rare thrombotic disorder due to a constitutional platelet anomaly	Rare thrombotic disorder due to a constitutional platelet anomaly	Orphanet	248401	http://www.orpha.net/ORDO/Orphanet_248401
Lowry-MacLean syndrome	Lowry-MacLean syndrome	Orphanet	2409	http://www.orpha.net/ORDO/Orphanet_2409
Thickened earlobes-conductive deafness syndrome	Thickened earlobes-conductive deafness syndrome	Orphanet	2405	http://www.orpha.net/ORDO/Orphanet_2405
Rare thrombotic disorder due to a platelet anomaly	Rare thrombotic disorder due to a platelet anomaly	Orphanet	248368	http://www.orpha.net/ORDO/Orphanet_248368
Rare thrombotic disorder due to an acquired coagulation factors defect	Rare thrombotic disorder due to an acquired coagulation factors defect	Orphanet	248365	http://www.orpha.net/ORDO/Orphanet_248365
LOC syndrome	LOC syndrome	Orphanet	2407	http://www.orpha.net/ORDO/Orphanet_2407
Genetic polycythemia	Genetic polycythemia	Orphanet	250165	http://www.orpha.net/ORDO/Orphanet_250165
Dislocation of the hip-dysmorphism syndrome	Dislocation of the hip-dysmorphism syndrome	Orphanet	2412	http://www.orpha.net/ORDO/Orphanet_2412
Cystic fibrosis-gastritis-megaloblastic anemia syndrome	Cystic fibrosis-gastritis-megaloblastic anemia syndrome	Orphanet	2575	http://www.orpha.net/ORDO/Orphanet_2575
Familial hypodysfibrinogenemia	Familial hypodysfibrinogenemia	Orphanet	248408	http://www.orpha.net/ORDO/Orphanet_248408
Hypergonadotropic hypogonadism-cataract syndrome	Hypergonadotropic hypogonadism-cataract syndrome	Orphanet	2410	http://www.orpha.net/ORDO/Orphanet_2410
Rare hemorrhagic disorder due to a platelet anomaly	Rare hemorrhagic disorder due to a platelet anomaly	Orphanet	248326	http://www.orpha.net/ORDO/Orphanet_248326
Nasopalpebral lipoma-coloboma syndrome	Nasopalpebral lipoma-coloboma syndrome	Orphanet	2399	http://www.orpha.net/ORDO/Orphanet_2399
Rare hemorrhagic disorder due to a coagulation factors defect	Rare hemorrhagic disorder due to a coagulation factors defect	Orphanet	248315	http://www.orpha.net/ORDO/Orphanet_248315
Peripheral motor neuropathy-dysautonomia syndrome	Peripheral motor neuropathy-dysautonomia syndrome	Orphanet	2400	http://www.orpha.net/ORDO/Orphanet_2400
Rare hemorrhagic disorder	Rare hemorrhagic disorder	Orphanet	248308	http://www.orpha.net/ORDO/Orphanet_248308
Encephalocraniocutaneous lipomatosis	Encephalocraniocutaneous lipomatosis	Orphanet	2396	http://www.orpha.net/ORDO/Orphanet_2396
Rare thrombotic disorder due to a constitutional coagulation factors defect	Rare thrombotic disorder due to a constitutional coagulation factors defect	Orphanet	248361	http://www.orpha.net/ORDO/Orphanet_248361
Rare thrombotic disorder due to a coagulation factors defect	Rare thrombotic disorder due to a coagulation factors defect	Orphanet	248358	http://www.orpha.net/ORDO/Orphanet_248358
Rare hemorrhagic disorder due to an acquired platelet anomaly	Rare hemorrhagic disorder due to an acquired platelet anomaly	Orphanet	248347	http://www.orpha.net/ORDO/Orphanet_248347
Isolated delta-storage pool disease	Isolated delta-storage pool disease	Orphanet	248340	http://www.orpha.net/ORDO/Orphanet_248340
Choreoacanthocytosis	Choreoacanthocytosis	Orphanet	2388	http://www.orpha.net/ORDO/Orphanet_2388
Juvenile Huntington disease	Juvenile Huntington disease	Orphanet	248111	http://www.orpha.net/ORDO/Orphanet_248111
Leukonychia totalis	Leukonychia totalis	Orphanet	2387	http://www.orpha.net/ORDO/Orphanet_2387
Leukoencephalopathy-palmoplantar keratoderma syndrome	Leukoencephalopathy-palmoplantar keratoderma syndrome	Orphanet	2386	http://www.orpha.net/ORDO/Orphanet_2386
Primary hypertrophic osteoarthropathy	Primary hypertrophic osteoarthropathy	Orphanet	248095	http://www.orpha.net/ORDO/Orphanet_248095
Early-onset parkinsonism-intellectual disability syndrome	Early-onset parkinsonism-intellectual disability syndrome	Orphanet	2379	http://www.orpha.net/ORDO/Orphanet_2379
Rare acquired deficiency anemia	Rare acquired deficiency anemia	Orphanet	248302	http://www.orpha.net/ORDO/Orphanet_248302
Congenitally short costocoracoid ligament	Congenitally short costocoracoid ligament	Orphanet	2391	http://www.orpha.net/ORDO/Orphanet_2391
Rare deficiency anemia	Rare deficiency anemia	Orphanet	248293	http://www.orpha.net/ORDO/Orphanet_248293
Lichtenstein syndrome	Lichtenstein syndrome	Orphanet	2390	http://www.orpha.net/ORDO/Orphanet_2390
Constitutional deficiency anemia	Constitutional deficiency anemia	Orphanet	248296	http://www.orpha.net/ORDO/Orphanet_248296
Lewis-Pashayan syndrome	Lewis-Pashayan syndrome	Orphanet	2389	http://www.orpha.net/ORDO/Orphanet_2389
Occult macular dystrophy	Occult macular dystrophy	Orphanet	247834	http://www.orpha.net/ORDO/Orphanet_247834
Lethal Larsen-like syndrome	Lethal Larsen-like syndrome	Orphanet	2371	http://www.orpha.net/ORDO/Orphanet_2371
Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies	Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies	Orphanet	247839	http://www.orpha.net/ORDO/Orphanet_247839
Limb body wall complex	Limb body wall complex	Orphanet	2369	http://www.orpha.net/ORDO/Orphanet_2369
Ectodermal dysplasia-syndactyly syndrome	Ectodermal dysplasia-syndactyly syndrome	Orphanet	247820	http://www.orpha.net/ORDO/Orphanet_247820
Ectodermal dysplasia-cutaneous syndactyly syndrome	Ectodermal dysplasia-cutaneous syndactyly syndrome	Orphanet	247827	http://www.orpha.net/ORDO/Orphanet_247827
Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies	Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies	Orphanet	247861	http://www.orpha.net/ORDO/Orphanet_247861
Laurin-Sandrow syndrome	Laurin-Sandrow syndrome	Orphanet	2378	http://www.orpha.net/ORDO/Orphanet_2378
NLRP12-associated hereditary periodic fever syndrome	NLRP12-associated hereditary periodic fever syndrome	Orphanet	247868	http://www.orpha.net/ORDO/Orphanet_247868
Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies	Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies	Orphanet	247846	http://www.orpha.net/ORDO/Orphanet_247846
Laryngeal abductor paralysis-intellectual disability syndrome	Laryngeal abductor paralysis-intellectual disability syndrome	Orphanet	2375	http://www.orpha.net/ORDO/Orphanet_2375
Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies	Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies	Orphanet	247854	http://www.orpha.net/ORDO/Orphanet_247854
Familial supernumerary nipples	Familial supernumerary nipples	Orphanet	2456	http://www.orpha.net/ORDO/Orphanet_2456
Mandibuloacral dysplasia	Mandibuloacral dysplasia	Orphanet	2457	http://www.orpha.net/ORDO/Orphanet_2457
Mucocutaneous venous malformations	Mucocutaneous venous malformations	Orphanet	2451	http://www.orpha.net/ORDO/Orphanet_2451
Malpuech syndrome	Malpuech syndrome	Orphanet	2453	http://www.orpha.net/ORDO/Orphanet_2453
Patterson-Stevenson-Fontaine syndrome	Patterson-Stevenson-Fontaine syndrome	Orphanet	2439	http://www.orpha.net/ORDO/Orphanet_2439
Dominant hypophosphatemia with nephrolithiasis or osteoporosis	Dominant hypophosphatemia with nephrolithiasis or osteoporosis	Orphanet	244305	http://www.orpha.net/ORDO/Orphanet_244305
Biliary atresia with splenic malformation syndrome	Biliary atresia with splenic malformation syndrome	Orphanet	244283	http://www.orpha.net/ORDO/Orphanet_244283
Isolated split hand-split foot malformation	Isolated split hand-split foot malformation	Orphanet	2440	http://www.orpha.net/ORDO/Orphanet_2440
RFT1-CDG	RFT1-CDG	Orphanet	244310	http://www.orpha.net/ORDO/Orphanet_244310
HELLP syndrome	HELLP syndrome	Orphanet	244242	http://www.orpha.net/ORDO/Orphanet_244242
Ollier disease	Ollier disease	Orphanet	296	http://www.orpha.net/ORDO/Orphanet_296
Czeizel-Losonci syndrome	Czeizel-Losonci syndrome	Orphanet	2437	http://www.orpha.net/ORDO/Orphanet_2437
Hand-foot-genital syndrome	Hand-foot-genital syndrome	Orphanet	2438	http://www.orpha.net/ORDO/Orphanet_2438
Dimethylglycine dehydrogenase deficiency	Dimethylglycine dehydrogenase deficiency	Orphanet	243343	http://www.orpha.net/ORDO/Orphanet_243343
Epstein syndrome	Epstein syndrome	Orphanet	1019	http://www.orpha.net/ORDO/Orphanet_1019
Acute fatty liver of pregnancy	Acute fatty liver of pregnancy	Orphanet	243367	http://www.orpha.net/ORDO/Orphanet_243367
NON RARE IN EUROPE: Diabetes mellitus type 1	NON RARE IN EUROPE: Diabetes mellitus type 1	Orphanet	243377	http://www.orpha.net/ORDO/Orphanet_243377
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome	Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome	Orphanet	2435	http://www.orpha.net/ORDO/Orphanet_2435
NON RARE IN EUROPE: Essential hypertension	NON RARE IN EUROPE: Essential hypertension	Orphanet	243761	http://www.orpha.net/ORDO/Orphanet_243761
Macrocephaly-spastic paraplegia-dysmorphism syndrome	Macrocephaly-spastic paraplegia-dysmorphism syndrome	Orphanet	2429	http://www.orpha.net/ORDO/Orphanet_2429
Macrosomia-microphthalmia-cleft palate syndrome	Macrosomia-microphthalmia-cleft palate syndrome	Orphanet	2432	http://www.orpha.net/ORDO/Orphanet_2432
Lymphedema-ptosis syndrome	Lymphedema-ptosis syndrome	Orphanet	2419	http://www.orpha.net/ORDO/Orphanet_2419
Upper limb defect-eye and ear abnormalities syndrome	Upper limb defect-eye and ear abnormalities syndrome	Orphanet	2489	http://www.orpha.net/ORDO/Orphanet_2489
Generalized pustular psoriasis	Generalized pustular psoriasis	Orphanet	247353	http://www.orpha.net/ORDO/Orphanet_247353
Hyperphosphatasia-intellectual disability syndrome	Hyperphosphatasia-intellectual disability syndrome	Orphanet	247262	http://www.orpha.net/ORDO/Orphanet_247262
Lower limb malformation-hypospadias syndrome	Lower limb malformation-hypospadias syndrome	Orphanet	2487	http://www.orpha.net/ORDO/Orphanet_2487
Inhalational anthrax	Inhalational anthrax	Orphanet	247257	http://www.orpha.net/ORDO/Orphanet_247257
Superficial siderosis	Superficial siderosis	Orphanet	247245	http://www.orpha.net/ORDO/Orphanet_247245
Acquired ataxia	Acquired ataxia	Orphanet	247242	http://www.orpha.net/ORDO/Orphanet_247242
Melorheostosis	Melorheostosis	Orphanet	2485	http://www.orpha.net/ORDO/Orphanet_2485
Transverse limb deficiency-hemangioma syndrome	Transverse limb deficiency-hemangioma syndrome	Orphanet	2486	http://www.orpha.net/ORDO/Orphanet_2486
Non-hereditary degenerative ataxia	Non-hereditary degenerative ataxia	Orphanet	247239	http://www.orpha.net/ORDO/Orphanet_247239
Sporadic adult-onset ataxia of unknown etiology	Sporadic adult-onset ataxia of unknown etiology	Orphanet	247234	http://www.orpha.net/ORDO/Orphanet_247234
Melkersson-Rosenthal syndrome	Melkersson-Rosenthal syndrome	Orphanet	2483	http://www.orpha.net/ORDO/Orphanet_2483
Collecting duct carcinoma	Collecting duct carcinoma	Orphanet	247203	http://www.orpha.net/ORDO/Orphanet_247203
Melnick-Needles syndrome	Melnick-Needles syndrome	Orphanet	2484	http://www.orpha.net/ORDO/Orphanet_2484
Progressive cerebello-cerebral atrophy	Progressive cerebello-cerebral atrophy	Orphanet	247198	http://www.orpha.net/ORDO/Orphanet_247198
Neurocutaneous melanocytosis	Neurocutaneous melanocytosis	Orphanet	2481	http://www.orpha.net/ORDO/Orphanet_2481
Melhem-Fahl syndrome	Melhem-Fahl syndrome	Orphanet	2482	http://www.orpha.net/ORDO/Orphanet_2482
Infantile mercury poisoning	Infantile mercury poisoning	Orphanet	247165	http://www.orpha.net/ORDO/Orphanet_247165
Megalencephaly	Megalencephaly	Orphanet	2477	http://www.orpha.net/ORDO/Orphanet_2477
Megalocornea-intellectual disability syndrome	Megalocornea-intellectual disability syndrome	Orphanet	2479	http://www.orpha.net/ORDO/Orphanet_2479
White forelock with malformations	White forelock with malformations	Orphanet	2475	http://www.orpha.net/ORDO/Orphanet_2475
Dysraphism-cleft lip/palate-limb reduction defects syndrome	Dysraphism-cleft lip/palate-limb reduction defects syndrome	Orphanet	2476	http://www.orpha.net/ORDO/Orphanet_2476
McKusick-Kaufman syndrome	McKusick-Kaufman syndrome	Orphanet	2473	http://www.orpha.net/ORDO/Orphanet_2473
McDonough syndrome	McDonough syndrome	Orphanet	2471	http://www.orpha.net/ORDO/Orphanet_2471
Matthew-Wood syndrome	Matthew-Wood syndrome	Orphanet	2470	http://www.orpha.net/ORDO/Orphanet_2470
Marshall-Smith syndrome	Marshall-Smith syndrome	Orphanet	561	http://www.orpha.net/ORDO/Orphanet_561
Marfanoid syndrome, De Silva type	Marfanoid syndrome, De Silva type	Orphanet	2464	http://www.orpha.net/ORDO/Orphanet_2464
Marinesco-Sjögren syndrome	Marinesco-Sjögren syndrome	Orphanet	559	http://www.orpha.net/ORDO/Orphanet_559
Marfanoid habitus-autosomal recessive intellectual disability syndrome	Marfanoid habitus-autosomal recessive intellectual disability syndrome	Orphanet	2463	http://www.orpha.net/ORDO/Orphanet_2463
Shprintzen-Goldberg syndrome	Shprintzen-Goldberg syndrome	Orphanet	2462	http://www.orpha.net/ORDO/Orphanet_2462
Marden-Walker syndrome	Marden-Walker syndrome	Orphanet	2461	http://www.orpha.net/ORDO/Orphanet_2461
Anaplastic oligodendroglioma	Anaplastic oligodendroglioma	Orphanet	251630	http://www.orpha.net/ORDO/Orphanet_251630
Microcephaly-glomerulonephritis-marfanoid habitus syndrome	Microcephaly-glomerulonephritis-marfanoid habitus syndrome	Orphanet	2172	http://www.orpha.net/ORDO/Orphanet_2172
Ependymoma	Ependymoma	Orphanet	251636	http://www.orpha.net/ORDO/Orphanet_251636
Hunter-Carpenter-McDonald syndrome	Hunter-Carpenter-McDonald syndrome	Orphanet	2174	http://www.orpha.net/ORDO/Orphanet_2174
Subependymoma	Subependymoma	Orphanet	251639	http://www.orpha.net/ORDO/Orphanet_251639
Infantile systemic hyalinosis	Infantile systemic hyalinosis	Orphanet	2176	http://www.orpha.net/ORDO/Orphanet_2176
Myxopapillary ependymoma	Myxopapillary ependymoma	Orphanet	251643	http://www.orpha.net/ORDO/Orphanet_251643
Anaplastic ependymoma	Anaplastic ependymoma	Orphanet	251646	http://www.orpha.net/ORDO/Orphanet_251646
Oligoastrocytic tumor	Oligoastrocytic tumor	Orphanet	251651	http://www.orpha.net/ORDO/Orphanet_251651
Hydrocephaly-tall stature-joint laxity syndrome	Hydrocephaly-tall stature-joint laxity syndrome	Orphanet	2181	http://www.orpha.net/ORDO/Orphanet_2181
Oligoastrocytoma	Oligoastrocytoma	Orphanet	251656	http://www.orpha.net/ORDO/Orphanet_251656
Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome	Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome	Orphanet	2180	http://www.orpha.net/ORDO/Orphanet_2180
Anaplastic oligoastrocytoma	Anaplastic oligoastrocytoma	Orphanet	251663	http://www.orpha.net/ORDO/Orphanet_251663
Hydrocephalus-blue sclerae-nephropathy syndrome	Hydrocephalus-blue sclerae-nephropathy syndrome	Orphanet	2186	http://www.orpha.net/ORDO/Orphanet_2186
Glial tumor of neuroepithelial tissue with unknown origin	Glial tumor of neuroepithelial tissue with unknown origin	Orphanet	251668	http://www.orpha.net/ORDO/Orphanet_251668
Angiocentric glioma	Angiocentric glioma	Orphanet	251671	http://www.orpha.net/ORDO/Orphanet_251671
Hydrolethalus	Hydrolethalus	Orphanet	2189	http://www.orpha.net/ORDO/Orphanet_2189
Chordoid glioma	Chordoid glioma	Orphanet	251674	http://www.orpha.net/ORDO/Orphanet_251674
Astroblastoma	Astroblastoma	Orphanet	251679	http://www.orpha.net/ORDO/Orphanet_251679
Autosomal dominant epidermolytic ichthyosis	Autosomal dominant epidermolytic ichthyosis	Orphanet	312	http://www.orpha.net/ORDO/Orphanet_312
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement	Orphanet	2196	http://www.orpha.net/ORDO/Orphanet_2196
Embryonal tumor of neuroepithelial tissue	Embryonal tumor of neuroepithelial tissue	Orphanet	251852	http://www.orpha.net/ORDO/Orphanet_251852
Gliosarcoma	Gliosarcoma	Orphanet	251576	http://www.orpha.net/ORDO/Orphanet_251576
NON RARE IN EUROPE: Hidradenitis suppurativa	NON RARE IN EUROPE: Hidradenitis suppurativa	Orphanet	387	http://www.orpha.net/ORDO/Orphanet_387
High-grade astrocytoma	High-grade astrocytoma	Orphanet	251561	http://www.orpha.net/ORDO/Orphanet_251561
Hirschsprung disease-type D brachydactyly syndrome	Hirschsprung disease-type D brachydactyly syndrome	Orphanet	2150	http://www.orpha.net/ORDO/Orphanet_2150
Gliomatosis cerebri	Gliomatosis cerebri	Orphanet	251582	http://www.orpha.net/ORDO/Orphanet_251582
Giant cell glioblastoma	Giant cell glioblastoma	Orphanet	251579	http://www.orpha.net/ORDO/Orphanet_251579
Mowat-Wilson syndrome	Mowat-Wilson syndrome	Orphanet	2152	http://www.orpha.net/ORDO/Orphanet_2152
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome	Hirschsprung disease-nail hypoplasia-dysmorphism syndrome	Orphanet	2153	http://www.orpha.net/ORDO/Orphanet_2153
Low-grade astrocytoma	Low-grade astrocytoma	Orphanet	251592	http://www.orpha.net/ORDO/Orphanet_251592
Anaplastic astrocytoma	Anaplastic astrocytoma	Orphanet	251589	http://www.orpha.net/ORDO/Orphanet_251589
Protoplasmic astrocytoma	Protoplasmic astrocytoma	Orphanet	251598	http://www.orpha.net/ORDO/Orphanet_251598
Hirschsprung disease-deafness-polydactyly syndrome	Hirschsprung disease-deafness-polydactyly syndrome	Orphanet	2155	http://www.orpha.net/ORDO/Orphanet_2155
Diffuse astrocytoma	Diffuse astrocytoma	Orphanet	251595	http://www.orpha.net/ORDO/Orphanet_251595
Gemistocytic astrocytoma	Gemistocytic astrocytoma	Orphanet	251604	http://www.orpha.net/ORDO/Orphanet_251604
Fibrillary astrocytoma	Fibrillary astrocytoma	Orphanet	251601	http://www.orpha.net/ORDO/Orphanet_251601
Histidinuria-renal tubular defect syndrome	Histidinuria-renal tubular defect syndrome	Orphanet	2158	http://www.orpha.net/ORDO/Orphanet_2158
Pilocytic astrocytoma	Pilocytic astrocytoma	Orphanet	251612	http://www.orpha.net/ORDO/Orphanet_251612
Holoprosencephaly-craniosynostosis syndrome	Holoprosencephaly-craniosynostosis syndrome	Orphanet	2163	http://www.orpha.net/ORDO/Orphanet_2163
Pleomorphic xanthoastrocytoma	Pleomorphic xanthoastrocytoma	Orphanet	251607	http://www.orpha.net/ORDO/Orphanet_251607
Subependymal giant cell astrocytoma	Subependymal giant cell astrocytoma	Orphanet	251618	http://www.orpha.net/ORDO/Orphanet_251618
Holoprosencephaly-caudal dysgenesis syndrome	Holoprosencephaly-caudal dysgenesis syndrome	Orphanet	2165	http://www.orpha.net/ORDO/Orphanet_2165
Pilomyxoid astrocytoma	Pilomyxoid astrocytoma	Orphanet	251615	http://www.orpha.net/ORDO/Orphanet_251615
Holoprosencephaly-postaxial polydactyly syndrome	Holoprosencephaly-postaxial polydactyly syndrome	Orphanet	2166	http://www.orpha.net/ORDO/Orphanet_2166
Oligodendroglioma	Oligodendroglioma	Orphanet	251627	http://www.orpha.net/ORDO/Orphanet_251627
Holzgreve syndrome	Holzgreve syndrome	Orphanet	2167	http://www.orpha.net/ORDO/Orphanet_2167
Pituicytoma	Pituicytoma	Orphanet	251623	http://www.orpha.net/ORDO/Orphanet_251623
Methylcobalamin deficiency type cblE	Methylcobalamin deficiency type cblE	Orphanet	2169	http://www.orpha.net/ORDO/Orphanet_2169
Extraventricular neurocytoma	Extraventricular neurocytoma	Orphanet	251927	http://www.orpha.net/ORDO/Orphanet_251927
Cerebellar liponeurocytoma	Cerebellar liponeurocytoma	Orphanet	251931	http://www.orpha.net/ORDO/Orphanet_251931
Hypertrichosis lanuginosa congenita	Hypertrichosis lanuginosa congenita	Orphanet	2222	http://www.orpha.net/ORDO/Orphanet_2222
Pineal parenchymal tumor of intermediate differenciation	Pineal parenchymal tumor of intermediate differenciation	Orphanet	251919	http://www.orpha.net/ORDO/Orphanet_251919
Hypertrichosis cubiti	Hypertrichosis cubiti	Orphanet	2220	http://www.orpha.net/ORDO/Orphanet_2220
Neuronal tumor	Neuronal tumor	Orphanet	251924	http://www.orpha.net/ORDO/Orphanet_251924
Ramos-Arroyo syndrome	Ramos-Arroyo syndrome	Orphanet	1051	http://www.orpha.net/ORDO/Orphanet_1051
Desmoplastic infantile astrocytoma/ganglioglioma	Desmoplastic infantile astrocytoma/ganglioglioma	Orphanet	251940	http://www.orpha.net/ORDO/Orphanet_251940
Dysembryoplastic neuroepithelial tumor	Dysembryoplastic neuroepithelial tumor	Orphanet	251946	http://www.orpha.net/ORDO/Orphanet_251946
Hypodontia-dysplasia of nails syndrome	Hypodontia-dysplasia of nails syndrome	Orphanet	2228	http://www.orpha.net/ORDO/Orphanet_2228
NON RARE IN EUROPE: Hypodontia	NON RARE IN EUROPE: Hypodontia	Orphanet	2227	http://www.orpha.net/ORDO/Orphanet_2227
Mixed neuronal-glial tumor	Mixed neuronal-glial tumor	Orphanet	251934	http://www.orpha.net/ORDO/Orphanet_251934
Hypertryptophanemia	Hypertryptophanemia	Orphanet	2224	http://www.orpha.net/ORDO/Orphanet_2224
Gangliocytoma	Gangliocytoma	Orphanet	251937	http://www.orpha.net/ORDO/Orphanet_251937
Primary hypergonadotropic hypogonadism-partial alopecia syndrome	Primary hypergonadotropic hypogonadism-partial alopecia syndrome	Orphanet	2232	http://www.orpha.net/ORDO/Orphanet_2232
Papillary glioneuronal tumor	Papillary glioneuronal tumor	Orphanet	251962	http://www.orpha.net/ORDO/Orphanet_251962
Rosette-forming glioneuronal tumor	Rosette-forming glioneuronal tumor	Orphanet	251975	http://www.orpha.net/ORDO/Orphanet_251975
Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome	Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome	Orphanet	2230	http://www.orpha.net/ORDO/Orphanet_2230
Ganglioglioma	Ganglioglioma	Orphanet	251949	http://www.orpha.net/ORDO/Orphanet_251949
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	Orphanet	2229	http://www.orpha.net/ORDO/Orphanet_2229
Anaplastic ganglioglioma	Anaplastic ganglioglioma	Orphanet	251957	http://www.orpha.net/ORDO/Orphanet_251957
Yolk sac tumor of central nervous system	Yolk sac tumor of central nervous system	Orphanet	252006	http://www.orpha.net/ORDO/Orphanet_252006
Familial isolated hypoparathyroidism	Familial isolated hypoparathyroidism	Orphanet	2238	http://www.orpha.net/ORDO/Orphanet_2238
Choriocarcinoma of the central nervous system	Choriocarcinoma of the central nervous system	Orphanet	252015	http://www.orpha.net/ORDO/Orphanet_252015
Hypoparathyroidism-sensorineural deafness-renal disease syndrome	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	Orphanet	2237	http://www.orpha.net/ORDO/Orphanet_2237
Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome	Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome	Orphanet	2235	http://www.orpha.net/ORDO/Orphanet_2235
Ganglioneuroma	Ganglioneuroma	Orphanet	251992	http://www.orpha.net/ORDO/Orphanet_251992
Primary germ cell tumor of central nervous system	Primary germ cell tumor of central nervous system	Orphanet	251995	http://www.orpha.net/ORDO/Orphanet_251995
Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome	Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome	Orphanet	2234	http://www.orpha.net/ORDO/Orphanet_2234
Classic medulloblastoma	Classic medulloblastoma	Orphanet	251867	http://www.orpha.net/ORDO/Orphanet_251867
Epidermolytic palmoplantar keratoderma	Epidermolytic palmoplantar keratoderma	Orphanet	2199	http://www.orpha.net/ORDO/Orphanet_2199
Desmoplastic/nodular medulloblastoma	Desmoplastic/nodular medulloblastoma	Orphanet	251863	http://www.orpha.net/ORDO/Orphanet_251863
Focal palmoplantar and gingival keratoderma	Focal palmoplantar and gingival keratoderma	Orphanet	2200	http://www.orpha.net/ORDO/Orphanet_2200
Palmoplantar keratoderma-esophageal carcinoma syndrome	Palmoplantar keratoderma-esophageal carcinoma syndrome	Orphanet	2198	http://www.orpha.net/ORDO/Orphanet_2198
Medulloblastoma with extensive nodularity	Medulloblastoma with extensive nodularity	Orphanet	251858	http://www.orpha.net/ORDO/Orphanet_251858
Transgrediens et progrediens palmoplantar keratoderma	Transgrediens et progrediens palmoplantar keratoderma	Orphanet	495	http://www.orpha.net/ORDO/Orphanet_495
Anaplastic/large cell medulloblastoma	Anaplastic/large cell medulloblastoma	Orphanet	251855	http://www.orpha.net/ORDO/Orphanet_251855
Medulloepithelioma of the central nervous system	Medulloepithelioma of the central nervous system	Orphanet	251883	http://www.orpha.net/ORDO/Orphanet_251883
Ankylosing vertebral hyperostosis with tylosis	Ankylosing vertebral hyperostosis with tylosis	Orphanet	2206	http://www.orpha.net/ORDO/Orphanet_2206
Ependymoblastoma	Ependymoblastoma	Orphanet	251880	http://www.orpha.net/ORDO/Orphanet_251880
Palmoplantar keratoderma-spastic paralysis syndrome	Palmoplantar keratoderma-spastic paralysis syndrome	Orphanet	2201	http://www.orpha.net/ORDO/Orphanet_2201
Ganglioneuroblastoma	Ganglioneuroblastoma	Orphanet	251877	http://www.orpha.net/ORDO/Orphanet_251877
Palmoplantar keratoderma-deafness syndrome	Palmoplantar keratoderma-deafness syndrome	Orphanet	2202	http://www.orpha.net/ORDO/Orphanet_2202
Central nervous system embryonal tumor	Central nervous system embryonal tumor	Orphanet	251870	http://www.orpha.net/ORDO/Orphanet_251870
Atypical papilloma of choroid plexus	Atypical papilloma of choroid plexus	Orphanet	251902	http://www.orpha.net/ORDO/Orphanet_251902
Choroid plexus carcinoma	Choroid plexus carcinoma	Orphanet	251899	http://www.orpha.net/ORDO/Orphanet_251899
Hypertelorism-microtia-facial clefting syndrome	Hypertelorism-microtia-facial clefting syndrome	Orphanet	2213	http://www.orpha.net/ORDO/Orphanet_2213
Choroid plexus tumor	Choroid plexus tumor	Orphanet	251896	http://www.orpha.net/ORDO/Orphanet_251896
Hypertelorism-hypospadias-polysyndactyly syndrome	Hypertelorism-hypospadias-polysyndactyly syndrome	Orphanet	2211	http://www.orpha.net/ORDO/Orphanet_2211
Papillary tumor of the pineal region	Papillary tumor of the pineal region	Orphanet	251915	http://www.orpha.net/ORDO/Orphanet_251915
Pineocytoma	Pineocytoma	Orphanet	251912	http://www.orpha.net/ORDO/Orphanet_251912
Cervical hypertrichosis-peripheral neuropathy syndrome	Cervical hypertrichosis-peripheral neuropathy syndrome	Orphanet	2218	http://www.orpha.net/ORDO/Orphanet_2218
Pineoblastoma	Pineoblastoma	Orphanet	251909	http://www.orpha.net/ORDO/Orphanet_251909
Multiple pterygium-malignant hyperthermia syndrome	Multiple pterygium-malignant hyperthermia syndrome	Orphanet	2215	http://www.orpha.net/ORDO/Orphanet_2215
Pineal tumor of neuroepithelial tissue	Pineal tumor of neuroepithelial tissue	Orphanet	251905	http://www.orpha.net/ORDO/Orphanet_251905
Maternal hyperthermia-induced birth defects	Maternal hyperthermia-induced birth defects	Orphanet	2216	http://www.orpha.net/ORDO/Orphanet_2216
2q32q33 microdeletion syndrome	2q32q33 microdeletion syndrome	Orphanet	251019	http://www.orpha.net/ORDO/Orphanet_251019
Hypotrichosis-intellectual disability, Lopes type	Hypotrichosis-intellectual disability, Lopes type	Orphanet	2266	http://www.orpha.net/ORDO/Orphanet_2266
SATB2-associated syndrome due to a chromosomal rearrangement	SATB2-associated syndrome due to a chromosomal rearrangement	Orphanet	251028	http://www.orpha.net/ORDO/Orphanet_251028
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome	Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome	Orphanet	2269	http://www.orpha.net/ORDO/Orphanet_2269
3q29 microduplication syndrome	3q29 microduplication syndrome	Orphanet	251038	http://www.orpha.net/ORDO/Orphanet_251038
1q41q42 microdeletion syndrome	1q41q42 microdeletion syndrome	Orphanet	250999	http://www.orpha.net/ORDO/Orphanet_250999
Hypospadias-intellectual disability, Goldblatt type syndrome	Hypospadias-intellectual disability, Goldblatt type syndrome	Orphanet	2261	http://www.orpha.net/ORDO/Orphanet_2261
Paternal uniparental disomy of chromosome 1	Paternal uniparental disomy of chromosome 1	Orphanet	251004	http://www.orpha.net/ORDO/Orphanet_251004
Maternal uniparental disomy of chromosome 1	Maternal uniparental disomy of chromosome 1	Orphanet	251009	http://www.orpha.net/ORDO/Orphanet_251009
Pallister-Hall syndrome	Pallister-Hall syndrome	Orphanet	672	http://www.orpha.net/ORDO/Orphanet_672
2q31.1 microdeletion syndrome	2q31.1 microdeletion syndrome	Orphanet	251014	http://www.orpha.net/ORDO/Orphanet_251014
Superficial epidermolytic ichthyosis	Superficial epidermolytic ichthyosis	Orphanet	455	http://www.orpha.net/ORDO/Orphanet_455
7q31 microdeletion syndrome	7q31 microdeletion syndrome	Orphanet	251061	http://www.orpha.net/ORDO/Orphanet_251061
8p11.2 deletion syndrome	8p11.2 deletion syndrome	Orphanet	251066	http://www.orpha.net/ORDO/Orphanet_251066
Ichthyosis-oral and digital anomalies syndrome	Ichthyosis-oral and digital anomalies syndrome	Orphanet	2272	http://www.orpha.net/ORDO/Orphanet_2272
8p23.1 microdeletion syndrome	8p23.1 microdeletion syndrome	Orphanet	251071	http://www.orpha.net/ORDO/Orphanet_251071
Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome	Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome	Orphanet	2274	http://www.orpha.net/ORDO/Orphanet_2274
8p23.1 duplication syndrome	8p23.1 duplication syndrome	Orphanet	251076	http://www.orpha.net/ORDO/Orphanet_251076
Ichthyosis follicularis-alopecia-photophobia syndrome	Ichthyosis follicularis-alopecia-photophobia syndrome	Orphanet	2273	http://www.orpha.net/ORDO/Orphanet_2273
Ring chromosome 5 syndrome	Ring chromosome 5 syndrome	Orphanet	251043	http://www.orpha.net/ORDO/Orphanet_251043
Neutral lipid storage disease	Neutral lipid storage disease	Orphanet	165	http://www.orpha.net/ORDO/Orphanet_165
6p22 microdeletion syndrome	6p22 microdeletion syndrome	Orphanet	251046	http://www.orpha.net/ORDO/Orphanet_251046
CHILD syndrome	CHILD syndrome	Orphanet	139	http://www.orpha.net/ORDO/Orphanet_139
Harlequin ichthyosis	Harlequin ichthyosis	Orphanet	457	http://www.orpha.net/ORDO/Orphanet_457
Congenital ichthyosis-microcephalus-tetraplegia syndrome	Congenital ichthyosis-microcephalus-tetraplegia syndrome	Orphanet	2271	http://www.orpha.net/ORDO/Orphanet_2271
6q25 microdeletion syndrome	6q25 microdeletion syndrome	Orphanet	251056	http://www.orpha.net/ORDO/Orphanet_251056
Serpinopathy with toxic serpin polymerization	Serpinopathy with toxic serpin polymerization	Orphanet	250808	http://www.orpha.net/ORDO/Orphanet_250808
Serpinopathy	Serpinopathy	Orphanet	250805	http://www.orpha.net/ORDO/Orphanet_250805
Cerebellar hypoplasia-tapetoretinal degeneration syndrome	Cerebellar hypoplasia-tapetoretinal degeneration syndrome	Orphanet	2246	http://www.orpha.net/ORDO/Orphanet_2246
Logopenic progressive aphasia	Logopenic progressive aphasia	Orphanet	250831	http://www.orpha.net/ORDO/Orphanet_250831
Ulna hypoplasia-intellectual disability syndrome	Ulna hypoplasia-intellectual disability syndrome	Orphanet	2249	http://www.orpha.net/ORDO/Orphanet_2249
Serpinopathy with loss of serpin function	Serpinopathy with loss of serpin function	Orphanet	250811	http://www.orpha.net/ORDO/Orphanet_250811
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland	Orphanet	2239	http://www.orpha.net/ORDO/Orphanet_2239
Megacystis-microcolon-intestinal hypoperistalsis syndrome	Megacystis-microcolon-intestinal hypoperistalsis syndrome	Orphanet	2241	http://www.orpha.net/ORDO/Orphanet_2241
Hypopituitarism-micropenis-cleft lip/palate syndrome	Hypopituitarism-micropenis-cleft lip/palate syndrome	Orphanet	2243	http://www.orpha.net/ORDO/Orphanet_2243
Autosomal recessive Stickler syndrome	Autosomal recessive Stickler syndrome	Orphanet	250984	http://www.orpha.net/ORDO/Orphanet_250984
Fibulo-ulnar hypoplasia-renal anomalies syndrome	Fibulo-ulnar hypoplasia-renal anomalies syndrome	Orphanet	2256	http://www.orpha.net/ORDO/Orphanet_2256
Primary pulmonary hypoplasia	Primary pulmonary hypoplasia	Orphanet	2257	http://www.orpha.net/ORDO/Orphanet_2257
AICA-ribosiduria	AICA-ribosiduria	Orphanet	250977	http://www.orpha.net/ORDO/Orphanet_250977
1q21.1 microduplication syndrome	1q21.1 microduplication syndrome	Orphanet	250994	http://www.orpha.net/ORDO/Orphanet_250994
1q21.1 microdeletion syndrome	1q21.1 microdeletion syndrome	Orphanet	250989	http://www.orpha.net/ORDO/Orphanet_250989
Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	Orphanet	2250	http://www.orpha.net/ORDO/Orphanet_2250
Isolated aniridia	Isolated aniridia	Orphanet	250923	http://www.orpha.net/ORDO/Orphanet_250923
Thumb deformity-alopecia-pigmentation anomaly syndrome	Thumb deformity-alopecia-pigmentation anomaly syndrome	Orphanet	2251	http://www.orpha.net/ORDO/Orphanet_2251
Rare neoplastic disease	Rare neoplastic disease	Orphanet	250908	http://www.orpha.net/ORDO/Orphanet_250908
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome	Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome	Orphanet	2252	http://www.orpha.net/ORDO/Orphanet_2252
Polymicrogyria with optic nerve hypoplasia	Polymicrogyria with optic nerve hypoplasia	Orphanet	250972	http://www.orpha.net/ORDO/Orphanet_250972
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	Orphanet	2255	http://www.orpha.net/ORDO/Orphanet_2255
Autosomal dominant optic atrophy and peripheral neuropathy	Autosomal dominant optic atrophy and peripheral neuropathy	Orphanet	250932	http://www.orpha.net/ORDO/Orphanet_250932
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome	Orphanet	251380	http://www.orpha.net/ORDO/Orphanet_251380
Isotretinoin-like syndrome	Isotretinoin-like syndrome	Orphanet	2306	http://www.orpha.net/ORDO/Orphanet_2306
CK syndrome	CK syndrome	Orphanet	251383	http://www.orpha.net/ORDO/Orphanet_251383
Isotretinoin syndrome	Isotretinoin syndrome	Orphanet	2305	http://www.orpha.net/ORDO/Orphanet_2305
Sickle cell-hemoglobin D disease syndrome	Sickle cell-hemoglobin D disease syndrome	Orphanet	251370	http://www.orpha.net/ORDO/Orphanet_251370
Sickle cell-hemoglobin E disease syndrome	Sickle cell-hemoglobin E disease syndrome	Orphanet	251375	http://www.orpha.net/ORDO/Orphanet_251375
Sickle cell-beta-thalassemia disease syndrome	Sickle cell-beta-thalassemia disease syndrome	Orphanet	251359	http://www.orpha.net/ORDO/Orphanet_251359
Sickle cell-hemoglobin C disease syndrome	Sickle cell-hemoglobin C disease syndrome	Orphanet	251365	http://www.orpha.net/ORDO/Orphanet_251365
Familial articular hypermobility syndrome	Familial articular hypermobility syndrome	Orphanet	2295	http://www.orpha.net/ORDO/Orphanet_2295
Sickle cell disease associated with an other hemoglobin anomaly	Sickle cell disease associated with an other hemoglobin anomaly	Orphanet	251355	http://www.orpha.net/ORDO/Orphanet_251355
Congenital bowing of long bones	Congenital bowing of long bones	Orphanet	2292	http://www.orpha.net/ORDO/Orphanet_2292
Maternal disease-related embryofetopathy	Maternal disease-related embryofetopathy	Orphanet	251535	http://www.orpha.net/ORDO/Orphanet_251535
Juberg-Hayward syndrome	Juberg-Hayward syndrome	Orphanet	2319	http://www.orpha.net/ORDO/Orphanet_2319
Rare tumor of neuroepithelial tissue	Rare tumor of neuroepithelial tissue	Orphanet	251558	http://www.orpha.net/ORDO/Orphanet_251558
Hyperzincemia and hypercalprotectinemia	Hyperzincemia and hypercalprotectinemia	Orphanet	251523	http://www.orpha.net/ORDO/Orphanet_251523
Johnson neuroectodermal syndrome	Johnson neuroectodermal syndrome	Orphanet	2316	http://www.orpha.net/ORDO/Orphanet_2316
Toxic or drug-related embryofetopathy	Toxic or drug-related embryofetopathy	Orphanet	251529	http://www.orpha.net/ORDO/Orphanet_251529
Johanson-Blizzard syndrome	Johanson-Blizzard syndrome	Orphanet	2315	http://www.orpha.net/ORDO/Orphanet_2315
46,XY partial gonadal dysgenesis	46,XY partial gonadal dysgenesis	Orphanet	251510	http://www.orpha.net/ORDO/Orphanet_251510
Distal arthrogryposis type 10	Distal arthrogryposis type 10	Orphanet	251515	http://www.orpha.net/ORDO/Orphanet_251515
Absence deformity of leg-cataract syndrome	Absence deformity of leg-cataract syndrome	Orphanet	2310	http://www.orpha.net/ORDO/Orphanet_2310
Pachyonychia congenita	Pachyonychia congenita	Orphanet	2309	http://www.orpha.net/ORDO/Orphanet_2309
Localized junctional epidermolysis bullosa, non-Herlitz type	Localized junctional epidermolysis bullosa, non-Herlitz type	Orphanet	251393	http://www.orpha.net/ORDO/Orphanet_251393
IVIC syndrome	IVIC syndrome	Orphanet	2307	http://www.orpha.net/ORDO/Orphanet_2307
Pigmented paravenous retinochoroidal atrophy	Pigmented paravenous retinochoroidal atrophy	Orphanet	251295	http://www.orpha.net/ORDO/Orphanet_251295
Parietal foramina with clavicular hypoplasia	Parietal foramina with clavicular hypoplasia	Orphanet	251290	http://www.orpha.net/ORDO/Orphanet_251290
Dysmorphism-short stature-deafness-disorder of sex development syndrome	Dysmorphism-short stature-deafness-disorder of sex development syndrome	Orphanet	2282	http://www.orpha.net/ORDO/Orphanet_2282
Benign concentric annular macular dystrophy	Benign concentric annular macular dystrophy	Orphanet	251287	http://www.orpha.net/ORDO/Orphanet_251287
Autosomal dominant spastic ataxia type 1	Autosomal dominant spastic ataxia type 1	Orphanet	251282	http://www.orpha.net/ORDO/Orphanet_251282
Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome	Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome	Orphanet	251279	http://www.orpha.net/ORDO/Orphanet_251279
Familial hyperaldosteronism type III	Familial hyperaldosteronism type III	Orphanet	251274	http://www.orpha.net/ORDO/Orphanet_251274
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome	Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome	Orphanet	2278	http://www.orpha.net/ORDO/Orphanet_2278
Familial osteochondritis dissecans	Familial osteochondritis dissecans	Orphanet	251262	http://www.orpha.net/ORDO/Orphanet_251262
Congenital velopharyngeal incompetence	Congenital velopharyngeal incompetence	Orphanet	2291	http://www.orpha.net/ORDO/Orphanet_2291
Ataxia-telangiectasia-like disorder	Ataxia-telangiectasia-like disorder	Orphanet	251347	http://www.orpha.net/ORDO/Orphanet_251347
Unexplained long-lasting fever/inflammatory syndrome	Unexplained long-lasting fever/inflammatory syndrome	Orphanet	251332	http://www.orpha.net/ORDO/Orphanet_251332
Unclassified vasculitis	Unclassified vasculitis	Orphanet	251328	http://www.orpha.net/ORDO/Orphanet_251328
Neuronal intranuclear inclusion disease	Neuronal intranuclear inclusion disease	Orphanet	2289	http://www.orpha.net/ORDO/Orphanet_2289
Drug-induced vasculitis	Drug-induced vasculitis	Orphanet	251325	http://www.orpha.net/ORDO/Orphanet_251325
Microvillus inclusion disease	Microvillus inclusion disease	Orphanet	2290	http://www.orpha.net/ORDO/Orphanet_2290
Fused mandibular incisors	Fused mandibular incisors	Orphanet	2287	http://www.orpha.net/ORDO/Orphanet_2287
Overlapping connective tissue disease	Overlapping connective tissue disease	Orphanet	251312	http://www.orpha.net/ORDO/Orphanet_251312
Primary basilar invagination	Primary basilar invagination	Orphanet	2285	http://www.orpha.net/ORDO/Orphanet_2285
Idiopathic recurrent pericarditis	Idiopathic recurrent pericarditis	Orphanet	251307	http://www.orpha.net/ORDO/Orphanet_251307
Infantile onset panniculitis with uveitis and systemic granulomatosis	Infantile onset panniculitis with uveitis and systemic granulomatosis	Orphanet	251304	http://www.orpha.net/ORDO/Orphanet_251304
Exercise intolerance with lactic acidosis	Exercise intolerance with lactic acidosis	Orphanet	254843	http://www.orpha.net/ORDO/Orphanet_254843
Cyprus facial-neuromusculoskeletal syndrome	Cyprus facial-neuromusculoskeletal syndrome	Orphanet	2674	http://www.orpha.net/ORDO/Orphanet_2674
Isolated oxidative phosphorylation complex disorder	Isolated oxidative phosphorylation complex disorder	Orphanet	254846	http://www.orpha.net/ORDO/Orphanet_254846
Unspecified mitochondrial disorder	Unspecified mitochondrial disorder	Orphanet	254837	http://www.orpha.net/ORDO/Orphanet_254837
Neurofaciodigitorenal syndrome	Neurofaciodigitorenal syndrome	Orphanet	2673	http://www.orpha.net/ORDO/Orphanet_2673
Neuhauser-Eichner-Opitz syndrome	Neuhauser-Eichner-Opitz syndrome	Orphanet	2672	http://www.orpha.net/ORDO/Orphanet_2672
Lethal infantile mitochondrial myopathy	Lethal infantile mitochondrial myopathy	Orphanet	254857	http://www.orpha.net/ORDO/Orphanet_254857
Neurofibromatosis type 6	Neurofibromatosis type 6	Orphanet	2678	http://www.orpha.net/ORDO/Orphanet_2678
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	Orphanet	254864	http://www.orpha.net/ORDO/Orphanet_254864
Neuroectodermal-endocrine syndrome	Neuroectodermal-endocrine syndrome	Orphanet	2676	http://www.orpha.net/ORDO/Orphanet_2676
Mitochondrial DNA-related dystonia	Mitochondrial DNA-related dystonia	Orphanet	254851	http://www.orpha.net/ORDO/Orphanet_254851
Pure mitochondrial myopathy	Pure mitochondrial myopathy	Orphanet	254854	http://www.orpha.net/ORDO/Orphanet_254854
Nephropathy-deafness-hyperparathyroidism syndrome	Nephropathy-deafness-hyperparathyroidism syndrome	Orphanet	2668	http://www.orpha.net/ORDO/Orphanet_2668
Multiple mitochondrial DNA deletion syndrome	Multiple mitochondrial DNA deletion syndrome	Orphanet	254807	http://www.orpha.net/ORDO/Orphanet_254807
Nathalie syndrome	Nathalie syndrome	Orphanet	2663	http://www.orpha.net/ORDO/Orphanet_2663
Ataxia neuropathy spectrum	Ataxia neuropathy spectrum	Orphanet	254818	http://www.orpha.net/ORDO/Orphanet_254818
Keipert syndrome	Keipert syndrome	Orphanet	2662	http://www.orpha.net/ORDO/Orphanet_2662
Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA	Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA	Orphanet	254793	http://www.orpha.net/ORDO/Orphanet_254793
Dwarfism-tall vertebrae syndrome	Dwarfism-tall vertebrae syndrome	Orphanet	2661	http://www.orpha.net/ORDO/Orphanet_2661
Mitochondrial DNA depletion syndrome, encephalomyopathic form	Mitochondrial DNA depletion syndrome, encephalomyopathic form	Orphanet	254803	http://www.orpha.net/ORDO/Orphanet_254803
Neu-Laxova syndrome	Neu-Laxova syndrome	Orphanet	2671	http://www.orpha.net/ORDO/Orphanet_2671
Mitochondrial substrate carrier disorder	Mitochondrial substrate carrier disorder	Orphanet	254830	http://www.orpha.net/ORDO/Orphanet_254830
Renal coloboma syndrome	Renal coloboma syndrome	Orphanet	1475	http://www.orpha.net/ORDO/Orphanet_1475
Mitochondrial protein import disorder	Mitochondrial protein import disorder	Orphanet	254834	http://www.orpha.net/ORDO/Orphanet_254834
Pierson syndrome	Pierson syndrome	Orphanet	2670	http://www.orpha.net/ORDO/Orphanet_2670
Mitochondrial oxidative phosphorylation disorder with no known mechanism	Mitochondrial oxidative phosphorylation disorder with no known mechanism	Orphanet	254822	http://www.orpha.net/ORDO/Orphanet_254822
Nephrosis-deafness-urinary tract-digital malformations syndrome	Nephrosis-deafness-urinary tract-digital malformations syndrome	Orphanet	2669	http://www.orpha.net/ORDO/Orphanet_2669
Mitochondrial membrane transport disorder	Mitochondrial membrane transport disorder	Orphanet	254827	http://www.orpha.net/ORDO/Orphanet_254827
Combined oxidative phosphorylation defect type 7	Combined oxidative phosphorylation defect type 7	Orphanet	254930	http://www.orpha.net/ORDO/Orphanet_254930
Combined oxidative phosphorylation defect type 4	Combined oxidative phosphorylation defect type 4	Orphanet	254925	http://www.orpha.net/ORDO/Orphanet_254925
Arthrogryposis-renal dysfunction-cholestasis syndrome	Arthrogryposis-renal dysfunction-cholestasis syndrome	Orphanet	2697	http://www.orpha.net/ORDO/Orphanet_2697
Combined oxidative phosphorylation defect type 2	Combined oxidative phosphorylation defect type 2	Orphanet	254920	http://www.orpha.net/ORDO/Orphanet_254920
Bifid nose	Bifid nose	Orphanet	2695	http://www.orpha.net/ORDO/Orphanet_2695
Isolated ATP synthase deficiency	Isolated ATP synthase deficiency	Orphanet	254913	http://www.orpha.net/ORDO/Orphanet_254913
Pyruvate dehydrogenase E3-binding protein deficiency	Pyruvate dehydrogenase E3-binding protein deficiency	Orphanet	255182	http://www.orpha.net/ORDO/Orphanet_255182
Noonan syndrome-like disorder with loose anagen hair	Noonan syndrome-like disorder with loose anagen hair	Orphanet	2701	http://www.orpha.net/ORDO/Orphanet_2701
Pyruvate dehydrogenase E1-beta deficiency	Pyruvate dehydrogenase E1-beta deficiency	Orphanet	255138	http://www.orpha.net/ORDO/Orphanet_255138
Adult-onset autosomal recessive sideroblastic anemia	Adult-onset autosomal recessive sideroblastic anemia	Orphanet	255132	http://www.orpha.net/ORDO/Orphanet_255132
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome	Orphanet	2698	http://www.orpha.net/ORDO/Orphanet_2698
Median nodule of the upper lip	Median nodule of the upper lip	Orphanet	2699	http://www.orpha.net/ORDO/Orphanet_2699
Autosomal recessive progressive external ophthalmoplegia	Autosomal recessive progressive external ophthalmoplegia	Orphanet	254886	http://www.orpha.net/ORDO/Orphanet_254886
Spinocerebellar ataxia with epilepsy	Spinocerebellar ataxia with epilepsy	Orphanet	254881	http://www.orpha.net/ORDO/Orphanet_254881
Mitochondrial DNA depletion syndrome, myopathic form	Mitochondrial DNA depletion syndrome, myopathic form	Orphanet	254875	http://www.orpha.net/ORDO/Orphanet_254875
Mitochondrial DNA depletion syndrome, hepatocerebral form	Mitochondrial DNA depletion syndrome, hepatocerebral form	Orphanet	254871	http://www.orpha.net/ORDO/Orphanet_254871
Isolated cytochrome C oxidase deficiency	Isolated cytochrome C oxidase deficiency	Orphanet	254905	http://www.orpha.net/ORDO/Orphanet_254905
Renal tubulopathy-encephalopathy-liver failure syndrome	Renal tubulopathy-encephalopathy-liver failure syndrome	Orphanet	254902	http://www.orpha.net/ORDO/Orphanet_254902
Neutropenia-monocytopenia-deafness syndrome	Neutropenia-monocytopenia-deafness syndrome	Orphanet	2690	http://www.orpha.net/ORDO/Orphanet_2690
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	Orphanet	254898	http://www.orpha.net/ORDO/Orphanet_254898
Nevo syndrome	Nevo syndrome	Orphanet	2691	http://www.orpha.net/ORDO/Orphanet_2691
Autosomal dominant progressive external ophthalmoplegia	Autosomal dominant progressive external ophthalmoplegia	Orphanet	254892	http://www.orpha.net/ORDO/Orphanet_254892
Oculofaciocardiodental syndrome	Oculofaciocardiodental syndrome	Orphanet	2712	http://www.orpha.net/ORDO/Orphanet_2712
Oculo-palato-cerebral syndrome	Oculo-palato-cerebral syndrome	Orphanet	2714	http://www.orpha.net/ORDO/Orphanet_2714
Oculoosteocutaneous syndrome	Oculoosteocutaneous syndrome	Orphanet	2713	http://www.orpha.net/ORDO/Orphanet_2713
Severe oculo-renal-cerebellar syndrome	Severe oculo-renal-cerebellar syndrome	Orphanet	2715	http://www.orpha.net/ORDO/Orphanet_2715
Oculotrichodysplasia	Oculotrichodysplasia	Orphanet	2718	http://www.orpha.net/ORDO/Orphanet_2718
Oculotrichoanal syndrome	Oculotrichoanal syndrome	Orphanet	2717	http://www.orpha.net/ORDO/Orphanet_2717
Ochoa syndrome	Ochoa syndrome	Orphanet	2704	http://www.orpha.net/ORDO/Orphanet_2704
Port-wine nevi-mega cisterna magna-hydrocephalus syndrome	Port-wine nevi-mega cisterna magna-hydrocephalus syndrome	Orphanet	2703	http://www.orpha.net/ORDO/Orphanet_2703
Mitochondrial DNA-associated Leigh syndrome	Mitochondrial DNA-associated Leigh syndrome	Orphanet	255210	http://www.orpha.net/ORDO/Orphanet_255210
Navajo neurohepatopathy	Navajo neurohepatopathy	Orphanet	255229	http://www.orpha.net/ORDO/Orphanet_255229
Oculocerebrofacial syndrome, Kaufman type	Oculocerebrofacial syndrome, Kaufman type	Orphanet	2707	http://www.orpha.net/ORDO/Orphanet_2707
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy	Orphanet	255235	http://www.orpha.net/ORDO/Orphanet_255235
Oculodentodigital dysplasia	Oculodentodigital dysplasia	Orphanet	2710	http://www.orpha.net/ORDO/Orphanet_2710
Leigh syndrome with leukodystrophy	Leigh syndrome with leukodystrophy	Orphanet	255241	http://www.orpha.net/ORDO/Orphanet_255241
Oculodental syndrome, Rutherfurd type	Oculodental syndrome, Rutherfurd type	Orphanet	2709	http://www.orpha.net/ORDO/Orphanet_2709
Leigh syndrome with nephrotic syndrome	Leigh syndrome with nephrotic syndrome	Orphanet	255249	http://www.orpha.net/ORDO/Orphanet_255249
Blepharophimosis-intellectual disability syndrome, Ohdo type	Blepharophimosis-intellectual disability syndrome, Ohdo type	Orphanet	2728	http://www.orpha.net/ORDO/Orphanet_2728
Postaxial tetramelic oligodactyly	Postaxial tetramelic oligodactyly	Orphanet	2730	http://www.orpha.net/ORDO/Orphanet_2730
Taurodontia-absent teeth-sparse hair syndrome	Taurodontia-absent teeth-sparse hair syndrome	Orphanet	2731	http://www.orpha.net/ORDO/Orphanet_2731
Olivopontocerebellar atrophy-deafness syndrome	Olivopontocerebellar atrophy-deafness syndrome	Orphanet	2732	http://www.orpha.net/ORDO/Orphanet_2732
Omodysplasia	Omodysplasia	Orphanet	2733	http://www.orpha.net/ORDO/Orphanet_2733
Oculocerebral hypopigmentation syndrome, Cross type	Oculocerebral hypopigmentation syndrome, Cross type	Orphanet	2719	http://www.orpha.net/ORDO/Orphanet_2719
Oculocerebral hypopigmentation syndrome, Preus type	Oculocerebral hypopigmentation syndrome, Preus type	Orphanet	2720	http://www.orpha.net/ORDO/Orphanet_2720
Odonto-onycho-dermal dysplasia	Odonto-onycho-dermal dysplasia	Orphanet	2721	http://www.orpha.net/ORDO/Orphanet_2721
Odonto-onycho dysplasia-alopecia syndrome	Odonto-onycho dysplasia-alopecia syndrome	Orphanet	2722	http://www.orpha.net/ORDO/Orphanet_2722
Odontotrichomelic syndrome	Odontotrichomelic syndrome	Orphanet	2723	http://www.orpha.net/ORDO/Orphanet_2723
Odontomatosis-aortae esophagus stenosis syndrome	Odontomatosis-aortae esophagus stenosis syndrome	Orphanet	2724	http://www.orpha.net/ORDO/Orphanet_2724
Autosomal recessive sideroblastic anemia	Autosomal recessive sideroblastic anemia	Orphanet	260305	http://www.orpha.net/ORDO/Orphanet_260305
Eye defects-arachnodactyly-cardiopathy syndrome	Eye defects-arachnodactyly-cardiopathy syndrome	Orphanet	2725	http://www.orpha.net/ORDO/Orphanet_2725
Orofaciodigital syndrome type 8	Orofaciodigital syndrome type 8	Orphanet	2755	http://www.orpha.net/ORDO/Orphanet_2755
Orofaciodigital syndrome type 6	Orofaciodigital syndrome type 6	Orphanet	2754	http://www.orpha.net/ORDO/Orphanet_2754
Benign schwannoma	Benign schwannoma	Orphanet	252164	http://www.orpha.net/ORDO/Orphanet_252164
Orofaciodigital syndrome type 4	Orofaciodigital syndrome type 4	Orphanet	2753	http://www.orpha.net/ORDO/Orphanet_2753
Orofaciodigital syndrome type 3	Orofaciodigital syndrome type 3	Orphanet	2752	http://www.orpha.net/ORDO/Orphanet_2752
Orofaciodigital syndrome type 2	Orofaciodigital syndrome type 2	Orphanet	2751	http://www.orpha.net/ORDO/Orphanet_2751
Malignant peripheral nerve sheath tumor with perineurial differentiation	Malignant peripheral nerve sheath tumor with perineurial differentiation	Orphanet	252128	http://www.orpha.net/ORDO/Orphanet_252128
Orofaciodigital syndrome type 1	Orofaciodigital syndrome type 1	Orphanet	2750	http://www.orpha.net/ORDO/Orphanet_2750
Benign peripheral nerve sheath tumor	Benign peripheral nerve sheath tumor	Orphanet	252131	http://www.orpha.net/ORDO/Orphanet_252131
Tumor of cranial and spinal nerves	Tumor of cranial and spinal nerves	Orphanet	252057	http://www.orpha.net/ORDO/Orphanet_252057
Primary melanoma of the central nervous system	Primary melanoma of the central nervous system	Orphanet	252050	http://www.orpha.net/ORDO/Orphanet_252050
Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome	Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome	Orphanet	2743	http://www.orpha.net/ORDO/Orphanet_2743
Hemangioblastoma	Hemangioblastoma	Orphanet	252054	http://www.orpha.net/ORDO/Orphanet_252054
Ophthalmomandibulomelic dysplasia	Ophthalmomandibulomelic dysplasia	Orphanet	2741	http://www.orpha.net/ORDO/Orphanet_2741
Diffuse leptomeningeal melanocytosis	Diffuse leptomeningeal melanocytosis	Orphanet	252031	http://www.orpha.net/ORDO/Orphanet_252031
Meningeal melanocytoma	Meningeal melanocytoma	Orphanet	252046	http://www.orpha.net/ORDO/Orphanet_252046
Tumor of meninges	Tumor of meninges	Orphanet	252025	http://www.orpha.net/ORDO/Orphanet_252025
Onycho-tricho-dysplasia-neutropenia syndrome	Onycho-tricho-dysplasia-neutropenia syndrome	Orphanet	2739	http://www.orpha.net/ORDO/Orphanet_2739
Primary melanocytic tumor of central nervous system	Primary melanocytic tumor of central nervous system	Orphanet	252028	http://www.orpha.net/ORDO/Orphanet_252028
Teratoma of the central nervous system	Teratoma of the central nervous system	Orphanet	252018	http://www.orpha.net/ORDO/Orphanet_252018
Ondine syndrome	Ondine syndrome	Orphanet	661	http://www.orpha.net/ORDO/Orphanet_661
Lethal omphalocele-cleft palate syndrome	Lethal omphalocele-cleft palate syndrome	Orphanet	2736	http://www.orpha.net/ORDO/Orphanet_2736
Mixed germ cell tumor of central nervous system	Mixed germ cell tumor of central nervous system	Orphanet	252021	http://www.orpha.net/ORDO/Orphanet_252021
Rare lichen planus	Rare lichen planus	Orphanet	254367	http://www.orpha.net/ORDO/Orphanet_254367
Autosomal recessive distal osteolysis syndrome	Autosomal recessive distal osteolysis syndrome	Orphanet	2776	http://www.orpha.net/ORDO/Orphanet_2776
Osteomesopyknosis	Osteomesopyknosis	Orphanet	2777	http://www.orpha.net/ORDO/Orphanet_2777
Plectin-related  limb-girdle muscular dystrophy R17	Plectin-related  limb-girdle muscular dystrophy R17	Orphanet	254361	http://www.orpha.net/ORDO/Orphanet_254361
Multicentric carpo-tarsal osteolysis with or without nephropathy	Multicentric carpo-tarsal osteolysis with or without nephropathy	Orphanet	2774	http://www.orpha.net/ORDO/Orphanet_2774
Distal 7q11.23 microdeletion syndrome	Distal 7q11.23 microdeletion syndrome	Orphanet	254351	http://www.orpha.net/ORDO/Orphanet_254351
Autosomal recessive carpotarsal osteolysis	Autosomal recessive carpotarsal osteolysis	Orphanet	2775	http://www.orpha.net/ORDO/Orphanet_2775
Familial osteodysplasia, Anderson type	Familial osteodysplasia, Anderson type	Orphanet	2769	http://www.orpha.net/ORDO/Orphanet_2769
19p13.12 microdeletion syndrome	19p13.12 microdeletion syndrome	Orphanet	254346	http://www.orpha.net/ORDO/Orphanet_254346
Nasu-Hakola disease	Nasu-Hakola disease	Orphanet	2770	http://www.orpha.net/ORDO/Orphanet_2770
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	Orphanet	254343	http://www.orpha.net/ORDO/Orphanet_254343
Carpotarsal osteochondromatosis	Carpotarsal osteochondromatosis	Orphanet	2767	http://www.orpha.net/ORDO/Orphanet_2767
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B	Orphanet	254334	http://www.orpha.net/ORDO/Orphanet_254334
Blount disease	Blount disease	Orphanet	2768	http://www.orpha.net/ORDO/Orphanet_2768
Progressive osseous heteroplasia	Progressive osseous heteroplasia	Orphanet	2762	http://www.orpha.net/ORDO/Orphanet_2762
Malignant triton tumor	Malignant triton tumor	Orphanet	252212	http://www.orpha.net/ORDO/Orphanet_252212
Osteocraniostenosis	Osteocraniostenosis	Orphanet	2763	http://www.orpha.net/ORDO/Orphanet_2763
Melanoma and neural system tumor syndrome	Melanoma and neural system tumor syndrome	Orphanet	252206	http://www.orpha.net/ORDO/Orphanet_252206
Constitutional mismatch repair deficiency syndrome	Constitutional mismatch repair deficiency syndrome	Orphanet	252202	http://www.orpha.net/ORDO/Orphanet_252202
Imperforate oropharynx-costovertebral anomalies syndrome	Imperforate oropharynx-costovertebral anomalies syndrome	Orphanet	2759	http://www.orpha.net/ORDO/Orphanet_2759
OSLAM syndrome	OSLAM syndrome	Orphanet	2760	http://www.orpha.net/ORDO/Orphanet_2760
Inherited nervous system cancer-predisposing syndrome	Inherited nervous system cancer-predisposing syndrome	Orphanet	252190	http://www.orpha.net/ORDO/Orphanet_252190
Neurofibroma	Neurofibroma	Orphanet	252183	http://www.orpha.net/ORDO/Orphanet_252183
Vestibular schwannoma	Vestibular schwannoma	Orphanet	252175	http://www.orpha.net/ORDO/Orphanet_252175
Temple syndrome	Temple syndrome	Orphanet	254516	http://www.orpha.net/ORDO/Orphanet_254516
Otoonychoperoneal syndrome	Otoonychoperoneal syndrome	Orphanet	2793	http://www.orpha.net/ORDO/Orphanet_2793
Otofaciocervical syndrome	Otofaciocervical syndrome	Orphanet	2792	http://www.orpha.net/ORDO/Orphanet_2792
Kagami-Ogata syndrome	Kagami-Ogata syndrome	Orphanet	254519	http://www.orpha.net/ORDO/Orphanet_254519
Temple syndrome due to paternal 14q32.2 microdeletion	Temple syndrome due to paternal 14q32.2 microdeletion	Orphanet	254525	http://www.orpha.net/ORDO/Orphanet_254525
Pachygyria-intellectual disability-epilepsy syndrome	Pachygyria-intellectual disability-epilepsy syndrome	Orphanet	2798	http://www.orpha.net/ORDO/Orphanet_2798
Pachydermoperiostosis	Pachydermoperiostosis	Orphanet	2796	http://www.orpha.net/ORDO/Orphanet_2796
Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	Orphanet	254528	http://www.orpha.net/ORDO/Orphanet_254528
Lichen planus pemphigoides	Lichen planus pemphigoides	Orphanet	254478	http://www.orpha.net/ORDO/Orphanet_254478
Lateral meningocele syndrome	Lateral meningocele syndrome	Orphanet	2789	http://www.orpha.net/ORDO/Orphanet_2789
Osteoporosis-pseudoglioma syndrome	Osteoporosis-pseudoglioma syndrome	Orphanet	2788	http://www.orpha.net/ORDO/Orphanet_2788
Frontal fibrosing alopecia	Frontal fibrosing alopecia	Orphanet	254492	http://www.orpha.net/ORDO/Orphanet_254492
Otodental syndrome	Otodental syndrome	Orphanet	2791	http://www.orpha.net/ORDO/Orphanet_2791
Inhalational botulism	Inhalational botulism	Orphanet	254504	http://www.orpha.net/ORDO/Orphanet_254504
Endosteal hyperostosis, Worth type	Endosteal hyperostosis, Worth type	Orphanet	2790	http://www.orpha.net/ORDO/Orphanet_2790
Iatrogenic botulism	Iatrogenic botulism	Orphanet	254509	http://www.orpha.net/ORDO/Orphanet_254509
Annular atrophic lichen planus	Annular atrophic lichen planus	Orphanet	254411	http://www.orpha.net/ORDO/Orphanet_254411
Buschke-Ollendorff syndrome	Buschke-Ollendorff syndrome	Orphanet	1306	http://www.orpha.net/ORDO/Orphanet_1306
Annular lichen planus	Annular lichen planus	Orphanet	254424	http://www.orpha.net/ORDO/Orphanet_254424
Autosomal dominant osteopetrosis type 1	Autosomal dominant osteopetrosis type 1	Orphanet	2783	http://www.orpha.net/ORDO/Orphanet_2783
Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome	Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome	Orphanet	2787	http://www.orpha.net/ORDO/Orphanet_2787
Atrophic lichen planus	Atrophic lichen planus	Orphanet	254449	http://www.orpha.net/ORDO/Orphanet_254449
Osteoporosis-oculocutaneous hypopigmentation syndrome	Osteoporosis-oculocutaneous hypopigmentation syndrome	Orphanet	2786	http://www.orpha.net/ORDO/Orphanet_2786
Lichen planus pigmentosus	Lichen planus pigmentosus	Orphanet	254463	http://www.orpha.net/ORDO/Orphanet_254463
Rare cutaneous lichen planus	Rare cutaneous lichen planus	Orphanet	254370	http://www.orpha.net/ORDO/Orphanet_254370
Osteopathia striata-cranial sclerosis syndrome	Osteopathia striata-cranial sclerosis syndrome	Orphanet	2780	http://www.orpha.net/ORDO/Orphanet_2780
Rare mucosal lichen planus	Rare mucosal lichen planus	Orphanet	254373	http://www.orpha.net/ORDO/Orphanet_254373
Osteopathia striata-pigmentary dermopathy-white forelock syndrome	Osteopathia striata-pigmentary dermopathy-white forelock syndrome	Orphanet	2779	http://www.orpha.net/ORDO/Orphanet_2779
Linear lichen planus	Linear lichen planus	Orphanet	254379	http://www.orpha.net/ORDO/Orphanet_254379
Actinic lichen planus	Actinic lichen planus	Orphanet	254395	http://www.orpha.net/ORDO/Orphanet_254395
Autosomal recessive malignant osteopetrosis	Autosomal recessive malignant osteopetrosis	Orphanet	667	http://www.orpha.net/ORDO/Orphanet_667
Spastic paraparesis-deafness syndrome	Spastic paraparesis-deafness syndrome	Orphanet	2815	http://www.orpha.net/ORDO/Orphanet_2815
Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA	Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA	Orphanet	254767	http://www.orpha.net/ORDO/Orphanet_254767
Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	Orphanet	254758	http://www.orpha.net/ORDO/Orphanet_254758
Spastic paraplegia-epilepsy-intellectual disability syndrome	Spastic paraplegia-epilepsy-intellectual disability syndrome	Orphanet	2816	http://www.orpha.net/ORDO/Orphanet_2816
Mitochondrial DNA-related mitochondrial myopathy	Mitochondrial DNA-related mitochondrial myopathy	Orphanet	254788	http://www.orpha.net/ORDO/Orphanet_254788
Spastic paraplegia-glaucoma-intellectual disability syndrome	Spastic paraplegia-glaucoma-intellectual disability syndrome	Orphanet	2818	http://www.orpha.net/ORDO/Orphanet_2818
Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA	Orphanet	254776	http://www.orpha.net/ORDO/Orphanet_254776
Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome	Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome	Orphanet	254723	http://www.orpha.net/ORDO/Orphanet_254723
Laryngeal abductor paralysis	Laryngeal abductor paralysis	Orphanet	2808	http://www.orpha.net/ORDO/Orphanet_2808
Familial sinus histiocytosis with massive lymphadenopathy	Familial sinus histiocytosis with massive lymphadenopathy	Orphanet	254712	http://www.orpha.net/ORDO/Orphanet_254712
Familial recurrent peripheral facial palsy	Familial recurrent peripheral facial palsy	Orphanet	2809	http://www.orpha.net/ORDO/Orphanet_2809
Tricarboxylic acid cycle disorder	Tricarboxylic acid cycle disorder	Orphanet	254749	http://www.orpha.net/ORDO/Orphanet_254749
Parana hard skin syndrome	Parana hard skin syndrome	Orphanet	2812	http://www.orpha.net/ORDO/Orphanet_2812
Pyruvate metabolism disorder	Pyruvate metabolism disorder	Orphanet	254746	http://www.orpha.net/ORDO/Orphanet_254746
Partial pancreatic agenesis	Partial pancreatic agenesis	Orphanet	2805	http://www.orpha.net/ORDO/Orphanet_2805
Epithelioid trophoblastic tumor	Epithelioid trophoblastic tumor	Orphanet	254698	http://www.orpha.net/ORDO/Orphanet_254698
Partial hydatidiform mole	Partial hydatidiform mole	Orphanet	254693	http://www.orpha.net/ORDO/Orphanet_254693
Annular pancreas	Annular pancreas	Orphanet	675	http://www.orpha.net/ORDO/Orphanet_675
Papilloma of choroid plexus	Papilloma of choroid plexus	Orphanet	2807	http://www.orpha.net/ORDO/Orphanet_2807
Faisalabad histiocytosis	Faisalabad histiocytosis	Orphanet	254707	http://www.orpha.net/ORDO/Orphanet_254707
Papillon-Lefèvre syndrome	Papillon-Lefèvre syndrome	Orphanet	678	http://www.orpha.net/ORDO/Orphanet_678
Genetic hyperferritinemia without iron overload	Genetic hyperferritinemia without iron overload	Orphanet	254704	http://www.orpha.net/ORDO/Orphanet_254704
Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	Orphanet	254534	http://www.orpha.net/ORDO/Orphanet_254534
X-linked sideroblastic anemia and spinocerebellar ataxia	X-linked sideroblastic anemia and spinocerebellar ataxia	Orphanet	2802	http://www.orpha.net/ORDO/Orphanet_2802
Temple syndrome due to paternal 14q32.2 hypomethylation	Temple syndrome due to paternal 14q32.2 hypomethylation	Orphanet	254531	http://www.orpha.net/ORDO/Orphanet_254531
Complete hydatidiform mole	Complete hydatidiform mole	Orphanet	254688	http://www.orpha.net/ORDO/Orphanet_254688
W syndrome	W syndrome	Orphanet	2804	http://www.orpha.net/ORDO/Orphanet_2804
Gestational trophoblastic disease	Gestational trophoblastic disease	Orphanet	254685	http://www.orpha.net/ORDO/Orphanet_254685
Anomaly of chromosome 8	Anomaly of chromosome 8	Orphanet	261718	http://www.orpha.net/ORDO/Orphanet_261718
NON RARE IN EUROPE: Primary ovarian failure	NON RARE IN EUROPE: Primary ovarian failure	Orphanet	619	http://www.orpha.net/ORDO/Orphanet_619
Anomaly of chromosome 7	Anomaly of chromosome 7	Orphanet	261715	http://www.orpha.net/ORDO/Orphanet_261715
Anomaly of chromosome 6	Anomaly of chromosome 6	Orphanet	261712	http://www.orpha.net/ORDO/Orphanet_261712
Müllerian duct anomalies-limb anomalies syndrome	Müllerian duct anomalies-limb anomalies syndrome	Orphanet	2491	http://www.orpha.net/ORDO/Orphanet_2491
Anomaly of chromosome 5	Anomaly of chromosome 5	Orphanet	261709	http://www.orpha.net/ORDO/Orphanet_261709
FATCO syndrome	FATCO syndrome	Orphanet	2492	http://www.orpha.net/ORDO/Orphanet_2492
Syndactyly type 8	Syndactyly type 8	Orphanet	2498	http://www.orpha.net/ORDO/Orphanet_2498
Anomaly of chromosome 11	Anomaly of chromosome 11	Orphanet	261730	http://www.orpha.net/ORDO/Orphanet_261730
Metachondromatosis	Metachondromatosis	Orphanet	2499	http://www.orpha.net/ORDO/Orphanet_2499
Anomaly of chromosome 10	Anomaly of chromosome 10	Orphanet	261724	http://www.orpha.net/ORDO/Orphanet_261724
Mesomelia-synostoses syndrome	Mesomelia-synostoses syndrome	Orphanet	2496	http://www.orpha.net/ORDO/Orphanet_2496
Upper limb mesomelic dysplasia	Upper limb mesomelic dysplasia	Orphanet	2497	http://www.orpha.net/ORDO/Orphanet_2497
Anomaly of chromosome 9	Anomaly of chromosome 9	Orphanet	261721	http://www.orpha.net/ORDO/Orphanet_261721
Anomaly of chromosome 15	Anomaly of chromosome 15	Orphanet	261742	http://www.orpha.net/ORDO/Orphanet_261742
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome	Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome	Orphanet	2502	http://www.orpha.net/ORDO/Orphanet_2502
Anomaly of chromosome 14	Anomaly of chromosome 14	Orphanet	261739	http://www.orpha.net/ORDO/Orphanet_261739
Anomaly of chromosome 13	Anomaly of chromosome 13	Orphanet	261736	http://www.orpha.net/ORDO/Orphanet_261736
Acrogeria	Acrogeria	Orphanet	2500	http://www.orpha.net/ORDO/Orphanet_2500
Anomaly of chromosome 12	Anomaly of chromosome 12	Orphanet	261733	http://www.orpha.net/ORDO/Orphanet_261733
Metaphyseal chondrodysplasia, Spahr type	Metaphyseal chondrodysplasia, Spahr type	Orphanet	2501	http://www.orpha.net/ORDO/Orphanet_2501
Anomaly of chromosome 19	Anomaly of chromosome 19	Orphanet	261754	http://www.orpha.net/ORDO/Orphanet_261754
Michels syndrome	Michels syndrome	Orphanet	2506	http://www.orpha.net/ORDO/Orphanet_2506
Anomaly of chromosome 18	Anomaly of chromosome 18	Orphanet	261751	http://www.orpha.net/ORDO/Orphanet_261751
Anomaly of chromosome 17	Anomaly of chromosome 17	Orphanet	261748	http://www.orpha.net/ORDO/Orphanet_261748
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome	Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome	Orphanet	2504	http://www.orpha.net/ORDO/Orphanet_2504
Anomaly of chromosome 16	Anomaly of chromosome 16	Orphanet	261745	http://www.orpha.net/ORDO/Orphanet_261745
Multiple benign circumferential skin creases on limbs	Multiple benign circumferential skin creases on limbs	Orphanet	2505	http://www.orpha.net/ORDO/Orphanet_2505
Anomaly of chromosome 22	Anomaly of chromosome 22	Orphanet	261763	http://www.orpha.net/ORDO/Orphanet_261763
Microbrachycephaly-ptosis-cleft lip syndrome	Microbrachycephaly-ptosis-cleft lip syndrome	Orphanet	2511	http://www.orpha.net/ORDO/Orphanet_2511
Partial deletion of chromosome 1	Partial deletion of chromosome 1	Orphanet	261766	http://www.orpha.net/ORDO/Orphanet_261766
Micro syndrome	Micro syndrome	Orphanet	2510	http://www.orpha.net/ORDO/Orphanet_2510
Anomaly of chromosome 20	Anomaly of chromosome 20	Orphanet	261757	http://www.orpha.net/ORDO/Orphanet_261757
Corpus callosum agenesis-abnormal genitalia syndrome	Corpus callosum agenesis-abnormal genitalia syndrome	Orphanet	2508	http://www.orpha.net/ORDO/Orphanet_2508
Anomaly of chromosome 21	Anomaly of chromosome 21	Orphanet	261760	http://www.orpha.net/ORDO/Orphanet_261760
Partial deletion of chromosome 4	Partial deletion of chromosome 4	Orphanet	261781	http://www.orpha.net/ORDO/Orphanet_261781
Microcephaly-cardiac defect-lung malsegmentation syndrome	Microcephaly-cardiac defect-lung malsegmentation syndrome	Orphanet	2516	http://www.orpha.net/ORDO/Orphanet_2516
Partial deletion of chromosome 5	Partial deletion of chromosome 5	Orphanet	261786	http://www.orpha.net/ORDO/Orphanet_261786
Microcephaly-cardiomyopathy syndrome	Microcephaly-cardiomyopathy syndrome	Orphanet	2515	http://www.orpha.net/ORDO/Orphanet_2515
Partial deletion of chromosome 2	Partial deletion of chromosome 2	Orphanet	261771	http://www.orpha.net/ORDO/Orphanet_261771
Autosomal dominant primary microcephaly	Autosomal dominant primary microcephaly	Orphanet	2514	http://www.orpha.net/ORDO/Orphanet_2514
Partial deletion of chromosome 3	Partial deletion of chromosome 3	Orphanet	261776	http://www.orpha.net/ORDO/Orphanet_261776
Microcephaly-albinism-digital anomalies syndrome	Microcephaly-albinism-digital anomalies syndrome	Orphanet	2513	http://www.orpha.net/ORDO/Orphanet_2513
Partial deletion of chromosome 8	Partial deletion of chromosome 8	Orphanet	261801	http://www.orpha.net/ORDO/Orphanet_261801
Microcephaly-cleft palate-abnormal retinal pigmentation syndrome	Microcephaly-cleft palate-abnormal retinal pigmentation syndrome	Orphanet	2521	http://www.orpha.net/ORDO/Orphanet_2521
Partial deletion of chromosome 9	Partial deletion of chromosome 9	Orphanet	261806	http://www.orpha.net/ORDO/Orphanet_261806
Partial deletion of chromosome 6	Partial deletion of chromosome 6	Orphanet	261791	http://www.orpha.net/ORDO/Orphanet_261791
Autosomal recessive chorioretinopathy-microcephaly syndrome	Autosomal recessive chorioretinopathy-microcephaly syndrome	Orphanet	2518	http://www.orpha.net/ORDO/Orphanet_2518
Partial deletion of chromosome 7	Partial deletion of chromosome 7	Orphanet	261796	http://www.orpha.net/ORDO/Orphanet_261796
Partial deletion of the long arm of chromosome 12	Partial deletion of the long arm of chromosome 12	Orphanet	261821	http://www.orpha.net/ORDO/Orphanet_261821
Pontocerebellar hypoplasia type 2	Pontocerebellar hypoplasia type 2	Orphanet	2524	http://www.orpha.net/ORDO/Orphanet_2524
Partial deletion of chromosome 16	Partial deletion of chromosome 16	Orphanet	261826	http://www.orpha.net/ORDO/Orphanet_261826
Partial deletion of chromosome 10	Partial deletion of chromosome 10	Orphanet	261811	http://www.orpha.net/ORDO/Orphanet_261811
Microcephaly-brain defect-spasticity-hypernatremia syndrome	Microcephaly-brain defect-spasticity-hypernatremia syndrome	Orphanet	2523	http://www.orpha.net/ORDO/Orphanet_2523
Partial deletion of chromosome 11	Partial deletion of chromosome 11	Orphanet	261816	http://www.orpha.net/ORDO/Orphanet_261816
Microcephaly-cervical spine fusion anomalies syndrome	Microcephaly-cervical spine fusion anomalies syndrome	Orphanet	2522	http://www.orpha.net/ORDO/Orphanet_2522
Partial deletion of chromosome 18	Partial deletion of chromosome 18	Orphanet	261836	http://www.orpha.net/ORDO/Orphanet_261836
Microcephaly-lymphedema-chorioretinopathy syndrome	Microcephaly-lymphedema-chorioretinopathy syndrome	Orphanet	2526	http://www.orpha.net/ORDO/Orphanet_2526
Partial deletion of chromosome 17	Partial deletion of chromosome 17	Orphanet	261831	http://www.orpha.net/ORDO/Orphanet_261831
Partial deletion of chromosome 20	Partial deletion of chromosome 20	Orphanet	261846	http://www.orpha.net/ORDO/Orphanet_261846
Microcephaly-microcornea syndrome, Seemanova type	Microcephaly-microcornea syndrome, Seemanova type	Orphanet	2528	http://www.orpha.net/ORDO/Orphanet_2528
Partial deletion of chromosome 19	Partial deletion of chromosome 19	Orphanet	261841	http://www.orpha.net/ORDO/Orphanet_261841
Partial deletion of the short arm of chromosome 2	Partial deletion of the short arm of chromosome 2	Orphanet	261866	http://www.orpha.net/ORDO/Orphanet_261866
Partial deletion of the short arm of chromosome 1	Partial deletion of the short arm of chromosome 1	Orphanet	261857	http://www.orpha.net/ORDO/Orphanet_261857
Partial deletion of the short arm of chromosome 4	Partial deletion of the short arm of chromosome 4	Orphanet	261884	http://www.orpha.net/ORDO/Orphanet_261884
Microcephaly-deafness-intellectual disability syndrome	Microcephaly-deafness-intellectual disability syndrome	Orphanet	2533	http://www.orpha.net/ORDO/Orphanet_2533
Partial deletion of the short arm of chromosome 3	Partial deletion of the short arm of chromosome 3	Orphanet	261875	http://www.orpha.net/ORDO/Orphanet_261875
Partial deletion of the short arm of chromosome 6	Partial deletion of the short arm of chromosome 6	Orphanet	261902	http://www.orpha.net/ORDO/Orphanet_261902
Microcornea-glaucoma-absent frontal sinuses syndrome	Microcornea-glaucoma-absent frontal sinuses syndrome	Orphanet	2536	http://www.orpha.net/ORDO/Orphanet_2536
Partial deletion of the short arm of chromosome 5	Partial deletion of the short arm of chromosome 5	Orphanet	261893	http://www.orpha.net/ORDO/Orphanet_261893
Partial deletion of the short arm of chromosome 8	Partial deletion of the short arm of chromosome 8	Orphanet	261920	http://www.orpha.net/ORDO/Orphanet_261920
Partial deletion of the short arm of chromosome 7	Partial deletion of the short arm of chromosome 7	Orphanet	261911	http://www.orpha.net/ORDO/Orphanet_261911
Partial deletion of the short arm of chromosome 10	Partial deletion of the short arm of chromosome 10	Orphanet	261938	http://www.orpha.net/ORDO/Orphanet_261938
Partial deletion of the short arm of chromosome 9	Partial deletion of the short arm of chromosome 9	Orphanet	261929	http://www.orpha.net/ORDO/Orphanet_261929
Partial deletion of the short arm of chromosome 16	Partial deletion of the short arm of chromosome 16	Orphanet	261956	http://www.orpha.net/ORDO/Orphanet_261956
Partial deletion of the short arm of chromosome 11	Partial deletion of the short arm of chromosome 11	Orphanet	261947	http://www.orpha.net/ORDO/Orphanet_261947
Partial monosomy of the short arm of chromosome 17	Partial monosomy of the short arm of chromosome 17	Orphanet	261965	http://www.orpha.net/ORDO/Orphanet_261965
Oculoauriculovertebral spectrum with radial defects	Oculoauriculovertebral spectrum with radial defects	Orphanet	2549	http://www.orpha.net/ORDO/Orphanet_2549
Partial deletion of the short arm of chromosome 18	Partial deletion of the short arm of chromosome 18	Orphanet	261974	http://www.orpha.net/ORDO/Orphanet_261974
Partial deletion of the short arm of chromosome 19	Partial deletion of the short arm of chromosome 19	Orphanet	261983	http://www.orpha.net/ORDO/Orphanet_261983
Microspherophakia-metaphyseal dysplasia syndrome	Microspherophakia-metaphyseal dysplasia syndrome	Orphanet	2551	http://www.orpha.net/ORDO/Orphanet_2551
Partial monosomy of the short arm of chromosome 20	Partial monosomy of the short arm of chromosome 20	Orphanet	261992	http://www.orpha.net/ORDO/Orphanet_261992
Partial deletion of the long arm of chromosome 1	Partial deletion of the long arm of chromosome 1	Orphanet	262001	http://www.orpha.net/ORDO/Orphanet_262001
Ear-patella-short stature syndrome	Ear-patella-short stature syndrome	Orphanet	2554	http://www.orpha.net/ORDO/Orphanet_2554
Partial deletion of the long arm of chromosome 2	Partial deletion of the long arm of chromosome 2	Orphanet	262010	http://www.orpha.net/ORDO/Orphanet_262010
Partial deletion of the long arm of chromosome 3	Partial deletion of the long arm of chromosome 3	Orphanet	262019	http://www.orpha.net/ORDO/Orphanet_262019
Microphthalmia with linear skin defects syndrome	Microphthalmia with linear skin defects syndrome	Orphanet	2556	http://www.orpha.net/ORDO/Orphanet_2556
Partial deletion of the long arm of chromosome 4	Partial deletion of the long arm of chromosome 4	Orphanet	262029	http://www.orpha.net/ORDO/Orphanet_262029
Partial deletion of the long arm of chromosome 5	Partial deletion of the long arm of chromosome 5	Orphanet	262038	http://www.orpha.net/ORDO/Orphanet_262038
Mikati-Najjar-Sahli syndrome	Mikati-Najjar-Sahli syndrome	Orphanet	2558	http://www.orpha.net/ORDO/Orphanet_2558
Partial deletion of the long arm of chromosome 6	Partial deletion of the long arm of chromosome 6	Orphanet	262047	http://www.orpha.net/ORDO/Orphanet_262047
Mietens syndrome	Mietens syndrome	Orphanet	2557	http://www.orpha.net/ORDO/Orphanet_2557
Pyramidal molars-abnormal upper lip syndrome	Pyramidal molars-abnormal upper lip syndrome	Orphanet	2561	http://www.orpha.net/ORDO/Orphanet_2561
Partial deletion of the long arm of chromosome 7	Partial deletion of the long arm of chromosome 7	Orphanet	262056	http://www.orpha.net/ORDO/Orphanet_262056
Partial deletion of the long arm of chromosome 8	Partial deletion of the long arm of chromosome 8	Orphanet	262065	http://www.orpha.net/ORDO/Orphanet_262065
Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome	Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome	Orphanet	2560	http://www.orpha.net/ORDO/Orphanet_2560
Tetramelic monodactyly	Tetramelic monodactyly	Orphanet	2564	http://www.orpha.net/ORDO/Orphanet_2564
Partial monosomy of the long arm of chromosome 9	Partial monosomy of the long arm of chromosome 9	Orphanet	262074	http://www.orpha.net/ORDO/Orphanet_262074
Partial monosomy of the long arm of chromosome 10	Partial monosomy of the long arm of chromosome 10	Orphanet	262083	http://www.orpha.net/ORDO/Orphanet_262083
MOMO syndrome	MOMO syndrome	Orphanet	2563	http://www.orpha.net/ORDO/Orphanet_2563
Partial deletion of the long arm of chromosome 11	Partial deletion of the long arm of chromosome 11	Orphanet	262092	http://www.orpha.net/ORDO/Orphanet_262092
Partial deletion of the long arm of chromosome 13	Partial deletion of the long arm of chromosome 13	Orphanet	262101	http://www.orpha.net/ORDO/Orphanet_262101
Mononen-Karnes-Senac syndrome	Mononen-Karnes-Senac syndrome	Orphanet	2565	http://www.orpha.net/ORDO/Orphanet_2565
Moynahan syndrome	Moynahan syndrome	Orphanet	2574	http://www.orpha.net/ORDO/Orphanet_2574
Muckle-Wells syndrome	Muckle-Wells syndrome	Orphanet	575	http://www.orpha.net/ORDO/Orphanet_575
Spastic ataxia-corneal dystrophy syndrome	Spastic ataxia-corneal dystrophy syndrome	Orphanet	2572	http://www.orpha.net/ORDO/Orphanet_2572
Moyamoya disease	Moyamoya disease	Orphanet	2573	http://www.orpha.net/ORDO/Orphanet_2573
Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	Orphanet	2570	http://www.orpha.net/ORDO/Orphanet_2570
X-linked immunoneurologic disorder	X-linked immunoneurologic disorder	Orphanet	2571	http://www.orpha.net/ORDO/Orphanet_2571
Moore-Federman syndrome	Moore-Federman syndrome	Orphanet	2569	http://www.orpha.net/ORDO/Orphanet_2569
15q11.2 microdeletion syndrome	15q11.2 microdeletion syndrome	Orphanet	261183	http://www.orpha.net/ORDO/Orphanet_261183
Ataxia-pancytopenia syndrome	Ataxia-pancytopenia syndrome	Orphanet	2585	http://www.orpha.net/ORDO/Orphanet_2585
14q12 microdeletion syndrome	14q12 microdeletion syndrome	Orphanet	261144	http://www.orpha.net/ORDO/Orphanet_261144
14q11.2 microdeletion syndrome	14q11.2 microdeletion syndrome	Orphanet	261120	http://www.orpha.net/ORDO/Orphanet_261120
Mayer-Rokitansky-Küster-Hauser syndrome type 2	Mayer-Rokitansky-Küster-Hauser syndrome type 2	Orphanet	2578	http://www.orpha.net/ORDO/Orphanet_2578
Monosomy 9p	Monosomy 9p	Orphanet	261112	http://www.orpha.net/ORDO/Orphanet_261112
Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome	Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome	Orphanet	2579	http://www.orpha.net/ORDO/Orphanet_2579
Distal 7q11.23 microduplication syndrome	Distal 7q11.23 microduplication syndrome	Orphanet	261102	http://www.orpha.net/ORDO/Orphanet_261102
Mulibrey nanism	Mulibrey nanism	Orphanet	2576	http://www.orpha.net/ORDO/Orphanet_2576
16p13.11 microdeletion syndrome	16p13.11 microdeletion syndrome	Orphanet	261236	http://www.orpha.net/ORDO/Orphanet_261236
16p13.11 microduplication syndrome	16p13.11 microduplication syndrome	Orphanet	261243	http://www.orpha.net/ORDO/Orphanet_261243
N syndrome	N syndrome	Orphanet	2608	http://www.orpha.net/ORDO/Orphanet_2608
Distal 16p11.2 microdeletion syndrome	Distal 16p11.2 microdeletion syndrome	Orphanet	261222	http://www.orpha.net/ORDO/Orphanet_261222
Carney complex	Carney complex	Orphanet	1359	http://www.orpha.net/ORDO/Orphanet_1359
Tubular aggregate myopathy	Tubular aggregate myopathy	Orphanet	2593	http://www.orpha.net/ORDO/Orphanet_2593
14q11.2 microduplication syndrome	14q11.2 microduplication syndrome	Orphanet	261229	http://www.orpha.net/ORDO/Orphanet_261229
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	Orphanet	2590	http://www.orpha.net/ORDO/Orphanet_2590
16p11.2p12.2 microduplication syndrome	16p11.2p12.2 microduplication syndrome	Orphanet	261204	http://www.orpha.net/ORDO/Orphanet_261204
16p11.2p12.2 microdeletion syndrome	16p11.2p12.2 microdeletion syndrome	Orphanet	261211	http://www.orpha.net/ORDO/Orphanet_261211
Myoclonus-cerebellar ataxia-deafness syndrome	Myoclonus-cerebellar ataxia-deafness syndrome	Orphanet	2589	http://www.orpha.net/ORDO/Orphanet_2589
15q14 microdeletion syndrome	15q14 microdeletion syndrome	Orphanet	261190	http://www.orpha.net/ORDO/Orphanet_261190
Myhre syndrome	Myhre syndrome	Orphanet	2588	http://www.orpha.net/ORDO/Orphanet_2588
Proximal 16p11.2 microdeletion syndrome	Proximal 16p11.2 microdeletion syndrome	Orphanet	261197	http://www.orpha.net/ORDO/Orphanet_261197
20p12.3 microdeletion syndrome	20p12.3 microdeletion syndrome	Orphanet	261295	http://www.orpha.net/ORDO/Orphanet_261295
Paternal 20q13.2q13.3 microdeletion syndrome	Paternal 20q13.2q13.3 microdeletion syndrome	Orphanet	261304	http://www.orpha.net/ORDO/Orphanet_261304
17q23.1q23.2 microdeletion syndrome	17q23.1q23.2 microdeletion syndrome	Orphanet	261279	http://www.orpha.net/ORDO/Orphanet_261279
Trisomy 17p	Trisomy 17p	Orphanet	261290	http://www.orpha.net/ORDO/Orphanet_261290
Microcephalic primordial dwarfism, Montreal type	Microcephalic primordial dwarfism, Montreal type	Orphanet	2617	http://www.orpha.net/ORDO/Orphanet_2617
17q12 microdeletion syndrome	17q12 microdeletion syndrome	Orphanet	261265	http://www.orpha.net/ORDO/Orphanet_261265
17q12 microduplication syndrome	17q12 microduplication syndrome	Orphanet	261272	http://www.orpha.net/ORDO/Orphanet_261272
16q24.3 microdeletion syndrome	16q24.3 microdeletion syndrome	Orphanet	261250	http://www.orpha.net/ORDO/Orphanet_261250
3M syndrome	3M syndrome	Orphanet	2616	http://www.orpha.net/ORDO/Orphanet_2616
Nail-patella-like renal disease	Nail-patella-like renal disease	Orphanet	2613	http://www.orpha.net/ORDO/Orphanet_2613
Distal 17p13.3 microdeletion syndrome	Distal 17p13.3 microdeletion syndrome	Orphanet	261257	http://www.orpha.net/ORDO/Orphanet_261257
Trisomy 1q	Trisomy 1q	Orphanet	261344	http://www.orpha.net/ORDO/Orphanet_261344
Distal 22q11.2 microduplication syndrome	Distal 22q11.2 microduplication syndrome	Orphanet	261337	http://www.orpha.net/ORDO/Orphanet_261337
Xp21 microdeletion syndrome	Xp21 microdeletion syndrome	Orphanet	261476	http://www.orpha.net/ORDO/Orphanet_261476
2p15p16.1 microdeletion syndrome	2p15p16.1 microdeletion syndrome	Orphanet	261349	http://www.orpha.net/ORDO/Orphanet_261349
Trisomy 20p	Trisomy 20p	Orphanet	261318	http://www.orpha.net/ORDO/Orphanet_261318
20q13.33 microdeletion syndrome	20q13.33 microdeletion syndrome	Orphanet	261311	http://www.orpha.net/ORDO/Orphanet_261311
Geleophysic dysplasia	Geleophysic dysplasia	Orphanet	2623	http://www.orpha.net/ORDO/Orphanet_2623
Distal 22q11.2 microdeletion syndrome	Distal 22q11.2 microdeletion syndrome	Orphanet	261330	http://www.orpha.net/ORDO/Orphanet_261330
21q22.11q22.12 microdeletion syndrome	21q22.11q22.12 microdeletion syndrome	Orphanet	261323	http://www.orpha.net/ORDO/Orphanet_261323
Paternal uniparental disomy of chromosome X	Paternal uniparental disomy of chromosome X	Orphanet	261524	http://www.orpha.net/ORDO/Orphanet_261524
Fibular aplasia-complex brachydactyly syndrome	Fibular aplasia-complex brachydactyly syndrome	Orphanet	2639	http://www.orpha.net/ORDO/Orphanet_2639
Maternal uniparental disomy of chromosome X	Maternal uniparental disomy of chromosome X	Orphanet	261519	http://www.orpha.net/ORDO/Orphanet_261519
49,XXXYY syndrome	49,XXXYY syndrome	Orphanet	261534	http://www.orpha.net/ORDO/Orphanet_261534
Lethal short-limb dwarfism, McAlister-Crane type	Lethal short-limb dwarfism, McAlister-Crane type	Orphanet	2640	http://www.orpha.net/ORDO/Orphanet_2640
Ring chromosome Y syndrome	Ring chromosome Y syndrome	Orphanet	261529	http://www.orpha.net/ORDO/Orphanet_261529
Mesomelic dwarfism-cleft palate-camptodactyly syndrome	Mesomelic dwarfism-cleft palate-camptodactyly syndrome	Orphanet	2631	http://www.orpha.net/ORDO/Orphanet_2631
Kleefstra syndrome	Kleefstra syndrome	Orphanet	261494	http://www.orpha.net/ORDO/Orphanet_261494
Xq27.3q28 duplication syndrome	Xq27.3q28 duplication syndrome	Orphanet	261483	http://www.orpha.net/ORDO/Orphanet_261483
Langer mesomelic dysplasia	Langer mesomelic dysplasia	Orphanet	2632	http://www.orpha.net/ORDO/Orphanet_2632
Mesomelic dysplasia, Nievergelt type	Mesomelic dysplasia, Nievergelt type	Orphanet	2633	http://www.orpha.net/ORDO/Orphanet_2633
Atypical Norrie disease due to Xp11.3 microdeletion	Atypical Norrie disease due to Xp11.3 microdeletion	Orphanet	261501	http://www.orpha.net/ORDO/Orphanet_261501
Mesomelic dwarfism, Reinhardt-Pfeiffer type	Mesomelic dwarfism, Reinhardt-Pfeiffer type	Orphanet	2634	http://www.orpha.net/ORDO/Orphanet_2634
Parastremmatic dwarfism	Parastremmatic dwarfism	Orphanet	2646	http://www.orpha.net/ORDO/Orphanet_2646
Osteoglosphonic dysplasia	Osteoglosphonic dysplasia	Orphanet	2645	http://www.orpha.net/ORDO/Orphanet_2645
Familial adenomatous polyposis due to 5q22.2 microdeletion	Familial adenomatous polyposis due to 5q22.2 microdeletion	Orphanet	261584	http://www.orpha.net/ORDO/Orphanet_261584
Alagille syndrome due to 20p12 microdeletion	Alagille syndrome due to 20p12 microdeletion	Orphanet	261600	http://www.orpha.net/ORDO/Orphanet_261600
Alagille syndrome due to a JAG1 point mutation	Alagille syndrome due to a JAG1 point mutation	Orphanet	261619	http://www.orpha.net/ORDO/Orphanet_261619
Mowat-Wilson syndrome due to monosomy 2q22	Mowat-Wilson syndrome due to monosomy 2q22	Orphanet	261537	http://www.orpha.net/ORDO/Orphanet_261537
Microcephalic primordial dwarfism, Toriello type	Microcephalic primordial dwarfism, Toriello type	Orphanet	2643	http://www.orpha.net/ORDO/Orphanet_2643
Mowat-Wilson syndrome due to a ZEB2 point mutation	Mowat-Wilson syndrome due to a ZEB2 point mutation	Orphanet	261552	http://www.orpha.net/ORDO/Orphanet_261552
Microcephalic osteodysplastic primordial dwarfism types I and III	Microcephalic osteodysplastic primordial dwarfism types I and III	Orphanet	2636	http://www.orpha.net/ORDO/Orphanet_2636
Anomaly of chromosome 1	Anomaly of chromosome 1	Orphanet	261697	http://www.orpha.net/ORDO/Orphanet_261697
Lenz-Majewski hyperostotic dwarfism	Lenz-Majewski hyperostotic dwarfism	Orphanet	2658	http://www.orpha.net/ORDO/Orphanet_2658
Anomaly of chromosome 2	Anomaly of chromosome 2	Orphanet	261700	http://www.orpha.net/ORDO/Orphanet_261700
Anomaly of chromosome 3	Anomaly of chromosome 3	Orphanet	261703	http://www.orpha.net/ORDO/Orphanet_261703
Anomaly of chromosome 4	Anomaly of chromosome 4	Orphanet	261706	http://www.orpha.net/ORDO/Orphanet_261706
Alagille syndrome due to a NOTCH2 point mutation	Alagille syndrome due to a NOTCH2 point mutation	Orphanet	261629	http://www.orpha.net/ORDO/Orphanet_261629
Okihiro syndrome due to 20q13 microdeletion	Okihiro syndrome due to 20q13 microdeletion	Orphanet	261638	http://www.orpha.net/ORDO/Orphanet_261638
Okihiro syndrome due to a point mutation	Okihiro syndrome due to a point mutation	Orphanet	261647	http://www.orpha.net/ORDO/Orphanet_261647
Syndesmodysplasic dwarfism	Syndesmodysplasic dwarfism	Orphanet	2654	http://www.orpha.net/ORDO/Orphanet_2654
Kleefstra syndrome due to a point mutation	Kleefstra syndrome due to a point mutation	Orphanet	261652	http://www.orpha.net/ORDO/Orphanet_261652
14q22q23 microdeletion syndrome	14q22q23 microdeletion syndrome	Orphanet	264200	http://www.orpha.net/ORDO/Orphanet_264200
Y chromosomal anomaly	Y chromosomal anomaly	Orphanet	263798	http://www.orpha.net/ORDO/Orphanet_263798
X-linked intellectual disability, Gu type	X-linked intellectual disability, Gu type	Orphanet	3059	http://www.orpha.net/ORDO/Orphanet_3059
Uniparental disomy of chromosome X	Uniparental disomy of chromosome X	Orphanet	263793	http://www.orpha.net/ORDO/Orphanet_263793
Partial duplication of the long arm of chromosome X	Partial duplication of the long arm of chromosome X	Orphanet	263783	http://www.orpha.net/ORDO/Orphanet_263783
X-linked intellectual disability, Brooks type	X-linked intellectual disability, Brooks type	Orphanet	3056	http://www.orpha.net/ORDO/Orphanet_3056
Partial duplication of the short arm of chromosome X	Partial duplication of the short arm of chromosome X	Orphanet	263775	http://www.orpha.net/ORDO/Orphanet_263775
Partial duplication of chromosome X	Partial duplication of chromosome X	Orphanet	263768	http://www.orpha.net/ORDO/Orphanet_263768
Monoamine oxidase A deficiency	Monoamine oxidase A deficiency	Orphanet	3057	http://www.orpha.net/ORDO/Orphanet_3057
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome	X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome	Orphanet	3055	http://www.orpha.net/ORDO/Orphanet_3055
Partial deletion of the long arm of chromosome X	Partial deletion of the long arm of chromosome X	Orphanet	263756	http://www.orpha.net/ORDO/Orphanet_263756
X and Y chromosomal anomaly	X and Y chromosomal anomaly	Orphanet	263749	http://www.orpha.net/ORDO/Orphanet_263749
Y chromosome number anomaly	Y chromosome number anomaly	Orphanet	263746	http://www.orpha.net/ORDO/Orphanet_263746
X-linked intellectual disability-seizures-psoriasis syndrome	X-linked intellectual disability-seizures-psoriasis syndrome	Orphanet	3052	http://www.orpha.net/ORDO/Orphanet_3052
Partial monosomy of the short arm of chromosome X	Partial monosomy of the short arm of chromosome X	Orphanet	263731	http://www.orpha.net/ORDO/Orphanet_263731
Partial deletion of chromosome X	Partial deletion of chromosome X	Orphanet	263726	http://www.orpha.net/ORDO/Orphanet_263726
Blepharophimosis-intellectual disability syndrome, SBBYS type	Blepharophimosis-intellectual disability syndrome, SBBYS type	Orphanet	3047	http://www.orpha.net/ORDO/Orphanet_3047
Polysomy of X chromosome	Polysomy of X chromosome	Orphanet	263723	http://www.orpha.net/ORDO/Orphanet_263723
X chromosome number anomaly with male phenotype	X chromosome number anomaly with male phenotype	Orphanet	263720	http://www.orpha.net/ORDO/Orphanet_263720
Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome	Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome	Orphanet	3044	http://www.orpha.net/ORDO/Orphanet_3044
X chromosome number anomaly	X chromosome number anomaly	Orphanet	263714	http://www.orpha.net/ORDO/Orphanet_263714
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	Orphanet	3042	http://www.orpha.net/ORDO/Orphanet_3042
X chromosome number anomaly with female phenotype	X chromosome number anomaly with female phenotype	Orphanet	263717	http://www.orpha.net/ORDO/Orphanet_263717
Intellectual disability-balding-patella luxation-acromicria syndrome	Intellectual disability-balding-patella luxation-acromicria syndrome	Orphanet	3041	http://www.orpha.net/ORDO/Orphanet_3041
Complex chromosomal rearrangement	Complex chromosomal rearrangement	Orphanet	263708	http://www.orpha.net/ORDO/Orphanet_263708
X chromosome anomaly	X chromosome anomaly	Orphanet	263711	http://www.orpha.net/ORDO/Orphanet_263711
Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome	Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome	Orphanet	3038	http://www.orpha.net/ORDO/Orphanet_3038
NK-cell enteropathy	NK-cell enteropathy	Orphanet	263665	http://www.orpha.net/ORDO/Orphanet_263665
Peeling skin syndrome type C	Peeling skin syndrome type C	Orphanet	263558	http://www.orpha.net/ORDO/Orphanet_263558
Growth delay-hydrocephaly-lung hypoplasia syndrome	Growth delay-hydrocephaly-lung hypoplasia syndrome	Orphanet	3035	http://www.orpha.net/ORDO/Orphanet_3035
Familial multiple meningioma	Familial multiple meningioma	Orphanet	263662	http://www.orpha.net/ORDO/Orphanet_263662
Delayed membranous cranial ossification	Delayed membranous cranial ossification	Orphanet	3034	http://www.orpha.net/ORDO/Orphanet_3034
Peeling skin syndrome type A	Peeling skin syndrome type A	Orphanet	263548	http://www.orpha.net/ORDO/Orphanet_263548
Renal tubular dysgenesis	Renal tubular dysgenesis	Orphanet	3033	http://www.orpha.net/ORDO/Orphanet_3033
Peeling skin syndrome type B	Peeling skin syndrome type B	Orphanet	263553	http://www.orpha.net/ORDO/Orphanet_263553
NPHP3-related Meckel-like syndrome	NPHP3-related Meckel-like syndrome	Orphanet	3032	http://www.orpha.net/ORDO/Orphanet_3032
Acral peeling skin syndrome	Acral peeling skin syndrome	Orphanet	263534	http://www.orpha.net/ORDO/Orphanet_263534
Generalized peeling skin syndrome	Generalized peeling skin syndrome	Orphanet	263543	http://www.orpha.net/ORDO/Orphanet_263543
Progressive myoclonic epilepsy type 3	Progressive myoclonic epilepsy type 3	Orphanet	263516	http://www.orpha.net/ORDO/Orphanet_263516
NON RARE IN EUROPE: Horseshoe kidney	NON RARE IN EUROPE: Horseshoe kidney	Orphanet	3029	http://www.orpha.net/ORDO/Orphanet_3029
Acute necrotizing encephalopathy of childhood	Acute necrotizing encephalopathy of childhood	Orphanet	263524	http://www.orpha.net/ORDO/Orphanet_263524
COG4-CDG	COG4-CDG	Orphanet	263501	http://www.orpha.net/ORDO/Orphanet_263501
Radial ray hypoplasia-choanal atresia syndrome	Radial ray hypoplasia-choanal atresia syndrome	Orphanet	3026	http://www.orpha.net/ORDO/Orphanet_3026
COG1-CDG	COG1-CDG	Orphanet	263508	http://www.orpha.net/ORDO/Orphanet_263508
Spondyloepiphyseal dysplasia, Maroteaux type	Spondyloepiphyseal dysplasia, Maroteaux type	Orphanet	263482	http://www.orpha.net/ORDO/Orphanet_263482
RAPADILINO syndrome	RAPADILINO syndrome	Orphanet	3021	http://www.orpha.net/ORDO/Orphanet_3021
Rapp-Hodgkin syndrome	Rapp-Hodgkin syndrome	Orphanet	3022	http://www.orpha.net/ORDO/Orphanet_3022
Fuchs heterochromic iridocyclitis	Fuchs heterochromic iridocyclitis	Orphanet	263479	http://www.orpha.net/ORDO/Orphanet_263479
DPM3-CDG	DPM3-CDG	Orphanet	263494	http://www.orpha.net/ORDO/Orphanet_263494
External auditory canal atresia-vertical talus-hypertelorism syndrome	External auditory canal atresia-vertical talus-hypertelorism syndrome	Orphanet	3023	http://www.orpha.net/ORDO/Orphanet_3023
COG5-CDG	COG5-CDG	Orphanet	263487	http://www.orpha.net/ORDO/Orphanet_263487
Hyperinsulinism due to INSR deficiency	Hyperinsulinism due to INSR deficiency	Orphanet	263458	http://www.orpha.net/ORDO/Orphanet_263458
Hyperinsulinism due to HNF4A deficiency	Hyperinsulinism due to HNF4A deficiency	Orphanet	263455	http://www.orpha.net/ORDO/Orphanet_263455
Lethal osteosclerotic bone dysplasia	Lethal osteosclerotic bone dysplasia	Orphanet	1832	http://www.orpha.net/ORDO/Orphanet_1832
Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome	Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome	Orphanet	3018	http://www.orpha.net/ORDO/Orphanet_3018
Ramon syndrome	Ramon syndrome	Orphanet	3019	http://www.orpha.net/ORDO/Orphanet_3019
CHST3-related skeletal dysplasia	CHST3-related skeletal dysplasia	Orphanet	263463	http://www.orpha.net/ORDO/Orphanet_263463
Nevus of Ito	Nevus of Ito	Orphanet	263432	http://www.orpha.net/ORDO/Orphanet_263432
Nevus of Ota	Nevus of Ota	Orphanet	263425	http://www.orpha.net/ORDO/Orphanet_263425
Radio-renal syndrome	Radio-renal syndrome	Orphanet	3015	http://www.orpha.net/ORDO/Orphanet_3015
Neuroacanthocytosis	Neuroacanthocytosis	Orphanet	263440	http://www.orpha.net/ORDO/Orphanet_263440
Congenital smooth muscle hamartoma	Congenital smooth muscle hamartoma	Orphanet	263435	http://www.orpha.net/ORDO/Orphanet_263435
Absent radius-anogenital anomalies syndrome	Absent radius-anogenital anomalies syndrome	Orphanet	3016	http://www.orpha.net/ORDO/Orphanet_3016
Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	Orphanet	263410	http://www.orpha.net/ORDO/Orphanet_263410
Qazi-Markouizos syndrome	Qazi-Markouizos syndrome	Orphanet	3010	http://www.orpha.net/ORDO/Orphanet_3010
ATR-X-related syndrome	ATR-X-related syndrome	Orphanet	263355	http://www.orpha.net/ORDO/Orphanet_263355
Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome	Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome	Orphanet	3011	http://www.orpha.net/ORDO/Orphanet_3011
Bartter syndrome with hypocalcemia	Bartter syndrome with hypocalcemia	Orphanet	263417	http://www.orpha.net/ORDO/Orphanet_263417
Rabson-Mendenhall syndrome	Rabson-Mendenhall syndrome	Orphanet	769	http://www.orpha.net/ORDO/Orphanet_769
Angiosarcoma	Angiosarcoma	Orphanet	263413	http://www.orpha.net/ORDO/Orphanet_263413
Pyknoachondrogenesis	Pyknoachondrogenesis	Orphanet	3003	http://www.orpha.net/ORDO/Orphanet_3003
Moderately-differentiated thymic neuroendocrine carcinoma	Moderately-differentiated thymic neuroendocrine carcinoma	Orphanet	263335	http://www.orpha.net/ORDO/Orphanet_263335
Poorly differentiated thymic neuroendocrine carcinoma	Poorly differentiated thymic neuroendocrine carcinoma	Orphanet	263339	http://www.orpha.net/ORDO/Orphanet_263339
Pyle disease	Pyle disease	Orphanet	3005	http://www.orpha.net/ORDO/Orphanet_3005
MRCS syndrome	MRCS syndrome	Orphanet	263347	http://www.orpha.net/ORDO/Orphanet_263347
Postcardiotomy right ventricular failure	Postcardiotomy right ventricular failure	Orphanet	263352	http://www.orpha.net/ORDO/Orphanet_263352
Mirror polydactyly-vertebral segmentation-limbs defects syndrome	Mirror polydactyly-vertebral segmentation-limbs defects syndrome	Orphanet	3004	http://www.orpha.net/ORDO/Orphanet_3004
Thymoma type A	Thymoma type A	Orphanet	263310	http://www.orpha.net/ORDO/Orphanet_263310
Ptosis-vocal cord paralysis syndrome	Ptosis-vocal cord paralysis syndrome	Orphanet	2997	http://www.orpha.net/ORDO/Orphanet_2997
Thymoma type B	Thymoma type B	Orphanet	263317	http://www.orpha.net/ORDO/Orphanet_263317
Thymoma type AB	Thymoma type AB	Orphanet	263324	http://www.orpha.net/ORDO/Orphanet_263324
Ptosis-strabismus-ectopic pupils syndrome	Ptosis-strabismus-ectopic pupils syndrome	Orphanet	2999	http://www.orpha.net/ORDO/Orphanet_2999
Well-differentiated thymic neuroendocrine carcinoma	Well-differentiated thymic neuroendocrine carcinoma	Orphanet	263331	http://www.orpha.net/ORDO/Orphanet_263331
Carnevale syndrome	Carnevale syndrome	Orphanet	2998	http://www.orpha.net/ORDO/Orphanet_2998
Uniparental disomy of chromosome 15	Uniparental disomy of chromosome 15	Orphanet	263054	http://www.orpha.net/ORDO/Orphanet_263054
Uniparental disomy of chromosome 20	Uniparental disomy of chromosome 20	Orphanet	263059	http://www.orpha.net/ORDO/Orphanet_263059
Autosomal recessive multiple pterygium syndrome	Autosomal recessive multiple pterygium syndrome	Orphanet	2990	http://www.orpha.net/ORDO/Orphanet_2990
Uniparental disomy of chromosome 21	Uniparental disomy of chromosome 21	Orphanet	263064	http://www.orpha.net/ORDO/Orphanet_263064
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	Orphanet	263297	http://www.orpha.net/ORDO/Orphanet_263297
Uniparental disomy of chromosome 11	Uniparental disomy of chromosome 11	Orphanet	263034	http://www.orpha.net/ORDO/Orphanet_263034
Antecubital pterygium syndrome	Antecubital pterygium syndrome	Orphanet	2987	http://www.orpha.net/ORDO/Orphanet_2987
Pseudoprogeria syndrome	Pseudoprogeria syndrome	Orphanet	2985	http://www.orpha.net/ORDO/Orphanet_2985
Uniparental disomy of chromosome 13	Uniparental disomy of chromosome 13	Orphanet	263044	http://www.orpha.net/ORDO/Orphanet_263044
Uniparental disomy of chromosome 14	Uniparental disomy of chromosome 14	Orphanet	263049	http://www.orpha.net/ORDO/Orphanet_263049
Pterygium colli-intellectual disability-digital anomalies syndrome	Pterygium colli-intellectual disability-digital anomalies syndrome	Orphanet	2988	http://www.orpha.net/ORDO/Orphanet_2988
Partial trisomy of the long arm of chromosome 20	Partial trisomy of the long arm of chromosome 20	Orphanet	262995	http://www.orpha.net/ORDO/Orphanet_262995
Partial duplication of the long arm of chromosome 19	Partial duplication of the long arm of chromosome 19	Orphanet	262986	http://www.orpha.net/ORDO/Orphanet_262986
Ulnar-mammary syndrome	Ulnar-mammary syndrome	Orphanet	3138	http://www.orpha.net/ORDO/Orphanet_3138
Partial trisomy of the long arm of chromosome 18	Partial trisomy of the long arm of chromosome 18	Orphanet	262977	http://www.orpha.net/ORDO/Orphanet_262977
Partial duplication of the long arm of chromosome 17	Partial duplication of the long arm of chromosome 17	Orphanet	262968	http://www.orpha.net/ORDO/Orphanet_262968
Uniparental disomy of chromosome 7	Uniparental disomy of chromosome 7	Orphanet	263029	http://www.orpha.net/ORDO/Orphanet_263029
Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome	Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome	Orphanet	3145	http://www.orpha.net/ORDO/Orphanet_3145
Uniparental disomy of chromosome 6	Uniparental disomy of chromosome 6	Orphanet	263024	http://www.orpha.net/ORDO/Orphanet_263024
Uniparental disomy of chromosome 1	Uniparental disomy of chromosome 1	Orphanet	263019	http://www.orpha.net/ORDO/Orphanet_263019
Autoimmune polyendocrinopathy type 2	Autoimmune polyendocrinopathy type 2	Orphanet	3143	http://www.orpha.net/ORDO/Orphanet_3143
Schneckenbecken dysplasia	Schneckenbecken dysplasia	Orphanet	3144	http://www.orpha.net/ORDO/Orphanet_3144
Partial duplication of the long arm of chromosome 22	Partial duplication of the long arm of chromosome 22	Orphanet	263004	http://www.orpha.net/ORDO/Orphanet_263004
Partial duplication of the long arm of chromosome 11	Partial duplication of the long arm of chromosome 11	Orphanet	262923	http://www.orpha.net/ORDO/Orphanet_262923
Say-Barber-Miller syndrome	Say-Barber-Miller syndrome	Orphanet	3132	http://www.orpha.net/ORDO/Orphanet_3132
Partial duplication of the long arm of chromosome 10	Partial duplication of the long arm of chromosome 10	Orphanet	262914	http://www.orpha.net/ORDO/Orphanet_262914
Partial trisomy of the long arm of chromosome 9	Partial trisomy of the long arm of chromosome 9	Orphanet	262905	http://www.orpha.net/ORDO/Orphanet_262905
Satoyoshi syndrome	Satoyoshi syndrome	Orphanet	3130	http://www.orpha.net/ORDO/Orphanet_3130
Partial duplication of the long arm of chromosome 8	Partial duplication of the long arm of chromosome 8	Orphanet	262896	http://www.orpha.net/ORDO/Orphanet_262896
Partial trisomy of the long arm of chromosome 16	Partial trisomy of the long arm of chromosome 16	Orphanet	262959	http://www.orpha.net/ORDO/Orphanet_262959
Schinzel-Giedion syndrome	Schinzel-Giedion syndrome	Orphanet	798	http://www.orpha.net/ORDO/Orphanet_798
Partial duplication of the long arm of chromosome 15	Partial duplication of the long arm of chromosome 15	Orphanet	262950	http://www.orpha.net/ORDO/Orphanet_262950
Say-Field-Coldwell syndrome	Say-Field-Coldwell syndrome	Orphanet	3133	http://www.orpha.net/ORDO/Orphanet_3133
Partial duplication of the long arm of chromosome 14	Partial duplication of the long arm of chromosome 14	Orphanet	262941	http://www.orpha.net/ORDO/Orphanet_262941
SCARF syndrome	SCARF syndrome	Orphanet	3134	http://www.orpha.net/ORDO/Orphanet_3134
Partial duplication of the long arm of chromosome 13	Partial duplication of the long arm of chromosome 13	Orphanet	262932	http://www.orpha.net/ORDO/Orphanet_262932
Ruvalcaba syndrome	Ruvalcaba syndrome	Orphanet	3121	http://www.orpha.net/ORDO/Orphanet_3121
Partial duplication of the long arm of chromosome 2	Partial duplication of the long arm of chromosome 2	Orphanet	262842	http://www.orpha.net/ORDO/Orphanet_262842
Partial duplication of the long arm of chromosome 3	Partial duplication of the long arm of chromosome 3	Orphanet	262851	http://www.orpha.net/ORDO/Orphanet_262851
Rudiger syndrome	Rudiger syndrome	Orphanet	3118	http://www.orpha.net/ORDO/Orphanet_3118
Partial duplication of the long arm of chromosome 1	Partial duplication of the long arm of chromosome 1	Orphanet	262833	http://www.orpha.net/ORDO/Orphanet_262833
Partial duplication of the long arm of chromosome 6	Partial duplication of the long arm of chromosome 6	Orphanet	262878	http://www.orpha.net/ORDO/Orphanet_262878
Partial duplication of the long arm of chromosome 7	Partial duplication of the long arm of chromosome 7	Orphanet	262887	http://www.orpha.net/ORDO/Orphanet_262887
Partial duplication of the long arm of chromosome 4	Partial duplication of the long arm of chromosome 4	Orphanet	262860	http://www.orpha.net/ORDO/Orphanet_262860
Brittle hair syndrome, Sabinas type	Brittle hair syndrome, Sabinas type	Orphanet	3123	http://www.orpha.net/ORDO/Orphanet_3123
Partial trisomy of the long arm of chromosome 5	Partial trisomy of the long arm of chromosome 5	Orphanet	262869	http://www.orpha.net/ORDO/Orphanet_262869
Partial trisomy/tetrasomy of the short arm of chromosome 9	Partial trisomy/tetrasomy of the short arm of chromosome 9	Orphanet	262767	http://www.orpha.net/ORDO/Orphanet_262767
Patella aplasia-coxa vara-tarsal synostosis syndrome	Patella aplasia-coxa vara-tarsal synostosis syndrome	Orphanet	3112	http://www.orpha.net/ORDO/Orphanet_3112
Partial duplication of the short arm of chromosome 10	Partial duplication of the short arm of chromosome 10	Orphanet	262776	http://www.orpha.net/ORDO/Orphanet_262776
Rothmund-Thomson syndrome	Rothmund-Thomson syndrome	Orphanet	2909	http://www.orpha.net/ORDO/Orphanet_2909
Partial duplication of the short arm of chromosome 7	Partial duplication of the short arm of chromosome 7	Orphanet	262749	http://www.orpha.net/ORDO/Orphanet_262749
Rombo syndrome	Rombo syndrome	Orphanet	3110	http://www.orpha.net/ORDO/Orphanet_3110
Partial duplication of the short arm of chromosome 8	Partial duplication of the short arm of chromosome 8	Orphanet	262758	http://www.orpha.net/ORDO/Orphanet_262758
Partial duplication of the short arm of chromosome 17	Partial duplication of the short arm of chromosome 17	Orphanet	262803	http://www.orpha.net/ORDO/Orphanet_262803
Ichthyosis-male hypogonadism syndrome	Ichthyosis-male hypogonadism syndrome	Orphanet	431	http://www.orpha.net/ORDO/Orphanet_431
Partial trisomy/tetrasomy of the short arm of chromosome 18	Partial trisomy/tetrasomy of the short arm of chromosome 18	Orphanet	262812	http://www.orpha.net/ORDO/Orphanet_262812
Roussy-Lévy syndrome	Roussy-Lévy syndrome	Orphanet	3115	http://www.orpha.net/ORDO/Orphanet_3115
Partial duplication of the short arm of chromosome 11	Partial duplication of the short arm of chromosome 11	Orphanet	262785	http://www.orpha.net/ORDO/Orphanet_262785
Partial duplication of the short arm of chromosome 16	Partial duplication of the short arm of chromosome 16	Orphanet	262794	http://www.orpha.net/ORDO/Orphanet_262794
Richieri Costa-da Silva syndrome	Richieri Costa-da Silva syndrome	Orphanet	3101	http://www.orpha.net/ORDO/Orphanet_3101
Partial duplication of chromosome 19	Partial duplication of chromosome 19	Orphanet	262687	http://www.orpha.net/ORDO/Orphanet_262687
Richieri Costa-Pereira syndrome	Richieri Costa-Pereira syndrome	Orphanet	3102	http://www.orpha.net/ORDO/Orphanet_3102
Partial trisomy/tetrasomy of chromosome 18	Partial trisomy/tetrasomy of chromosome 18	Orphanet	262682	http://www.orpha.net/ORDO/Orphanet_262682
Robin sequence-oligodactyly syndrome	Robin sequence-oligodactyly syndrome	Orphanet	3104	http://www.orpha.net/ORDO/Orphanet_3104
Partial duplication of the short arm of chromosome 2	Partial duplication of the short arm of chromosome 2	Orphanet	262698	http://www.orpha.net/ORDO/Orphanet_262698
Robinow-like syndrome	Robinow-like syndrome	Orphanet	3105	http://www.orpha.net/ORDO/Orphanet_3105
Partial trisomy of chromosome 20	Partial trisomy of chromosome 20	Orphanet	262692	http://www.orpha.net/ORDO/Orphanet_262692
Robinow-Sorauf syndrome	Robinow-Sorauf syndrome	Orphanet	3106	http://www.orpha.net/ORDO/Orphanet_3106
Partial duplication of the short arm of chromosome 4	Partial duplication of the short arm of chromosome 4	Orphanet	262716	http://www.orpha.net/ORDO/Orphanet_262716
Partial duplication of the short arm of chromosome 3	Partial duplication of the short arm of chromosome 3	Orphanet	262707	http://www.orpha.net/ORDO/Orphanet_262707
Autosomal dominant Robinow syndrome	Autosomal dominant Robinow syndrome	Orphanet	3107	http://www.orpha.net/ORDO/Orphanet_3107
Partial duplication of the short arm of chromosome 6	Partial duplication of the short arm of chromosome 6	Orphanet	262740	http://www.orpha.net/ORDO/Orphanet_262740
Partial trisomy/tetrasomy of the short arm of chromosome 5	Partial trisomy/tetrasomy of the short arm of chromosome 5	Orphanet	262725	http://www.orpha.net/ORDO/Orphanet_262725
Mayer-Rokitansky-Küster-Hauser syndrome	Mayer-Rokitansky-Küster-Hauser syndrome	Orphanet	3109	http://www.orpha.net/ORDO/Orphanet_3109
Partial trisomy/tetrasomy of chromosome 9	Partial trisomy/tetrasomy of chromosome 9	Orphanet	262643	http://www.orpha.net/ORDO/Orphanet_262643
Partial duplication of chromosome 8	Partial duplication of chromosome 8	Orphanet	262638	http://www.orpha.net/ORDO/Orphanet_262638
Autosomal dominant vitreoretinochoroidopathy	Autosomal dominant vitreoretinochoroidopathy	Orphanet	3086	http://www.orpha.net/ORDO/Orphanet_3086
Retinohepatoendocrinologic syndrome	Retinohepatoendocrinologic syndrome	Orphanet	3087	http://www.orpha.net/ORDO/Orphanet_3087
Partial duplication of chromosome 11	Partial duplication of chromosome 11	Orphanet	262653	http://www.orpha.net/ORDO/Orphanet_262653
Revesz syndrome	Revesz syndrome	Orphanet	3088	http://www.orpha.net/ORDO/Orphanet_3088
Partial duplication of chromosome 10	Partial duplication of chromosome 10	Orphanet	262648	http://www.orpha.net/ORDO/Orphanet_262648
Congenital pulmonary venous return anomaly	Congenital pulmonary venous return anomaly	Orphanet	3090	http://www.orpha.net/ORDO/Orphanet_3090
Partial trisomy/tetrasomy of the short arm of chromosome 12	Partial trisomy/tetrasomy of the short arm of chromosome 12	Orphanet	262658	http://www.orpha.net/ORDO/Orphanet_262658
Meacham syndrome	Meacham syndrome	Orphanet	3097	http://www.orpha.net/ORDO/Orphanet_3097
Rhizomelic syndrome, Urbach type	Rhizomelic syndrome, Urbach type	Orphanet	3098	http://www.orpha.net/ORDO/Orphanet_3098
Partial duplication of chromosome 17	Partial duplication of chromosome 17	Orphanet	262677	http://www.orpha.net/ORDO/Orphanet_262677
Partial duplication of chromosome 16	Partial duplication of chromosome 16	Orphanet	262672	http://www.orpha.net/ORDO/Orphanet_262672
Partial deletion of the long arm of chromosome 22	Partial deletion of the long arm of chromosome 22	Orphanet	262182	http://www.orpha.net/ORDO/Orphanet_262182
Partial duplication of chromosome 1	Partial duplication of chromosome 1	Orphanet	262191	http://www.orpha.net/ORDO/Orphanet_262191
Partial duplication of chromosome 2	Partial duplication of chromosome 2	Orphanet	262196	http://www.orpha.net/ORDO/Orphanet_262196
Partial duplication of chromosome 3	Partial duplication of chromosome 3	Orphanet	262201	http://www.orpha.net/ORDO/Orphanet_262201
Severe X-linked intellectual disability, Gustavson type	Severe X-linked intellectual disability, Gustavson type	Orphanet	3078	http://www.orpha.net/ORDO/Orphanet_3078
Partial duplication of chromosome 4	Partial duplication of chromosome 4	Orphanet	262206	http://www.orpha.net/ORDO/Orphanet_262206
X-linked intellectual disability-psychosis-macroorchidism syndrome	X-linked intellectual disability-psychosis-macroorchidism syndrome	Orphanet	3077	http://www.orpha.net/ORDO/Orphanet_3077
Partial trisomy/tetrasomy of chromosome 5	Partial trisomy/tetrasomy of chromosome 5	Orphanet	262211	http://www.orpha.net/ORDO/Orphanet_262211
Partial duplication of chromosome 6	Partial duplication of chromosome 6	Orphanet	262628	http://www.orpha.net/ORDO/Orphanet_262628
Intellectual disability, Wolff type	Intellectual disability, Wolff type	Orphanet	3080	http://www.orpha.net/ORDO/Orphanet_3080
Partial duplication of chromosome 7	Partial duplication of chromosome 7	Orphanet	262633	http://www.orpha.net/ORDO/Orphanet_262633
Intellectual disability, Buenos-Aires type	Intellectual disability, Buenos-Aires type	Orphanet	3079	http://www.orpha.net/ORDO/Orphanet_3079
Partial deletion of the long arm of chromosome 14	Partial deletion of the long arm of chromosome 14	Orphanet	262110	http://www.orpha.net/ORDO/Orphanet_262110
X-linked intellectual disability, Snyder type	X-linked intellectual disability, Snyder type	Orphanet	3063	http://www.orpha.net/ORDO/Orphanet_3063
Partial deletion of the long arm of chromosome 15	Partial deletion of the long arm of chromosome 15	Orphanet	262119	http://www.orpha.net/ORDO/Orphanet_262119
Partial deletion of the long arm of chromosome 16	Partial deletion of the long arm of chromosome 16	Orphanet	262128	http://www.orpha.net/ORDO/Orphanet_262128
X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndrome	X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndrome	Orphanet	3065	http://www.orpha.net/ORDO/Orphanet_3065
Partial deletion of the long arm of chromosome 17	Partial deletion of the long arm of chromosome 17	Orphanet	262137	http://www.orpha.net/ORDO/Orphanet_262137
Partial deletion of the long arm of chromosome 18	Partial deletion of the long arm of chromosome 18	Orphanet	262146	http://www.orpha.net/ORDO/Orphanet_262146
Intellectual disability-myopathy-short stature-endocrine defect syndrome	Intellectual disability-myopathy-short stature-endocrine defect syndrome	Orphanet	3068	http://www.orpha.net/ORDO/Orphanet_3068
Partial deletion of the long arm of chromosome 19	Partial deletion of the long arm of chromosome 19	Orphanet	262155	http://www.orpha.net/ORDO/Orphanet_262155
Partial deletion of the long arm of chromosome 20	Partial deletion of the long arm of chromosome 20	Orphanet	262164	http://www.orpha.net/ORDO/Orphanet_262164
Partial deletion of the long arm of chromosome 21	Partial deletion of the long arm of chromosome 21	Orphanet	262173	http://www.orpha.net/ORDO/Orphanet_262173
Malformation of the neurenteric canal, spinal cord and column	Malformation of the neurenteric canal, spinal cord and column	Orphanet	268843	http://www.orpha.net/ORDO/Orphanet_268843
TARP syndrome	TARP syndrome	Orphanet	2886	http://www.orpha.net/ORDO/Orphanet_2886
Primary tethered cord syndrome	Primary tethered cord syndrome	Orphanet	268861	http://www.orpha.net/ORDO/Orphanet_268861
Piebald trait-neurologic defects syndrome	Piebald trait-neurologic defects syndrome	Orphanet	2885	http://www.orpha.net/ORDO/Orphanet_2885
Leptomyelolipoma	Leptomyelolipoma	Orphanet	268838	http://www.orpha.net/ORDO/Orphanet_268838
Piebaldism	Piebaldism	Orphanet	2884	http://www.orpha.net/ORDO/Orphanet_2884
Cutaneous photosensitivity-lethal colitis syndrome	Cutaneous photosensitivity-lethal colitis syndrome	Orphanet	2881	http://www.orpha.net/ORDO/Orphanet_2881
Lipoma associated with neurospinal dysraphism	Lipoma associated with neurospinal dysraphism	Orphanet	268832	http://www.orpha.net/ORDO/Orphanet_268832
Phocomelia, Schinzel type	Phocomelia, Schinzel type	Orphanet	2879	http://www.orpha.net/ORDO/Orphanet_2879
Lipomyelomeningocele	Lipomyelomeningocele	Orphanet	268835	http://www.orpha.net/ORDO/Orphanet_268835
Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome	Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome	Orphanet	2878	http://www.orpha.net/ORDO/Orphanet_2878
Parietal encephalocele	Parietal encephalocele	Orphanet	268826	http://www.orpha.net/ORDO/Orphanet_268826
Basal encephalocele	Basal encephalocele	Orphanet	268829	http://www.orpha.net/ORDO/Orphanet_268829
Pinsky-Di George-Harley syndrome	Pinsky-Di George-Harley syndrome	Orphanet	2895	http://www.orpha.net/ORDO/Orphanet_2895
Isolated megalencephaly	Isolated megalencephaly	Orphanet	268920	http://www.orpha.net/ORDO/Orphanet_268920
Arnold-Chiari malformation type I	Arnold-Chiari malformation type I	Orphanet	268882	http://www.orpha.net/ORDO/Orphanet_268882
Pilodental dysplasia-refractive errors syndrome	Pilodental dysplasia-refractive errors syndrome	Orphanet	2892	http://www.orpha.net/ORDO/Orphanet_2892
Pili torti-developmental delay-neurological abnormalities syndrome	Pili torti-developmental delay-neurological abnormalities syndrome	Orphanet	2891	http://www.orpha.net/ORDO/Orphanet_2891
Pili torti	Pili torti	Orphanet	2889	http://www.orpha.net/ORDO/Orphanet_2889
Pili torti-onychodysplasia syndrome	Pili torti-onychodysplasia syndrome	Orphanet	2890	http://www.orpha.net/ORDO/Orphanet_2890
Neurenteric cyst	Neurenteric cyst	Orphanet	268865	http://www.orpha.net/ORDO/Orphanet_268865
Pierre Robin syndrome-faciodigital anomaly syndrome	Pierre Robin syndrome-faciodigital anomaly syndrome	Orphanet	2888	http://www.orpha.net/ORDO/Orphanet_2888
Isolated amyelia	Isolated amyelia	Orphanet	268868	http://www.orpha.net/ORDO/Orphanet_268868
Upper thoracic spina bifida cystica	Upper thoracic spina bifida cystica	Orphanet	268770	http://www.orpha.net/ORDO/Orphanet_268770
Short stature-webbed neck-heart disease syndrome	Short stature-webbed neck-heart disease syndrome	Orphanet	2865	http://www.orpha.net/ORDO/Orphanet_2865
Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome	Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome	Orphanet	2866	http://www.orpha.net/ORDO/Orphanet_2866
Cervicothoracic spina bifida cystica	Cervicothoracic spina bifida cystica	Orphanet	268766	http://www.orpha.net/ORDO/Orphanet_268766
Short stature-wormian bones-dextrocardia syndrome	Short stature-wormian bones-dextrocardia syndrome	Orphanet	2863	http://www.orpha.net/ORDO/Orphanet_2863
Cervical spina bifida cystica	Cervical spina bifida cystica	Orphanet	268762	http://www.orpha.net/ORDO/Orphanet_268762
Lumbosacral spina bifida cystica	Lumbosacral spina bifida cystica	Orphanet	268758	http://www.orpha.net/ORDO/Orphanet_268758
Thoracolumbosacral spina bifida cystica	Thoracolumbosacral spina bifida cystica	Orphanet	268752	http://www.orpha.net/ORDO/Orphanet_268752
Total spina bifida cystica	Total spina bifida cystica	Orphanet	268748	http://www.orpha.net/ORDO/Orphanet_268748
Spina bifida cystica	Spina bifida cystica	Orphanet	268744	http://www.orpha.net/ORDO/Orphanet_268744
Upper thoracic spina bifida aperta	Upper thoracic spina bifida aperta	Orphanet	268740	http://www.orpha.net/ORDO/Orphanet_268740
Phakomatosis pigmentovascularis	Phakomatosis pigmentovascularis	Orphanet	2875	http://www.orpha.net/ORDO/Orphanet_2875
Occipital encephalocele	Occipital encephalocele	Orphanet	268823	http://www.orpha.net/ORDO/Orphanet_268823
PHAVER syndrome	PHAVER syndrome	Orphanet	2876	http://www.orpha.net/ORDO/Orphanet_2876
Cranial meningocele	Cranial meningocele	Orphanet	268820	http://www.orpha.net/ORDO/Orphanet_268820
Cephalocele	Cephalocele	Orphanet	268817	http://www.orpha.net/ORDO/Orphanet_268817
Phakomatosis pigmentokeratotica	Phakomatosis pigmentokeratotica	Orphanet	2874	http://www.orpha.net/ORDO/Orphanet_2874
Myelocystocele	Myelocystocele	Orphanet	268813	http://www.orpha.net/ORDO/Orphanet_268813
Posterior meningocele	Posterior meningocele	Orphanet	268810	http://www.orpha.net/ORDO/Orphanet_268810
Pfeiffer-Palm-Teller syndrome	Pfeiffer-Palm-Teller syndrome	Orphanet	2871	http://www.orpha.net/ORDO/Orphanet_2871
Cardiocranial syndrome, Pfeiffer type	Cardiocranial syndrome, Pfeiffer type	Orphanet	2872	http://www.orpha.net/ORDO/Orphanet_2872
Short stature, Brussels type	Short stature, Brussels type	Orphanet	2867	http://www.orpha.net/ORDO/Orphanet_2867
Short stature-valvular heart disease-characteristic facies syndrome	Short stature-valvular heart disease-characteristic facies syndrome	Orphanet	2868	http://www.orpha.net/ORDO/Orphanet_2868
Congenital pericardium anomaly	Congenital pericardium anomaly	Orphanet	2846	http://www.orpha.net/ORDO/Orphanet_2846
Penoscrotal transposition	Penoscrotal transposition	Orphanet	2842	http://www.orpha.net/ORDO/Orphanet_2842
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome	Orphanet	2848	http://www.orpha.net/ORDO/Orphanet_2848
Pericardial and diaphragmatic defect	Pericardial and diaphragmatic defect	Orphanet	2847	http://www.orpha.net/ORDO/Orphanet_2847
Neural tube closure defect	Neural tube closure defect	Orphanet	268357	http://www.orpha.net/ORDO/Orphanet_268357
Renal caliceal diverticuli-deafness syndrome	Renal caliceal diverticuli-deafness syndrome	Orphanet	2838	http://www.orpha.net/ORDO/Orphanet_2838
Hereditary thrombocytopenia with normal platelets	Hereditary thrombocytopenia with normal platelets	Orphanet	268322	http://www.orpha.net/ORDO/Orphanet_268322
Pellagra-like skin rash-neurological manifestations syndrome	Pellagra-like skin rash-neurological manifestations syndrome	Orphanet	2837	http://www.orpha.net/ORDO/Orphanet_2837
Pelvic dysplasia-arthrogryposis of lower limbs syndrome	Pelvic dysplasia-arthrogryposis of lower limbs syndrome	Orphanet	2840	http://www.orpha.net/ORDO/Orphanet_2840
Pelvis-shoulder dysplasia	Pelvis-shoulder dysplasia	Orphanet	2839	http://www.orpha.net/ORDO/Orphanet_2839
Autosomal recessive intermediate Charcot-Marie-Tooth disease	Autosomal recessive intermediate Charcot-Marie-Tooth disease	Orphanet	268337	http://www.orpha.net/ORDO/Orphanet_268337
Thoracolumbosacral spina bifida aperta	Thoracolumbosacral spina bifida aperta	Orphanet	268384	http://www.orpha.net/ORDO/Orphanet_268384
Perrault syndrome	Perrault syndrome	Orphanet	2855	http://www.orpha.net/ORDO/Orphanet_2855
Fuhrmann syndrome	Fuhrmann syndrome	Orphanet	2854	http://www.orpha.net/ORDO/Orphanet_2854
Lumbosacral spina bifida aperta	Lumbosacral spina bifida aperta	Orphanet	268388	http://www.orpha.net/ORDO/Orphanet_268388
Cervical spina bifida aperta	Cervical spina bifida aperta	Orphanet	268392	http://www.orpha.net/ORDO/Orphanet_268392
Peters anomaly	Peters anomaly	Orphanet	708	http://www.orpha.net/ORDO/Orphanet_708
Cervicothoracic spina bifida aperta	Cervicothoracic spina bifida aperta	Orphanet	268397	http://www.orpha.net/ORDO/Orphanet_268397
Open iniencephaly	Open iniencephaly	Orphanet	268363	http://www.orpha.net/ORDO/Orphanet_268363
Closed iniencephaly	Closed iniencephaly	Orphanet	268366	http://www.orpha.net/ORDO/Orphanet_268366
Alopecia-intellectual disability syndrome	Alopecia-intellectual disability syndrome	Orphanet	2850	http://www.orpha.net/ORDO/Orphanet_2850
Serpentine fibula-polycystic kidneys syndrome	Serpentine fibula-polycystic kidneys syndrome	Orphanet	2853	http://www.orpha.net/ORDO/Orphanet_2853
Spina bifida aperta	Spina bifida aperta	Orphanet	268369	http://www.orpha.net/ORDO/Orphanet_268369
Total spina bifida aperta	Total spina bifida aperta	Orphanet	268377	http://www.orpha.net/ORDO/Orphanet_268377
RAS-associated autoimmune leukoproliferative disease	RAS-associated autoimmune leukoproliferative disease	Orphanet	268114	http://www.orpha.net/ORDO/Orphanet_268114
PARC syndrome	PARC syndrome	Orphanet	2825	http://www.orpha.net/ORDO/Orphanet_2825
Spastic paraplegia-precocious puberty syndrome	Spastic paraplegia-precocious puberty syndrome	Orphanet	2826	http://www.orpha.net/ORDO/Orphanet_2826
Intraocular medulloepithelioma	Intraocular medulloepithelioma	Orphanet	268139	http://www.orpha.net/ORDO/Orphanet_268139
Spheroid body myopathy	Spheroid body myopathy	Orphanet	268129	http://www.orpha.net/ORDO/Orphanet_268129
Partington-Anderson syndrome	Partington-Anderson syndrome	Orphanet	2829	http://www.orpha.net/ORDO/Orphanet_2829
Spastic paraplegia-facial-cutaneous lesions syndrome	Spastic paraplegia-facial-cutaneous lesions syndrome	Orphanet	2819	http://www.orpha.net/ORDO/Orphanet_2819
Spastic paraplegia-nephritis-deafness syndrome	Spastic paraplegia-nephritis-deafness syndrome	Orphanet	2820	http://www.orpha.net/ORDO/Orphanet_2820
Spastic paraplegia-neuropathy-poikiloderma syndrome	Spastic paraplegia-neuropathy-poikiloderma syndrome	Orphanet	2821	http://www.orpha.net/ORDO/Orphanet_2821
Autosomal recessive spastic paraplegia type 11	Autosomal recessive spastic paraplegia type 11	Orphanet	2822	http://www.orpha.net/ORDO/Orphanet_2822
Pectus excavatum-macrocephaly-dysplastic nails syndrome	Pectus excavatum-macrocephaly-dysplastic nails syndrome	Orphanet	2835	http://www.orpha.net/ORDO/Orphanet_2835
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	Orphanet	268261	http://www.orpha.net/ORDO/Orphanet_268261
PEHO syndrome	PEHO syndrome	Orphanet	2836	http://www.orpha.net/ORDO/Orphanet_2836
Mycophenolate mofetil embryopathy	Mycophenolate mofetil embryopathy	Orphanet	268249	http://www.orpha.net/ORDO/Orphanet_268249
Complication in hemodialysis	Complication in hemodialysis	Orphanet	268316	http://www.orpha.net/ORDO/Orphanet_268316
Intermediate maple syrup urine disease	Intermediate maple syrup urine disease	Orphanet	268162	http://www.orpha.net/ORDO/Orphanet_268162
Short tarsus-absence of lower eyelashes syndrome	Short tarsus-absence of lower eyelashes syndrome	Orphanet	2832	http://www.orpha.net/ORDO/Orphanet_2832
Classic maple syrup urine disease	Classic maple syrup urine disease	Orphanet	268145	http://www.orpha.net/ORDO/Orphanet_268145
Thiamine-responsive maple syrup urine disease	Thiamine-responsive maple syrup urine disease	Orphanet	268184	http://www.orpha.net/ORDO/Orphanet_268184
Stiff skin syndrome	Stiff skin syndrome	Orphanet	2833	http://www.orpha.net/ORDO/Orphanet_2833
Wrinkly skin syndrome	Wrinkly skin syndrome	Orphanet	2834	http://www.orpha.net/ORDO/Orphanet_2834
Intermittent maple syrup urine disease	Intermittent maple syrup urine disease	Orphanet	268173	http://www.orpha.net/ORDO/Orphanet_268173
Proteus-like syndrome	Proteus-like syndrome	Orphanet	2969	http://www.orpha.net/ORDO/Orphanet_2969
Autosomal dominant prognathism	Autosomal dominant prognathism	Orphanet	2964	http://www.orpha.net/ORDO/Orphanet_2964
De Barsy syndrome	De Barsy syndrome	Orphanet	2962	http://www.orpha.net/ORDO/Orphanet_2962
46,XX disorder of sex development-anorectal anomalies syndrome	46,XX disorder of sex development-anorectal anomalies syndrome	Orphanet	2973	http://www.orpha.net/ORDO/Orphanet_2973
Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome	Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome	Orphanet	2972	http://www.orpha.net/ORDO/Orphanet_2972
Pseudoachondroplasia	Pseudoachondroplasia	Orphanet	750	http://www.orpha.net/ORDO/Orphanet_750
Pseudoleprechaunism syndrome, Patterson type	Pseudoleprechaunism syndrome, Patterson type	Orphanet	2976	http://www.orpha.net/ORDO/Orphanet_2976
46,XX disorder of sex development-skeletal anomalies syndrome	46,XX disorder of sex development-skeletal anomalies syndrome	Orphanet	2975	http://www.orpha.net/ORDO/Orphanet_2975
Acrootoocular syndrome	Acrootoocular syndrome	Orphanet	2980	http://www.orpha.net/ORDO/Orphanet_2980
Chronic intestinal pseudoobstruction	Chronic intestinal pseudoobstruction	Orphanet	2978	http://www.orpha.net/ORDO/Orphanet_2978
Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis	Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis	Orphanet	264973	http://www.orpha.net/ORDO/Orphanet_264973
Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease	Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease	Orphanet	264968	http://www.orpha.net/ORDO/Orphanet_264968
Brachydactyly-long thumb syndrome	Brachydactyly-long thumb syndrome	Orphanet	2946	http://www.orpha.net/ORDO/Orphanet_2946
Renal agenesis, bilateral	Renal agenesis, bilateral	Orphanet	1848	http://www.orpha.net/ORDO/Orphanet_1848
Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease	Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease	Orphanet	264949	http://www.orpha.net/ORDO/Orphanet_264949
Triphalangeal thumb-polysyndactyly syndrome	Triphalangeal thumb-polysyndactyly syndrome	Orphanet	2950	http://www.orpha.net/ORDO/Orphanet_2950
Absent thumb-short stature-immunodeficiency syndrome	Absent thumb-short stature-immunodeficiency syndrome	Orphanet	2951	http://www.orpha.net/ORDO/Orphanet_2951
Genetic interstitial lung disease	Genetic interstitial lung disease	Orphanet	264992	http://www.orpha.net/ORDO/Orphanet_264992
Triphalangeal thumbs-brachyectrodactyly syndrome	Triphalangeal thumbs-brachyectrodactyly syndrome	Orphanet	2947	http://www.orpha.net/ORDO/Orphanet_2947
Exposure-related interstitial lung disease	Exposure-related interstitial lung disease	Orphanet	264984	http://www.orpha.net/ORDO/Orphanet_264984
Drug or radiation exposure-related interstitial lung disease	Drug or radiation exposure-related interstitial lung disease	Orphanet	264978	http://www.orpha.net/ORDO/Orphanet_264978
Acrodysplasia scoliosis	Acrodysplasia scoliosis	Orphanet	2956	http://www.orpha.net/ORDO/Orphanet_2956
Adducted thumbs-arthrogryposis syndrome, Christian type	Adducted thumbs-arthrogryposis syndrome, Christian type	Orphanet	2952	http://www.orpha.net/ORDO/Orphanet_2952
Hutchinson-Gilford progeria syndrome	Hutchinson-Gilford progeria syndrome	Orphanet	740	http://www.orpha.net/ORDO/Orphanet_740
Progeria-short stature-pigmented nevi syndrome	Progeria-short stature-pigmented nevi syndrome	Orphanet	2959	http://www.orpha.net/ORDO/Orphanet_2959
Guttmacher syndrome	Guttmacher syndrome	Orphanet	2957	http://www.orpha.net/ORDO/Orphanet_2957
X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome	X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome	Orphanet	2958	http://www.orpha.net/ORDO/Orphanet_2958
Isolated polycystic liver disease	Isolated polycystic liver disease	Orphanet	2924	http://www.orpha.net/ORDO/Orphanet_2924
Interstitial lung disease specific to infancy	Interstitial lung disease specific to infancy	Orphanet	264694	http://www.orpha.net/ORDO/Orphanet_264694
Secondary interstitial lung disease specific to childhood associated with a systemic disease	Secondary interstitial lung disease specific to childhood associated with a systemic disease	Orphanet	264699	http://www.orpha.net/ORDO/Orphanet_264699
Secondary interstitial lung disease specific to childhood associated with a connective tissue disease	Secondary interstitial lung disease specific to childhood associated with a connective tissue disease	Orphanet	264704	http://www.orpha.net/ORDO/Orphanet_264704
Digital extensor muscle aplasia-polyneuropathy	Digital extensor muscle aplasia-polyneuropathy	Orphanet	2926	http://www.orpha.net/ORDO/Orphanet_2926
Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis	Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis	Orphanet	264709	http://www.orpha.net/ORDO/Orphanet_264709
Secondary interstitial lung disease specific to childhood associated with a granulomatous disease	Secondary interstitial lung disease specific to childhood associated with a granulomatous disease	Orphanet	264714	http://www.orpha.net/ORDO/Orphanet_264714
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome	Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome	Orphanet	2928	http://www.orpha.net/ORDO/Orphanet_2928
Secondary interstitial lung disease specific to childhood associated with a metabolic disease	Secondary interstitial lung disease specific to childhood associated with a metabolic disease	Orphanet	264719	http://www.orpha.net/ORDO/Orphanet_264719
Cronkhite-Canada syndrome	Cronkhite-Canada syndrome	Orphanet	2930	http://www.orpha.net/ORDO/Orphanet_2930
Interstitial lung disease specific to adulthood	Interstitial lung disease specific to adulthood	Orphanet	264735	http://www.orpha.net/ORDO/Orphanet_264735
Primary interstitial lung disease specific to adulthood	Primary interstitial lung disease specific to adulthood	Orphanet	264740	http://www.orpha.net/ORDO/Orphanet_264740
Crossed polysyndactyly	Crossed polysyndactyly	Orphanet	2935	http://www.orpha.net/ORDO/Orphanet_2935
Secondary interstitial lung disease specific to adulthood associated with a systemic disease	Secondary interstitial lung disease specific to adulthood associated with a systemic disease	Orphanet	264745	http://www.orpha.net/ORDO/Orphanet_264745
Polysyndactyly-cardiac malformation syndrome	Polysyndactyly-cardiac malformation syndrome	Orphanet	2934	http://www.orpha.net/ORDO/Orphanet_2934
Interstitial lung disease in childhood and adulthood	Interstitial lung disease in childhood and adulthood	Orphanet	264757	http://www.orpha.net/ORDO/Orphanet_264757
Primary interstitial lung disease in childhood and adulthood	Primary interstitial lung disease in childhood and adulthood	Orphanet	264762	http://www.orpha.net/ORDO/Orphanet_264762
Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder	Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder	Orphanet	264930	http://www.orpha.net/ORDO/Orphanet_264930
Porencephaly-cerebellar hypoplasia-internal malformations syndrome	Porencephaly-cerebellar hypoplasia-internal malformations syndrome	Orphanet	2941	http://www.orpha.net/ORDO/Orphanet_2941
Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder	Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder	Orphanet	264935	http://www.orpha.net/ORDO/Orphanet_264935
Secondary interstitial lung disease in childhood and adulthood	Secondary interstitial lung disease in childhood and adulthood	Orphanet	264944	http://www.orpha.net/ORDO/Orphanet_264944
Porencephaly	Porencephaly	Orphanet	2940	http://www.orpha.net/ORDO/Orphanet_2940
Pitt-Hopkins syndrome	Pitt-Hopkins syndrome	Orphanet	2896	http://www.orpha.net/ORDO/Orphanet_2896
Brachyolmia-amelogenesis imperfecta syndrome	Brachyolmia-amelogenesis imperfecta syndrome	Orphanet	2899	http://www.orpha.net/ORDO/Orphanet_2899
Leri pleonosteosis	Leri pleonosteosis	Orphanet	2900	http://www.orpha.net/ORDO/Orphanet_2900
Partial duplication of the short arm of chromosome 1	Partial duplication of the short arm of chromosome 1	Orphanet	264431	http://www.orpha.net/ORDO/Orphanet_264431
POEMS syndrome	POEMS syndrome	Orphanet	2905	http://www.orpha.net/ORDO/Orphanet_2905
Trisomy 8p	Trisomy 8p	Orphanet	264450	http://www.orpha.net/ORDO/Orphanet_264450
Hereditary acrokeratotic poikiloderma	Hereditary acrokeratotic poikiloderma	Orphanet	2907	http://www.orpha.net/ORDO/Orphanet_2907
Poland syndrome	Poland syndrome	Orphanet	2911	http://www.orpha.net/ORDO/Orphanet_2911
Glycogen storage disease due to liver phosphorylase kinase deficiency	Glycogen storage disease due to liver phosphorylase kinase deficiency	Orphanet	264580	http://www.orpha.net/ORDO/Orphanet_264580
Interstitial lung disease specific to childhood	Interstitial lung disease specific to childhood	Orphanet	264656	http://www.orpha.net/ORDO/Orphanet_264656
Postaxial polydactyly-dental and vertebral anomalies syndrome	Postaxial polydactyly-dental and vertebral anomalies syndrome	Orphanet	2916	http://www.orpha.net/ORDO/Orphanet_2916
Primary interstitial lung disease specific to childhood due to alveolar structure disorder	Primary interstitial lung disease specific to childhood due to alveolar structure disorder	Orphanet	264670	http://www.orpha.net/ORDO/Orphanet_264670
Polydactyly-myopia syndrome	Polydactyly-myopia syndrome	Orphanet	2917	http://www.orpha.net/ORDO/Orphanet_2917
Primary interstitial lung disease specific to childhood	Primary interstitial lung disease specific to childhood	Orphanet	264665	http://www.orpha.net/ORDO/Orphanet_264665
Primary interstitial lung disease specific to childhood due to alveolar vascular disorder	Primary interstitial lung disease specific to childhood due to alveolar vascular disorder	Orphanet	264683	http://www.orpha.net/ORDO/Orphanet_264683
Orofaciodigital syndrome type 5	Orofaciodigital syndrome type 5	Orphanet	2919	http://www.orpha.net/ORDO/Orphanet_2919
Hereditary pulmonary alveolar proteinosis	Hereditary pulmonary alveolar proteinosis	Orphanet	264675	http://www.orpha.net/ORDO/Orphanet_264675
Oliver syndrome	Oliver syndrome	Orphanet	2920	http://www.orpha.net/ORDO/Orphanet_2920
Isolated pulmonary capillaritis	Isolated pulmonary capillaritis	Orphanet	264691	http://www.orpha.net/ORDO/Orphanet_264691
Preaxial polydactyly-colobomata-intellectual disability syndrome	Preaxial polydactyly-colobomata-intellectual disability syndrome	Orphanet	2921	http://www.orpha.net/ORDO/Orphanet_2921
Congenital chylothorax	Congenital chylothorax	Orphanet	264688	http://www.orpha.net/ORDO/Orphanet_264688
Triopia	Triopia	Orphanet	3374	http://www.orpha.net/ORDO/Orphanet_3374
Pulmonary arterial hypertension associated with congenital heart disease	Pulmonary arterial hypertension associated with congenital heart disease	Orphanet	275803	http://www.orpha.net/ORDO/Orphanet_275803
Pulmonary arterial hypertension associated with HIV infection	Pulmonary arterial hypertension associated with HIV infection	Orphanet	275808	http://www.orpha.net/ORDO/Orphanet_275808
Pulmonary arterial hypertension associated with portal hypertension	Pulmonary arterial hypertension associated with portal hypertension	Orphanet	275813	http://www.orpha.net/ORDO/Orphanet_275813
Distal trisomy 19q	Distal trisomy 19q	Orphanet	1717	http://www.orpha.net/ORDO/Orphanet_1717
Trismus-pseudocamptodactyly syndrome	Trismus-pseudocamptodactyly syndrome	Orphanet	3377	http://www.orpha.net/ORDO/Orphanet_3377
Pulmonary arterial hypertension associated with schistosomiasis	Pulmonary arterial hypertension associated with schistosomiasis	Orphanet	275823	http://www.orpha.net/ORDO/Orphanet_275823
Trigonocephaly-bifid nose-acral anomalies syndrome	Trigonocephaly-bifid nose-acral anomalies syndrome	Orphanet	3368	http://www.orpha.net/ORDO/Orphanet_3368
Heritable pulmonary arterial hypertension	Heritable pulmonary arterial hypertension	Orphanet	275777	http://www.orpha.net/ORDO/Orphanet_275777
Drug- or toxin-induced pulmonary arterial hypertension	Drug- or toxin-induced pulmonary arterial hypertension	Orphanet	275786	http://www.orpha.net/ORDO/Orphanet_275786
Pulmonary arterial hypertension associated with another disease	Pulmonary arterial hypertension associated with another disease	Orphanet	275791	http://www.orpha.net/ORDO/Orphanet_275791
Trigonocephaly-short stature-developmental delay syndrome	Trigonocephaly-short stature-developmental delay syndrome	Orphanet	3369	http://www.orpha.net/ORDO/Orphanet_3369
Pulmonary arterial hypertension associated with connective tissue disease	Pulmonary arterial hypertension associated with connective tissue disease	Orphanet	275798	http://www.orpha.net/ORDO/Orphanet_275798
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome	Orphanet	3363	http://www.orpha.net/ORDO/Orphanet_3363
Beta-thalassemia and related diseases	Beta-thalassemia and related diseases	Orphanet	275749	http://www.orpha.net/ORDO/Orphanet_275749
Sickle cell disease and related diseases	Sickle cell disease and related diseases	Orphanet	275752	http://www.orpha.net/ORDO/Orphanet_275752
Lysosomal acid lipase deficiency	Lysosomal acid lipase deficiency	Orphanet	275761	http://www.orpha.net/ORDO/Orphanet_275761
Isolated trigonocephaly	Isolated trigonocephaly	Orphanet	3366	http://www.orpha.net/ORDO/Orphanet_3366
Trigonocephaly-broad thumbs syndrome	Trigonocephaly-broad thumbs syndrome	Orphanet	3365	http://www.orpha.net/ORDO/Orphanet_3365
Idiopathic pulmonary arterial hypertension	Idiopathic pulmonary arterial hypertension	Orphanet	275766	http://www.orpha.net/ORDO/Orphanet_275766
Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	Orphanet	275729	http://www.orpha.net/ORDO/Orphanet_275729
Rare hemorrhagic disorder due to a qualitative platelet defect	Rare hemorrhagic disorder due to a qualitative platelet defect	Orphanet	275736	http://www.orpha.net/ORDO/Orphanet_275736
Trichodysplasia-xeroderma syndrome	Trichodysplasia-xeroderma syndrome	Orphanet	3361	http://www.orpha.net/ORDO/Orphanet_3361
Genetic infertility	Genetic infertility	Orphanet	275742	http://www.orpha.net/ORDO/Orphanet_275742
Alpha-thalassemia and related diseases	Alpha-thalassemia and related diseases	Orphanet	275745	http://www.orpha.net/ORDO/Orphanet_275745
Upington disease	Upington disease	Orphanet	3408	http://www.orpha.net/ORDO/Orphanet_3408
Benign epithelial tumor of salivary glands	Benign epithelial tumor of salivary glands	Orphanet	276148	http://www.orpha.net/ORDO/Orphanet_276148
Urban-Rogers-Meyer syndrome	Urban-Rogers-Meyer syndrome	Orphanet	3409	http://www.orpha.net/ORDO/Orphanet_3409
Malignant epithelial tumor of salivary glands	Malignant epithelial tumor of salivary glands	Orphanet	276145	http://www.orpha.net/ORDO/Orphanet_276145
Multiple endocrine neoplasia	Multiple endocrine neoplasia	Orphanet	276161	http://www.orpha.net/ORDO/Orphanet_276161
VACTERL with hydrocephalus	VACTERL with hydrocephalus	Orphanet	3412	http://www.orpha.net/ORDO/Orphanet_3412
Multiple endocrine neoplasia type 4	Multiple endocrine neoplasia type 4	Orphanet	276152	http://www.orpha.net/ORDO/Orphanet_276152
Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome	Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome	Orphanet	3391	http://www.orpha.net/ORDO/Orphanet_3391
Genetic frontotemporal degeneration with dementia	Genetic frontotemporal degeneration with dementia	Orphanet	276061	http://www.orpha.net/ORDO/Orphanet_276061
Uhl anomaly	Uhl anomaly	Orphanet	3403	http://www.orpha.net/ORDO/Orphanet_3403
Genetic neurodegenerative disease with dementia	Genetic neurodegenerative disease with dementia	Orphanet	276058	http://www.orpha.net/ORDO/Orphanet_276058
Ulbright-Hodes syndrome	Ulbright-Hodes syndrome	Orphanet	3404	http://www.orpha.net/ORDO/Orphanet_3404
Rare tumor of salivary glands	Rare tumor of salivary glands	Orphanet	276142	http://www.orpha.net/ORDO/Orphanet_276142
Bile acid CoA ligase deficiency and defective amidation	Bile acid CoA ligase deficiency and defective amidation	Orphanet	276066	http://www.orpha.net/ORDO/Orphanet_276066
Frontotemporal dementia with motor neuron disease	Frontotemporal dementia with motor neuron disease	Orphanet	275872	http://www.orpha.net/ORDO/Orphanet_275872
Humerus trochlea aplasia	Humerus trochlea aplasia	Orphanet	3383	http://www.orpha.net/ORDO/Orphanet_3383
Truncus arteriosus	Truncus arteriosus	Orphanet	3384	http://www.orpha.net/ORDO/Orphanet_3384
Behavioral variant of frontotemporal dementia	Behavioral variant of frontotemporal dementia	Orphanet	275864	http://www.orpha.net/ORDO/Orphanet_275864
Hemolytic disease of the newborn with Kell alloimmunization	Hemolytic disease of the newborn with Kell alloimmunization	Orphanet	275944	http://www.orpha.net/ORDO/Orphanet_275944
Isolated anterior cervical hypertrichosis	Isolated anterior cervical hypertrichosis	Orphanet	3387	http://www.orpha.net/ORDO/Orphanet_3387
Neural tube defect	Neural tube defect	Orphanet	3388	http://www.orpha.net/ORDO/Orphanet_3388
Hemolytic disease due to fetomaternal alloimmunization	Hemolytic disease due to fetomaternal alloimmunization	Orphanet	275938	http://www.orpha.net/ORDO/Orphanet_275938
Pulmonary hypertension owing to lung disease and/or hypoxia	Pulmonary hypertension owing to lung disease and/or hypoxia	Orphanet	275837	http://www.orpha.net/ORDO/Orphanet_275837
Mosaic trisomy 2	Mosaic trisomy 2	Orphanet	1723	http://www.orpha.net/ORDO/Orphanet_1723
Pulmonary arterial hypertension associated with chronic hemolytic anemia	Pulmonary arterial hypertension associated with chronic hemolytic anemia	Orphanet	275828	http://www.orpha.net/ORDO/Orphanet_275828
Mosaic trisomy 20	Mosaic trisomy 20	Orphanet	1724	http://www.orpha.net/ORDO/Orphanet_1724
Syndrome with pulmonary hypertension as a major feature	Syndrome with pulmonary hypertension as a major feature	Orphanet	275853	http://www.orpha.net/ORDO/Orphanet_275853
Mosaic trisomy 7	Mosaic trisomy 7	Orphanet	1747	http://www.orpha.net/ORDO/Orphanet_1747
Pulmonary hypertension with unclear multifactorial mechanism	Pulmonary hypertension with unclear multifactorial mechanism	Orphanet	275844	http://www.orpha.net/ORDO/Orphanet_275844
Genetic cardiac tumor	Genetic cardiac tumor	Orphanet	271841	http://www.orpha.net/ORDO/Orphanet_271841
Connective tissue dysplasia, Spellacy type	Connective tissue dysplasia, Spellacy type	Orphanet	3333	http://www.orpha.net/ORDO/Orphanet_3333
Genetic soft tissue tumor	Genetic soft tissue tumor	Orphanet	271832	http://www.orpha.net/ORDO/Orphanet_271832
Hypoplastic tibiae-postaxial polydactyly syndrome	Hypoplastic tibiae-postaxial polydactyly syndrome	Orphanet	3332	http://www.orpha.net/ORDO/Orphanet_3332
Genetic digestive tract tumor	Genetic digestive tract tumor	Orphanet	271835	http://www.orpha.net/ORDO/Orphanet_271835
Tibial aplasia-ectrodactyly syndrome	Tibial aplasia-ectrodactyly syndrome	Orphanet	3329	http://www.orpha.net/ORDO/Orphanet_3329
Absent tibia-polydactyly-arachnoid cyst syndrome	Absent tibia-polydactyly-arachnoid cyst syndrome	Orphanet	3328	http://www.orpha.net/ORDO/Orphanet_3328
Thyrocerebrorenal syndrome	Thyrocerebrorenal syndrome	Orphanet	3327	http://www.orpha.net/ORDO/Orphanet_3327
Thymic-renal-anal-lung dysplasia	Thymic-renal-anal-lung dysplasia	Orphanet	3326	http://www.orpha.net/ORDO/Orphanet_3326
Braddock-Carey syndrome	Braddock-Carey syndrome	Orphanet	3323	http://www.orpha.net/ORDO/Orphanet_3323
Hoyeraal-Hreidarsson syndrome	Hoyeraal-Hreidarsson syndrome	Orphanet	3322	http://www.orpha.net/ORDO/Orphanet_3322
Thoracolaryngopelvic dysplasia	Thoracolaryngopelvic dysplasia	Orphanet	3317	http://www.orpha.net/ORDO/Orphanet_3317
Thomas syndrome	Thomas syndrome	Orphanet	3316	http://www.orpha.net/ORDO/Orphanet_3316
Thiemann disease, familial form	Thiemann disease, familial form	Orphanet	3314	http://www.orpha.net/ORDO/Orphanet_3314
Trichoodontoonychial dysplasia	Trichoodontoonychial dysplasia	Orphanet	3355	http://www.orpha.net/ORDO/Orphanet_3355
Preeclampsia	Preeclampsia	Orphanet	275555	http://www.orpha.net/ORDO/Orphanet_275555
L1 syndrome	L1 syndrome	Orphanet	275543	http://www.orpha.net/ORDO/Orphanet_275543
Trichodermodysplasia-dental alterations syndrome	Trichodermodysplasia-dental alterations syndrome	Orphanet	3353	http://www.orpha.net/ORDO/Orphanet_3353
Myostatin-related muscle hypertrophy	Myostatin-related muscle hypertrophy	Orphanet	275534	http://www.orpha.net/ORDO/Orphanet_275534
Dianzani autoimmune lymphoproliferative disease	Dianzani autoimmune lymphoproliferative disease	Orphanet	275523	http://www.orpha.net/ORDO/Orphanet_275523
Trichodental syndrome	Trichodental syndrome	Orphanet	3351	http://www.orpha.net/ORDO/Orphanet_3351
Autoimmune lymphoproliferative syndrome with recurrent viral infections	Autoimmune lymphoproliferative syndrome with recurrent viral infections	Orphanet	275517	http://www.orpha.net/ORDO/Orphanet_275517
Tricho-dento-osseous syndrome	Tricho-dento-osseous syndrome	Orphanet	3352	http://www.orpha.net/ORDO/Orphanet_3352
Treft-Sanborn-Carey syndrome	Treft-Sanborn-Carey syndrome	Orphanet	3349	http://www.orpha.net/ORDO/Orphanet_3349
Tremor-nystagmus-duodenal ulcer syndrome	Tremor-nystagmus-duodenal ulcer syndrome	Orphanet	3350	http://www.orpha.net/ORDO/Orphanet_3350
Weismann-Netter syndrome	Weismann-Netter syndrome	Orphanet	3344	http://www.orpha.net/ORDO/Orphanet_3344
Mounier-Kühn syndrome	Mounier-Kühn syndrome	Orphanet	3347	http://www.orpha.net/ORDO/Orphanet_3347
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome	Torticollis-keloids-cryptorchidism-renal dysplasia syndrome	Orphanet	3341	http://www.orpha.net/ORDO/Orphanet_3341
Rare genetic systemic or rheumatologic disease	Rare genetic systemic or rheumatologic disease	Orphanet	271870	http://www.orpha.net/ORDO/Orphanet_271870
Arterial tortuosity syndrome	Arterial tortuosity syndrome	Orphanet	3342	http://www.orpha.net/ORDO/Orphanet_3342
Toriello-Lacassie-Droste syndrome	Toriello-Lacassie-Droste syndrome	Orphanet	3339	http://www.orpha.net/ORDO/Orphanet_3339
Hereditary ATTR amyloidosis	Hereditary ATTR amyloidosis	Orphanet	271861	http://www.orpha.net/ORDO/Orphanet_271861
Genetic cardiac anomaly	Genetic cardiac anomaly	Orphanet	271853	http://www.orpha.net/ORDO/Orphanet_271853
Tomé-Brunet-Fardeau syndrome	Tomé-Brunet-Fardeau syndrome	Orphanet	3336	http://www.orpha.net/ORDO/Orphanet_3336
Genetic neuroendocrine tumor	Genetic neuroendocrine tumor	Orphanet	271847	http://www.orpha.net/ORDO/Orphanet_271847
Toriello-Carey syndrome	Toriello-Carey syndrome	Orphanet	3338	http://www.orpha.net/ORDO/Orphanet_3338
Genetic urogenital tumor	Genetic urogenital tumor	Orphanet	271844	http://www.orpha.net/ORDO/Orphanet_271844
XK aprosencephaly syndrome	XK aprosencephaly syndrome	Orphanet	3469	http://www.orpha.net/ORDO/Orphanet_3469
Genetic syndrome with a cerebellar malformation as a major feature	Genetic syndrome with a cerebellar malformation as a major feature	Orphanet	269567	http://www.orpha.net/ORDO/Orphanet_269567
Genetic syndrome with a Dandy-Walker malformation as a major feature	Genetic syndrome with a Dandy-Walker malformation as a major feature	Orphanet	269570	http://www.orpha.net/ORDO/Orphanet_269570
Yunis-Varon syndrome	Yunis-Varon syndrome	Orphanet	3472	http://www.orpha.net/ORDO/Orphanet_3472
Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature	Orphanet	269573	http://www.orpha.net/ORDO/Orphanet_269573
Young syndrome	Young syndrome	Orphanet	3471	http://www.orpha.net/ORDO/Orphanet_3471
Congenital amegakaryocytic thrombocytopenia	Congenital amegakaryocytic thrombocytopenia	Orphanet	3319	http://www.orpha.net/ORDO/Orphanet_3319
Zimmermann-Laband syndrome	Zimmermann-Laband syndrome	Orphanet	3473	http://www.orpha.net/ORDO/Orphanet_3473
Wilson-Turner syndrome	Wilson-Turner syndrome	Orphanet	3459	http://www.orpha.net/ORDO/Orphanet_3459
Other syndrome with a central nervous system malformation as a major feature	Other syndrome with a central nervous system malformation as a major feature	Orphanet	269531	http://www.orpha.net/ORDO/Orphanet_269531
Syndrome with a Dandy-Walker malformation as a major feature	Syndrome with a Dandy-Walker malformation as a major feature	Orphanet	269546	http://www.orpha.net/ORDO/Orphanet_269546
Torg-Winchester syndrome	Torg-Winchester syndrome	Orphanet	3460	http://www.orpha.net/ORDO/Orphanet_3460
Genetic non-syndromic central nervous system malformation	Genetic non-syndromic central nervous system malformation	Orphanet	269550	http://www.orpha.net/ORDO/Orphanet_269550
Woodhouse-Sakati syndrome	Woodhouse-Sakati syndrome	Orphanet	3464	http://www.orpha.net/ORDO/Orphanet_3464
Genetic cerebral malformation	Genetic cerebral malformation	Orphanet	269553	http://www.orpha.net/ORDO/Orphanet_269553
Genetic posterior fossa malformation	Genetic posterior fossa malformation	Orphanet	269557	http://www.orpha.net/ORDO/Orphanet_269557
WT limb-blood syndrome	WT limb-blood syndrome	Orphanet	3466	http://www.orpha.net/ORDO/Orphanet_3466
Genetic cerebellar malformation	Genetic cerebellar malformation	Orphanet	269560	http://www.orpha.net/ORDO/Orphanet_269560
Worster-Drought syndrome	Worster-Drought syndrome	Orphanet	3465	http://www.orpha.net/ORDO/Orphanet_3465
Genetic syndrome with a central nervous system malformation as a major feature	Genetic syndrome with a central nervous system malformation as a major feature	Orphanet	269564	http://www.orpha.net/ORDO/Orphanet_269564
Oromandibular-limb hypogenesis syndrome	Oromandibular-limb hypogenesis syndrome	Orphanet	2749	http://www.orpha.net/ORDO/Orphanet_2749
Baraitser-Winter cerebrofrontofacial syndrome	Baraitser-Winter cerebrofrontofacial syndrome	Orphanet	2995	http://www.orpha.net/ORDO/Orphanet_2995
Radiculomegaly of canine teeth- congenital cataract	Radiculomegaly of canine teeth- congenital cataract	Orphanet	3013	http://www.orpha.net/ORDO/Orphanet_3013
Arthrogryposis-ectodermal dysplasia syndrome	Arthrogryposis-ectodermal dysplasia syndrome	Orphanet	3200	http://www.orpha.net/ORDO/Orphanet_3200
Symbrachydactyly of hands and feet	Symbrachydactyly of hands and feet	Orphanet	1570	http://www.orpha.net/ORDO/Orphanet_1570
Sweet syndrome	Sweet syndrome	Orphanet	3243	http://www.orpha.net/ORDO/Orphanet_3243
Acromelic frontonasal dysplasia	Acromelic frontonasal dysplasia	Orphanet	1827	http://www.orpha.net/ORDO/Orphanet_1827
Kozlowski-Brown-Hardwick syndrome	Kozlowski-Brown-Hardwick syndrome	Orphanet	2352	http://www.orpha.net/ORDO/Orphanet_2352
X-linked intellectual disability-epilepsy syndrome	X-linked intellectual disability-epilepsy syndrome	Orphanet	2076	http://www.orpha.net/ORDO/Orphanet_2076
Isolated focal cortical dysplasia type Ib	Isolated focal cortical dysplasia type Ib	Orphanet	268980	http://www.orpha.net/ORDO/Orphanet_268980
Isolated focal cortical dysplasia type Ic	Isolated focal cortical dysplasia type Ic	Orphanet	268987	http://www.orpha.net/ORDO/Orphanet_268987
Velo-facial-skeletal syndrome	Velo-facial-skeletal syndrome	Orphanet	3424	http://www.orpha.net/ORDO/Orphanet_3424
Vasquez-Hurst-Sotos syndrome	Vasquez-Hurst-Sotos syndrome	Orphanet	3423	http://www.orpha.net/ORDO/Orphanet_3423
Isolated focal cortical dysplasia type Ia	Isolated focal cortical dysplasia type Ia	Orphanet	268973	http://www.orpha.net/ORDO/Orphanet_268973
Isolated focal cortical dysplasia type IIb	Isolated focal cortical dysplasia type IIb	Orphanet	269008	http://www.orpha.net/ORDO/Orphanet_269008
Microcephaly-brachydactyly-kyphoscoliosis syndrome	Microcephaly-brachydactyly-kyphoscoliosis syndrome	Orphanet	3433	http://www.orpha.net/ORDO/Orphanet_3433
Encephaloclastic disorder	Encephaloclastic disorder	Orphanet	269190	http://www.orpha.net/ORDO/Orphanet_269190
Isolated focal cortical dysplasia type II	Isolated focal cortical dysplasia type II	Orphanet	268994	http://www.orpha.net/ORDO/Orphanet_268994
Verloove Vanhorick-Brubakk syndrome	Verloove Vanhorick-Brubakk syndrome	Orphanet	3429	http://www.orpha.net/ORDO/Orphanet_3429
Isolated focal cortical dysplasia type IIa	Isolated focal cortical dysplasia type IIa	Orphanet	269001	http://www.orpha.net/ORDO/Orphanet_269001
Van den Ende-Gupta syndrome	Van den Ende-Gupta syndrome	Orphanet	2460	http://www.orpha.net/ORDO/Orphanet_2460
Bilateral polymicrogyria	Bilateral polymicrogyria	Orphanet	268940	http://www.orpha.net/ORDO/Orphanet_268940
Unilateral polymicrogyria	Unilateral polymicrogyria	Orphanet	268943	http://www.orpha.net/ORDO/Orphanet_268943
Hyperostosis corticalis generalisata	Hyperostosis corticalis generalisata	Orphanet	3416	http://www.orpha.net/ORDO/Orphanet_3416
NON RARE IN EUROPE: Bicuspid aortic valve	NON RARE IN EUROPE: Bicuspid aortic valve	Orphanet	1244	http://www.orpha.net/ORDO/Orphanet_1244
Midline cerebral malformation	Midline cerebral malformation	Orphanet	268926	http://www.orpha.net/ORDO/Orphanet_268926
Isolated arhinencephaly	Isolated arhinencephaly	Orphanet	268936	http://www.orpha.net/ORDO/Orphanet_268936
Cerebroretinal vasculopathy	Cerebroretinal vasculopathy	Orphanet	3421	http://www.orpha.net/ORDO/Orphanet_3421
Isolated focal cortical dysplasia type I	Isolated focal cortical dysplasia type I	Orphanet	268961	http://www.orpha.net/ORDO/Orphanet_268961
Unilateral focal polymicrogyria	Unilateral focal polymicrogyria	Orphanet	268947	http://www.orpha.net/ORDO/Orphanet_268947
Van den Bosch syndrome	Van den Bosch syndrome	Orphanet	3417	http://www.orpha.net/ORDO/Orphanet_3417
Cerebral cortical dysplasia	Cerebral cortical dysplasia	Orphanet	268950	http://www.orpha.net/ORDO/Orphanet_268950
Weissenbacher-Zweymuller syndrome	Weissenbacher-Zweymuller syndrome	Orphanet	3450	http://www.orpha.net/ORDO/Orphanet_3450
Pontine tegmental cap dysplasia	Pontine tegmental cap dysplasia	Orphanet	269229	http://www.orpha.net/ORDO/Orphanet_269229
Autoimmune polyendocrinopathy type 1	Autoimmune polyendocrinopathy type 1	Orphanet	3453	http://www.orpha.net/ORDO/Orphanet_3453
Global cerebellar malformation	Global cerebellar malformation	Orphanet	269224	http://www.orpha.net/ORDO/Orphanet_269224
Weaver-Williams syndrome	Weaver-Williams syndrome	Orphanet	3448	http://www.orpha.net/ORDO/Orphanet_3448
Isolated bilateral hemispheric cerebellar hypoplasia	Isolated bilateral hemispheric cerebellar hypoplasia	Orphanet	269221	http://www.orpha.net/ORDO/Orphanet_269221
Weill-Marchesani syndrome	Weill-Marchesani syndrome	Orphanet	3449	http://www.orpha.net/ORDO/Orphanet_3449
Isolated unilateral hemispheric cerebellar hypoplasia	Isolated unilateral hemispheric cerebellar hypoplasia	Orphanet	269218	http://www.orpha.net/ORDO/Orphanet_269218
Wildervanck syndrome	Wildervanck syndrome	Orphanet	3456	http://www.orpha.net/ORDO/Orphanet_3456
Syndrome with microcephaly as a major feature	Syndrome with microcephaly as a major feature	Orphanet	269528	http://www.orpha.net/ORDO/Orphanet_269528
Syndrome with a cerebellar malformation as a major feature	Syndrome with a cerebellar malformation as a major feature	Orphanet	269523	http://www.orpha.net/ORDO/Orphanet_269523
Congenital non-communicating hydrocephalus	Congenital non-communicating hydrocephalus	Orphanet	269510	http://www.orpha.net/ORDO/Orphanet_269510
Intellectual disability-developmental delay-contractures syndrome	Intellectual disability-developmental delay-contractures syndrome	Orphanet	3454	http://www.orpha.net/ORDO/Orphanet_3454
Wiedemann-Rautenstrauch syndrome	Wiedemann-Rautenstrauch syndrome	Orphanet	3455	http://www.orpha.net/ORDO/Orphanet_3455
Congenital communicating hydrocephalus	Congenital communicating hydrocephalus	Orphanet	269505	http://www.orpha.net/ORDO/Orphanet_269505
Isolated cerebellar vermis agenesis	Isolated cerebellar vermis agenesis	Orphanet	269203	http://www.orpha.net/ORDO/Orphanet_269203
Biliary tract malformation-renal failure syndrome	Biliary tract malformation-renal failure syndrome	Orphanet	3438	http://www.orpha.net/ORDO/Orphanet_3438
Glioependymal/ependymal cyst	Glioependymal/ependymal cyst	Orphanet	269197	http://www.orpha.net/ORDO/Orphanet_269197
MMEP syndrome	MMEP syndrome	Orphanet	3434	http://www.orpha.net/ORDO/Orphanet_3434
Central nervous system cystic malformation	Central nervous system cystic malformation	Orphanet	269194	http://www.orpha.net/ORDO/Orphanet_269194
Isolated Dandy-Walker malformation without hydrocephalus	Isolated Dandy-Walker malformation without hydrocephalus	Orphanet	269215	http://www.orpha.net/ORDO/Orphanet_269215
Weaver-like syndrome	Weaver-like syndrome	Orphanet	3446	http://www.orpha.net/ORDO/Orphanet_3446
Isolated Dandy-Walker malformation with hydrocephalus	Isolated Dandy-Walker malformation with hydrocephalus	Orphanet	269212	http://www.orpha.net/ORDO/Orphanet_269212
Isolated partial cerebellar vermis agenesis	Isolated partial cerebellar vermis agenesis	Orphanet	269209	http://www.orpha.net/ORDO/Orphanet_269209
Isolated total cerebellar vermis agenesis	Isolated total cerebellar vermis agenesis	Orphanet	269206	http://www.orpha.net/ORDO/Orphanet_269206
Spondyloperipheral dysplasia-short ulna syndrome	Spondyloperipheral dysplasia-short ulna syndrome	Orphanet	1856	http://www.orpha.net/ORDO/Orphanet_1856
Autoimmune pancreatitis type 2	Autoimmune pancreatitis type 2	Orphanet	280315	http://www.orpha.net/ORDO/Orphanet_280315
Sprengel deformity	Sprengel deformity	Orphanet	3181	http://www.orpha.net/ORDO/Orphanet_3181
Autoimmune pancreatitis type 1	Autoimmune pancreatitis type 1	Orphanet	280302	http://www.orpha.net/ORDO/Orphanet_280302
Alpha-dystroglycan-related  limb-girdle muscular dystrophy R16	Alpha-dystroglycan-related  limb-girdle muscular dystrophy R16	Orphanet	280333	http://www.orpha.net/ORDO/Orphanet_280333
Distal monosomy 12p	Distal monosomy 12p	Orphanet	280325	http://www.orpha.net/ORDO/Orphanet_280325
Pelizaeus-Merzbacher-like disease due to AIMP1 mutation	Pelizaeus-Merzbacher-like disease due to AIMP1 mutation	Orphanet	280293	http://www.orpha.net/ORDO/Orphanet_280293
Pelizaeus-Merzbacher-like disease due to HSPD1 mutation	Pelizaeus-Merzbacher-like disease due to HSPD1 mutation	Orphanet	280288	http://www.orpha.net/ORDO/Orphanet_280288
Rare pediatric vasculitis	Rare pediatric vasculitis	Orphanet	280369	http://www.orpha.net/ORDO/Orphanet_280369
Corneodermatoosseous syndrome	Corneodermatoosseous syndrome	Orphanet	3194	http://www.orpha.net/ORDO/Orphanet_3194
Sternal malformation-vascular dysplasia syndrome	Sternal malformation-vascular dysplasia syndrome	Orphanet	3195	http://www.orpha.net/ORDO/Orphanet_3195
Autosomal semi-dominant severe lipodystrophic laminopathy	Autosomal semi-dominant severe lipodystrophic laminopathy	Orphanet	280365	http://www.orpha.net/ORDO/Orphanet_280365
Erythropoietic uroporphyria associated with myeloid malignancy	Erythropoietic uroporphyria associated with myeloid malignancy	Orphanet	280379	http://www.orpha.net/ORDO/Orphanet_280379
Hereditary hyperekplexia	Hereditary hyperekplexia	Orphanet	3197	http://www.orpha.net/ORDO/Orphanet_3197
Stimmler syndrome	Stimmler syndrome	Orphanet	3199	http://www.orpha.net/ORDO/Orphanet_3199
Rare pediatric systemic disease	Rare pediatric systemic disease	Orphanet	280373	http://www.orpha.net/ORDO/Orphanet_280373
Steatocystoma multiplex-natal teeth syndrome	Steatocystoma multiplex-natal teeth syndrome	Orphanet	3184	http://www.orpha.net/ORDO/Orphanet_3184
Rare systemic or rheumatological disease of childhood	Rare systemic or rheumatological disease of childhood	Orphanet	280342	http://www.orpha.net/ORDO/Orphanet_280342
Holoprosencephaly-radial heart renal anomalies syndrome	Holoprosencephaly-radial heart renal anomalies syndrome	Orphanet	3186	http://www.orpha.net/ORDO/Orphanet_3186
Subaortic stenosis-short stature syndrome	Subaortic stenosis-short stature syndrome	Orphanet	3191	http://www.orpha.net/ORDO/Orphanet_3191
Supravalvular aortic stenosis	Supravalvular aortic stenosis	Orphanet	3193	http://www.orpha.net/ORDO/Orphanet_3193
PLIN1-related familial partial lipodystrophy	PLIN1-related familial partial lipodystrophy	Orphanet	280356	http://www.orpha.net/ORDO/Orphanet_280356
Deaf blind hypopigmentation syndrome, Yemenite type	Deaf blind hypopigmentation syndrome, Yemenite type	Orphanet	3214	http://www.orpha.net/ORDO/Orphanet_3214
Inherited human prion disease	Inherited human prion disease	Orphanet	280400	http://www.orpha.net/ORDO/Orphanet_280400
Familial omphalocele syndrome with facial dysmorphism	Familial omphalocele syndrome with facial dysmorphism	Orphanet	280403	http://www.orpha.net/ORDO/Orphanet_280403
Deafness-opticoacoustic nerve atrophy-dementia syndrome	Deafness-opticoacoustic nerve atrophy-dementia syndrome	Orphanet	3213	http://www.orpha.net/ORDO/Orphanet_3213
Familial steroid-resistant nephrotic syndrome with sensorineural deafness	Familial steroid-resistant nephrotic syndrome with sensorineural deafness	Orphanet	280406	http://www.orpha.net/ORDO/Orphanet_280406
Summitt syndrome	Summitt syndrome	Orphanet	3210	http://www.orpha.net/ORDO/Orphanet_3210
Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome	Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome	Orphanet	3201	http://www.orpha.net/ORDO/Orphanet_3201
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	Orphanet	280384	http://www.orpha.net/ORDO/Orphanet_280384
Autosomal dominant optic atrophy and congenital deafness	Autosomal dominant optic atrophy and congenital deafness	Orphanet	3212	http://www.orpha.net/ORDO/Orphanet_3212
Familial Alzheimer-like prion disease	Familial Alzheimer-like prion disease	Orphanet	280397	http://www.orpha.net/ORDO/Orphanet_280397
Nestor-Guillermo progeria syndrome	Nestor-Guillermo progeria syndrome	Orphanet	280576	http://www.orpha.net/ORDO/Orphanet_280576
Deafness-enamel hypoplasia-nail defects syndrome	Deafness-enamel hypoplasia-nail defects syndrome	Orphanet	3220	http://www.orpha.net/ORDO/Orphanet_3220
Fountain syndrome	Fountain syndrome	Orphanet	3219	http://www.orpha.net/ORDO/Orphanet_3219
Phosphoribosylpyrophosphate synthetase superactivity	Phosphoribosylpyrophosphate synthetase superactivity	Orphanet	3222	http://www.orpha.net/ORDO/Orphanet_3222
Chondrodysplasia with joint dislocations, gPAPP type	Chondrodysplasia with joint dislocations, gPAPP type	Orphanet	280586	http://www.orpha.net/ORDO/Orphanet_280586
Generalized resistance to thyroid hormone	Generalized resistance to thyroid hormone	Orphanet	3221	http://www.orpha.net/ORDO/Orphanet_3221
Deafness-small bowel diverticulosis-neuropathy syndrome	Deafness-small bowel diverticulosis-neuropathy syndrome	Orphanet	3217	http://www.orpha.net/ORDO/Orphanet_3217
Fatal infantile hypertonic myofibrillar myopathy	Fatal infantile hypertonic myofibrillar myopathy	Orphanet	280553	http://www.orpha.net/ORDO/Orphanet_280553
Warsaw breakage syndrome	Warsaw breakage syndrome	Orphanet	280558	http://www.orpha.net/ORDO/Orphanet_280558
Conductive deafness-malformed external ear syndrome	Conductive deafness-malformed external ear syndrome	Orphanet	3216	http://www.orpha.net/ORDO/Orphanet_3216
Deafness-epiphyseal dysplasia-short stature syndrome	Deafness-epiphyseal dysplasia-short stature syndrome	Orphanet	3218	http://www.orpha.net/ORDO/Orphanet_3218
Calciphylaxis cutis	Calciphylaxis cutis	Orphanet	280065	http://www.orpha.net/ORDO/Orphanet_280065
Nijmegen breakage syndrome	Nijmegen breakage syndrome	Orphanet	647	http://www.orpha.net/ORDO/Orphanet_647
Calciphylaxis	Calciphylaxis	Orphanet	280062	http://www.orpha.net/ORDO/Orphanet_280062
Postorgasmic illness syndrome	Postorgasmic illness syndrome	Orphanet	279947	http://www.orpha.net/ORDO/Orphanet_279947
NON RARE IN EUROPE: Adolescent idiopathic scoliosis	NON RARE IN EUROPE: Adolescent idiopathic scoliosis	Orphanet	3153	http://www.orpha.net/ORDO/Orphanet_3153
Hereditary neutrophilia	Hereditary neutrophilia	Orphanet	279943	http://www.orpha.net/ORDO/Orphanet_279943
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency	Orphanet	279934	http://www.orpha.net/ORDO/Orphanet_279934
Sclerosteosis	Sclerosteosis	Orphanet	3152	http://www.orpha.net/ORDO/Orphanet_3152
Paraneoplastic uveitis	Paraneoplastic uveitis	Orphanet	279928	http://www.orpha.net/ORDO/Orphanet_279928
Infectious panuveitis	Infectious panuveitis	Orphanet	279925	http://www.orpha.net/ORDO/Orphanet_279925
Infectious anterior uveitis	Infectious anterior uveitis	Orphanet	279922	http://www.orpha.net/ORDO/Orphanet_279922
Severe combined immunodeficiency due to LCK deficiency	Severe combined immunodeficiency due to LCK deficiency	Orphanet	280142	http://www.orpha.net/ORDO/Orphanet_280142
Omphalocele syndrome, Shprintzen-Goldberg type	Omphalocele syndrome, Shprintzen-Goldberg type	Orphanet	3164	http://www.orpha.net/ORDO/Orphanet_3164
Sillence syndrome	Sillence syndrome	Orphanet	3168	http://www.orpha.net/ORDO/Orphanet_3168
Complement component 3 deficiency	Complement component 3 deficiency	Orphanet	280133	http://www.orpha.net/ORDO/Orphanet_280133
SHORT syndrome	SHORT syndrome	Orphanet	3163	http://www.orpha.net/ORDO/Orphanet_3163
NON RARE IN EUROPE: Paget disease of bone	NON RARE IN EUROPE: Paget disease of bone	Orphanet	280110	http://www.orpha.net/ORDO/Orphanet_280110
Atrial septal defect-atrioventricular conduction defects syndrome	Atrial septal defect-atrioventricular conduction defects syndrome	Orphanet	1479	http://www.orpha.net/ORDO/Orphanet_1479
Senior-Loken syndrome	Senior-Loken syndrome	Orphanet	3156	http://www.orpha.net/ORDO/Orphanet_3156
ALG11-CDG	ALG11-CDG	Orphanet	280071	http://www.orpha.net/ORDO/Orphanet_280071
Visceral calciphylaxis	Visceral calciphylaxis	Orphanet	280068	http://www.orpha.net/ORDO/Orphanet_280068
Septo-optic dysplasia spectrum	Septo-optic dysplasia spectrum	Orphanet	3157	http://www.orpha.net/ORDO/Orphanet_3157
Spondylocamptodactyly syndrome	Spondylocamptodactyly syndrome	Orphanet	3180	http://www.orpha.net/ORDO/Orphanet_3180
Pelizaeus-Merzbacher disease, connatal form	Pelizaeus-Merzbacher disease, connatal form	Orphanet	280210	http://www.orpha.net/ORDO/Orphanet_280210
Pelizaeus-Merzbacher disease, classic form	Pelizaeus-Merzbacher disease, classic form	Orphanet	280219	http://www.orpha.net/ORDO/Orphanet_280219
Microform holoprosencephaly	Microform holoprosencephaly	Orphanet	280200	http://www.orpha.net/ORDO/Orphanet_280200
Spinocerebellar degeneration-corneal dystrophy syndrome	Spinocerebellar degeneration-corneal dystrophy syndrome	Orphanet	3177	http://www.orpha.net/ORDO/Orphanet_3177
Laryngotracheoesophageal cleft type 0	Laryngotracheoesophageal cleft type 0	Orphanet	280205	http://www.orpha.net/ORDO/Orphanet_280205
X-linked spasticity-intellectual disability-epilepsy syndrome	X-linked spasticity-intellectual disability-epilepsy syndrome	Orphanet	3175	http://www.orpha.net/ORDO/Orphanet_3175
Septopreoptic holoprosencephaly	Septopreoptic holoprosencephaly	Orphanet	280195	http://www.orpha.net/ORDO/Orphanet_280195
Eyebrow duplication-syndactyly syndrome	Eyebrow duplication-syndactyly syndrome	Orphanet	3172	http://www.orpha.net/ORDO/Orphanet_3172
Methylmalonic aciduria due to transcobalamin receptor defect	Methylmalonic aciduria due to transcobalamin receptor defect	Orphanet	280183	http://www.orpha.net/ORDO/Orphanet_280183
Pelizaeus-Merzbacher-like disease due to GJC2 mutation	Pelizaeus-Merzbacher-like disease due to GJC2 mutation	Orphanet	280282	http://www.orpha.net/ORDO/Orphanet_280282
Pelizaeus-Merzbacher-like disease	Pelizaeus-Merzbacher-like disease	Orphanet	280270	http://www.orpha.net/ORDO/Orphanet_280270
Null syndrome	Null syndrome	Orphanet	280234	http://www.orpha.net/ORDO/Orphanet_280234
Spondyloenchondrodysplasia	Spondyloenchondrodysplasia	Orphanet	1855	http://www.orpha.net/ORDO/Orphanet_1855
Pelizaeus-Merzbacher disease, transitional form	Pelizaeus-Merzbacher disease, transitional form	Orphanet	280224	http://www.orpha.net/ORDO/Orphanet_280224
Autosomal dominant spondylocostal dysostosis	Autosomal dominant spondylocostal dysostosis	Orphanet	1797	http://www.orpha.net/ORDO/Orphanet_1797
Pelizaeus-Merzbacher disease in female carriers	Pelizaeus-Merzbacher disease in female carriers	Orphanet	280229	http://www.orpha.net/ORDO/Orphanet_280229
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	Orphanet	276580	http://www.orpha.net/ORDO/Orphanet_276580
Cenani-Lenz syndrome	Cenani-Lenz syndrome	Orphanet	3258	http://www.orpha.net/ORDO/Orphanet_3258
Autosomal dominant hyperinsulinism due to SUR1 deficiency	Autosomal dominant hyperinsulinism due to SUR1 deficiency	Orphanet	276575	http://www.orpha.net/ORDO/Orphanet_276575
Dobrow syndrome	Dobrow syndrome	Orphanet	3262	http://www.orpha.net/ORDO/Orphanet_3262
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency	Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency	Orphanet	276598	http://www.orpha.net/ORDO/Orphanet_276598
Diazoxide-resistant hyperinsulinism	Diazoxide-resistant hyperinsulinism	Orphanet	276585	http://www.orpha.net/ORDO/Orphanet_276585
Non-insulinoma pancreatogenous hypoglycemia syndrome	Non-insulinoma pancreatogenous hypoglycemia syndrome	Orphanet	276608	http://www.orpha.net/ORDO/Orphanet_276608
Humero-radial synostosis	Humero-radial synostosis	Orphanet	3265	http://www.orpha.net/ORDO/Orphanet_3265
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency	Orphanet	276603	http://www.orpha.net/ORDO/Orphanet_276603
Humero-radio-ulnar synostosis	Humero-radio-ulnar synostosis	Orphanet	3266	http://www.orpha.net/ORDO/Orphanet_3266
Familial lambdoid synostosis	Familial lambdoid synostosis	Orphanet	3267	http://www.orpha.net/ORDO/Orphanet_3267
Sporadic pheochromocytoma/secreting paraganglioma	Sporadic pheochromocytoma/secreting paraganglioma	Orphanet	276621	http://www.orpha.net/ORDO/Orphanet_276621
Radioulnar synostosis-microcephaly-scoliosis syndrome	Radioulnar synostosis-microcephaly-scoliosis syndrome	Orphanet	3268	http://www.orpha.net/ORDO/Orphanet_3268
Symptomatic form of Coffin-Lowry syndrome in female carriers	Symptomatic form of Coffin-Lowry syndrome in female carriers	Orphanet	276630	http://www.orpha.net/ORDO/Orphanet_276630
Radioulnar synostosis-developmental delay-hypotonia syndrome	Radioulnar synostosis-developmental delay-hypotonia syndrome	Orphanet	3270	http://www.orpha.net/ORDO/Orphanet_3270
Granulomatous arthritis of childhood	Granulomatous arthritis of childhood	Orphanet	3274	http://www.orpha.net/ORDO/Orphanet_3274
Spondylocarpotarsal synostosis	Spondylocarpotarsal synostosis	Orphanet	3275	http://www.orpha.net/ORDO/Orphanet_3275
Apolipoprotein A-I deficiency	Apolipoprotein A-I deficiency	Orphanet	425	http://www.orpha.net/ORDO/Orphanet_425
NON RARE IN EUROPE: Taurodontism	NON RARE IN EUROPE: Taurodontism	Orphanet	3289	http://www.orpha.net/ORDO/Orphanet_3289
Teebi-Shaltout syndrome	Teebi-Shaltout syndrome	Orphanet	3291	http://www.orpha.net/ORDO/Orphanet_3291
Telecanthus-hypertelorism-strabismus-pes cavus syndrome	Telecanthus-hypertelorism-strabismus-pes cavus syndrome	Orphanet	3293	http://www.orpha.net/ORDO/Orphanet_3293
Tel Hashomer camptodactyly syndrome	Tel Hashomer camptodactyly syndrome	Orphanet	3292	http://www.orpha.net/ORDO/Orphanet_3292
Spasmus nutans	Spasmus nutans	Orphanet	279882	http://www.orpha.net/ORDO/Orphanet_279882
Extensor tendons of finger anomalies	Extensor tendons of finger anomalies	Orphanet	3294	http://www.orpha.net/ORDO/Orphanet_3294
Acute endophthalmitis	Acute endophthalmitis	Orphanet	279888	http://www.orpha.net/ORDO/Orphanet_279888
Chronic endophthalmitis	Chronic endophthalmitis	Orphanet	279891	http://www.orpha.net/ORDO/Orphanet_279891
Toxic maculopathy due to antimalarial drugs	Toxic maculopathy due to antimalarial drugs	Orphanet	279894	http://www.orpha.net/ORDO/Orphanet_279894
Tetraamelia-multiple malformations syndrome	Tetraamelia-multiple malformations syndrome	Orphanet	3301	http://www.orpha.net/ORDO/Orphanet_3301
Primary oculocerebral lymphoma	Primary oculocerebral lymphoma	Orphanet	279897	http://www.orpha.net/ORDO/Orphanet_279897
Primary intraocular lymphoma	Primary intraocular lymphoma	Orphanet	279904	http://www.orpha.net/ORDO/Orphanet_279904
Primary organ-specific lymphoma	Primary organ-specific lymphoma	Orphanet	279911	http://www.orpha.net/ORDO/Orphanet_279911
Fallot complex-intellectual disability-growth delay syndrome	Fallot complex-intellectual disability-growth delay syndrome	Orphanet	3304	http://www.orpha.net/ORDO/Orphanet_3304
Thalidomide embryopathy	Thalidomide embryopathy	Orphanet	3312	http://www.orpha.net/ORDO/Orphanet_3312
Intermediate uveitis	Intermediate uveitis	Orphanet	279914	http://www.orpha.net/ORDO/Orphanet_279914
Infectious posterior uveitis	Infectious posterior uveitis	Orphanet	279919	http://www.orpha.net/ORDO/Orphanet_279919
Spinocerebellar ataxia type 36	Spinocerebellar ataxia type 36	Orphanet	276198	http://www.orpha.net/ORDO/Orphanet_276198
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome	Hearing loss-familial salivary gland insensitivity to aldosterone syndrome	Orphanet	3225	http://www.orpha.net/ORDO/Orphanet_3225
Spinocerebellar ataxia type 35	Spinocerebellar ataxia type 35	Orphanet	276193	http://www.orpha.net/ORDO/Orphanet_276193
Deafness-lymphedema-leukemia syndrome	Deafness-lymphedema-leukemia syndrome	Orphanet	3226	http://www.orpha.net/ORDO/Orphanet_3226
Spinocerebellar ataxia type 32	Spinocerebellar ataxia type 32	Orphanet	276183	http://www.orpha.net/ORDO/Orphanet_276183
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome	Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome	Orphanet	3224	http://www.orpha.net/ORDO/Orphanet_3224
Idiopathic recurrent stupor	Idiopathic recurrent stupor	Orphanet	276174	http://www.orpha.net/ORDO/Orphanet_276174
Machado-Joseph disease type 1	Machado-Joseph disease type 1	Orphanet	276238	http://www.orpha.net/ORDO/Orphanet_276238
Non-syndromic male infertility due to sperm motility disorder	Non-syndromic male infertility due to sperm motility disorder	Orphanet	276234	http://www.orpha.net/ORDO/Orphanet_276234
Mucopolysaccharidosis type 6, slowly progressing	Mucopolysaccharidosis type 6, slowly progressing	Orphanet	276223	http://www.orpha.net/ORDO/Orphanet_276223
Mucopolysaccharidosis type 6, rapidly progressing	Mucopolysaccharidosis type 6, rapidly progressing	Orphanet	276212	http://www.orpha.net/ORDO/Orphanet_276212
Deafness-oligodontia syndrome	Deafness-oligodontia syndrome	Orphanet	3230	http://www.orpha.net/ORDO/Orphanet_3230
Deafness-onychodystrophy syndrome	Deafness-onychodystrophy syndrome	Orphanet	3231	http://www.orpha.net/ORDO/Orphanet_3231
Machado-Joseph disease type 3	Machado-Joseph disease type 3	Orphanet	276244	http://www.orpha.net/ORDO/Orphanet_276244
Machado-Joseph disease type 2	Machado-Joseph disease type 2	Orphanet	276241	http://www.orpha.net/ORDO/Orphanet_276241
Progressive deafness with stapes fixation	Progressive deafness with stapes fixation	Orphanet	3235	http://www.orpha.net/ORDO/Orphanet_3235
Conductive deafness-ptosis-skeletal anomalies syndrome	Conductive deafness-ptosis-skeletal anomalies syndrome	Orphanet	3236	http://www.orpha.net/ORDO/Orphanet_3236
Deafness-ear malformation-facial palsy syndrome	Deafness-ear malformation-facial palsy syndrome	Orphanet	3232	http://www.orpha.net/ORDO/Orphanet_3232
Cochleosaccular degeneration-cataract syndrome	Cochleosaccular degeneration-cataract syndrome	Orphanet	3233	http://www.orpha.net/ORDO/Orphanet_3233
Deafness-craniofacial syndrome	Deafness-craniofacial syndrome	Orphanet	3241	http://www.orpha.net/ORDO/Orphanet_3241
Hemihyperplasia-multiple lipomatosis syndrome	Hemihyperplasia-multiple lipomatosis syndrome	Orphanet	276280	http://www.orpha.net/ORDO/Orphanet_276280
Familial multinodular goiter	Familial multinodular goiter	Orphanet	276399	http://www.orpha.net/ORDO/Orphanet_276399
Deafness-vitiligo-achalasia syndrome	Deafness-vitiligo-achalasia syndrome	Orphanet	3239	http://www.orpha.net/ORDO/Orphanet_3239
Cardiospondylocarpofacial syndrome	Cardiospondylocarpofacial syndrome	Orphanet	3238	http://www.orpha.net/ORDO/Orphanet_3238
NON RARE IN EUROPE: Familial dysalbuminemic hyperthyroxinemia	NON RARE IN EUROPE: Familial dysalbuminemic hyperthyroxinemia	Orphanet	276271	http://www.orpha.net/ORDO/Orphanet_276271
Multiple synostoses syndrome	Multiple synostoses syndrome	Orphanet	3237	http://www.orpha.net/ORDO/Orphanet_3237
Symphalangism with multiple anomalies of hands and feet	Symphalangism with multiple anomalies of hands and feet	Orphanet	3246	http://www.orpha.net/ORDO/Orphanet_3246
10q22.3q23.3 microdeletion syndrome	10q22.3q23.3 microdeletion syndrome	Orphanet	276413	http://www.orpha.net/ORDO/Orphanet_276413
Limbic encephalitis with caspr2 antibodies	Limbic encephalitis with caspr2 antibodies	Orphanet	276402	http://www.orpha.net/ORDO/Orphanet_276402
Renpenning syndrome	Renpenning syndrome	Orphanet	3242	http://www.orpha.net/ORDO/Orphanet_3242
Hyperbiliverdinemia	Hyperbiliverdinemia	Orphanet	276405	http://www.orpha.net/ORDO/Orphanet_276405
Proximal symphalangism	Proximal symphalangism	Orphanet	3250	http://www.orpha.net/ORDO/Orphanet_3250
Distal symphalangism	Distal symphalangism	Orphanet	3248	http://www.orpha.net/ORDO/Orphanet_3248
10q22.3q23.3 microduplication syndrome	10q22.3q23.3 microduplication syndrome	Orphanet	276422	http://www.orpha.net/ORDO/Orphanet_276422
Hypnic headache	Hypnic headache	Orphanet	276429	http://www.orpha.net/ORDO/Orphanet_276429
Familial hyperinsulinism	Familial hyperinsulinism	Orphanet	276525	http://www.orpha.net/ORDO/Orphanet_276525
Filippi syndrome	Filippi syndrome	Orphanet	3255	http://www.orpha.net/ORDO/Orphanet_3255
Hyperinsulinism due to UCP2 deficiency	Hyperinsulinism due to UCP2 deficiency	Orphanet	276556	http://www.orpha.net/ORDO/Orphanet_276556
Ogden syndrome	Ogden syndrome	Orphanet	276432	http://www.orpha.net/ORDO/Orphanet_276432
Cleft lip/palate-ectodermal dysplasia syndrome	Cleft lip/palate-ectodermal dysplasia syndrome	Orphanet	3253	http://www.orpha.net/ORDO/Orphanet_3253
Lower motor neuron syndrome with late-adult onset	Lower motor neuron syndrome with late-adult onset	Orphanet	276435	http://www.orpha.net/ORDO/Orphanet_276435
Combined immunodeficiency due to ZAP70 deficiency	Combined immunodeficiency due to ZAP70 deficiency	Orphanet	911	http://www.orpha.net/ORDO/Orphanet_911
Heparin-induced thrombocytopenia	Heparin-induced thrombocytopenia	Orphanet	3325	http://www.orpha.net/ORDO/Orphanet_3325
Mitochondrial trifunctional protein deficiency	Mitochondrial trifunctional protein deficiency	Orphanet	746	http://www.orpha.net/ORDO/Orphanet_746
Malonic aciduria	Malonic aciduria	Orphanet	943	http://www.orpha.net/ORDO/Orphanet_943
Hereditary methemoglobinemia	Hereditary methemoglobinemia	Orphanet	621	http://www.orpha.net/ORDO/Orphanet_621
NON RARE IN EUROPE: Cluster headache	NON RARE IN EUROPE: Cluster headache	Orphanet	1002	http://www.orpha.net/ORDO/Orphanet_1002
Glycogen storage disease due to hepatic glycogen synthase deficiency	Glycogen storage disease due to hepatic glycogen synthase deficiency	Orphanet	2089	http://www.orpha.net/ORDO/Orphanet_2089
Dysbetalipoproteinemia	Dysbetalipoproteinemia	Orphanet	412	http://www.orpha.net/ORDO/Orphanet_412
Severe hereditary thrombophilia due to congenital protein S deficiency	Severe hereditary thrombophilia due to congenital protein S deficiency	Orphanet	743	http://www.orpha.net/ORDO/Orphanet_743
Familial hyperthyroidism due to mutations in TSH receptor	Familial hyperthyroidism due to mutations in TSH receptor	Orphanet	424	http://www.orpha.net/ORDO/Orphanet_424
Congenital factor II deficiency	Congenital factor II deficiency	Orphanet	325	http://www.orpha.net/ORDO/Orphanet_325
Hyperimmunoglobulinemia D with periodic fever	Hyperimmunoglobulinemia D with periodic fever	Orphanet	343	http://www.orpha.net/ORDO/Orphanet_343
Immunodeficiency by defective expression of MHC class II	Immunodeficiency by defective expression of MHC class II	Orphanet	572	http://www.orpha.net/ORDO/Orphanet_572
Familial thrombomodulin anomalies	Familial thrombomodulin anomalies	Orphanet	3324	http://www.orpha.net/ORDO/Orphanet_3324
Herpes simplex virus encephalitis	Herpes simplex virus encephalitis	Orphanet	1930	http://www.orpha.net/ORDO/Orphanet_1930
Systemic primary carnitine deficiency	Systemic primary carnitine deficiency	Orphanet	158	http://www.orpha.net/ORDO/Orphanet_158
Syndromic microphthalmia-anophthalmia-coloboma	Syndromic microphthalmia-anophthalmia-coloboma	Orphanet	202948	http://www.orpha.net/ORDO/Orphanet_202948
Anomaly of puberty or/and menstrual cycle of genetic origin	Anomaly of puberty or/and menstrual cycle of genetic origin	Orphanet	202940	http://www.orpha.net/ORDO/Orphanet_202940
Essential fructosuria	Essential fructosuria	Orphanet	2056	http://www.orpha.net/ORDO/Orphanet_2056
Infantile Krabbe disease	Infantile Krabbe disease	Orphanet	206436	http://www.orpha.net/ORDO/Orphanet_206436
Sneddon syndrome	Sneddon syndrome	Orphanet	820	http://www.orpha.net/ORDO/Orphanet_820
Hypoxanthine-guanine phosphoribosyltransferase deficiency	Hypoxanthine-guanine phosphoribosyltransferase deficiency	Orphanet	206428	http://www.orpha.net/ORDO/Orphanet_206428
Rolandic epilepsy	Rolandic epilepsy	Orphanet	1945	http://www.orpha.net/ORDO/Orphanet_1945
Succinyl-CoA:3-ketoacid CoA transferase deficiency	Succinyl-CoA:3-ketoacid CoA transferase deficiency	Orphanet	832	http://www.orpha.net/ORDO/Orphanet_832
3-methylcrotonyl-CoA carboxylase deficiency	3-methylcrotonyl-CoA carboxylase deficiency	Orphanet	6	http://www.orpha.net/ORDO/Orphanet_6
3-hydroxy-3-methylglutaric aciduria	3-hydroxy-3-methylglutaric aciduria	Orphanet	20	http://www.orpha.net/ORDO/Orphanet_20
Hemolytic anemia due to diphosphoglycerate mutase deficiency	Hemolytic anemia due to diphosphoglycerate mutase deficiency	Orphanet	714	http://www.orpha.net/ORDO/Orphanet_714
Hemolytic anemia due to glucophosphate isomerase deficiency	Hemolytic anemia due to glucophosphate isomerase deficiency	Orphanet	712	http://www.orpha.net/ORDO/Orphanet_712
Rhizomelic dysplasia, Patterson-Lowry type	Rhizomelic dysplasia, Patterson-Lowry type	Orphanet	2831	http://www.orpha.net/ORDO/Orphanet_2831
Arachnodactyly-abnormal ossification-intellectual disability syndrome	Arachnodactyly-abnormal ossification-intellectual disability syndrome	Orphanet	1129	http://www.orpha.net/ORDO/Orphanet_1129
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers	Orphanet	206546	http://www.orpha.net/ORDO/Orphanet_206546
Cataract-deafness-hypogonadism syndrome	Cataract-deafness-hypogonadism syndrome	Orphanet	1383	http://www.orpha.net/ORDO/Orphanet_1383
Malignant non-dysgerminomatous germ cell tumor of ovary	Malignant non-dysgerminomatous germ cell tumor of ovary	Orphanet	206538	http://www.orpha.net/ORDO/Orphanet_206538
Fukutin-related  limb-girdle muscular dystrophy R13	Fukutin-related  limb-girdle muscular dystrophy R13	Orphanet	206554	http://www.orpha.net/ORDO/Orphanet_206554
Craniomicromelic syndrome	Craniomicromelic syndrome	Orphanet	1524	http://www.orpha.net/ORDO/Orphanet_1524
Anoctamin-5-related  limb-girdle muscular dystrophy R12	Anoctamin-5-related  limb-girdle muscular dystrophy R12	Orphanet	206549	http://www.orpha.net/ORDO/Orphanet_206549
Caudal appendage-deafness syndrome	Caudal appendage-deafness syndrome	Orphanet	1123	http://www.orpha.net/ORDO/Orphanet_1123
POMGNT1-related  limb-girdle muscular dystrophy R15	POMGNT1-related  limb-girdle muscular dystrophy R15	Orphanet	206564	http://www.orpha.net/ORDO/Orphanet_206564
POMT2-related  limb-girdle muscular dystrophy R14	POMT2-related  limb-girdle muscular dystrophy R14	Orphanet	206559	http://www.orpha.net/ORDO/Orphanet_206559
Overlap myositis	Overlap myositis	Orphanet	206572	http://www.orpha.net/ORDO/Orphanet_206572
Syngnathia-cleft palate syndrome	Syngnathia-cleft palate syndrome	Orphanet	3263	http://www.orpha.net/ORDO/Orphanet_3263
Immune-mediated necrotizing myopathy	Immune-mediated necrotizing myopathy	Orphanet	206569	http://www.orpha.net/ORDO/Orphanet_206569
Autosomal recessive lower motor neuron disease with childhood onset	Autosomal recessive lower motor neuron disease with childhood onset	Orphanet	206580	http://www.orpha.net/ORDO/Orphanet_206580
Rippling muscle disease with myasthenia gravis	Rippling muscle disease with myasthenia gravis	Orphanet	206575	http://www.orpha.net/ORDO/Orphanet_206575
Late-infantile/juvenile Krabbe disease	Late-infantile/juvenile Krabbe disease	Orphanet	206443	http://www.orpha.net/ORDO/Orphanet_206443
Von Voss-Cherstvoy syndrome	Von Voss-Cherstvoy syndrome	Orphanet	3439	http://www.orpha.net/ORDO/Orphanet_3439
Adult Krabbe disease	Adult Krabbe disease	Orphanet	206448	http://www.orpha.net/ORDO/Orphanet_206448
Cystadenoma of childhood	Cystadenoma of childhood	Orphanet	206470	http://www.orpha.net/ORDO/Orphanet_206470
Spinal atrophy-ophthalmoplegia-pyramidal syndrome	Spinal atrophy-ophthalmoplegia-pyramidal syndrome	Orphanet	1217	http://www.orpha.net/ORDO/Orphanet_1217
Borderline epithelial tumor of ovary	Borderline epithelial tumor of ovary	Orphanet	206473	http://www.orpha.net/ORDO/Orphanet_206473
Hypomyelination neuropathy-arthrogryposis syndrome	Hypomyelination neuropathy-arthrogryposis syndrome	Orphanet	2680	http://www.orpha.net/ORDO/Orphanet_2680
Gonadoblastoma	Gonadoblastoma	Orphanet	206484	http://www.orpha.net/ORDO/Orphanet_206484
Diprosopus	Diprosopus	Orphanet	1681	http://www.orpha.net/ORDO/Orphanet_1681
Malignant germ cell tumor of the vagina	Malignant germ cell tumor of the vagina	Orphanet	206489	http://www.orpha.net/ORDO/Orphanet_206489
Vulvovaginal rhabdomyosarcoma	Vulvovaginal rhabdomyosarcoma	Orphanet	206492	http://www.orpha.net/ORDO/Orphanet_206492
Müllerian derivatives-lymphangiectasia-polydactyly syndrome	Müllerian derivatives-lymphangiectasia-polydactyly syndrome	Orphanet	1655	http://www.orpha.net/ORDO/Orphanet_1655
Bulbospinal muscular atrophy	Bulbospinal muscular atrophy	Orphanet	206701	http://www.orpha.net/ORDO/Orphanet_206701
Laron syndrome	Laron syndrome	Orphanet	633	http://www.orpha.net/ORDO/Orphanet_633
Inclusion myopathy	Inclusion myopathy	Orphanet	206662	http://www.orpha.net/ORDO/Orphanet_206662
Kallmann syndrome	Kallmann syndrome	Orphanet	478	http://www.orpha.net/ORDO/Orphanet_478
Generalized bulbospinal muscular atrophy	Generalized bulbospinal muscular atrophy	Orphanet	206710	http://www.orpha.net/ORDO/Orphanet_206710
Bulbospinal muscular atrophy of adult	Bulbospinal muscular atrophy of adult	Orphanet	206707	http://www.orpha.net/ORDO/Orphanet_206707
Hereditary spherocytosis	Hereditary spherocytosis	Orphanet	822	http://www.orpha.net/ORDO/Orphanet_822
Xeroderma pigmentosum	Xeroderma pigmentosum	Orphanet	910	http://www.orpha.net/ORDO/Orphanet_910
Bulbospinal muscular atrophy of childhood	Bulbospinal muscular atrophy of childhood	Orphanet	206704	http://www.orpha.net/ORDO/Orphanet_206704
Familial aortic dissection	Familial aortic dissection	Orphanet	229	http://www.orpha.net/ORDO/Orphanet_229
Mitochondrial myopathy	Mitochondrial myopathy	Orphanet	206966	http://www.orpha.net/ORDO/Orphanet_206966
NON RARE IN EUROPE: Age-related macular degeneration	NON RARE IN EUROPE: Age-related macular degeneration	Orphanet	279	http://www.orpha.net/ORDO/Orphanet_279
Muscular glycogenosis	Muscular glycogenosis	Orphanet	206959	http://www.orpha.net/ORDO/Orphanet_206959
X-linked non-syndromic intellectual disability	X-linked non-syndromic intellectual disability	Orphanet	777	http://www.orpha.net/ORDO/Orphanet_777
Muscular lipidosis	Muscular lipidosis	Orphanet	206953	http://www.orpha.net/ORDO/Orphanet_206953
Hemolytic anemia due to red cell pyruvate kinase deficiency	Hemolytic anemia due to red cell pyruvate kinase deficiency	Orphanet	766	http://www.orpha.net/ORDO/Orphanet_766
Periodic paralysis	Periodic paralysis	Orphanet	206976	http://www.orpha.net/ORDO/Orphanet_206976
Hyperlipoproteinemia type 1	Hyperlipoproteinemia type 1	Orphanet	411	http://www.orpha.net/ORDO/Orphanet_411
Vitamin B12-responsive methylmalonic acidemia	Vitamin B12-responsive methylmalonic acidemia	Orphanet	28	http://www.orpha.net/ORDO/Orphanet_28
Congenital myotonia	Congenital myotonia	Orphanet	206973	http://www.orpha.net/ORDO/Orphanet_206973
Myotonic syndrome	Myotonic syndrome	Orphanet	206970	http://www.orpha.net/ORDO/Orphanet_206970
Subacute inflammatory demyelinating polyneuropathy	Subacute inflammatory demyelinating polyneuropathy	Orphanet	206594	http://www.orpha.net/ORDO/Orphanet_206594
Isolated asymptomatic elevation of creatine phosphokinase	Isolated asymptomatic elevation of creatine phosphokinase	Orphanet	206599	http://www.orpha.net/ORDO/Orphanet_206599
Stüve-Wiedemann syndrome	Stüve-Wiedemann syndrome	Orphanet	3206	http://www.orpha.net/ORDO/Orphanet_3206
Adult polyglucosan body disease	Adult polyglucosan body disease	Orphanet	206583	http://www.orpha.net/ORDO/Orphanet_206583
Neurolymphomatosis	Neurolymphomatosis	Orphanet	206586	http://www.orpha.net/ORDO/Orphanet_206586
Infectious disease with peripheral neuropathy	Infectious disease with peripheral neuropathy	Orphanet	206613	http://www.orpha.net/ORDO/Orphanet_206613
Okamoto syndrome	Okamoto syndrome	Orphanet	2729	http://www.orpha.net/ORDO/Orphanet_2729
Acquired skeletal muscle disease	Acquired skeletal muscle disease	Orphanet	206638	http://www.orpha.net/ORDO/Orphanet_206638
Leber congenital amaurosis	Leber congenital amaurosis	Orphanet	65	http://www.orpha.net/ORDO/Orphanet_65
Progressive muscular dystrophy	Progressive muscular dystrophy	Orphanet	206644	http://www.orpha.net/ORDO/Orphanet_206644
Genetic skeletal muscle disease	Genetic skeletal muscle disease	Orphanet	206634	http://www.orpha.net/ORDO/Orphanet_206634
Autosomal recessive distal myopathy	Autosomal recessive distal myopathy	Orphanet	206653	http://www.orpha.net/ORDO/Orphanet_206653
Multiple osteochondromas	Multiple osteochondromas	Orphanet	321	http://www.orpha.net/ORDO/Orphanet_321
Non-dystrophic myopathy	Non-dystrophic myopathy	Orphanet	206656	http://www.orpha.net/ORDO/Orphanet_206656
Lynch syndrome	Lynch syndrome	Orphanet	144	http://www.orpha.net/ORDO/Orphanet_144
Myotonic dystrophy	Myotonic dystrophy	Orphanet	206647	http://www.orpha.net/ORDO/Orphanet_206647
Autosomal dominant distal myopathy	Autosomal dominant distal myopathy	Orphanet	206650	http://www.orpha.net/ORDO/Orphanet_206650
Bardet-Biedl syndrome	Bardet-Biedl syndrome	Orphanet	110	http://www.orpha.net/ORDO/Orphanet_110
Qualitative or quantitative defects of dystrophin	Qualitative or quantitative defects of dystrophin	Orphanet	207085	http://www.orpha.net/ORDO/Orphanet_207085
Orofaciodigital syndrome type 10	Orofaciodigital syndrome type 10	Orphanet	2756	http://www.orpha.net/ORDO/Orphanet_2756
Qualitative or quantitative defects of collagen 6	Qualitative or quantitative defects of collagen 6	Orphanet	207090	http://www.orpha.net/ORDO/Orphanet_207090
Atypical Rett syndrome	Atypical Rett syndrome	Orphanet	3095	http://www.orpha.net/ORDO/Orphanet_3095
Laminin subunit alpha 2-related muscular dystrophy	Laminin subunit alpha 2-related muscular dystrophy	Orphanet	207094	http://www.orpha.net/ORDO/Orphanet_207094
Kallmann syndrome-heart disease syndrome	Kallmann syndrome-heart disease syndrome	Orphanet	2326	http://www.orpha.net/ORDO/Orphanet_2326
Qualitative or quantitative defects of integrin alpha-7	Qualitative or quantitative defects of integrin alpha-7	Orphanet	207098	http://www.orpha.net/ORDO/Orphanet_207098
NON RARE IN EUROPE: Sjögren syndrome	NON RARE IN EUROPE: Sjögren syndrome	Orphanet	378	http://www.orpha.net/ORDO/Orphanet_378
Qualitative or quantitative defects of gamma-sarcoglycan	Qualitative or quantitative defects of gamma-sarcoglycan	Orphanet	207067	http://www.orpha.net/ORDO/Orphanet_207067
Arachnodactyly-intellectual disability-dysmorphism syndrome	Arachnodactyly-intellectual disability-dysmorphism syndrome	Orphanet	1130	http://www.orpha.net/ORDO/Orphanet_1130
Qualitative or quantitative defects of delta-sarcoglycan	Qualitative or quantitative defects of delta-sarcoglycan	Orphanet	207070	http://www.orpha.net/ORDO/Orphanet_207070
Qualitative or quantitative defects of dysferlin	Qualitative or quantitative defects of dysferlin	Orphanet	207073	http://www.orpha.net/ORDO/Orphanet_207073
Qualitative or quantitative defects of caveolin-3	Qualitative or quantitative defects of caveolin-3	Orphanet	207078	http://www.orpha.net/ORDO/Orphanet_207078
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome	White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome	Orphanet	3207	http://www.orpha.net/ORDO/Orphanet_3207
Qualitative or quantitative protein defects in neuromuscular diseases	Qualitative or quantitative protein defects in neuromuscular diseases	Orphanet	207049	http://www.orpha.net/ORDO/Orphanet_207049
Succinic acidemia	Succinic acidemia	Orphanet	936	http://www.orpha.net/ORDO/Orphanet_936
Qualitative or quantitative defects of sarcoglycan	Qualitative or quantitative defects of sarcoglycan	Orphanet	207052	http://www.orpha.net/ORDO/Orphanet_207052
Qualitative or quantitative defects of alpha-sarcoglycan	Qualitative or quantitative defects of alpha-sarcoglycan	Orphanet	207060	http://www.orpha.net/ORDO/Orphanet_207060
Qualitative or quantitative defects of beta-sarcoglycan	Qualitative or quantitative defects of beta-sarcoglycan	Orphanet	207063	http://www.orpha.net/ORDO/Orphanet_207063
Hypopituitarism-microphthalmia syndrome	Hypopituitarism-microphthalmia syndrome	Orphanet	2244	http://www.orpha.net/ORDO/Orphanet_2244
Acute and subacute inflammatory demyelinating polyneuropathy	Acute and subacute inflammatory demyelinating polyneuropathy	Orphanet	207038	http://www.orpha.net/ORDO/Orphanet_207038
Fryns-Smeets-Thiry syndrome	Fryns-Smeets-Thiry syndrome	Orphanet	2058	http://www.orpha.net/ORDO/Orphanet_2058
Microgastria-limb reduction defect syndrome	Microgastria-limb reduction defect syndrome	Orphanet	2538	http://www.orpha.net/ORDO/Orphanet_2538
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome	Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome	Orphanet	1192	http://www.orpha.net/ORDO/Orphanet_1192
Malignant lymphoma with peripheral neuropathy	Malignant lymphoma with peripheral neuropathy	Orphanet	207046	http://www.orpha.net/ORDO/Orphanet_207046
Rare hereditary systemic disease with peripheral neuropathy	Rare hereditary systemic disease with peripheral neuropathy	Orphanet	207021	http://www.orpha.net/ORDO/Orphanet_207021
Progressive non-infectious anterior vertebral fusion	Progressive non-infectious anterior vertebral fusion	Orphanet	2062	http://www.orpha.net/ORDO/Orphanet_2062
Rare hereditary metabolic disease with peripheral neuropathy	Rare hereditary metabolic disease with peripheral neuropathy	Orphanet	207018	http://www.orpha.net/ORDO/Orphanet_207018
Cleft palate-short stature-vertebral anomalies syndrome	Cleft palate-short stature-vertebral anomalies syndrome	Orphanet	2015	http://www.orpha.net/ORDO/Orphanet_2015
Cerebellar ataxia with peripheral neuropathy	Cerebellar ataxia with peripheral neuropathy	Orphanet	207028	http://www.orpha.net/ORDO/Orphanet_207028
Macrocephaly-short stature-paraplegia syndrome	Macrocephaly-short stature-paraplegia syndrome	Orphanet	2427	http://www.orpha.net/ORDO/Orphanet_2427
Rare hereditary neurologic disease with peripheral neuropathy	Rare hereditary neurologic disease with peripheral neuropathy	Orphanet	207025	http://www.orpha.net/ORDO/Orphanet_207025
X-linked intellectual disability-plagiocephaly syndrome	X-linked intellectual disability-plagiocephaly syndrome	Orphanet	2898	http://www.orpha.net/ORDO/Orphanet_2898
Colobomatous-microphthalmia-heart disease-hearing loss syndrome	Colobomatous-microphthalmia-heart disease-hearing loss syndrome	Orphanet	1474	http://www.orpha.net/ORDO/Orphanet_1474
Rare hereditary disease with peripheral neuropathy	Rare hereditary disease with peripheral neuropathy	Orphanet	207015	http://www.orpha.net/ORDO/Orphanet_207015
Spinal muscular atrophy associated with central nervous system anomaly	Spinal muscular atrophy associated with central nervous system anomaly	Orphanet	207012	http://www.orpha.net/ORDO/Orphanet_207012
Parasitic myositis	Parasitic myositis	Orphanet	206997	http://www.orpha.net/ORDO/Orphanet_206997
Bacterial myositis	Bacterial myositis	Orphanet	206994	http://www.orpha.net/ORDO/Orphanet_206994
Fungal myositis	Fungal myositis	Orphanet	207000	http://www.orpha.net/ORDO/Orphanet_207000
Muscular pseudohypertrophy-hypothyroidism syndrome	Muscular pseudohypertrophy-hypothyroidism syndrome	Orphanet	2349	http://www.orpha.net/ORDO/Orphanet_2349
Lethal recessive chondrodysplasia	Lethal recessive chondrodysplasia	Orphanet	1423	http://www.orpha.net/ORDO/Orphanet_1423
Hydrocephalus-obesity-hypogonadism syndrome	Hydrocephalus-obesity-hypogonadism syndrome	Orphanet	2183	http://www.orpha.net/ORDO/Orphanet_2183
Muscular tumor	Muscular tumor	Orphanet	206982	http://www.orpha.net/ORDO/Orphanet_206982
Viral myositis	Viral myositis	Orphanet	206991	http://www.orpha.net/ORDO/Orphanet_206991
Infectious, fungal or parasitic myopathy	Infectious, fungal or parasitic myopathy	Orphanet	206988	http://www.orpha.net/ORDO/Orphanet_206988
Systemic inflammatory disease associated with an acquired peripheral neuropathy	Systemic inflammatory disease associated with an acquired peripheral neuropathy	Orphanet	209007	http://www.orpha.net/ORDO/Orphanet_209007
Peripheral neuropathy associated with monoclonal gammopathy	Peripheral neuropathy associated with monoclonal gammopathy	Orphanet	209010	http://www.orpha.net/ORDO/Orphanet_209010
Aplasia cutis congenita	Aplasia cutis congenita	Orphanet	1114	http://www.orpha.net/ORDO/Orphanet_1114
Paraneoplastic sensory ganglionopathy	Paraneoplastic sensory ganglionopathy	Orphanet	208999	http://www.orpha.net/ORDO/Orphanet_208999
Radio-ulnar synostosis-retinal pigment abnormalities syndrome	Radio-ulnar synostosis-retinal pigment abnormalities syndrome	Orphanet	3271	http://www.orpha.net/ORDO/Orphanet_3271
Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy	Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy	Orphanet	209004	http://www.orpha.net/ORDO/Orphanet_209004
Non-paraneoplastic sensory ganglionopathy	Non-paraneoplastic sensory ganglionopathy	Orphanet	208989	http://www.orpha.net/ORDO/Orphanet_208989
Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies	Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies	Orphanet	208981	http://www.orpha.net/ORDO/Orphanet_208981
Acquired sensory ganglionopathy	Acquired sensory ganglionopathy	Orphanet	208984	http://www.orpha.net/ORDO/Orphanet_208984
Ectrodactyly-spina bifida-cardiopathy syndrome	Ectrodactyly-spina bifida-cardiopathy syndrome	Orphanet	1894	http://www.orpha.net/ORDO/Orphanet_1894
Chronic acquired demyelinating polyneuropathy	Chronic acquired demyelinating polyneuropathy	Orphanet	208974	http://www.orpha.net/ORDO/Orphanet_208974
Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome	Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome	Orphanet	1101	http://www.orpha.net/ORDO/Orphanet_1101
Chronic polyradiculoneuropathy	Chronic polyradiculoneuropathy	Orphanet	208978	http://www.orpha.net/ORDO/Orphanet_208978
Hydrocephaly-low insertion umbilicus syndrome	Hydrocephaly-low insertion umbilicus syndrome	Orphanet	2184	http://www.orpha.net/ORDO/Orphanet_2184
Dysmorphism-cleft palate-loose skin syndrome	Dysmorphism-cleft palate-loose skin syndrome	Orphanet	1779	http://www.orpha.net/ORDO/Orphanet_1779
Cryopyrin-associated periodic syndrome	Cryopyrin-associated periodic syndrome	Orphanet	208650	http://www.orpha.net/ORDO/Orphanet_208650
Aymé-Gripp syndrome	Aymé-Gripp syndrome	Orphanet	1272	http://www.orpha.net/ORDO/Orphanet_1272
Genetic hypoparathyroidism	Genetic hypoparathyroidism	Orphanet	208593	http://www.orpha.net/ORDO/Orphanet_208593
Genetic hyperparathyroidism	Genetic hyperparathyroidism	Orphanet	208596	http://www.orpha.net/ORDO/Orphanet_208596
Spinocerebellar ataxia type 29	Spinocerebellar ataxia type 29	Orphanet	208513	http://www.orpha.net/ORDO/Orphanet_208513
Herpetiform pemphigus	Herpetiform pemphigus	Orphanet	208524	http://www.orpha.net/ORDO/Orphanet_208524
Arthrogryposis-hyperkeratosis syndrome, lethal form	Arthrogryposis-hyperkeratosis syndrome, lethal form	Orphanet	1485	http://www.orpha.net/ORDO/Orphanet_1485
Autosomal dominant cerebellar ataxia type II	Autosomal dominant cerebellar ataxia type II	Orphanet	208508	http://www.orpha.net/ORDO/Orphanet_208508
Bilateral generalized polymicrogyria	Bilateral generalized polymicrogyria	Orphanet	208447	http://www.orpha.net/ORDO/Orphanet_208447
Intellectual disability-sparse hair-brachydactyly syndrome	Intellectual disability-sparse hair-brachydactyly syndrome	Orphanet	3051	http://www.orpha.net/ORDO/Orphanet_3051
Bilateral frontal polymicrogyria	Bilateral frontal polymicrogyria	Orphanet	208444	http://www.orpha.net/ORDO/Orphanet_208444
Bilateral parasagittal parieto-occipital polymicrogyria	Bilateral parasagittal parieto-occipital polymicrogyria	Orphanet	208441	http://www.orpha.net/ORDO/Orphanet_208441
Isolated arrhinia	Isolated arrhinia	Orphanet	1134	http://www.orpha.net/ORDO/Orphanet_1134
Familial caudal dysgenesis	Familial caudal dysgenesis	Orphanet	1768	http://www.orpha.net/ORDO/Orphanet_1768
Qualitative or quantitative defects of fukutin	Qualitative or quantitative defects of fukutin	Orphanet	207122	http://www.orpha.net/ORDO/Orphanet_207122
Dysplastic cortical hyperostosis	Dysplastic cortical hyperostosis	Orphanet	2204	http://www.orpha.net/ORDO/Orphanet_2204
Qualitative or quantitative defects of FKRP	Qualitative or quantitative defects of FKRP	Orphanet	207119	http://www.orpha.net/ORDO/Orphanet_207119
Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	Orphanet	207113	http://www.orpha.net/ORDO/Orphanet_207113
Progeroid syndrome, Petty type	Progeroid syndrome, Petty type	Orphanet	2963	http://www.orpha.net/ORDO/Orphanet_2963
Qualitative or quantitative defects of myotubularin	Qualitative or quantitative defects of myotubularin	Orphanet	207110	http://www.orpha.net/ORDO/Orphanet_207110
Qualitative or quantitative defects of TRIM32	Qualitative or quantitative defects of TRIM32	Orphanet	207107	http://www.orpha.net/ORDO/Orphanet_207107
Brachydactylous dwarfism, Mseleni type	Brachydactylous dwarfism, Mseleni type	Orphanet	2619	http://www.orpha.net/ORDO/Orphanet_2619
Qualitative or quantitative defects of calpain	Qualitative or quantitative defects of calpain	Orphanet	207104	http://www.orpha.net/ORDO/Orphanet_207104
Qualitative or quantitative defects of perlecan	Qualitative or quantitative defects of perlecan	Orphanet	207101	http://www.orpha.net/ORDO/Orphanet_207101
Craniosynostosis, Boston type	Craniosynostosis, Boston type	Orphanet	1541	http://www.orpha.net/ORDO/Orphanet_1541
Cholestasis-pigmentary retinopathy-cleft palate syndrome	Cholestasis-pigmentary retinopathy-cleft palate syndrome	Orphanet	1415	http://www.orpha.net/ORDO/Orphanet_1415
Hirschsprung disease-ganglioneuroblastoma syndrome	Hirschsprung disease-ganglioneuroblastoma syndrome	Orphanet	2151	http://www.orpha.net/ORDO/Orphanet_2151
Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome	Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome	Orphanet	2653	http://www.orpha.net/ORDO/Orphanet_2653
Autosomal dominant adult-onset proximal spinal muscular atrophy	Autosomal dominant adult-onset proximal spinal muscular atrophy	Orphanet	209335	http://www.orpha.net/ORDO/Orphanet_209335
DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy	DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy	Orphanet	209341	http://www.orpha.net/ORDO/Orphanet_209341
Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)	Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)	Orphanet	209185	http://www.orpha.net/ORDO/Orphanet_209185
Sacrococcygeal dysgenesis association	Sacrococcygeal dysgenesis association	Orphanet	1773	http://www.orpha.net/ORDO/Orphanet_1773
Qualitative or quantitative defects of emerin	Qualitative or quantitative defects of emerin	Orphanet	209188	http://www.orpha.net/ORDO/Orphanet_209188
Siegler-Brewer-Carey syndrome	Siegler-Brewer-Carey syndrome	Orphanet	3167	http://www.orpha.net/ORDO/Orphanet_3167
Qualitative or quantitative defects of selenoprotein N1	Qualitative or quantitative defects of selenoprotein N1	Orphanet	209193	http://www.orpha.net/ORDO/Orphanet_209193
Qualitative or quantitative defects of plectin	Qualitative or quantitative defects of plectin	Orphanet	209196	http://www.orpha.net/ORDO/Orphanet_209196
Qualitative or quantitative defects of protein SERCA1	Qualitative or quantitative defects of protein SERCA1	Orphanet	209199	http://www.orpha.net/ORDO/Orphanet_209199
Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -	Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -	Orphanet	209203	http://www.orpha.net/ORDO/Orphanet_209203
Myotilinopathy	Myotilinopathy	Orphanet	209224	http://www.orpha.net/ORDO/Orphanet_209224
Qualitative or quantitative defects of alphaB-cristallin	Qualitative or quantitative defects of alphaB-cristallin	Orphanet	209044	http://www.orpha.net/ORDO/Orphanet_209044
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome	Brachydactyly-mesomelia-intellectual disability-heart defects syndrome	Orphanet	1277	http://www.orpha.net/ORDO/Orphanet_1277
Qualitative or quantitative defects of desmin	Qualitative or quantitative defects of desmin	Orphanet	209041	http://www.orpha.net/ORDO/Orphanet_209041
Microphthalmia-microtia-fetal akinesia syndrome	Microphthalmia-microtia-fetal akinesia syndrome	Orphanet	2547	http://www.orpha.net/ORDO/Orphanet_2547
Qualitative or quantitative defects of protein ZASP	Qualitative or quantitative defects of protein ZASP	Orphanet	209050	http://www.orpha.net/ORDO/Orphanet_209050
Qualitative or quantitative defects of filamin C	Qualitative or quantitative defects of filamin C	Orphanet	209047	http://www.orpha.net/ORDO/Orphanet_209047
Qualitative or quantitative defects of telethonin	Qualitative or quantitative defects of telethonin	Orphanet	209056	http://www.orpha.net/ORDO/Orphanet_209056
Qualitative or quantitative defects of titin	Qualitative or quantitative defects of titin	Orphanet	209053	http://www.orpha.net/ORDO/Orphanet_209053
Qualitative or quantitative defects of nebulin	Qualitative or quantitative defects of nebulin	Orphanet	209182	http://www.orpha.net/ORDO/Orphanet_209182
Facial dysmorphism-shawl scrotum-joint laxity syndrome	Facial dysmorphism-shawl scrotum-joint laxity syndrome	Orphanet	1778	http://www.orpha.net/ORDO/Orphanet_1778
Qualitative or quantitative defects of alpha-actin	Qualitative or quantitative defects of alpha-actin	Orphanet	209059	http://www.orpha.net/ORDO/Orphanet_209059
Intellectual disability-short stature-hypertelorism syndrome	Intellectual disability-short stature-hypertelorism syndrome	Orphanet	3074	http://www.orpha.net/ORDO/Orphanet_3074
Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome	Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome	Orphanet	2649	http://www.orpha.net/ORDO/Orphanet_2649
Hematological disease associated with an acquired peripheral neuropathy	Hematological disease associated with an acquired peripheral neuropathy	Orphanet	209016	http://www.orpha.net/ORDO/Orphanet_209016
Acquired amyloid peripheral neuropathy	Acquired amyloid peripheral neuropathy	Orphanet	209013	http://www.orpha.net/ORDO/Orphanet_209013
Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase	Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase	Orphanet	209024	http://www.orpha.net/ORDO/Orphanet_209024
Thoraco-abdominal enteric duplication	Thoraco-abdominal enteric duplication	Orphanet	1759	http://www.orpha.net/ORDO/Orphanet_1759
Solid tumor associated with an acquired peripheral neuropathy	Solid tumor associated with an acquired peripheral neuropathy	Orphanet	209019	http://www.orpha.net/ORDO/Orphanet_209019
Qualitative or quantitative defects of protein O-mannosyltransferase 1	Qualitative or quantitative defects of protein O-mannosyltransferase 1	Orphanet	209030	http://www.orpha.net/ORDO/Orphanet_209030
Qualitative or quantitative defects of protein glycosyltransferase-like	Qualitative or quantitative defects of protein glycosyltransferase-like	Orphanet	209027	http://www.orpha.net/ORDO/Orphanet_209027
Qualitative or quantitative defects of myofibrillar proteins	Qualitative or quantitative defects of myofibrillar proteins	Orphanet	209038	http://www.orpha.net/ORDO/Orphanet_209038
Qualitative or quantitative defects of protein O-mannosyltransferase 2	Qualitative or quantitative defects of protein O-mannosyltransferase 2	Orphanet	209033	http://www.orpha.net/ORDO/Orphanet_209033
NON RARE IN EUROPE: Thyroglossal duct cyst	NON RARE IN EUROPE: Thyroglossal duct cyst	Orphanet	489	http://www.orpha.net/ORDO/Orphanet_489
Intermediate osteopetrosis	Intermediate osteopetrosis	Orphanet	210110	http://www.orpha.net/ORDO/Orphanet_210110
Umbilical cord ulceration-intestinal atresia syndrome	Umbilical cord ulceration-intestinal atresia syndrome	Orphanet	3405	http://www.orpha.net/ORDO/Orphanet_3405
Sterile multifocal osteomyelitis with periostitis and pustulosis	Sterile multifocal osteomyelitis with periostitis and pustulosis	Orphanet	210115	http://www.orpha.net/ORDO/Orphanet_210115
Ectopia lentis-chorioretinal dystrophy-myopia syndrome	Ectopia lentis-chorioretinal dystrophy-myopia syndrome	Orphanet	1884	http://www.orpha.net/ORDO/Orphanet_1884
IRIDA syndrome	IRIDA syndrome	Orphanet	209981	http://www.orpha.net/ORDO/Orphanet_209981
Non-papillary transitional cell carcinoma of the bladder	Non-papillary transitional cell carcinoma of the bladder	Orphanet	209989	http://www.orpha.net/ORDO/Orphanet_209989
Celiac disease-epilepsy-cerebral calcification syndrome	Celiac disease-epilepsy-cerebral calcification syndrome	Orphanet	1459	http://www.orpha.net/ORDO/Orphanet_1459
Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome	Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome	Orphanet	210133	http://www.orpha.net/ORDO/Orphanet_210133
Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome	Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome	Orphanet	210136	http://www.orpha.net/ORDO/Orphanet_210136
Myalgia-eosinophilia syndrome associated with tryptophan	Myalgia-eosinophilia syndrome associated with tryptophan	Orphanet	2582	http://www.orpha.net/ORDO/Orphanet_2582
Congenital alveolar capillary dysplasia	Congenital alveolar capillary dysplasia	Orphanet	210122	http://www.orpha.net/ORDO/Orphanet_210122
Urocanic aciduria	Urocanic aciduria	Orphanet	210128	http://www.orpha.net/ORDO/Orphanet_210128
Pontocerebellar hypoplasia type 1	Pontocerebellar hypoplasia type 1	Orphanet	2254	http://www.orpha.net/ORDO/Orphanet_2254
Phacoanaphylactic uveitis	Phacoanaphylactic uveitis	Orphanet	209959	http://www.orpha.net/ORDO/Orphanet_209959
Solitary rectal ulcer syndrome	Solitary rectal ulcer syndrome	Orphanet	209964	http://www.orpha.net/ORDO/Orphanet_209964
Autosomal recessive spastic paraplegia type 18	Autosomal recessive spastic paraplegia type 18	Orphanet	209951	http://www.orpha.net/ORDO/Orphanet_209951
Idiopathic uveal effusion syndrome	Idiopathic uveal effusion syndrome	Orphanet	209956	http://www.orpha.net/ORDO/Orphanet_209956
Benign nocturnal alternating hemiplegia of childhood	Benign nocturnal alternating hemiplegia of childhood	Orphanet	209973	http://www.orpha.net/ORDO/Orphanet_209973
Alternating hemiplegia	Alternating hemiplegia	Orphanet	209978	http://www.orpha.net/ORDO/Orphanet_209978
Episodic ataxia type 6	Episodic ataxia type 6	Orphanet	209967	http://www.orpha.net/ORDO/Orphanet_209967
Episodic ataxia type 7	Episodic ataxia type 7	Orphanet	209970	http://www.orpha.net/ORDO/Orphanet_209970
Fowler urethral sphincter dysfunction syndrome	Fowler urethral sphincter dysfunction syndrome	Orphanet	2795	http://www.orpha.net/ORDO/Orphanet_2795
Childhood apraxia of speech	Childhood apraxia of speech	Orphanet	209908	http://www.orpha.net/ORDO/Orphanet_209908
Brain-lung-thyroid syndrome	Brain-lung-thyroid syndrome	Orphanet	209905	http://www.orpha.net/ORDO/Orphanet_209905
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	Orphanet	209902	http://www.orpha.net/ORDO/Orphanet_209902
NON RARE IN EUROPE: Congenital isolated thyroxine-binding globulin deficiency	NON RARE IN EUROPE: Congenital isolated thyroxine-binding globulin deficiency	Orphanet	209893	http://www.orpha.net/ORDO/Orphanet_209893
Adult familial nephronophthisis-spastic quadriparesia syndrome	Adult familial nephronophthisis-spastic quadriparesia syndrome	Orphanet	2666	http://www.orpha.net/ORDO/Orphanet_2666
IRVAN syndrome	IRVAN syndrome	Orphanet	209943	http://www.orpha.net/ORDO/Orphanet_209943
Cone dystrophy with supernormal rod response	Cone dystrophy with supernormal rod response	Orphanet	209932	http://www.orpha.net/ORDO/Orphanet_209932
Sacral hemangiomas-multiple congenital abnormalities syndrome	Sacral hemangiomas-multiple congenital abnormalities syndrome	Orphanet	2125	http://www.orpha.net/ORDO/Orphanet_2125
Idiopathic copper-associated cirrhosis	Idiopathic copper-associated cirrhosis	Orphanet	209919	http://www.orpha.net/ORDO/Orphanet_209919
Extraskeletal myxoid chondrosarcoma	Extraskeletal myxoid chondrosarcoma	Orphanet	209916	http://www.orpha.net/ORDO/Orphanet_209916
Microcephaly-seizures-intellectual disability-heart disease syndrome	Microcephaly-seizures-intellectual disability-heart disease syndrome	Orphanet	2519	http://www.orpha.net/ORDO/Orphanet_2519
Severe neonatal-onset encephalopathy with microcephaly	Severe neonatal-onset encephalopathy with microcephaly	Orphanet	209370	http://www.orpha.net/ORDO/Orphanet_209370
Autosomal dominant rhegmatogenous retinal detachment	Autosomal dominant rhegmatogenous retinal detachment	Orphanet	209867	http://www.orpha.net/ORDO/Orphanet_209867
Myoclonic dystonia 15	Myoclonic dystonia 15	Orphanet	210566	http://www.orpha.net/ORDO/Orphanet_210566
Dystonia 16	Dystonia 16	Orphanet	210571	http://www.orpha.net/ORDO/Orphanet_210571
Catecholaminergic polymorphic ventricular tachycardia	Catecholaminergic polymorphic ventricular tachycardia	Orphanet	3286	http://www.orpha.net/ORDO/Orphanet_3286
Mal de débarquement	Mal de débarquement	Orphanet	210272	http://www.orpha.net/ORDO/Orphanet_210272
Macrocephaly-intellectual disability-autism syndrome	Macrocephaly-intellectual disability-autism syndrome	Orphanet	210548	http://www.orpha.net/ORDO/Orphanet_210548
Adult hepatocellular carcinoma	Adult hepatocellular carcinoma	Orphanet	210159	http://www.orpha.net/ORDO/Orphanet_210159
His bundle tachycardia	His bundle tachycardia	Orphanet	3283	http://www.orpha.net/ORDO/Orphanet_3283
Congenital lethal myopathy, Compton-North type	Congenital lethal myopathy, Compton-North type	Orphanet	210163	http://www.orpha.net/ORDO/Orphanet_210163
Central nervous system calcification-deafness-tubular acidosis-anemia syndrome	Central nervous system calcification-deafness-tubular acidosis-anemia syndrome	Orphanet	3240	http://www.orpha.net/ORDO/Orphanet_3240
Inherited congenital spastic tetraplegia	Inherited congenital spastic tetraplegia	Orphanet	210141	http://www.orpha.net/ORDO/Orphanet_210141
Lethal polymalformative syndrome, Boissel type	Lethal polymalformative syndrome, Boissel type	Orphanet	210144	http://www.orpha.net/ORDO/Orphanet_210144
Cryptococcosis	Cryptococcosis	Orphanet	1546	http://www.orpha.net/ORDO/Orphanet_1546
Amoebiasis due to Entamoeba histolytica	Amoebiasis due to Entamoeba histolytica	Orphanet	67	http://www.orpha.net/ORDO/Orphanet_67
Spindle cell hemangioma	Spindle cell hemangioma	Orphanet	210584	http://www.orpha.net/ORDO/Orphanet_210584
Undifferentiated pleomorphic sarcoma	Undifferentiated pleomorphic sarcoma	Orphanet	2023	http://www.orpha.net/ORDO/Orphanet_2023
Infantile hemangioma of rare localization	Infantile hemangioma of rare localization	Orphanet	210589	http://www.orpha.net/ORDO/Orphanet_210589
Primary hyperoxaluria	Primary hyperoxaluria	Orphanet	416	http://www.orpha.net/ORDO/Orphanet_416
Congenital temporomandibular joint ankylosis	Congenital temporomandibular joint ankylosis	Orphanet	210576	http://www.orpha.net/ORDO/Orphanet_210576
Temporomandibular joint anomaly	Temporomandibular joint anomaly	Orphanet	210581	http://www.orpha.net/ORDO/Orphanet_210581
Distal myopathy	Distal myopathy	Orphanet	599	http://www.orpha.net/ORDO/Orphanet_599
Tularemia	Tularemia	Orphanet	3392	http://www.orpha.net/ORDO/Orphanet_3392
Genetic vascular anomaly	Genetic vascular anomaly	Orphanet	211240	http://www.orpha.net/ORDO/Orphanet_211240
Tufted angioma	Tufted angioma	Orphanet	1063	http://www.orpha.net/ORDO/Orphanet_1063
Rare vascular tumor	Rare vascular tumor	Orphanet	211237	http://www.orpha.net/ORDO/Orphanet_211237
Onchocerciasis	Onchocerciasis	Orphanet	2737	http://www.orpha.net/ORDO/Orphanet_2737
Episodic ataxia type 5	Episodic ataxia type 5	Orphanet	211067	http://www.orpha.net/ORDO/Orphanet_211067
Toxocariasis	Toxocariasis	Orphanet	3343	http://www.orpha.net/ORDO/Orphanet_3343
Hereditary episodic ataxia	Hereditary episodic ataxia	Orphanet	211062	http://www.orpha.net/ORDO/Orphanet_211062
Specific language disorder	Specific language disorder	Orphanet	211053	http://www.orpha.net/ORDO/Orphanet_211053
Filariasis	Filariasis	Orphanet	2034	http://www.orpha.net/ORDO/Orphanet_2034
Specific learning disability	Specific learning disability	Orphanet	211047	http://www.orpha.net/ORDO/Orphanet_211047
Mycetoma	Mycetoma	Orphanet	2583	http://www.orpha.net/ORDO/Orphanet_2583
Distomatosis	Distomatosis	Orphanet	1685	http://www.orpha.net/ORDO/Orphanet_1685
Autosomal dominant proximal spinal muscular atrophy	Autosomal dominant proximal spinal muscular atrophy	Orphanet	211037	http://www.orpha.net/ORDO/Orphanet_211037
Spinocerebellar ataxia type 30	Spinocerebellar ataxia type 30	Orphanet	211017	http://www.orpha.net/ORDO/Orphanet_211017
Ehrlichiosis	Ehrlichiosis	Orphanet	1902	http://www.orpha.net/ORDO/Orphanet_1902
Genetic steroid-resistant nephrotic syndrome	Genetic steroid-resistant nephrotic syndrome	Orphanet	656	http://www.orpha.net/ORDO/Orphanet_656
Complex vascular malformation with associated anomalies	Complex vascular malformation with associated anomalies	Orphanet	211277	http://www.orpha.net/ORDO/Orphanet_211277
Rare arteriovenous malformation	Rare arteriovenous malformation	Orphanet	211266	http://www.orpha.net/ORDO/Orphanet_211266
Nephronophthisis	Nephronophthisis	Orphanet	655	http://www.orpha.net/ORDO/Orphanet_655
Rare lymphatic system anomaly	Rare lymphatic system anomaly	Orphanet	211255	http://www.orpha.net/ORDO/Orphanet_211255
Rare venous malformation	Rare venous malformation	Orphanet	211252	http://www.orpha.net/ORDO/Orphanet_211252
Rare lymphatic malformation	Rare lymphatic malformation	Orphanet	2415	http://www.orpha.net/ORDO/Orphanet_2415
Rare capillary malformation	Rare capillary malformation	Orphanet	211247	http://www.orpha.net/ORDO/Orphanet_211247
Kaposiform hemangioendothelioma	Kaposiform hemangioendothelioma	Orphanet	2122	http://www.orpha.net/ORDO/Orphanet_2122
Simple vascular malformation	Simple vascular malformation	Orphanet	211243	http://www.orpha.net/ORDO/Orphanet_211243
Infantile myofibromatosis	Infantile myofibromatosis	Orphanet	2591	http://www.orpha.net/ORDO/Orphanet_2591
Propionic acidemia	Propionic acidemia	Orphanet	35	http://www.orpha.net/ORDO/Orphanet_35
Glycine encephalopathy	Glycine encephalopathy	Orphanet	407	http://www.orpha.net/ORDO/Orphanet_407
Leukocyte adhesion deficiency	Leukocyte adhesion deficiency	Orphanet	2968	http://www.orpha.net/ORDO/Orphanet_2968
Mitochondrial DNA-related progressive external ophthalmoplegia	Mitochondrial DNA-related progressive external ophthalmoplegia	Orphanet	663	http://www.orpha.net/ORDO/Orphanet_663
Congenital disorder of glycosylation	Congenital disorder of glycosylation	Orphanet	137	http://www.orpha.net/ORDO/Orphanet_137
Denys-Drash syndrome	Denys-Drash syndrome	Orphanet	220	http://www.orpha.net/ORDO/Orphanet_220
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Orphanet	5	http://www.orpha.net/ORDO/Orphanet_5
Congenital dyserythropoietic anemia	Congenital dyserythropoietic anemia	Orphanet	85	http://www.orpha.net/ORDO/Orphanet_85
Glutaryl-CoA dehydrogenase deficiency	Glutaryl-CoA dehydrogenase deficiency	Orphanet	25	http://www.orpha.net/ORDO/Orphanet_25
Rhizomelic chondrodysplasia punctata	Rhizomelic chondrodysplasia punctata	Orphanet	177	http://www.orpha.net/ORDO/Orphanet_177
Brachydactyly-nystagmus-cerebellar ataxia syndrome	Brachydactyly-nystagmus-cerebellar ataxia syndrome	Orphanet	1246	http://www.orpha.net/ORDO/Orphanet_1246
Familial melanoma	Familial melanoma	Orphanet	618	http://www.orpha.net/ORDO/Orphanet_618
Hereditary glaucoma	Hereditary glaucoma	Orphanet	359	http://www.orpha.net/ORDO/Orphanet_359
Familial partial epilepsy	Familial partial epilepsy	Orphanet	309	http://www.orpha.net/ORDO/Orphanet_309
Ovarian cancer	Ovarian cancer	Orphanet	213500	http://www.orpha.net/ORDO/Orphanet_213500
Glycogen storage disease due to lactate dehydrogenase deficiency	Glycogen storage disease due to lactate dehydrogenase deficiency	Orphanet	2364	http://www.orpha.net/ORDO/Orphanet_2364
Glycogen storage disease due to phosphoglucomutase deficiency	Glycogen storage disease due to phosphoglucomutase deficiency	Orphanet	711	http://www.orpha.net/ORDO/Orphanet_711
Smith-Lemli-Opitz syndrome	Smith-Lemli-Opitz syndrome	Orphanet	818	http://www.orpha.net/ORDO/Orphanet_818
Malignant mixed Müllerian tumor of the ovary	Malignant mixed Müllerian tumor of the ovary	Orphanet	213512	http://www.orpha.net/ORDO/Orphanet_213512
Adenocarcinoma of ovary	Adenocarcinoma of ovary	Orphanet	213504	http://www.orpha.net/ORDO/Orphanet_213504
Cartilage-hair hypoplasia	Cartilage-hair hypoplasia	Orphanet	175	http://www.orpha.net/ORDO/Orphanet_175
Cutis laxa	Cutis laxa	Orphanet	209	http://www.orpha.net/ORDO/Orphanet_209
Medium chain acyl-CoA dehydrogenase deficiency	Medium chain acyl-CoA dehydrogenase deficiency	Orphanet	42	http://www.orpha.net/ORDO/Orphanet_42
Rare uterine cancer	Rare uterine cancer	Orphanet	213564	http://www.orpha.net/ORDO/Orphanet_213564
Salivary gland type cancer of the breast	Salivary gland type cancer of the breast	Orphanet	213557	http://www.orpha.net/ORDO/Orphanet_213557
Rare variants of adenocarcinoma of the corpus uteri	Rare variants of adenocarcinoma of the corpus uteri	Orphanet	213574	http://www.orpha.net/ORDO/Orphanet_213574
Rare cancer of corpus uteri	Rare cancer of corpus uteri	Orphanet	213569	http://www.orpha.net/ORDO/Orphanet_213569
Hereditary site-specific ovarian cancer syndrome	Hereditary site-specific ovarian cancer syndrome	Orphanet	213524	http://www.orpha.net/ORDO/Orphanet_213524
Familial ovarian cancer	Familial ovarian cancer	Orphanet	213517	http://www.orpha.net/ORDO/Orphanet_213517
Gamma-aminobutyric acid transaminase deficiency	Gamma-aminobutyric acid transaminase deficiency	Orphanet	2066	http://www.orpha.net/ORDO/Orphanet_2066
Bifunctional enzyme deficiency	Bifunctional enzyme deficiency	Orphanet	300	http://www.orpha.net/ORDO/Orphanet_300
Metaplastic carcinoma of the breast	Metaplastic carcinoma of the breast	Orphanet	213531	http://www.orpha.net/ORDO/Orphanet_213531
Rare adenocarcinoma of the breast	Rare adenocarcinoma of the breast	Orphanet	213528	http://www.orpha.net/ORDO/Orphanet_213528
Congenital pulmonary veins atresia or stenosis	Congenital pulmonary veins atresia or stenosis	Orphanet	3188	http://www.orpha.net/ORDO/Orphanet_3188
Carcinofibroma of the corpus uteri	Carcinofibroma of the corpus uteri	Orphanet	213605	http://www.orpha.net/ORDO/Orphanet_213605
Carcinosarcoma of the corpus uteri	Carcinosarcoma of the corpus uteri	Orphanet	213610	http://www.orpha.net/ORDO/Orphanet_213610
Congenital pulmonary sequestration	Congenital pulmonary sequestration	Orphanet	3161	http://www.orpha.net/ORDO/Orphanet_3161
Malignant mixed epithelial and mesenchymal tumor of corpus uteri	Malignant mixed epithelial and mesenchymal tumor of corpus uteri	Orphanet	213589	http://www.orpha.net/ORDO/Orphanet_213589
Adenosarcoma of the corpus uteri	Adenosarcoma of the corpus uteri	Orphanet	213600	http://www.orpha.net/ORDO/Orphanet_213600
Congenitally uncorrected transposition of the great arteries	Congenitally uncorrected transposition of the great arteries	Orphanet	860	http://www.orpha.net/ORDO/Orphanet_860
Leiomyosarcoma of the corpus uteri	Leiomyosarcoma of the corpus uteri	Orphanet	213625	http://www.orpha.net/ORDO/Orphanet_213625
Scimitar syndrome	Scimitar syndrome	Orphanet	185	http://www.orpha.net/ORDO/Orphanet_185
Primitive neuroectodermal tumor of the corpus uteri	Primitive neuroectodermal tumor of the corpus uteri	Orphanet	213630	http://www.orpha.net/ORDO/Orphanet_213630
Subpulmonary stenosis	Subpulmonary stenosis	Orphanet	3190	http://www.orpha.net/ORDO/Orphanet_3190
Rhabdomyosarcoma of the corpus uteri	Rhabdomyosarcoma of the corpus uteri	Orphanet	213615	http://www.orpha.net/ORDO/Orphanet_213615
Sarcoma of the corpus uteri	Sarcoma of the corpus uteri	Orphanet	213620	http://www.orpha.net/ORDO/Orphanet_213620
Congenital pulmonary valve stenosis	Congenital pulmonary valve stenosis	Orphanet	3189	http://www.orpha.net/ORDO/Orphanet_3189
Undifferentiated carcinoma of the corpus uteri	Undifferentiated carcinoma of the corpus uteri	Orphanet	213721	http://www.orpha.net/ORDO/Orphanet_213721
Univentricular heart	Univentricular heart	Orphanet	1464	http://www.orpha.net/ORDO/Orphanet_1464
Papillary carcinoma of the corpus uteri	Papillary carcinoma of the corpus uteri	Orphanet	213726	http://www.orpha.net/ORDO/Orphanet_213726
Aorto-ventricular tunnel	Aorto-ventricular tunnel	Orphanet	3400	http://www.orpha.net/ORDO/Orphanet_3400
Endometrial stromal sarcoma	Endometrial stromal sarcoma	Orphanet	213711	http://www.orpha.net/ORDO/Orphanet_213711
Squamous cell carcinoma of the corpus uteri	Squamous cell carcinoma of the corpus uteri	Orphanet	213716	http://www.orpha.net/ORDO/Orphanet_213716
Transitional cell carcinoma of the corpus uteri	Transitional cell carcinoma of the corpus uteri	Orphanet	213746	http://www.orpha.net/ORDO/Orphanet_213746
Common variable immunodeficiency	Common variable immunodeficiency	Orphanet	1572	http://www.orpha.net/ORDO/Orphanet_1572
High-grade neuroendocrine carcinoma of the corpus uteri	High-grade neuroendocrine carcinoma of the corpus uteri	Orphanet	213731	http://www.orpha.net/ORDO/Orphanet_213731
Autoimmune lymphoproliferative syndrome	Autoimmune lymphoproliferative syndrome	Orphanet	3261	http://www.orpha.net/ORDO/Orphanet_3261
Low-grade neuroendocrine tumor of the corpus uteri	Low-grade neuroendocrine tumor of the corpus uteri	Orphanet	213736	http://www.orpha.net/ORDO/Orphanet_213736
Perlman syndrome	Perlman syndrome	Orphanet	2849	http://www.orpha.net/ORDO/Orphanet_2849
Adenocarcinoma of the cervix uteri	Adenocarcinoma of the cervix uteri	Orphanet	213772	http://www.orpha.net/ORDO/Orphanet_213772
Squamous cell carcinoma of the cervix uteri	Squamous cell carcinoma of the cervix uteri	Orphanet	213767	http://www.orpha.net/ORDO/Orphanet_213767
Rare cancer of cervix uteri	Rare cancer of cervix uteri	Orphanet	213761	http://www.orpha.net/ORDO/Orphanet_213761
Malignant germ cell tumor of the corpus uteri	Malignant germ cell tumor of the corpus uteri	Orphanet	213751	http://www.orpha.net/ORDO/Orphanet_213751
Adenosarcoma of the cervix uteri	Adenosarcoma of the cervix uteri	Orphanet	213792	http://www.orpha.net/ORDO/Orphanet_213792
Carcinosarcoma of the cervix uteri	Carcinosarcoma of the cervix uteri	Orphanet	213787	http://www.orpha.net/ORDO/Orphanet_213787
Malignant mixed epithelial and mesenchymal tumor of cervix uteri	Malignant mixed epithelial and mesenchymal tumor of cervix uteri	Orphanet	213782	http://www.orpha.net/ORDO/Orphanet_213782
High-grade neuroendocrine carcinoma of the cervix uteri	High-grade neuroendocrine carcinoma of the cervix uteri	Orphanet	213777	http://www.orpha.net/ORDO/Orphanet_213777
Primitive neuroectodermal tumor of the cervix uteri	Primitive neuroectodermal tumor of the cervix uteri	Orphanet	213812	http://www.orpha.net/ORDO/Orphanet_213812
Autoimmune pulmonary alveolar proteinosis	Autoimmune pulmonary alveolar proteinosis	Orphanet	747	http://www.orpha.net/ORDO/Orphanet_747
Leiomyosarcoma of the cervix uteri	Leiomyosarcoma of the cervix uteri	Orphanet	213807	http://www.orpha.net/ORDO/Orphanet_213807
Rhabdomyosarcoma of the cervix uteri	Rhabdomyosarcoma of the cervix uteri	Orphanet	213802	http://www.orpha.net/ORDO/Orphanet_213802
Musculocontractural Ehlers-Danlos syndrome	Musculocontractural Ehlers-Danlos syndrome	Orphanet	2953	http://www.orpha.net/ORDO/Orphanet_2953
Sarcoma of cervix uteri	Sarcoma of cervix uteri	Orphanet	213797	http://www.orpha.net/ORDO/Orphanet_213797
Glassy cell carcinoma of the cervix uteri	Glassy cell carcinoma of the cervix uteri	Orphanet	213833	http://www.orpha.net/ORDO/Orphanet_213833
Adenoid basal carcinoma of the cervix uteri	Adenoid basal carcinoma of the cervix uteri	Orphanet	213828	http://www.orpha.net/ORDO/Orphanet_213828
Adenoid cystic carcinoma of the cervix uteri	Adenoid cystic carcinoma of the cervix uteri	Orphanet	213823	http://www.orpha.net/ORDO/Orphanet_213823
Intellectual disability-polydactyly-uncombable hair syndrome	Intellectual disability-polydactyly-uncombable hair syndrome	Orphanet	3082	http://www.orpha.net/ORDO/Orphanet_3082
Papillary carcinoma of the cervix uteri	Papillary carcinoma of the cervix uteri	Orphanet	213817	http://www.orpha.net/ORDO/Orphanet_213817
Axenfeld-Rieger syndrome	Axenfeld-Rieger syndrome	Orphanet	782	http://www.orpha.net/ORDO/Orphanet_782
Congenital radioulnar synostosis	Congenital radioulnar synostosis	Orphanet	3269	http://www.orpha.net/ORDO/Orphanet_3269
Malignant germ cell tumor of the cervix uteri	Malignant germ cell tumor of the cervix uteri	Orphanet	213837	http://www.orpha.net/ORDO/Orphanet_213837
Syndactyly-polydactyly-ear lobe syndrome	Syndactyly-polydactyly-ear lobe syndrome	Orphanet	3259	http://www.orpha.net/ORDO/Orphanet_3259
Prelingual non-syndromic genetic deafness	Prelingual non-syndromic genetic deafness	Orphanet	216445	http://www.orpha.net/ORDO/Orphanet_216445
Tetrasomy 5p	Tetrasomy 5p	Orphanet	3309	http://www.orpha.net/ORDO/Orphanet_3309
Postlingual non-syndromic genetic deafness	Postlingual non-syndromic genetic deafness	Orphanet	216452	http://www.orpha.net/ORDO/Orphanet_216452
Transposition of the great arteries	Transposition of the great arteries	Orphanet	216675	http://www.orpha.net/ORDO/Orphanet_216675
Distal trisomy 17q	Distal trisomy 17q	Orphanet	3379	http://www.orpha.net/ORDO/Orphanet_3379
Congenitally corrected transposition of the great arteries	Congenitally corrected transposition of the great arteries	Orphanet	216694	http://www.orpha.net/ORDO/Orphanet_216694
Isolated congenitally uncorrected transposition of the great arteries	Isolated congenitally uncorrected transposition of the great arteries	Orphanet	216718	http://www.orpha.net/ORDO/Orphanet_216718
Double uterus-hemivagina-renal agenesis syndrome	Double uterus-hemivagina-renal agenesis syndrome	Orphanet	3411	http://www.orpha.net/ORDO/Orphanet_3411
Congenitally uncorrected transposition of the great arteries with cardiac malformation	Congenitally uncorrected transposition of the great arteries with cardiac malformation	Orphanet	216729	http://www.orpha.net/ORDO/Orphanet_216729
Tyrosinemia type 1	Tyrosinemia type 1	Orphanet	882	http://www.orpha.net/ORDO/Orphanet_882
Osteogenesis imperfecta type 1	Osteogenesis imperfecta type 1	Orphanet	216796	http://www.orpha.net/ORDO/Orphanet_216796
Von Willebrand disease	Von Willebrand disease	Orphanet	903	http://www.orpha.net/ORDO/Orphanet_903
Osteogenesis imperfecta type 2	Osteogenesis imperfecta type 2	Orphanet	216804	http://www.orpha.net/ORDO/Orphanet_216804
Osteogenesis imperfecta type 3	Osteogenesis imperfecta type 3	Orphanet	216812	http://www.orpha.net/ORDO/Orphanet_216812
X-linked fetal akinesia syndrome	X-linked fetal akinesia syndrome	Orphanet	995	http://www.orpha.net/ORDO/Orphanet_995
Osteogenesis imperfecta type 4	Osteogenesis imperfecta type 4	Orphanet	216820	http://www.orpha.net/ORDO/Orphanet_216820
Osteogenesis imperfecta type 5	Osteogenesis imperfecta type 5	Orphanet	216828	http://www.orpha.net/ORDO/Orphanet_216828
CHIME syndrome	CHIME syndrome	Orphanet	3474	http://www.orpha.net/ORDO/Orphanet_3474
Classic pantothenate kinase-associated neurodegeneration	Classic pantothenate kinase-associated neurodegeneration	Orphanet	216866	http://www.orpha.net/ORDO/Orphanet_216866
Atypical pantothenate kinase-associated neurodegeneration	Atypical pantothenate kinase-associated neurodegeneration	Orphanet	216873	http://www.orpha.net/ORDO/Orphanet_216873
Niemann-Pick disease type C, severe perinatal form	Niemann-Pick disease type C, severe perinatal form	Orphanet	216972	http://www.orpha.net/ORDO/Orphanet_216972
Ring chromosome 17 syndrome	Ring chromosome 17 syndrome	Orphanet	1441	http://www.orpha.net/ORDO/Orphanet_1441
Niemann-Pick disease type C, late infantile neurologic onset	Niemann-Pick disease type C, late infantile neurologic onset	Orphanet	216978	http://www.orpha.net/ORDO/Orphanet_216978
Familial glucocorticoid deficiency	Familial glucocorticoid deficiency	Orphanet	361	http://www.orpha.net/ORDO/Orphanet_361
Niemann-Pick disease type C, severe early infantile neurologic onset	Niemann-Pick disease type C, severe early infantile neurologic onset	Orphanet	216975	http://www.orpha.net/ORDO/Orphanet_216975
Niemann-Pick disease type C, adult neurologic onset	Niemann-Pick disease type C, adult neurologic onset	Orphanet	216986	http://www.orpha.net/ORDO/Orphanet_216986
Acrofacial dysostosis, Palagonia type	Acrofacial dysostosis, Palagonia type	Orphanet	1787	http://www.orpha.net/ORDO/Orphanet_1787
Niemann-Pick disease type C, juvenile neurologic onset	Niemann-Pick disease type C, juvenile neurologic onset	Orphanet	216981	http://www.orpha.net/ORDO/Orphanet_216981
NON RARE IN EUROPE: Trochlear dysplasia	NON RARE IN EUROPE: Trochlear dysplasia	Orphanet	1863	http://www.orpha.net/ORDO/Orphanet_1863
Bockenheimer syndrome	Bockenheimer syndrome	Orphanet	217008	http://www.orpha.net/ORDO/Orphanet_217008
Autosomal dominant dystrophic epidermolysis bullosa, Pasini type	Autosomal dominant dystrophic epidermolysis bullosa, Pasini type	Orphanet	216989	http://www.orpha.net/ORDO/Orphanet_216989
Zechi-Ceide syndrome	Zechi-Ceide syndrome	Orphanet	217017	http://www.orpha.net/ORDO/Orphanet_217017
Spinocerebellar ataxia type 31	Spinocerebellar ataxia type 31	Orphanet	217012	http://www.orpha.net/ORDO/Orphanet_217012
Fanconi-Bickel Syndrome	Fanconi-Bickel Syndrome	Orphanet	2088	http://www.orpha.net/ORDO/Orphanet_2088
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type	Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type	Orphanet	217026	http://www.orpha.net/ORDO/Orphanet_217026
Male infertility with normal virilization due to meiosis defect	Male infertility with normal virilization due to meiosis defect	Orphanet	217034	http://www.orpha.net/ORDO/Orphanet_217034
NON RARE IN EUROPE: Obesity due to MC3R deficiency	NON RARE IN EUROPE: Obesity due to MC3R deficiency	Orphanet	217031	http://www.orpha.net/ORDO/Orphanet_217031
BNAR syndrome	BNAR syndrome	Orphanet	217266	http://www.orpha.net/ORDO/Orphanet_217266
Birdshot chorioretinopathy	Birdshot chorioretinopathy	Orphanet	179	http://www.orpha.net/ORDO/Orphanet_179
Progressive multifocal leukoencephalopathy	Progressive multifocal leukoencephalopathy	Orphanet	217260	http://www.orpha.net/ORDO/Orphanet_217260
Congenital enterovirus infection	Congenital enterovirus infection	Orphanet	292	http://www.orpha.net/ORDO/Orphanet_292
Limbic encephalitis with NMDA receptor antibodies	Limbic encephalitis with NMDA receptor antibodies	Orphanet	217253	http://www.orpha.net/ORDO/Orphanet_217253
Polyarteritis nodosa	Polyarteritis nodosa	Orphanet	767	http://www.orpha.net/ORDO/Orphanet_767
Classic mycosis fungoides	Classic mycosis fungoides	Orphanet	2584	http://www.orpha.net/ORDO/Orphanet_2584
Mucopolysaccharidosis type 2, attenuated form	Mucopolysaccharidosis type 2, attenuated form	Orphanet	217093	http://www.orpha.net/ORDO/Orphanet_217093
Sézary syndrome	Sézary syndrome	Orphanet	3162	http://www.orpha.net/ORDO/Orphanet_3162
Mucopolysaccharidosis type 2, severe form	Mucopolysaccharidosis type 2, severe form	Orphanet	217085	http://www.orpha.net/ORDO/Orphanet_217085
Pulmonary fungal infections in patients deemed at risk	Pulmonary fungal infections in patients deemed at risk	Orphanet	217080	http://www.orpha.net/ORDO/Orphanet_217080
Rare carcinoma of pancreas	Rare carcinoma of pancreas	Orphanet	217074	http://www.orpha.net/ORDO/Orphanet_217074
Kasabach-Merritt syndrome	Kasabach-Merritt syndrome	Orphanet	2330	http://www.orpha.net/ORDO/Orphanet_2330
Renal cell carcinoma	Renal cell carcinoma	Orphanet	217071	http://www.orpha.net/ORDO/Orphanet_217071
Pouchitis	Pouchitis	Orphanet	217067	http://www.orpha.net/ORDO/Orphanet_217067
Noma	Noma	Orphanet	2700	http://www.orpha.net/ORDO/Orphanet_2700
5-fluorouracil poisoning	5-fluorouracil poisoning	Orphanet	217064	http://www.orpha.net/ORDO/Orphanet_217064
CINCA syndrome	CINCA syndrome	Orphanet	1451	http://www.orpha.net/ORDO/Orphanet_1451
Isolated congenital digital clubbing	Isolated congenital digital clubbing	Orphanet	217059	http://www.orpha.net/ORDO/Orphanet_217059
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A	Orphanet	217055	http://www.orpha.net/ORDO/Orphanet_217055
Malakoplakia	Malakoplakia	Orphanet	556	http://www.orpha.net/ORDO/Orphanet_556
RIN2 syndrome	RIN2 syndrome	Orphanet	217335	http://www.orpha.net/ORDO/Orphanet_217335
Opitz G/BBB syndrome	Opitz G/BBB syndrome	Orphanet	2745	http://www.orpha.net/ORDO/Orphanet_2745
17q21.31 microduplication syndrome	17q21.31 microduplication syndrome	Orphanet	217340	http://www.orpha.net/ORDO/Orphanet_217340
Idiopathic hypereosinophilic syndrome	Idiopathic hypereosinophilic syndrome	Orphanet	3260	http://www.orpha.net/ORDO/Orphanet_3260
Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome	Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome	Orphanet	217315	http://www.orpha.net/ORDO/Orphanet_217315
REN-related autosomal dominant tubulointerstitial kidney disease	REN-related autosomal dominant tubulointerstitial kidney disease	Orphanet	217330	http://www.orpha.net/ORDO/Orphanet_217330
NON RARE IN EUROPE: Dementia with Lewy body	NON RARE IN EUROPE: Dementia with Lewy body	Orphanet	1648	http://www.orpha.net/ORDO/Orphanet_1648
Optic pathway glioma	Optic pathway glioma	Orphanet	2086	http://www.orpha.net/ORDO/Orphanet_2086
Chronic Epstein-Barr virus infection syndrome	Chronic Epstein-Barr virus infection syndrome	Orphanet	2566	http://www.orpha.net/ORDO/Orphanet_2566
African trypanosomiasis	African trypanosomiasis	Orphanet	3385	http://www.orpha.net/ORDO/Orphanet_3385
Cysticercosis	Cysticercosis	Orphanet	1560	http://www.orpha.net/ORDO/Orphanet_1560
Congenital microcoria	Congenital microcoria	Orphanet	566	http://www.orpha.net/ORDO/Orphanet_566
Arbovirus fever	Arbovirus fever	Orphanet	344	http://www.orpha.net/ORDO/Orphanet_344
Viral hemorrhagic fever	Viral hemorrhagic fever	Orphanet	341	http://www.orpha.net/ORDO/Orphanet_341
Hemorrhagic fever-renal syndrome	Hemorrhagic fever-renal syndrome	Orphanet	340	http://www.orpha.net/ORDO/Orphanet_340
Microsporidiosis	Microsporidiosis	Orphanet	2552	http://www.orpha.net/ORDO/Orphanet_2552
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	Orphanet	1171	http://www.orpha.net/ORDO/Orphanet_1171
Triatrial heart	Triatrial heart	Orphanet	1463	http://www.orpha.net/ORDO/Orphanet_1463
Neuroendocrine cell hyperplasia of infancy	Neuroendocrine cell hyperplasia of infancy	Orphanet	217560	http://www.orpha.net/ORDO/Orphanet_217560
Pulmonary interstitial glycogenosis	Pulmonary interstitial glycogenosis	Orphanet	217557	http://www.orpha.net/ORDO/Orphanet_217557
Cardiac diverticulum	Cardiac diverticulum	Orphanet	1686	http://www.orpha.net/ORDO/Orphanet_1686
Chronic respiratory distress with surfactant metabolism deficiency	Chronic respiratory distress with surfactant metabolism deficiency	Orphanet	217566	http://www.orpha.net/ORDO/Orphanet_217566
Neonatal acute respiratory distress due to SP-B deficiency	Neonatal acute respiratory distress due to SP-B deficiency	Orphanet	217563	http://www.orpha.net/ORDO/Orphanet_217563
Hereditary hypotrichosis with recurrent skin vesicles	Hereditary hypotrichosis with recurrent skin vesicles	Orphanet	217407	http://www.orpha.net/ORDO/Orphanet_217407
Atypical coarctation of aorta	Atypical coarctation of aorta	Orphanet	1456	http://www.orpha.net/ORDO/Orphanet_1456
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	Orphanet	217467	http://www.orpha.net/ORDO/Orphanet_217467
Rare hereditary thrombophilia	Rare hereditary thrombophilia	Orphanet	217454	http://www.orpha.net/ORDO/Orphanet_217454
Aorta coarctation	Aorta coarctation	Orphanet	1457	http://www.orpha.net/ORDO/Orphanet_1457
Combined immunodeficiency due to DOCK8 deficiency	Combined immunodeficiency due to DOCK8 deficiency	Orphanet	217390	http://www.orpha.net/ORDO/Orphanet_217390
Aortic arch defects	Aortic arch defects	Orphanet	1132	http://www.orpha.net/ORDO/Orphanet_1132
17p13.3 microduplication syndrome	17p13.3 microduplication syndrome	Orphanet	217385	http://www.orpha.net/ORDO/Orphanet_217385
Abnormal origin of the pulmonary artery	Abnormal origin of the pulmonary artery	Orphanet	1138	http://www.orpha.net/ORDO/Orphanet_1138
Pulmonary atresia with ventricular septal defect	Pulmonary atresia with ventricular septal defect	Orphanet	1207	http://www.orpha.net/ORDO/Orphanet_1207
Congenital insensitivity to pain with hyperhidrosis	Congenital insensitivity to pain with hyperhidrosis	Orphanet	217399	http://www.orpha.net/ORDO/Orphanet_217399
Progressive polyneuropathy with bilateral striatal necrosis	Progressive polyneuropathy with bilateral striatal necrosis	Orphanet	217396	http://www.orpha.net/ORDO/Orphanet_217396
Pulmonary valve agenesis	Pulmonary valve agenesis	Orphanet	982	http://www.orpha.net/ORDO/Orphanet_982
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	Orphanet	217371	http://www.orpha.net/ORDO/Orphanet_217371
19q13.11 microdeletion syndrome	19q13.11 microdeletion syndrome	Orphanet	217346	http://www.orpha.net/ORDO/Orphanet_217346
Absence of the pulmonary artery	Absence of the pulmonary artery	Orphanet	980	http://www.orpha.net/ORDO/Orphanet_980
Neurodegenerative syndrome due to cerebral folate transport deficiency	Neurodegenerative syndrome due to cerebral folate transport deficiency	Orphanet	217382	http://www.orpha.net/ORDO/Orphanet_217382
Aneurysm of sinus of Valsalva	Aneurysm of sinus of Valsalva	Orphanet	1054	http://www.orpha.net/ORDO/Orphanet_1054
Coronary artery congenital malformation	Coronary artery congenital malformation	Orphanet	1081	http://www.orpha.net/ORDO/Orphanet_1081
Microduplication Xp11.22p11.23 syndrome	Microduplication Xp11.22p11.23 syndrome	Orphanet	217377	http://www.orpha.net/ORDO/Orphanet_217377
Congenital systemic veins anomaly	Congenital systemic veins anomaly	Orphanet	3091	http://www.orpha.net/ORDO/Orphanet_3091
Mitochondrial disease with dilated cardiomyopathy	Mitochondrial disease with dilated cardiomyopathy	Orphanet	217613	http://www.orpha.net/ORDO/Orphanet_217613
Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy	Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy	Orphanet	217616	http://www.orpha.net/ORDO/Orphanet_217616
Syndrome associated with dilated cardiomyopathy	Syndrome associated with dilated cardiomyopathy	Orphanet	217619	http://www.orpha.net/ORDO/Orphanet_217619
Congenital aortic valve stenosis	Congenital aortic valve stenosis	Orphanet	3093	http://www.orpha.net/ORDO/Orphanet_3093
Sensorineural deafness with dilated cardiomyopathy	Sensorineural deafness with dilated cardiomyopathy	Orphanet	217622	http://www.orpha.net/ORDO/Orphanet_217622
Fixed subaortic stenosis	Fixed subaortic stenosis	Orphanet	3092	http://www.orpha.net/ORDO/Orphanet_3092
Hypertrophic cardiomyopathy due to intensive athletic training	Hypertrophic cardiomyopathy due to intensive athletic training	Orphanet	217601	http://www.orpha.net/ORDO/Orphanet_217601
Dilated cardiomyopathy	Dilated cardiomyopathy	Orphanet	217604	http://www.orpha.net/ORDO/Orphanet_217604
Aortic arch interruption	Aortic arch interruption	Orphanet	2299	http://www.orpha.net/ORDO/Orphanet_2299
Double outlet left ventricle	Double outlet left ventricle	Orphanet	3427	http://www.orpha.net/ORDO/Orphanet_3427
Familial dilated cardiomyopathy	Familial dilated cardiomyopathy	Orphanet	217607	http://www.orpha.net/ORDO/Orphanet_217607
Neuromuscular disease with dilated cardiomyopathy	Neuromuscular disease with dilated cardiomyopathy	Orphanet	217610	http://www.orpha.net/ORDO/Orphanet_217610
Double outlet right ventricle	Double outlet right ventricle	Orphanet	3426	http://www.orpha.net/ORDO/Orphanet_3426
Isolated right ventricular hypoplasia	Isolated right ventricular hypoplasia	Orphanet	439	http://www.orpha.net/ORDO/Orphanet_439
Mitochondrial disease with hypertrophic cardiomyopathy	Mitochondrial disease with hypertrophic cardiomyopathy	Orphanet	217587	http://www.orpha.net/ORDO/Orphanet_217587
Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy	Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy	Orphanet	217591	http://www.orpha.net/ORDO/Orphanet_217591
Idiopathic/heritable pulmonary arterial hypertension	Idiopathic/heritable pulmonary arterial hypertension	Orphanet	422	http://www.orpha.net/ORDO/Orphanet_422
Syndrome associated with hypertrophic cardiomyopathy	Syndrome associated with hypertrophic cardiomyopathy	Orphanet	217595	http://www.orpha.net/ORDO/Orphanet_217595
Congenital mitral malformation	Congenital mitral malformation	Orphanet	2447	http://www.orpha.net/ORDO/Orphanet_2447
Non-familial hypertrophic cardiomyopathy	Non-familial hypertrophic cardiomyopathy	Orphanet	217598	http://www.orpha.net/ORDO/Orphanet_217598
Pulmonary arteriovenous malformation	Pulmonary arteriovenous malformation	Orphanet	2038	http://www.orpha.net/ORDO/Orphanet_2038
Hypertrophic cardiomyopathy	Hypertrophic cardiomyopathy	Orphanet	217569	http://www.orpha.net/ORDO/Orphanet_217569
Congenital aortopulmonary window	Congenital aortopulmonary window	Orphanet	2037	http://www.orpha.net/ORDO/Orphanet_2037
Glycogen storage disease with hypertrophic cardiomyopathy	Glycogen storage disease with hypertrophic cardiomyopathy	Orphanet	217572	http://www.orpha.net/ORDO/Orphanet_217572
Coronary arterial fistula	Coronary arterial fistula	Orphanet	2041	http://www.orpha.net/ORDO/Orphanet_2041
Lysosomal disease with hypertrophic cardiomyopathy	Lysosomal disease with hypertrophic cardiomyopathy	Orphanet	217581	http://www.orpha.net/ORDO/Orphanet_217581
Congenital systemic arteriovenous fistula	Congenital systemic arteriovenous fistula	Orphanet	2039	http://www.orpha.net/ORDO/Orphanet_2039
Frontotemporal dementia	Frontotemporal dementia	Orphanet	282	http://www.orpha.net/ORDO/Orphanet_282
Non-familial restrictive cardiomyopathy	Non-familial restrictive cardiomyopathy	Orphanet	217720	http://www.orpha.net/ORDO/Orphanet_217720
Congenital factor XIII deficiency	Congenital factor XIII deficiency	Orphanet	331	http://www.orpha.net/ORDO/Orphanet_331
Carnitine-acylcarnitine translocase deficiency	Carnitine-acylcarnitine translocase deficiency	Orphanet	159	http://www.orpha.net/ORDO/Orphanet_159
Primary cutaneous lymphoma	Primary cutaneous lymphoma	Orphanet	542	http://www.orpha.net/ORDO/Orphanet_542
Plague	Plague	Orphanet	707	http://www.orpha.net/ORDO/Orphanet_707
Lysosomal disease with restrictive cardiomyopathy	Lysosomal disease with restrictive cardiomyopathy	Orphanet	217638	http://www.orpha.net/ORDO/Orphanet_217638
Familial restrictive cardiomyopathy	Familial restrictive cardiomyopathy	Orphanet	217635	http://www.orpha.net/ORDO/Orphanet_217635
Congenital fibrinogen deficiency	Congenital fibrinogen deficiency	Orphanet	335	http://www.orpha.net/ORDO/Orphanet_335
Restrictive cardiomyopathy	Restrictive cardiomyopathy	Orphanet	217632	http://www.orpha.net/ORDO/Orphanet_217632
Non-familial dilated cardiomyopathy	Non-familial dilated cardiomyopathy	Orphanet	217629	http://www.orpha.net/ORDO/Orphanet_217629
Unclassified cardiomyopathy	Unclassified cardiomyopathy	Orphanet	217678	http://www.orpha.net/ORDO/Orphanet_217678
Congenital alpha2-antiplasmin deficiency	Congenital alpha2-antiplasmin deficiency	Orphanet	79	http://www.orpha.net/ORDO/Orphanet_79
Familial isolated arrhythmogenic right ventricular dysplasia	Familial isolated arrhythmogenic right ventricular dysplasia	Orphanet	217656	http://www.orpha.net/ORDO/Orphanet_217656
Anisakiasis	Anisakiasis	Orphanet	1070	http://www.orpha.net/ORDO/Orphanet_1070
Cogan syndrome	Cogan syndrome	Orphanet	1467	http://www.orpha.net/ORDO/Orphanet_1467
Histidinemia	Histidinemia	Orphanet	2157	http://www.orpha.net/ORDO/Orphanet_2157
Limited cutaneous systemic sclerosis	Limited cutaneous systemic sclerosis	Orphanet	220402	http://www.orpha.net/ORDO/Orphanet_220402
Saccharopinuria	Saccharopinuria	Orphanet	3124	http://www.orpha.net/ORDO/Orphanet_3124
Limited systemic sclerosis	Limited systemic sclerosis	Orphanet	220407	http://www.orpha.net/ORDO/Orphanet_220407
Semilobar holoprosencephaly	Semilobar holoprosencephaly	Orphanet	220386	http://www.orpha.net/ORDO/Orphanet_220386
Hyperlysinemia	Hyperlysinemia	Orphanet	2203	http://www.orpha.net/ORDO/Orphanet_2203
Diffuse cutaneous systemic sclerosis	Diffuse cutaneous systemic sclerosis	Orphanet	220393	http://www.orpha.net/ORDO/Orphanet_220393
Congenital intrinsic factor deficiency	Congenital intrinsic factor deficiency	Orphanet	332	http://www.orpha.net/ORDO/Orphanet_332
Macrothrombocytopenia with mitral valve insufficiency	Macrothrombocytopenia with mitral valve insufficiency	Orphanet	220448	http://www.orpha.net/ORDO/Orphanet_220448
Transcobalamin I deficiency	Transcobalamin I deficiency	Orphanet	2967	http://www.orpha.net/ORDO/Orphanet_2967
Isolated hereditary giant platelet disorder	Isolated hereditary giant platelet disorder	Orphanet	220452	http://www.orpha.net/ORDO/Orphanet_220452
Quebec platelet disorder	Quebec platelet disorder	Orphanet	220436	http://www.orpha.net/ORDO/Orphanet_220436
Homocarnosinosis	Homocarnosinosis	Orphanet	2168	http://www.orpha.net/ORDO/Orphanet_2168
Dicarboxylic aminoaciduria	Dicarboxylic aminoaciduria	Orphanet	2195	http://www.orpha.net/ORDO/Orphanet_2195
Bleeding diathesis due to thromboxane synthesis deficiency	Bleeding diathesis due to thromboxane synthesis deficiency	Orphanet	220443	http://www.orpha.net/ORDO/Orphanet_220443
Rare cardiac rhythm disease	Rare cardiac rhythm disease	Orphanet	218436	http://www.orpha.net/ORDO/Orphanet_218436
Non-genetic cardiac rhythm disease	Non-genetic cardiac rhythm disease	Orphanet	218439	http://www.orpha.net/ORDO/Orphanet_218439
Methylcobalamin deficiency type cblG	Methylcobalamin deficiency type cblG	Orphanet	2170	http://www.orpha.net/ORDO/Orphanet_2170
Xeroderma pigmentosum-Cockayne syndrome complex	Xeroderma pigmentosum-Cockayne syndrome complex	Orphanet	220295	http://www.orpha.net/ORDO/Orphanet_220295
Gyrate atrophy of choroid and retina	Gyrate atrophy of choroid and retina	Orphanet	414	http://www.orpha.net/ORDO/Orphanet_414
Homocystinuria without methylmalonic aciduria	Homocystinuria without methylmalonic aciduria	Orphanet	622	http://www.orpha.net/ORDO/Orphanet_622
Hyperammonemia due to N-acetylglutamate synthase deficiency	Hyperammonemia due to N-acetylglutamate synthase deficiency	Orphanet	927	http://www.orpha.net/ORDO/Orphanet_927
Transient tyrosinemia of the newborn	Transient tyrosinemia of the newborn	Orphanet	3402	http://www.orpha.net/ORDO/Orphanet_3402
Pipecolic acidemia	Pipecolic acidemia	Orphanet	34	http://www.orpha.net/ORDO/Orphanet_34
Phosphoenolpyruvate carboxykinase deficiency	Phosphoenolpyruvate carboxykinase deficiency	Orphanet	2880	http://www.orpha.net/ORDO/Orphanet_2880
D-glyceric aciduria	D-glyceric aciduria	Orphanet	941	http://www.orpha.net/ORDO/Orphanet_941
Laron syndrome with immunodeficiency	Laron syndrome with immunodeficiency	Orphanet	220465	http://www.orpha.net/ORDO/Orphanet_220465
Attenuated familial adenomatous polyposis	Attenuated familial adenomatous polyposis	Orphanet	220460	http://www.orpha.net/ORDO/Orphanet_220460
Rare hereditary hemochromatosis	Rare hereditary hemochromatosis	Orphanet	220489	http://www.orpha.net/ORDO/Orphanet_220489
2-hydroxyglutaric aciduria	2-hydroxyglutaric aciduria	Orphanet	19	http://www.orpha.net/ORDO/Orphanet_19
Pentosuria	Pentosuria	Orphanet	2843	http://www.orpha.net/ORDO/Orphanet_2843
Joubert syndrome with renal defect	Joubert syndrome with renal defect	Orphanet	220497	http://www.orpha.net/ORDO/Orphanet_220497
Cystathioninuria	Cystathioninuria	Orphanet	212	http://www.orpha.net/ORDO/Orphanet_212
Joubert syndrome with ocular defect	Joubert syndrome with ocular defect	Orphanet	220493	http://www.orpha.net/ORDO/Orphanet_220493
Lysinuric protein intolerance	Lysinuric protein intolerance	Orphanet	470	http://www.orpha.net/ORDO/Orphanet_470
Marchiafava-Bignami disease	Marchiafava-Bignami disease	Orphanet	221074	http://www.orpha.net/ORDO/Orphanet_221074
Combined hyperactive dysfunction syndrome of the cranial nerves	Combined hyperactive dysfunction syndrome of the cranial nerves	Orphanet	221078	http://www.orpha.net/ORDO/Orphanet_221078
Hereditary breast and ovarian cancer syndrome	Hereditary breast and ovarian cancer syndrome	Orphanet	145	http://www.orpha.net/ORDO/Orphanet_145
Prolactinoma	Prolactinoma	Orphanet	2965	http://www.orpha.net/ORDO/Orphanet_2965
Hemifacial spasm	Hemifacial spasm	Orphanet	221083	http://www.orpha.net/ORDO/Orphanet_221083
Trigeminal neuralgia	Trigeminal neuralgia	Orphanet	221091	http://www.orpha.net/ORDO/Orphanet_221091
Lymphangioleiomyomatosis	Lymphangioleiomyomatosis	Orphanet	538	http://www.orpha.net/ORDO/Orphanet_538
Glossopharyngeal neuralgia	Glossopharyngeal neuralgia	Orphanet	221098	http://www.orpha.net/ORDO/Orphanet_221098
Postpoliomyelitis syndrome	Postpoliomyelitis syndrome	Orphanet	2942	http://www.orpha.net/ORDO/Orphanet_2942
Isolated facial myokymia	Isolated facial myokymia	Orphanet	221106	http://www.orpha.net/ORDO/Orphanet_221106
Pterin-4 alpha-carbinolamine dehydratase deficiency	Pterin-4 alpha-carbinolamine dehydratase deficiency	Orphanet	1578	http://www.orpha.net/ORDO/Orphanet_1578
Cranial neuralgia	Cranial neuralgia	Orphanet	221109	http://www.orpha.net/ORDO/Orphanet_221109
Acquired peripheral movement disorder	Acquired peripheral movement disorder	Orphanet	221114	http://www.orpha.net/ORDO/Orphanet_221114
Isolated succinate-CoQ reductase deficiency	Isolated succinate-CoQ reductase deficiency	Orphanet	3208	http://www.orpha.net/ORDO/Orphanet_3208
Rothmund-Thomson syndrome type 1	Rothmund-Thomson syndrome type 1	Orphanet	221008	http://www.orpha.net/ORDO/Orphanet_221008
Fumaric aciduria	Fumaric aciduria	Orphanet	24	http://www.orpha.net/ORDO/Orphanet_24
Rothmund-Thomson syndrome type 2	Rothmund-Thomson syndrome type 2	Orphanet	221016	http://www.orpha.net/ORDO/Orphanet_221016
Fatal infantile cytochrome C oxidase deficiency	Fatal infantile cytochrome C oxidase deficiency	Orphanet	1561	http://www.orpha.net/ORDO/Orphanet_1561
Hereditary sclerosing poikiloderma, Weary type	Hereditary sclerosing poikiloderma, Weary type	Orphanet	221039	http://www.orpha.net/ORDO/Orphanet_221039
Isolated complex III deficiency	Isolated complex III deficiency	Orphanet	1460	http://www.orpha.net/ORDO/Orphanet_1460
Paris-Trousseau thrombocytopenia	Paris-Trousseau thrombocytopenia	Orphanet	851	http://www.orpha.net/ORDO/Orphanet_851
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome	Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome	Orphanet	221043	http://www.orpha.net/ORDO/Orphanet_221043
Poikiloderma with neutropenia	Poikiloderma with neutropenia	Orphanet	221046	http://www.orpha.net/ORDO/Orphanet_221046
Severe hereditary thrombophilia due to congenital protein C deficiency	Severe hereditary thrombophilia due to congenital protein C deficiency	Orphanet	745	http://www.orpha.net/ORDO/Orphanet_745
Acrocephalopolydactyly	Acrocephalopolydactyly	Orphanet	221054	http://www.orpha.net/ORDO/Orphanet_221054
Familial cerebral cavernous malformation	Familial cerebral cavernous malformation	Orphanet	221061	http://www.orpha.net/ORDO/Orphanet_221061
Glanzmann thrombasthenia	Glanzmann thrombasthenia	Orphanet	849	http://www.orpha.net/ORDO/Orphanet_849
Familial infantile bilateral striatal necrosis	Familial infantile bilateral striatal necrosis	Orphanet	225154	http://www.orpha.net/ORDO/Orphanet_225154
Hemochromatosis type 3	Hemochromatosis type 3	Orphanet	225123	http://www.orpha.net/ORDO/Orphanet_225123
Sporadic infantile bilateral striatal necrosis	Sporadic infantile bilateral striatal necrosis	Orphanet	225147	http://www.orpha.net/ORDO/Orphanet_225147
Hereditary poikiloderma	Hereditary poikiloderma	Orphanet	222628	http://www.orpha.net/ORDO/Orphanet_222628
Mitochondrial oxidative phosphorylation disorder	Mitochondrial oxidative phosphorylation disorder	Orphanet	223713	http://www.orpha.net/ORDO/Orphanet_223713
Lymphoma	Lymphoma	Orphanet	223735	http://www.orpha.net/ORDO/Orphanet_223735
Bone sarcoma	Bone sarcoma	Orphanet	223727	http://www.orpha.net/ORDO/Orphanet_223727
Gerstmann syndrome	Gerstmann syndrome	Orphanet	221117	http://www.orpha.net/ORDO/Orphanet_221117
Pseudoaminopterin syndrome	Pseudoaminopterin syndrome	Orphanet	221120	http://www.orpha.net/ORDO/Orphanet_221120
Fowler vasculopaty	Fowler vasculopaty	Orphanet	221126	http://www.orpha.net/ORDO/Orphanet_221126
Combined immunodeficiency with faciooculoskeletal anomalies	Combined immunodeficiency with faciooculoskeletal anomalies	Orphanet	221139	http://www.orpha.net/ORDO/Orphanet_221139
Confetti-like macular atrophy	Confetti-like macular atrophy	Orphanet	221142	http://www.orpha.net/ORDO/Orphanet_221142
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Orphanet	221145	http://www.orpha.net/ORDO/Orphanet_221145
Pitt-Hopkins-like syndrome	Pitt-Hopkins-like syndrome	Orphanet	221150	http://www.orpha.net/ORDO/Orphanet_221150
Severe combined immunodeficiency due to CORO1A deficiency	Severe combined immunodeficiency due to CORO1A deficiency	Orphanet	228003	http://www.orpha.net/ORDO/Orphanet_228003
Thymic epithelial neoplasm	Thymic epithelial neoplasm	Orphanet	3398	http://www.orpha.net/ORDO/Orphanet_3398
Idiopathic CD4 lymphocytopenia	Idiopathic CD4 lymphocytopenia	Orphanet	228000	http://www.orpha.net/ORDO/Orphanet_228000
Non-Hodgkin lymphoma	Non-Hodgkin lymphoma	Orphanet	547	http://www.orpha.net/ORDO/Orphanet_547
Autoimmune polyendocrinopathy type 4	Autoimmune polyendocrinopathy type 4	Orphanet	227990	http://www.orpha.net/ORDO/Orphanet_227990
Testicular seminomatous germ cell tumor	Testicular seminomatous germ cell tumor	Orphanet	842	http://www.orpha.net/ORDO/Orphanet_842
Autoimmune polyendocrinopathy type 3	Autoimmune polyendocrinopathy type 3	Orphanet	227982	http://www.orpha.net/ORDO/Orphanet_227982
Autosomal recessive optic atrophy, OPA7 type	Autosomal recessive optic atrophy, OPA7 type	Orphanet	227976	http://www.orpha.net/ORDO/Orphanet_227976
Yolk sac tumor	Yolk sac tumor	Orphanet	876	http://www.orpha.net/ORDO/Orphanet_876
Toxic oil syndrome	Toxic oil syndrome	Orphanet	227972	http://www.orpha.net/ORDO/Orphanet_227972
Extragonadal teratoma	Extragonadal teratoma	Orphanet	883	http://www.orpha.net/ORDO/Orphanet_883
Fundus albipunctatus	Fundus albipunctatus	Orphanet	227796	http://www.orpha.net/ORDO/Orphanet_227796
Coccidioidomycosis	Coccidioidomycosis	Orphanet	228123	http://www.orpha.net/ORDO/Orphanet_228123
Fusariosis	Fusariosis	Orphanet	228119	http://www.orpha.net/ORDO/Orphanet_228119
Hughes-Stovin syndrome	Hughes-Stovin syndrome	Orphanet	228116	http://www.orpha.net/ORDO/Orphanet_228116
Anal fistula	Anal fistula	Orphanet	228113	http://www.orpha.net/ORDO/Orphanet_228113
Germ cell tumor	Germ cell tumor	Orphanet	3399	http://www.orpha.net/ORDO/Orphanet_3399
Langerhans cell histiocytosis	Langerhans cell histiocytosis	Orphanet	389	http://www.orpha.net/ORDO/Orphanet_389
Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome	Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome	Orphanet	228012	http://www.orpha.net/ORDO/Orphanet_228012
Medulloblastoma	Medulloblastoma	Orphanet	616	http://www.orpha.net/ORDO/Orphanet_616
Ependymal tumor	Ependymal tumor	Orphanet	301	http://www.orpha.net/ORDO/Orphanet_301
Primary cutaneous CD30+ T-cell lymphoproliferative disease	Primary cutaneous CD30+ T-cell lymphoproliferative disease	Orphanet	541	http://www.orpha.net/ORDO/Orphanet_541
Burkitt lymphoma	Burkitt lymphoma	Orphanet	543	http://www.orpha.net/ORDO/Orphanet_543
Skeletal Ewing sarcoma	Skeletal Ewing sarcoma	Orphanet	319	http://www.orpha.net/ORDO/Orphanet_319
Hereditary breast cancer	Hereditary breast cancer	Orphanet	227535	http://www.orpha.net/ORDO/Orphanet_227535
Osteosarcoma	Osteosarcoma	Orphanet	668	http://www.orpha.net/ORDO/Orphanet_668
Multiple system atrophy, cerebellar type	Multiple system atrophy, cerebellar type	Orphanet	227510	http://www.orpha.net/ORDO/Orphanet_227510
Astrocytoma	Astrocytoma	Orphanet	94	http://www.orpha.net/ORDO/Orphanet_94
Glioblastoma	Glioblastoma	Orphanet	360	http://www.orpha.net/ORDO/Orphanet_360
Permanent congenital hypothyroidism	Permanent congenital hypothyroidism	Orphanet	226292	http://www.orpha.net/ORDO/Orphanet_226292
Acute lymphoblastic leukemia	Acute lymphoblastic leukemia	Orphanet	513	http://www.orpha.net/ORDO/Orphanet_513
Esthesioneuroblastoma	Esthesioneuroblastoma	Orphanet	1957	http://www.orpha.net/ORDO/Orphanet_1957
Central congenital hypothyroidism	Central congenital hypothyroidism	Orphanet	226298	http://www.orpha.net/ORDO/Orphanet_226298
Fibrosarcoma	Fibrosarcoma	Orphanet	2030	http://www.orpha.net/ORDO/Orphanet_2030
Solitary fibrous tumour/hemangiopericytoma	Solitary fibrous tumour/hemangiopericytoma	Orphanet	2126	http://www.orpha.net/ORDO/Orphanet_2126
Primary congenital hypothyroidism	Primary congenital hypothyroidism	Orphanet	226295	http://www.orpha.net/ORDO/Orphanet_226295
Pseudoxanthoma elasticum	Pseudoxanthoma elasticum	Orphanet	758	http://www.orpha.net/ORDO/Orphanet_758
Hyperprolinemia type 1	Hyperprolinemia type 1	Orphanet	419	http://www.orpha.net/ORDO/Orphanet_419
Adrenocortical carcinoma	Adrenocortical carcinoma	Orphanet	1501	http://www.orpha.net/ORDO/Orphanet_1501
Genetic transient congenital hypothyroidism	Genetic transient congenital hypothyroidism	Orphanet	226316	http://www.orpha.net/ORDO/Orphanet_226316
Hypothyroidism due to deficient transcription factors involved in pituitary development or function	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	Orphanet	226307	http://www.orpha.net/ORDO/Orphanet_226307
Malignant peripheral nerve sheath tumor	Malignant peripheral nerve sheath tumor	Orphanet	3148	http://www.orpha.net/ORDO/Orphanet_3148
Synovial sarcoma	Synovial sarcoma	Orphanet	3273	http://www.orpha.net/ORDO/Orphanet_3273
Congenital hypothyroidism due to maternal intake of antithyroid drugs	Congenital hypothyroidism due to maternal intake of antithyroid drugs	Orphanet	226313	http://www.orpha.net/ORDO/Orphanet_226313
Peripheral hypothyroidism	Peripheral hypothyroidism	Orphanet	226310	http://www.orpha.net/ORDO/Orphanet_226310
Classic Hodgkin lymphoma	Classic Hodgkin lymphoma	Orphanet	391	http://www.orpha.net/ORDO/Orphanet_391
Oligomeganephronia	Oligomeganephronia	Orphanet	2260	http://www.orpha.net/ORDO/Orphanet_2260
Amino acid or protein metabolism disease with epilepsy	Amino acid or protein metabolism disease with epilepsy	Orphanet	225689	http://www.orpha.net/ORDO/Orphanet_225689
Metal transport or utilization disorder with epilepsy	Metal transport or utilization disorder with epilepsy	Orphanet	225692	http://www.orpha.net/ORDO/Orphanet_225692
Larsen syndrome	Larsen syndrome	Orphanet	503	http://www.orpha.net/ORDO/Orphanet_503
Dent disease	Dent disease	Orphanet	1652	http://www.orpha.net/ORDO/Orphanet_1652
Energy metabolism disorder with epilepsy	Energy metabolism disorder with epilepsy	Orphanet	225696	http://www.orpha.net/ORDO/Orphanet_225696
Mitochondrial disease with epilepsy	Mitochondrial disease with epilepsy	Orphanet	225700	http://www.orpha.net/ORDO/Orphanet_225700
Isolated microphthalmia-anophthalmia-coloboma	Isolated microphthalmia-anophthalmia-coloboma	Orphanet	2542	http://www.orpha.net/ORDO/Orphanet_2542
Syringomyelia	Syringomyelia	Orphanet	3280	http://www.orpha.net/ORDO/Orphanet_3280
Megalencephalic leukoencephalopathy with subcortical cysts	Megalencephalic leukoencephalopathy with subcortical cysts	Orphanet	2478	http://www.orpha.net/ORDO/Orphanet_2478
Lysosomal disease with epilepsy	Lysosomal disease with epilepsy	Orphanet	225681	http://www.orpha.net/ORDO/Orphanet_225681
Peroxisomal disease with epilepsy	Peroxisomal disease with epilepsy	Orphanet	225686	http://www.orpha.net/ORDO/Orphanet_225686
Primary Fanconi renotubular syndrome	Primary Fanconi renotubular syndrome	Orphanet	3337	http://www.orpha.net/ORDO/Orphanet_3337
Nephrogenic diabetes insipidus	Nephrogenic diabetes insipidus	Orphanet	223	http://www.orpha.net/ORDO/Orphanet_223
Mitochondrial disease with peripheral neuropathy	Mitochondrial disease with peripheral neuropathy	Orphanet	225703	http://www.orpha.net/ORDO/Orphanet_225703
Metabolic neurotransmission anomaly with epilepsy	Metabolic neurotransmission anomaly with epilepsy	Orphanet	225707	http://www.orpha.net/ORDO/Orphanet_225707
Sterol metabolism disorder with epilepsy	Sterol metabolism disorder with epilepsy	Orphanet	225710	http://www.orpha.net/ORDO/Orphanet_225710
Pseudohypoaldosteronism type 2	Pseudohypoaldosteronism type 2	Orphanet	757	http://www.orpha.net/ORDO/Orphanet_757
Other metabolic disease with epilepsy	Other metabolic disease with epilepsy	Orphanet	225713	http://www.orpha.net/ORDO/Orphanet_225713
Monocytopenia with susceptibility to infections	Monocytopenia with susceptibility to infections	Orphanet	228423	http://www.orpha.net/ORDO/Orphanet_228423
Chronic myeloid leukemia	Chronic myeloid leukemia	Orphanet	521	http://www.orpha.net/ORDO/Orphanet_521
5q35 microduplication syndrome	5q35 microduplication syndrome	Orphanet	228415	http://www.orpha.net/ORDO/Orphanet_228415
Butyrylcholinesterase deficiency	Butyrylcholinesterase deficiency	Orphanet	132	http://www.orpha.net/ORDO/Orphanet_132
Autosomal recessive cerebellar ataxia	Autosomal recessive cerebellar ataxia	Orphanet	1172	http://www.orpha.net/ORDO/Orphanet_1172
Isolated agammaglobulinemia	Isolated agammaglobulinemia	Orphanet	229717	http://www.orpha.net/ORDO/Orphanet_229717
Syndromic agammaglobulinemia	Syndromic agammaglobulinemia	Orphanet	229720	http://www.orpha.net/ORDO/Orphanet_229720
Syndromic multisystem autoimmune disease due to Itch deficiency	Syndromic multisystem autoimmune disease due to Itch deficiency	Orphanet	228426	http://www.orpha.net/ORDO/Orphanet_228426
Isolated Klippel-Feil syndrome	Isolated Klippel-Feil syndrome	Orphanet	2345	http://www.orpha.net/ORDO/Orphanet_2345
Familial pancreatic carcinoma	Familial pancreatic carcinoma	Orphanet	1333	http://www.orpha.net/ORDO/Orphanet_1333
Generalized congenital lipodystrophy with myopathy	Generalized congenital lipodystrophy with myopathy	Orphanet	228429	http://www.orpha.net/ORDO/Orphanet_228429
Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome	Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome	Orphanet	228396	http://www.orpha.net/ORDO/Orphanet_228396
NON RARE IN EUROPE: Familial otosclerosis	NON RARE IN EUROPE: Familial otosclerosis	Orphanet	2794	http://www.orpha.net/ORDO/Orphanet_2794
Spondylo-megaepiphyseal-metaphyseal dysplasia	Spondylo-megaepiphyseal-metaphyseal dysplasia	Orphanet	228387	http://www.orpha.net/ORDO/Orphanet_228387
Frontonasal dysplasia-alopecia-genital anomalies syndrome	Frontonasal dysplasia-alopecia-genital anomalies syndrome	Orphanet	228390	http://www.orpha.net/ORDO/Orphanet_228390
Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome	Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome	Orphanet	228407	http://www.orpha.net/ORDO/Orphanet_228407
Polyvalvular heart disease syndrome	Polyvalvular heart disease syndrome	Orphanet	228410	http://www.orpha.net/ORDO/Orphanet_228410
8q12 microduplication syndrome	8q12 microduplication syndrome	Orphanet	228399	http://www.orpha.net/ORDO/Orphanet_228399
Osteopetrosis and related disorders	Osteopetrosis and related disorders	Orphanet	2781	http://www.orpha.net/ORDO/Orphanet_2781
2q23.1 microdeletion syndrome	2q23.1 microdeletion syndrome	Orphanet	228402	http://www.orpha.net/ORDO/Orphanet_228402
CLN7 disease	CLN7 disease	Orphanet	228366	http://www.orpha.net/ORDO/Orphanet_228366
CLN6 disease	CLN6 disease	Orphanet	228363	http://www.orpha.net/ORDO/Orphanet_228363
CLN5 disease	CLN5 disease	Orphanet	228360	http://www.orpha.net/ORDO/Orphanet_228360
CLN9 disease	CLN9 disease	Orphanet	228357	http://www.orpha.net/ORDO/Orphanet_228357
5q14.3 microdeletion syndrome	5q14.3 microdeletion syndrome	Orphanet	228384	http://www.orpha.net/ORDO/Orphanet_228384
Virus-associated trichodysplasia spinulosa	Virus-associated trichodysplasia spinulosa	Orphanet	228379	http://www.orpha.net/ORDO/Orphanet_228379
Charcot-Marie-Tooth disease type 2B5	Charcot-Marie-Tooth disease type 2B5	Orphanet	228374	http://www.orpha.net/ORDO/Orphanet_228374
Foodborne botulism	Foodborne botulism	Orphanet	228371	http://www.orpha.net/ORDO/Orphanet_228371
CLN4A disease	CLN4A disease	Orphanet	228340	http://www.orpha.net/ORDO/Orphanet_228340
CLN10 disease	CLN10 disease	Orphanet	228337	http://www.orpha.net/ORDO/Orphanet_228337
CLN1 disease	CLN1 disease	Orphanet	228329	http://www.orpha.net/ORDO/Orphanet_228329
CLN8 disease	CLN8 disease	Orphanet	228354	http://www.orpha.net/ORDO/Orphanet_228354
CLN2 disease	CLN2 disease	Orphanet	228349	http://www.orpha.net/ORDO/Orphanet_228349
CLN3 disease	CLN3 disease	Orphanet	228346	http://www.orpha.net/ORDO/Orphanet_228346
CLN4B disease	CLN4B disease	Orphanet	228343	http://www.orpha.net/ORDO/Orphanet_228343
White fibrous papulosis of the neck	White fibrous papulosis of the neck	Orphanet	228290	http://www.orpha.net/ORDO/Orphanet_228290
Pseudoxanthoma elasticum-like papillary dermal elastolysis	Pseudoxanthoma elasticum-like papillary dermal elastolysis	Orphanet	228293	http://www.orpha.net/ORDO/Orphanet_228293
Mid-dermal elastolysis	Mid-dermal elastolysis	Orphanet	228299	http://www.orpha.net/ORDO/Orphanet_228299
Carnitine palmitoyl transferase II deficiency, myopathic form	Carnitine palmitoyl transferase II deficiency, myopathic form	Orphanet	228302	http://www.orpha.net/ORDO/Orphanet_228302
Carnitine palmitoyl transferase II deficiency, severe infantile form	Carnitine palmitoyl transferase II deficiency, severe infantile form	Orphanet	228305	http://www.orpha.net/ORDO/Orphanet_228305
Carnitine palmitoyl transferase II deficiency, neonatal form	Carnitine palmitoyl transferase II deficiency, neonatal form	Orphanet	228308	http://www.orpha.net/ORDO/Orphanet_228308
Autoimmune hemolytic anemia, cold type	Autoimmune hemolytic anemia, cold type	Orphanet	228312	http://www.orpha.net/ORDO/Orphanet_228312
Elastoderma	Elastoderma	Orphanet	228240	http://www.orpha.net/ORDO/Orphanet_228240
CACH syndrome	CACH syndrome	Orphanet	135	http://www.orpha.net/ORDO/Orphanet_135
Elastofibroma dorsi	Elastofibroma dorsi	Orphanet	228243	http://www.orpha.net/ORDO/Orphanet_228243
Acquired pseudoxanthoma elasticum	Acquired pseudoxanthoma elasticum	Orphanet	228247	http://www.orpha.net/ORDO/Orphanet_228247
Elastoma	Elastoma	Orphanet	228254	http://www.orpha.net/ORDO/Orphanet_228254
Papular elastorrhexis	Papular elastorrhexis	Orphanet	228264	http://www.orpha.net/ORDO/Orphanet_228264
Primary anetoderma	Primary anetoderma	Orphanet	228272	http://www.orpha.net/ORDO/Orphanet_228272
Familial anetoderma	Familial anetoderma	Orphanet	228277	http://www.orpha.net/ORDO/Orphanet_228277
Acquired cutis laxa	Acquired cutis laxa	Orphanet	228285	http://www.orpha.net/ORDO/Orphanet_228285
Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome	Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome	Orphanet	228190	http://www.orpha.net/ORDO/Orphanet_228190
Overhydrated hereditary stomatocytosis	Overhydrated hereditary stomatocytosis	Orphanet	3203	http://www.orpha.net/ORDO/Orphanet_3203
Dehydrated hereditary stomatocytosis	Dehydrated hereditary stomatocytosis	Orphanet	3202	http://www.orpha.net/ORDO/Orphanet_3202
Acquired dermis elastic tissue disorder	Acquired dermis elastic tissue disorder	Orphanet	228218	http://www.orpha.net/ORDO/Orphanet_228218
Genetic dermis elastic tissue disorder	Genetic dermis elastic tissue disorder	Orphanet	228215	http://www.orpha.net/ORDO/Orphanet_228215
Acquired dermis elastic tissue disorder with increased elastic tissue	Acquired dermis elastic tissue disorder with increased elastic tissue	Orphanet	228224	http://www.orpha.net/ORDO/Orphanet_228224
Acquired dermis elastic tissue disorder with decreased elastic tissue	Acquired dermis elastic tissue disorder with decreased elastic tissue	Orphanet	228221	http://www.orpha.net/ORDO/Orphanet_228221
Benign focal seizures of adolescence	Benign focal seizures of adolescence	Orphanet	1544	http://www.orpha.net/ORDO/Orphanet_1544
Linear focal elastosis	Linear focal elastosis	Orphanet	228236	http://www.orpha.net/ORDO/Orphanet_228236
Late-onset focal dermal elastosis	Late-onset focal dermal elastosis	Orphanet	228227	http://www.orpha.net/ORDO/Orphanet_228227
Multiple sclerosis variant	Multiple sclerosis variant	Orphanet	228145	http://www.orpha.net/ORDO/Orphanet_228145
Idiopathic ventricular fibrillation, non Brugada type	Idiopathic ventricular fibrillation, non Brugada type	Orphanet	228140	http://www.orpha.net/ORDO/Orphanet_228140
X-linked Alport syndrome-diffuse leiomyomatosis	X-linked Alport syndrome-diffuse leiomyomatosis	Orphanet	1018	http://www.orpha.net/ORDO/Orphanet_1018
Baló concentric sclerosis	Baló concentric sclerosis	Orphanet	228165	http://www.orpha.net/ORDO/Orphanet_228165
Benign familial infantile epilepsy	Benign familial infantile epilepsy	Orphanet	306	http://www.orpha.net/ORDO/Orphanet_306
Marburg acute multiple sclerosis	Marburg acute multiple sclerosis	Orphanet	228157	http://www.orpha.net/ORDO/Orphanet_228157
Congenital factor X deficiency	Congenital factor X deficiency	Orphanet	328	http://www.orpha.net/ORDO/Orphanet_328
Autosomal dominant Charcot-Marie-Tooth disease type 2N	Autosomal dominant Charcot-Marie-Tooth disease type 2N	Orphanet	228174	http://www.orpha.net/ORDO/Orphanet_228174
Autosomal dominant striatal neurodegeneration	Autosomal dominant striatal neurodegeneration	Orphanet	228169	http://www.orpha.net/ORDO/Orphanet_228169
Hemoglobin C disease	Hemoglobin C disease	Orphanet	2132	http://www.orpha.net/ORDO/Orphanet_2132
Hemoglobin E disease	Hemoglobin E disease	Orphanet	2133	http://www.orpha.net/ORDO/Orphanet_2133
Heart-hand syndrome	Heart-hand syndrome	Orphanet	228184	http://www.orpha.net/ORDO/Orphanet_228184
Autosomal dominant Charcot-Marie-Tooth disease type 2M	Autosomal dominant Charcot-Marie-Tooth disease type 2M	Orphanet	228179	http://www.orpha.net/ORDO/Orphanet_228179
Hereditary elliptocytosis	Hereditary elliptocytosis	Orphanet	288	http://www.orpha.net/ORDO/Orphanet_288
NON RARE IN EUROPE: Pseudoarylsulfatase A deficiency	NON RARE IN EUROPE: Pseudoarylsulfatase A deficiency	Orphanet	751	http://www.orpha.net/ORDO/Orphanet_751
Hermansky-Pudlak syndrome type 7	Hermansky-Pudlak syndrome type 7	Orphanet	231531	http://www.orpha.net/ORDO/Orphanet_231531
Hermansky-Pudlak syndrome type 8	Hermansky-Pudlak syndrome type 8	Orphanet	231537	http://www.orpha.net/ORDO/Orphanet_231537
Hermansky-Pudlak syndrome without pulmonary fibrosis	Hermansky-Pudlak syndrome without pulmonary fibrosis	Orphanet	231512	http://www.orpha.net/ORDO/Orphanet_231512
Idiopathic camptocormia	Idiopathic camptocormia	Orphanet	1320	http://www.orpha.net/ORDO/Orphanet_1320
Early-onset generalized limb-onset dystonia	Early-onset generalized limb-onset dystonia	Orphanet	256	http://www.orpha.net/ORDO/Orphanet_256
Hermansky-Pudlak syndrome with pulmonary fibrosis	Hermansky-Pudlak syndrome with pulmonary fibrosis	Orphanet	231500	http://www.orpha.net/ORDO/Orphanet_231500
Pure autonomic failure	Pure autonomic failure	Orphanet	441	http://www.orpha.net/ORDO/Orphanet_441
Acute pandysautonomia	Acute pandysautonomia	Orphanet	231457	http://www.orpha.net/ORDO/Orphanet_231457
Acute sensory ataxic neuropathy	Acute sensory ataxic neuropathy	Orphanet	231466	http://www.orpha.net/ORDO/Orphanet_231466
Infantile bilateral striatal necrosis	Infantile bilateral striatal necrosis	Orphanet	1576	http://www.orpha.net/ORDO/Orphanet_1576
Paraparetic variant of Guillain-Barré syndrome	Paraparetic variant of Guillain-Barré syndrome	Orphanet	231445	http://www.orpha.net/ORDO/Orphanet_231445
Acute pure sensory neuropathy	Acute pure sensory neuropathy	Orphanet	231450	http://www.orpha.net/ORDO/Orphanet_231450
Narcolepsy type 1	Narcolepsy type 1	Orphanet	2073	http://www.orpha.net/ORDO/Orphanet_2073
Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome	Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome	Orphanet	231426	http://www.orpha.net/ORDO/Orphanet_231426
Regional variant of Guillain-Barré syndrome	Regional variant of Guillain-Barré syndrome	Orphanet	231416	http://www.orpha.net/ORDO/Orphanet_231416
Functional variant of Guillain-Barré syndrome	Functional variant of Guillain-Barré syndrome	Orphanet	231419	http://www.orpha.net/ORDO/Orphanet_231419
Alpha-thalassemia-myelodysplastic syndrome	Alpha-thalassemia-myelodysplastic syndrome	Orphanet	231401	http://www.orpha.net/ORDO/Orphanet_231401
Variant of Guillain-Barré syndrome	Variant of Guillain-Barré syndrome	Orphanet	231413	http://www.orpha.net/ORDO/Orphanet_231413
Focal, segmental or multifocal dystonia	Focal, segmental or multifocal dystonia	Orphanet	1866	http://www.orpha.net/ORDO/Orphanet_1866
Linear verrucous nevus syndrome	Linear verrucous nevus syndrome	Orphanet	2611	http://www.orpha.net/ORDO/Orphanet_2611
Beta-thalassemia-X-linked thrombocytopenia syndrome	Beta-thalassemia-X-linked thrombocytopenia syndrome	Orphanet	231393	http://www.orpha.net/ORDO/Orphanet_231393
Mixed connective tissue disease	Mixed connective tissue disease	Orphanet	809	http://www.orpha.net/ORDO/Orphanet_809
Beta-thalassemia with other manifestations	Beta-thalassemia with other manifestations	Orphanet	231386	http://www.orpha.net/ORDO/Orphanet_231386
Beta-thalassemia-trichothiodystrophy syndrome	Beta-thalassemia-trichothiodystrophy syndrome	Orphanet	231256	http://www.orpha.net/ORDO/Orphanet_231256
Medullary sponge kidney	Medullary sponge kidney	Orphanet	1309	http://www.orpha.net/ORDO/Orphanet_1309
Hemoglobin E-beta-thalassemia syndrome	Hemoglobin E-beta-thalassemia syndrome	Orphanet	231249	http://www.orpha.net/ORDO/Orphanet_231249
Hemoglobin C-beta-thalassemia syndrome	Hemoglobin C-beta-thalassemia syndrome	Orphanet	231242	http://www.orpha.net/ORDO/Orphanet_231242
Idiopathic hypercalciuria	Idiopathic hypercalciuria	Orphanet	2197	http://www.orpha.net/ORDO/Orphanet_2197
Delta-beta-thalassemia	Delta-beta-thalassemia	Orphanet	231237	http://www.orpha.net/ORDO/Orphanet_231237
Beta-thalassemia associated with another hemoglobin anomaly	Beta-thalassemia associated with another hemoglobin anomaly	Orphanet	231230	http://www.orpha.net/ORDO/Orphanet_231230
Dominant beta-thalassemia	Dominant beta-thalassemia	Orphanet	231226	http://www.orpha.net/ORDO/Orphanet_231226
Distal renal tubular acidosis	Distal renal tubular acidosis	Orphanet	18	http://www.orpha.net/ORDO/Orphanet_18
Beta-thalassemia intermedia	Beta-thalassemia intermedia	Orphanet	231222	http://www.orpha.net/ORDO/Orphanet_231222
Castleman disease	Castleman disease	Orphanet	160	http://www.orpha.net/ORDO/Orphanet_160
Beta-thalassemia major	Beta-thalassemia major	Orphanet	231214	http://www.orpha.net/ORDO/Orphanet_231214
Familial benign chronic pemphigus	Familial benign chronic pemphigus	Orphanet	2841	http://www.orpha.net/ORDO/Orphanet_2841
Usher syndrome type 3	Usher syndrome type 3	Orphanet	231183	http://www.orpha.net/ORDO/Orphanet_231183
Frasier syndrome	Frasier syndrome	Orphanet	347	http://www.orpha.net/ORDO/Orphanet_347
Usher syndrome type 2	Usher syndrome type 2	Orphanet	231178	http://www.orpha.net/ORDO/Orphanet_231178
Chronic diarrhea with villous atrophy	Chronic diarrhea with villous atrophy	Orphanet	1670	http://www.orpha.net/ORDO/Orphanet_1670
Combined immunodeficiency due to partial RAG1 deficiency	Combined immunodeficiency due to partial RAG1 deficiency	Orphanet	231154	http://www.orpha.net/ORDO/Orphanet_231154
Myopathy and diabetes mellitus	Myopathy and diabetes mellitus	Orphanet	2596	http://www.orpha.net/ORDO/Orphanet_2596
Properdin deficiency	Properdin deficiency	Orphanet	2966	http://www.orpha.net/ORDO/Orphanet_2966
Familial cerebral saccular aneurysm	Familial cerebral saccular aneurysm	Orphanet	231160	http://www.orpha.net/ORDO/Orphanet_231160
Usher syndrome type 1	Usher syndrome type 1	Orphanet	231169	http://www.orpha.net/ORDO/Orphanet_231169
Silver-Russell syndrome due to 7p11.2p13 microduplication	Silver-Russell syndrome due to 7p11.2p13 microduplication	Orphanet	231137	http://www.orpha.net/ORDO/Orphanet_231137
Silver-Russell syndrome due to an imprinting defect of 11p15	Silver-Russell syndrome due to an imprinting defect of 11p15	Orphanet	231140	http://www.orpha.net/ORDO/Orphanet_231140
Silver-Russell syndrome due to 11p15 microduplication	Silver-Russell syndrome due to 11p15 microduplication	Orphanet	231144	http://www.orpha.net/ORDO/Orphanet_231144
Anti-HLA hyperimmunization	Anti-HLA hyperimmunization	Orphanet	2194	http://www.orpha.net/ORDO/Orphanet_2194
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11	Orphanet	231147	http://www.orpha.net/ORDO/Orphanet_231147
Beckwith-Wiedemann syndrome due to CDKN1C mutation	Beckwith-Wiedemann syndrome due to CDKN1C mutation	Orphanet	231120	http://www.orpha.net/ORDO/Orphanet_231120
Beckwith-Wiedemann syndrome due to 11p15 microdeletion	Beckwith-Wiedemann syndrome due to 11p15 microdeletion	Orphanet	231127	http://www.orpha.net/ORDO/Orphanet_231127
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion	Orphanet	231130	http://www.orpha.net/ORDO/Orphanet_231130
High-grade dysplasia in patients with Barrett esophagus	High-grade dysplasia in patients with Barrett esophagus	Orphanet	231080	http://www.orpha.net/ORDO/Orphanet_231080
Familial rhabdoid tumor	Familial rhabdoid tumor	Orphanet	231108	http://www.orpha.net/ORDO/Orphanet_231108
Familial hypocalciuric hypercalcemia	Familial hypocalciuric hypercalcemia	Orphanet	405	http://www.orpha.net/ORDO/Orphanet_405
Drug-induced lupus erythematosus	Drug-induced lupus erythematosus	Orphanet	231111	http://www.orpha.net/ORDO/Orphanet_231111
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15	Orphanet	231117	http://www.orpha.net/ORDO/Orphanet_231117
Balantidiasis	Balantidiasis	Orphanet	1223	http://www.orpha.net/ORDO/Orphanet_1223
Familial generalized lentiginosis	Familial generalized lentiginosis	Orphanet	231040	http://www.orpha.net/ORDO/Orphanet_231040
Essential thrombocythemia	Essential thrombocythemia	Orphanet	3318	http://www.orpha.net/ORDO/Orphanet_3318
Ehlers-Danlos/osteogenesis imperfecta syndrome	Ehlers-Danlos/osteogenesis imperfecta syndrome	Orphanet	230857	http://www.orpha.net/ORDO/Orphanet_230857
Cardiac-valvular Ehlers-Danlos syndrome	Cardiac-valvular Ehlers-Danlos syndrome	Orphanet	230851	http://www.orpha.net/ORDO/Orphanet_230851
Erythema palmare hereditarium	Erythema palmare hereditarium	Orphanet	231031	http://www.orpha.net/ORDO/Orphanet_231031
Zollinger-Ellison syndrome	Zollinger-Ellison syndrome	Orphanet	913	http://www.orpha.net/ORDO/Orphanet_913
Congenital trigeminal anesthesia	Congenital trigeminal anesthesia	Orphanet	231013	http://www.orpha.net/ORDO/Orphanet_231013
Toxin-mediated infectious botulism	Toxin-mediated infectious botulism	Orphanet	230800	http://www.orpha.net/ORDO/Orphanet_230800
Vascular-like classical Ehlers-Danlos syndrome	Vascular-like classical Ehlers-Danlos syndrome	Orphanet	230845	http://www.orpha.net/ORDO/Orphanet_230845
Hereditary thrombophilia due to congenital antithrombin deficiency	Hereditary thrombophilia due to congenital antithrombin deficiency	Orphanet	82	http://www.orpha.net/ORDO/Orphanet_82
Classical-like Ehlers-Danlos syndrome type 1	Classical-like Ehlers-Danlos syndrome type 1	Orphanet	230839	http://www.orpha.net/ORDO/Orphanet_230839
Acute myeloid leukemia	Acute myeloid leukemia	Orphanet	519	http://www.orpha.net/ORDO/Orphanet_519
Rare genetic vascular disease	Rare genetic vascular disease	Orphanet	233655	http://www.orpha.net/ORDO/Orphanet_233655
Congenital vascular bone syndrome	Congenital vascular bone syndrome	Orphanet	235832	http://www.orpha.net/ORDO/Orphanet_235832
Familial hyperaldosteronism	Familial hyperaldosteronism	Orphanet	235936	http://www.orpha.net/ORDO/Orphanet_235936
Infundibulo-neurohypophysitis	Infundibulo-neurohypophysitis	Orphanet	238305	http://www.orpha.net/ORDO/Orphanet_238305
AApoAII amyloidosis	AApoAII amyloidosis	Orphanet	238269	http://www.orpha.net/ORDO/Orphanet_238269
15q11q13 microduplication syndrome	15q11q13 microduplication syndrome	Orphanet	238446	http://www.orpha.net/ORDO/Orphanet_238446
Severe X-linked mitochondrial encephalomyopathy	Severe X-linked mitochondrial encephalomyopathy	Orphanet	238329	http://www.orpha.net/ORDO/Orphanet_238329
Congenital erosive and vesicular dermatosis	Congenital erosive and vesicular dermatosis	Orphanet	231573	http://www.orpha.net/ORDO/Orphanet_231573
Primary unilateral adrenal hyperplasia	Primary unilateral adrenal hyperplasia	Orphanet	231580	http://www.orpha.net/ORDO/Orphanet_231580
Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome	Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome	Orphanet	231556	http://www.orpha.net/ORDO/Orphanet_231556
Generalized dominant dystrophic epidermolysis bullosa	Generalized dominant dystrophic epidermolysis bullosa	Orphanet	231568	http://www.orpha.net/ORDO/Orphanet_231568
Ectopic aldosterone-producing tumor	Ectopic aldosterone-producing tumor	Orphanet	231632	http://www.orpha.net/ORDO/Orphanet_231632
Rare surgically correctable form of primary aldosteronism	Rare surgically correctable form of primary aldosteronism	Orphanet	231637	http://www.orpha.net/ORDO/Orphanet_231637
Adrenocortical carcinoma with pure aldosterone hypersecretion	Adrenocortical carcinoma with pure aldosterone hypersecretion	Orphanet	231625	http://www.orpha.net/ORDO/Orphanet_231625
Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	Orphanet	1900	http://www.orpha.net/ORDO/Orphanet_1900
Isolated growth hormone deficiency type IB	Isolated growth hormone deficiency type IB	Orphanet	231671	http://www.orpha.net/ORDO/Orphanet_231671
Vascular Ehlers-Danlos syndrome	Vascular Ehlers-Danlos syndrome	Orphanet	286	http://www.orpha.net/ORDO/Orphanet_286
Isolated growth hormone deficiency type II	Isolated growth hormone deficiency type II	Orphanet	231679	http://www.orpha.net/ORDO/Orphanet_231679
Rare non surgically correctable form of primary aldosteronism	Rare non surgically correctable form of primary aldosteronism	Orphanet	231641	http://www.orpha.net/ORDO/Orphanet_231641
Hypermobile Ehlers-Danlos syndrome	Hypermobile Ehlers-Danlos syndrome	Orphanet	285	http://www.orpha.net/ORDO/Orphanet_285
Isolated growth hormone deficiency type IA	Isolated growth hormone deficiency type IA	Orphanet	231662	http://www.orpha.net/ORDO/Orphanet_231662
Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome	Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome	Orphanet	231736	http://www.orpha.net/ORDO/Orphanet_231736
Epibulbar lipodermoid-preauricular appendage-polythelia syndrome	Epibulbar lipodermoid-preauricular appendage-polythelia syndrome	Orphanet	231742	http://www.orpha.net/ORDO/Orphanet_231742
Epidermolysis bullosa simplex with muscular dystrophy	Epidermolysis bullosa simplex with muscular dystrophy	Orphanet	257	http://www.orpha.net/ORDO/Orphanet_257
Dermatosparaxis Ehlers-Danlos syndrome	Dermatosparaxis Ehlers-Danlos syndrome	Orphanet	1901	http://www.orpha.net/ORDO/Orphanet_1901
Isolated growth hormone deficiency type III	Isolated growth hormone deficiency type III	Orphanet	231692	http://www.orpha.net/ORDO/Orphanet_231692
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome	Orphanet	231720	http://www.orpha.net/ORDO/Orphanet_231720
Arthrochalasia Ehlers-Danlos syndrome	Arthrochalasia Ehlers-Danlos syndrome	Orphanet	1899	http://www.orpha.net/ORDO/Orphanet_1899
Congenital nephrotic syndrome, Finnish type	Congenital nephrotic syndrome, Finnish type	Orphanet	839	http://www.orpha.net/ORDO/Orphanet_839
Infectious embryofetopathy	Infectious embryofetopathy	Orphanet	232035	http://www.orpha.net/ORDO/Orphanet_232035
Miller-Dieker syndrome	Miller-Dieker syndrome	Orphanet	531	http://www.orpha.net/ORDO/Orphanet_531
Soft tissue sarcoma	Soft tissue sarcoma	Orphanet	3394	http://www.orpha.net/ORDO/Orphanet_3394
Isolated lissencephaly type 1 without known genetic defects	Isolated lissencephaly type 1 without known genetic defects	Orphanet	1084	http://www.orpha.net/ORDO/Orphanet_1084
Alpha-thalassemia-related diseases	Alpha-thalassemia-related diseases	Orphanet	232288	http://www.orpha.net/ORDO/Orphanet_232288
Microlissencephaly	Microlissencephaly	Orphanet	1083	http://www.orpha.net/ORDO/Orphanet_1083
X-linked lissencephaly with abnormal genitalia	X-linked lissencephaly with abnormal genitalia	Orphanet	452	http://www.orpha.net/ORDO/Orphanet_452
4q21 microdeletion syndrome	4q21 microdeletion syndrome	Orphanet	238750	http://www.orpha.net/ORDO/Orphanet_238750
Autosomal dominant limb-girdle muscular dystrophy type 1H	Autosomal dominant limb-girdle muscular dystrophy type 1H	Orphanet	238755	http://www.orpha.net/ORDO/Orphanet_238755
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea	Glaucoma secondary to spherophakia/ectopia lentis and megalocornea	Orphanet	238763	http://www.orpha.net/ORDO/Orphanet_238763
Transient congenital hypothyroidism due to maternal factor	Transient congenital hypothyroidism due to maternal factor	Orphanet	238696	http://www.orpha.net/ORDO/Orphanet_238696
Transient congenital hypothyroidism due to neonatal factor	Transient congenital hypothyroidism due to neonatal factor	Orphanet	238699	http://www.orpha.net/ORDO/Orphanet_238699
Familial congenital mirror movements	Familial congenital mirror movements	Orphanet	238722	http://www.orpha.net/ORDO/Orphanet_238722
Mammary-digital-nail syndrome	Mammary-digital-nail syndrome	Orphanet	238744	http://www.orpha.net/ORDO/Orphanet_238744
Ptosis-syndactyly-learning difficulties syndrome	Ptosis-syndactyly-learning difficulties syndrome	Orphanet	238766	http://www.orpha.net/ORDO/Orphanet_238766
1q44 microdeletion syndrome	1q44 microdeletion syndrome	Orphanet	238769	http://www.orpha.net/ORDO/Orphanet_238769
Lymphoproliferative syndrome	Lymphoproliferative syndrome	Orphanet	238510	http://www.orpha.net/ORDO/Orphanet_238510
Hypotonia-cystinuria type 1 syndrome	Hypotonia-cystinuria type 1 syndrome	Orphanet	238517	http://www.orpha.net/ORDO/Orphanet_238517
Combined immunodeficiency due to CD27 deficiency	Combined immunodeficiency due to CD27 deficiency	Orphanet	238505	http://www.orpha.net/ORDO/Orphanet_238505
Hypohidrotic ectodermal dysplasia	Hypohidrotic ectodermal dysplasia	Orphanet	238468	http://www.orpha.net/ORDO/Orphanet_238468
Familial hypercholanemia	Familial hypercholanemia	Orphanet	238475	http://www.orpha.net/ORDO/Orphanet_238475
Infantile dystonia-parkinsonism	Infantile dystonia-parkinsonism	Orphanet	238455	http://www.orpha.net/ORDO/Orphanet_238455
SLC35A1-CDG	SLC35A1-CDG	Orphanet	238459	http://www.orpha.net/ORDO/Orphanet_238459
Familial clubfoot due to 17q23.1q23.2 microduplication	Familial clubfoot due to 17q23.1q23.2 microduplication	Orphanet	238578	http://www.orpha.net/ORDO/Orphanet_238578
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency	Hyperphenylalaninemia due to tetrahydrobiopterin deficiency	Orphanet	238583	http://www.orpha.net/ORDO/Orphanet_238583
Chuvash erythrocytosis	Chuvash erythrocytosis	Orphanet	238557	http://www.orpha.net/ORDO/Orphanet_238557
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome	Orphanet	238569	http://www.orpha.net/ORDO/Orphanet_238569
Acquired secondary polycythemia	Acquired secondary polycythemia	Orphanet	238547	http://www.orpha.net/ORDO/Orphanet_238547
Atypical hypotonia-cystinuria syndrome	Atypical hypotonia-cystinuria syndrome	Orphanet	238523	http://www.orpha.net/ORDO/Orphanet_238523
Congenital secondary polycythemia	Congenital secondary polycythemia	Orphanet	238536	http://www.orpha.net/ORDO/Orphanet_238536
Megacystis-megaureter syndrome	Megacystis-megaureter syndrome	Orphanet	238637	http://www.orpha.net/ORDO/Orphanet_238637
Idiopathic intracranial hypertension	Idiopathic intracranial hypertension	Orphanet	238624	http://www.orpha.net/ORDO/Orphanet_238624
Ileal pouch anal anastomosis related faecal incontinence	Ileal pouch anal anastomosis related faecal incontinence	Orphanet	238621	http://www.orpha.net/ORDO/Orphanet_238621
NON RARE IN EUROPE: Alzheimer disease	NON RARE IN EUROPE: Alzheimer disease	Orphanet	238616	http://www.orpha.net/ORDO/Orphanet_238616
Beckwith-Wiedemann syndrome due to NSD1 mutation	Beckwith-Wiedemann syndrome due to NSD1 mutation	Orphanet	238613	http://www.orpha.net/ORDO/Orphanet_238613
Primary orthostatic tremor	Primary orthostatic tremor	Orphanet	238606	http://www.orpha.net/ORDO/Orphanet_238606
IgG4-related mesenteritis	IgG4-related mesenteritis	Orphanet	238593	http://www.orpha.net/ORDO/Orphanet_238593
Neonatal iodine exposure	Neonatal iodine exposure	Orphanet	238688	http://www.orpha.net/ORDO/Orphanet_238688
Isolated thyrotropin-releasing hormone deficiency	Isolated thyrotropin-releasing hormone deficiency	Orphanet	238670	http://www.orpha.net/ORDO/Orphanet_238670
Isolated congenital hypogonadotropic hypogonadism	Isolated congenital hypogonadotropic hypogonadism	Orphanet	238666	http://www.orpha.net/ORDO/Orphanet_238666
Congenital primary megaureter, nonrefluxing and unobstructed form	Congenital primary megaureter, nonrefluxing and unobstructed form	Orphanet	238654	http://www.orpha.net/ORDO/Orphanet_238654
Congenital primary megaureter, refluxing form	Congenital primary megaureter, refluxing form	Orphanet	238650	http://www.orpha.net/ORDO/Orphanet_238650
Congenital primary megaureter, obstructed form	Congenital primary megaureter, obstructed form	Orphanet	238646	http://www.orpha.net/ORDO/Orphanet_238646
Primary megaureter, adult-onset form	Primary megaureter, adult-onset form	Orphanet	238642	http://www.orpha.net/ORDO/Orphanet_238642
Syndromic obesity	Syndromic obesity	Orphanet	240371	http://www.orpha.net/ORDO/Orphanet_240371
Classic progressive supranuclear palsy syndrome	Classic progressive supranuclear palsy syndrome	Orphanet	240071	http://www.orpha.net/ORDO/Orphanet_240071
Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	Orphanet	240112	http://www.orpha.net/ORDO/Orphanet_240112
Progressive supranuclear palsy-corticobasal syndrome	Progressive supranuclear palsy-corticobasal syndrome	Orphanet	240103	http://www.orpha.net/ORDO/Orphanet_240103
Progressive supranuclear palsy-pure akinesia with gait freezing syndrome	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome	Orphanet	240094	http://www.orpha.net/ORDO/Orphanet_240094
Progressive supranuclear palsy-parkinsonism syndrome	Progressive supranuclear palsy-parkinsonism syndrome	Orphanet	240085	http://www.orpha.net/ORDO/Orphanet_240085
Nijmegen breakage syndrome-like disorder	Nijmegen breakage syndrome-like disorder	Orphanet	240760	http://www.orpha.net/ORDO/Orphanet_240760
Susceptibility to infection due to TYK2 deficiency	Susceptibility to infection due to TYK2 deficiency	Orphanet	331226	http://www.orpha.net/ORDO/Orphanet_331226
Hyper-IgE syndrome	Hyper-IgE syndrome	Orphanet	331223	http://www.orpha.net/ORDO/Orphanet_331223
Selective IgM deficiency	Selective IgM deficiency	Orphanet	331235	http://www.orpha.net/ORDO/Orphanet_331235
Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells	Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells	Orphanet	331232	http://www.orpha.net/ORDO/Orphanet_331232
Other immunodeficiency syndrome with predominantly antibody defects	Other immunodeficiency syndrome with predominantly antibody defects	Orphanet	331244	http://www.orpha.net/ORDO/Orphanet_331244
Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells	Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells	Orphanet	331240	http://www.orpha.net/ORDO/Orphanet_331240
Immunodeficiency syndrome with hypopigmentation	Immunodeficiency syndrome with hypopigmentation	Orphanet	331249	http://www.orpha.net/ORDO/Orphanet_331249
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	Orphanet	331176	http://www.orpha.net/ORDO/Orphanet_331176
Constitutional neutropenia with extra-hematopoietic manifestations	Constitutional neutropenia with extra-hematopoietic manifestations	Orphanet	331184	http://www.orpha.net/ORDO/Orphanet_331184
Immunodeficiency due to MASP-2 deficiency	Immunodeficiency due to MASP-2 deficiency	Orphanet	331187	http://www.orpha.net/ORDO/Orphanet_331187
Immunodeficiency due to ficolin3 deficiency	Immunodeficiency due to ficolin3 deficiency	Orphanet	331190	http://www.orpha.net/ORDO/Orphanet_331190
Other immunodeficiency syndromes due to defects in innate immunity	Other immunodeficiency syndromes due to defects in innate immunity	Orphanet	331193	http://www.orpha.net/ORDO/Orphanet_331193
Severe combined immunodeficiency due to complete RAG1/2 deficiency	Severe combined immunodeficiency due to complete RAG1/2 deficiency	Orphanet	331206	http://www.orpha.net/ORDO/Orphanet_331206
Syndrome with combined immunodeficiency	Syndrome with combined immunodeficiency	Orphanet	331217	http://www.orpha.net/ORDO/Orphanet_331217
Immunodeficiency due to absence of thymus	Immunodeficiency due to absence of thymus	Orphanet	331220	http://www.orpha.net/ORDO/Orphanet_331220
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Orphanet	330206	http://www.orpha.net/ORDO/Orphanet_330206
Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome	Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome	Orphanet	330197	http://www.orpha.net/ORDO/Orphanet_330197
Chronic actinic dermatitis	Chronic actinic dermatitis	Orphanet	330064	http://www.orpha.net/ORDO/Orphanet_330064
Wild type ATTR amyloidosis	Wild type ATTR amyloidosis	Orphanet	330001	http://www.orpha.net/ORDO/Orphanet_330001
Classic neuroendocrine tumor of appendix	Classic neuroendocrine tumor of appendix	Orphanet	329977	http://www.orpha.net/ORDO/Orphanet_329977
Goblet cell carcinoma	Goblet cell carcinoma	Orphanet	329984	http://www.orpha.net/ORDO/Orphanet_329984
High altitude pulmonary edema	High altitude pulmonary edema	Orphanet	330012	http://www.orpha.net/ORDO/Orphanet_330012
Lead poisoning	Lead poisoning	Orphanet	330015	http://www.orpha.net/ORDO/Orphanet_330015
NON RARE IN EUROPE: Macular telangiectasia type 2	NON RARE IN EUROPE: Macular telangiectasia type 2	Orphanet	330006	http://www.orpha.net/ORDO/Orphanet_330006
Hemoglobin Lepore-beta-thalassemia syndrome	Hemoglobin Lepore-beta-thalassemia syndrome	Orphanet	330032	http://www.orpha.net/ORDO/Orphanet_330032
Hemoglobin M disease	Hemoglobin M disease	Orphanet	330041	http://www.orpha.net/ORDO/Orphanet_330041
Mercury poisoning	Mercury poisoning	Orphanet	330021	http://www.orpha.net/ORDO/Orphanet_330021
Hypotrichosis-deafness syndrome	Hypotrichosis-deafness syndrome	Orphanet	330029	http://www.orpha.net/ORDO/Orphanet_330029
Hydroa vacciniforme	Hydroa vacciniforme	Orphanet	330058	http://www.orpha.net/ORDO/Orphanet_330058
Actinic prurigo	Actinic prurigo	Orphanet	330061	http://www.orpha.net/ORDO/Orphanet_330061
DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect	Orphanet	330050	http://www.orpha.net/ORDO/Orphanet_330050
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	Orphanet	330054	http://www.orpha.net/ORDO/Orphanet_330054
Mosaic genome-wide paternal uniparental disomy	Mosaic genome-wide paternal uniparental disomy	Orphanet	329813	http://www.orpha.net/ORDO/Orphanet_329813
5p13 microduplication syndrome	5p13 microduplication syndrome	Orphanet	329802	http://www.orpha.net/ORDO/Orphanet_329802
Non-hypoproteinemic hypertrophic gastropathy	Non-hypoproteinemic hypertrophic gastropathy	Orphanet	329883	http://www.orpha.net/ORDO/Orphanet_329883
Idiopathic giant cell myocarditis	Idiopathic giant cell myocarditis	Orphanet	329874	http://www.orpha.net/ORDO/Orphanet_329874
Spastic paraplegia-Paget disease of bone syndrome	Spastic paraplegia-Paget disease of bone syndrome	Orphanet	329475	http://www.orpha.net/ORDO/Orphanet_329475
Lipoprotein glomerulopathy	Lipoprotein glomerulopathy	Orphanet	329481	http://www.orpha.net/ORDO/Orphanet_329481
Adult-onset distal myopathy due to VCP mutation	Adult-onset distal myopathy due to VCP mutation	Orphanet	329478	http://www.orpha.net/ORDO/Orphanet_329478
Transient neonatal multiple acyl-CoA dehydrogenase deficiency	Transient neonatal multiple acyl-CoA dehydrogenase deficiency	Orphanet	329942	http://www.orpha.net/ORDO/Orphanet_329942
C3 glomerulonephritis	C3 glomerulonephritis	Orphanet	329931	http://www.orpha.net/ORDO/Orphanet_329931
Generalized juvenile polyposis/juvenile polyposis coli	Generalized juvenile polyposis/juvenile polyposis coli	Orphanet	329971	http://www.orpha.net/ORDO/Orphanet_329971
Intermittent hydrarthrosis	Intermittent hydrarthrosis	Orphanet	329967	http://www.orpha.net/ORDO/Orphanet_329967
Juvenile overlap myositis	Juvenile overlap myositis	Orphanet	329894	http://www.orpha.net/ORDO/Orphanet_329894
Juvenile idiopathic inflammatory myopathy	Juvenile idiopathic inflammatory myopathy	Orphanet	329888	http://www.orpha.net/ORDO/Orphanet_329888
C3 glomerulopathy	C3 glomerulopathy	Orphanet	329918	http://www.orpha.net/ORDO/Orphanet_329918
Immunoglobulin-mediated membranoproliferative glomerulonephritis	Immunoglobulin-mediated membranoproliferative glomerulonephritis	Orphanet	329903	http://www.orpha.net/ORDO/Orphanet_329903
Fatty acid hydroxylase-associated neurodegeneration	Fatty acid hydroxylase-associated neurodegeneration	Orphanet	329308	http://www.orpha.net/ORDO/Orphanet_329308
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	Orphanet	329314	http://www.orpha.net/ORDO/Orphanet_329314
Thrombocythemia with distal limb defects	Thrombocythemia with distal limb defects	Orphanet	329319	http://www.orpha.net/ORDO/Orphanet_329319
Inverse Klippel-Trénaunay syndrome	Inverse Klippel-Trénaunay syndrome	Orphanet	329324	http://www.orpha.net/ORDO/Orphanet_329324
Beta-propeller protein-associated neurodegeneration	Beta-propeller protein-associated neurodegeneration	Orphanet	329284	http://www.orpha.net/ORDO/Orphanet_329284
PLA2G6-associated neurodegeneration	PLA2G6-associated neurodegeneration	Orphanet	329303	http://www.orpha.net/ORDO/Orphanet_329303
Distal arthrogryposis type 5D	Distal arthrogryposis type 5D	Orphanet	329457	http://www.orpha.net/ORDO/Orphanet_329457
Autosomal dominant focal dystonia, DYT25 type	Autosomal dominant focal dystonia, DYT25 type	Orphanet	329466	http://www.orpha.net/ORDO/Orphanet_329466
Acute megakaryoblastic leukemia without Down syndrome	Acute megakaryoblastic leukemia without Down syndrome	Orphanet	329469	http://www.orpha.net/ORDO/Orphanet_329469
Autosomal recessive frontotemporal pachygyria	Autosomal recessive frontotemporal pachygyria	Orphanet	329329	http://www.orpha.net/ORDO/Orphanet_329329
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome	Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome	Orphanet	329332	http://www.orpha.net/ORDO/Orphanet_329332
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	Orphanet	329336	http://www.orpha.net/ORDO/Orphanet_329336
Limbic encephalitis with DPP6 antibodies	Limbic encephalitis with DPP6 antibodies	Orphanet	329341	http://www.orpha.net/ORDO/Orphanet_329341
Microcephalic primordial dwarfism due to ZNF335 deficiency	Microcephalic primordial dwarfism due to ZNF335 deficiency	Orphanet	329228	http://www.orpha.net/ORDO/Orphanet_329228
Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	Orphanet	329224	http://www.orpha.net/ORDO/Orphanet_329224
Cerebral sinovenous thrombosis	Cerebral sinovenous thrombosis	Orphanet	329217	http://www.orpha.net/ORDO/Orphanet_329217
Autosomal dominant neovascular inflammatory vitreoretinopathy	Autosomal dominant neovascular inflammatory vitreoretinopathy	Orphanet	329211	http://www.orpha.net/ORDO/Orphanet_329211
Developmental delay with autism spectrum disorder and gait instability	Developmental delay with autism spectrum disorder and gait instability	Orphanet	329195	http://www.orpha.net/ORDO/Orphanet_329195
Tall stature-scoliosis-macrodactyly of the great toes syndrome	Tall stature-scoliosis-macrodactyly of the great toes syndrome	Orphanet	329191	http://www.orpha.net/ORDO/Orphanet_329191
Congenital muscular dystrophy with intellectual disability and severe epilepsy	Congenital muscular dystrophy with intellectual disability and severe epilepsy	Orphanet	329178	http://www.orpha.net/ORDO/Orphanet_329178
Autosomal dominant Charcot-Marie-Tooth disease type 2Q	Autosomal dominant Charcot-Marie-Tooth disease type 2Q	Orphanet	329258	http://www.orpha.net/ORDO/Orphanet_329258
Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency	Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency	Orphanet	329255	http://www.orpha.net/ORDO/Orphanet_329255
Spondylocostal dysostosis-hypospadias-intellectual disability syndrome	Spondylocostal dysostosis-hypospadias-intellectual disability syndrome	Orphanet	329252	http://www.orpha.net/ORDO/Orphanet_329252
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency	Orphanet	329249	http://www.orpha.net/ORDO/Orphanet_329249
Congenital chronic diarrhea with protein-losing enteropathy	Congenital chronic diarrhea with protein-losing enteropathy	Orphanet	329242	http://www.orpha.net/ORDO/Orphanet_329242
X-linked central congenital hypothyroidism with late-onset testicular enlargement	X-linked central congenital hypothyroidism with late-onset testicular enlargement	Orphanet	329235	http://www.orpha.net/ORDO/Orphanet_329235
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis	Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis	Orphanet	329173	http://www.orpha.net/ORDO/Orphanet_329173
Genetic 46,XX disorder of sex development	Genetic 46,XX disorder of sex development	Orphanet	325697	http://www.orpha.net/ORDO/Orphanet_325697
Genetic disorder of sex development	Genetic disorder of sex development	Orphanet	325690	http://www.orpha.net/ORDO/Orphanet_325690
Genetic 46,XY disorder of sex development of endocrine origin	Genetic 46,XY disorder of sex development of endocrine origin	Orphanet	325713	http://www.orpha.net/ORDO/Orphanet_325713
Genetic 46,XY disorder of sex development	Genetic 46,XY disorder of sex development	Orphanet	325706	http://www.orpha.net/ORDO/Orphanet_325706
Syndrome with disorder of sex development of gynecological interest	Syndrome with disorder of sex development of gynecological interest	Orphanet	325638	http://www.orpha.net/ORDO/Orphanet_325638
Genetic disorder of sex development of gynecological interest	Genetic disorder of sex development of gynecological interest	Orphanet	325665	http://www.orpha.net/ORDO/Orphanet_325665
Disorder of sex development of gynecological interest	Disorder of sex development of gynecological interest	Orphanet	325620	http://www.orpha.net/ORDO/Orphanet_325620
46,XY disorder of sex development of gynecological interest	46,XY disorder of sex development of gynecological interest	Orphanet	325632	http://www.orpha.net/ORDO/Orphanet_325632
Congenital factor XI deficiency	Congenital factor XI deficiency	Orphanet	329	http://www.orpha.net/ORDO/Orphanet_329
Best vitelliform macular dystrophy	Best vitelliform macular dystrophy	Orphanet	1243	http://www.orpha.net/ORDO/Orphanet_1243
46,XY disorder of sex development due to a cholesterol synthesis defect	46,XY disorder of sex development due to a cholesterol synthesis defect	Orphanet	325511	http://www.orpha.net/ORDO/Orphanet_325511
Classic congenital lipoid adrenal hyperplasia due to STAR deficency	Classic congenital lipoid adrenal hyperplasia due to STAR deficency	Orphanet	325524	http://www.orpha.net/ORDO/Orphanet_325524
46,XY disorder of sex development due to impaired androgen production	46,XY disorder of sex development due to impaired androgen production	Orphanet	325357	http://www.orpha.net/ORDO/Orphanet_325357
Leydig cell hypoplasia due to LHB deficiency	Leydig cell hypoplasia due to LHB deficiency	Orphanet	325448	http://www.orpha.net/ORDO/Orphanet_325448
Sex chromosome disorder of sex development	Sex chromosome disorder of sex development	Orphanet	325546	http://www.orpha.net/ORDO/Orphanet_325546
Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency	Orphanet	325529	http://www.orpha.net/ORDO/Orphanet_325529
46,XY disorder of sex development induced by maternal exposure to endocrine disruptors	46,XY disorder of sex development induced by maternal exposure to endocrine disruptors	Orphanet	325537	http://www.orpha.net/ORDO/Orphanet_325537
Testicular agenesis	Testicular agenesis	Orphanet	325124	http://www.orpha.net/ORDO/Orphanet_325124
46,XY disorder of gonadal development	46,XY disorder of gonadal development	Orphanet	325118	http://www.orpha.net/ORDO/Orphanet_325118
46,XY disorder of sex development of endocrine origin	46,XY disorder of sex development of endocrine origin	Orphanet	325351	http://www.orpha.net/ORDO/Orphanet_325351
46,XY ovotesticular disorder of sex development	46,XY ovotesticular disorder of sex development	Orphanet	325345	http://www.orpha.net/ORDO/Orphanet_325345
46,XX disorder of gonadal development	46,XX disorder of gonadal development	Orphanet	325055	http://www.orpha.net/ORDO/Orphanet_325055
Syndrome with 46,XX disorder of sex development	Syndrome with 46,XX disorder of sex development	Orphanet	325109	http://www.orpha.net/ORDO/Orphanet_325109
46,XX disorder of sex development induced by exogenous maternal-derived androgen	46,XX disorder of sex development induced by exogenous maternal-derived androgen	Orphanet	325099	http://www.orpha.net/ORDO/Orphanet_325099
46,XX disorder of sex development induced by endogenous maternal-derived androgen	46,XX disorder of sex development induced by endogenous maternal-derived androgen	Orphanet	325093	http://www.orpha.net/ORDO/Orphanet_325093
46,XX disorder of sex development induced by fetoplacental androgens excess	46,XX disorder of sex development induced by fetoplacental androgens excess	Orphanet	325061	http://www.orpha.net/ORDO/Orphanet_325061
JMP syndrome	JMP syndrome	Orphanet	324999	http://www.orpha.net/ORDO/Orphanet_324999
CANDLE syndrome	CANDLE syndrome	Orphanet	325004	http://www.orpha.net/ORDO/Orphanet_325004
Unexplained periodic fever syndrome of childhood	Unexplained periodic fever syndrome of childhood	Orphanet	324960	http://www.orpha.net/ORDO/Orphanet_324960
Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis	Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis	Orphanet	324964	http://www.orpha.net/ORDO/Orphanet_324964
MAGIC syndrome	MAGIC syndrome	Orphanet	324972	http://www.orpha.net/ORDO/Orphanet_324972
Proteasome-associated autoinflammatory syndrome	Proteasome-associated autoinflammatory syndrome	Orphanet	324977	http://www.orpha.net/ORDO/Orphanet_324977
Periodic fever syndrome of childhood	Periodic fever syndrome of childhood	Orphanet	324939	http://www.orpha.net/ORDO/Orphanet_324939
Pyogenic autoinflammatory syndrome of childhood	Pyogenic autoinflammatory syndrome of childhood	Orphanet	324942	http://www.orpha.net/ORDO/Orphanet_324942
Granulomatous autoinflammatory syndrome of childhood	Granulomatous autoinflammatory syndrome of childhood	Orphanet	324950	http://www.orpha.net/ORDO/Orphanet_324950
Unclassified autoinflammatory syndrome of childhood	Unclassified autoinflammatory syndrome of childhood	Orphanet	324953	http://www.orpha.net/ORDO/Orphanet_324953
Pyogenic autoinflammatory syndrome	Pyogenic autoinflammatory syndrome	Orphanet	324927	http://www.orpha.net/ORDO/Orphanet_324927
Granulomatous autoinflammatory syndrome	Granulomatous autoinflammatory syndrome	Orphanet	324930	http://www.orpha.net/ORDO/Orphanet_324930
Mixed autoinflammatory and autoimmune syndrome	Mixed autoinflammatory and autoimmune syndrome	Orphanet	324933	http://www.orpha.net/ORDO/Orphanet_324933
Unclassified autoinflammatory syndrome	Unclassified autoinflammatory syndrome	Orphanet	324936	http://www.orpha.net/ORDO/Orphanet_324936
Trichorhinophalangeal syndrome	Trichorhinophalangeal syndrome	Orphanet	324764	http://www.orpha.net/ORDO/Orphanet_324764
Microcephalic primordial dwarfism	Microcephalic primordial dwarfism	Orphanet	324761	http://www.orpha.net/ORDO/Orphanet_324761
Hereditary periodic fever syndrome	Hereditary periodic fever syndrome	Orphanet	324924	http://www.orpha.net/ORDO/Orphanet_324924
Non-familial rare disease with dilated cardiomyopathy	Non-familial rare disease with dilated cardiomyopathy	Orphanet	324767	http://www.orpha.net/ORDO/Orphanet_324767
ABetaA21G amyloidosis	ABetaA21G amyloidosis	Orphanet	324718	http://www.orpha.net/ORDO/Orphanet_324718
ABeta amyloidosis, Italian type	ABeta amyloidosis, Italian type	Orphanet	324713	http://www.orpha.net/ORDO/Orphanet_324713
SRD5A3-CDG	SRD5A3-CDG	Orphanet	324737	http://www.orpha.net/ORDO/Orphanet_324737
ABeta amyloidosis, Arctic type	ABeta amyloidosis, Arctic type	Orphanet	324723	http://www.orpha.net/ORDO/Orphanet_324723
Invasive non-typhoidal salmonellosis	Invasive non-typhoidal salmonellosis	Orphanet	324648	http://www.orpha.net/ORDO/Orphanet_324648
Autoerythrocyte sensitization syndrome	Autoerythrocyte sensitization syndrome	Orphanet	324636	http://www.orpha.net/ORDO/Orphanet_324636
ABeta amyloidosis, Iowa type	ABeta amyloidosis, Iowa type	Orphanet	324708	http://www.orpha.net/ORDO/Orphanet_324708
ABetaL34V amyloidosis	ABetaL34V amyloidosis	Orphanet	324703	http://www.orpha.net/ORDO/Orphanet_324703
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation	Orphanet	324611	http://www.orpha.net/ORDO/Orphanet_324611
Classic multiminicore myopathy	Classic multiminicore myopathy	Orphanet	324604	http://www.orpha.net/ORDO/Orphanet_324604
Hendra virus infection	Hendra virus infection	Orphanet	324632	http://www.orpha.net/ORDO/Orphanet_324632
Chikungunya	Chikungunya	Orphanet	324625	http://www.orpha.net/ORDO/Orphanet_324625
Familial dyskinesia and facial myokymia	Familial dyskinesia and facial myokymia	Orphanet	324588	http://www.orpha.net/ORDO/Orphanet_324588
X-linked cleft palate and ankyloglossia	X-linked cleft palate and ankyloglossia	Orphanet	324601	http://www.orpha.net/ORDO/Orphanet_324601
Benign Samaritan congenital myopathy	Benign Samaritan congenital myopathy	Orphanet	324581	http://www.orpha.net/ORDO/Orphanet_324581
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain	Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain	Orphanet	324585	http://www.orpha.net/ORDO/Orphanet_324585
Pontocerebellar hypoplasia type 8	Pontocerebellar hypoplasia type 8	Orphanet	324569	http://www.orpha.net/ORDO/Orphanet_324569
Hyperinsulinism due to HNF1A deficiency	Hyperinsulinism due to HNF1A deficiency	Orphanet	324575	http://www.orpha.net/ORDO/Orphanet_324575
Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome	Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome	Orphanet	324540	http://www.orpha.net/ORDO/Orphanet_324540
Hypopigmentation-punctate palmoplantar keratoderma syndrome	Hypopigmentation-punctate palmoplantar keratoderma syndrome	Orphanet	324561	http://www.orpha.net/ORDO/Orphanet_324561
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Orphanet	324530	http://www.orpha.net/ORDO/Orphanet_324530
Combined oxidative phosphorylation defect type 11	Combined oxidative phosphorylation defect type 11	Orphanet	324535	http://www.orpha.net/ORDO/Orphanet_324535
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation	Orphanet	324525	http://www.orpha.net/ORDO/Orphanet_324525
Autosomal recessive axonal neuropathy with neuromyotonia	Autosomal recessive axonal neuropathy with neuromyotonia	Orphanet	324442	http://www.orpha.net/ORDO/Orphanet_324442
Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome	Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome	Orphanet	324416	http://www.orpha.net/ORDO/Orphanet_324416
ALG13-CDG	ALG13-CDG	Orphanet	324422	http://www.orpha.net/ORDO/Orphanet_324422
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	Orphanet	324410	http://www.orpha.net/ORDO/Orphanet_324410
Hereditary inclusion body myopathy type 4	Hereditary inclusion body myopathy type 4	Orphanet	324381	http://www.orpha.net/ORDO/Orphanet_324381
Mixed sclerosing bone dystrophy with extra-skeletal manifestations	Mixed sclerosing bone dystrophy with extra-skeletal manifestations	Orphanet	324364	http://www.orpha.net/ORDO/Orphanet_324364
Congenital achiasma	Congenital achiasma	Orphanet	324353	http://www.orpha.net/ORDO/Orphanet_324353
Sinoatrial node dysfunction and deafness	Sinoatrial node dysfunction and deafness	Orphanet	324321	http://www.orpha.net/ORDO/Orphanet_324321
9p13 microdeletion syndrome	9p13 microdeletion syndrome	Orphanet	324313	http://www.orpha.net/ORDO/Orphanet_324313
Severe lateral tibial bowing with short stature	Severe lateral tibial bowing with short stature	Orphanet	324307	http://www.orpha.net/ORDO/Orphanet_324307
Multiple paragangliomas associated with polycythemia	Multiple paragangliomas associated with polycythemia	Orphanet	324299	http://www.orpha.net/ORDO/Orphanet_324299
T-cell immunodeficiency with epidermodysplasia verruciformis	T-cell immunodeficiency with epidermodysplasia verruciformis	Orphanet	324294	http://www.orpha.net/ORDO/Orphanet_324294
Early-onset Lafora body disease	Early-onset Lafora body disease	Orphanet	324290	http://www.orpha.net/ORDO/Orphanet_324290
Genetic tumor of hematopoietic and lymphoid tissues	Genetic tumor of hematopoietic and lymphoid tissues	Orphanet	322126	http://www.orpha.net/ORDO/Orphanet_322126
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency	Orphanet	324262	http://www.orpha.net/ORDO/Orphanet_324262
NON RARE IN EUROPE: Partial color blindness, protan type	NON RARE IN EUROPE: Partial color blindness, protan type	Orphanet	319691	http://www.orpha.net/ORDO/Orphanet_319691
NON RARE IN EUROPE: Partial color blindness, deutan type	NON RARE IN EUROPE: Partial color blindness, deutan type	Orphanet	319698	http://www.orpha.net/ORDO/Orphanet_319698
NON RARE IN EUROPE: Parkinson disease	NON RARE IN EUROPE: Parkinson disease	Orphanet	319705	http://www.orpha.net/ORDO/Orphanet_319705
Autoinflammatory syndrome of childhood	Autoinflammatory syndrome of childhood	Orphanet	319719	http://www.orpha.net/ORDO/Orphanet_319719
X-linked pure spastic paraplegia	X-linked pure spastic paraplegia	Orphanet	320332	http://www.orpha.net/ORDO/Orphanet_320332
Pure or complex hereditary spastic paraplegia	Pure or complex hereditary spastic paraplegia	Orphanet	320335	http://www.orpha.net/ORDO/Orphanet_320335
Pure or complex autosomal dominant spastic paraplegia	Pure or complex autosomal dominant spastic paraplegia	Orphanet	320342	http://www.orpha.net/ORDO/Orphanet_320342
Pure or complex autosomal recessive spastic paraplegia	Pure or complex autosomal recessive spastic paraplegia	Orphanet	320346	http://www.orpha.net/ORDO/Orphanet_320346
Pure or complex X-linked spastic paraplegia	Pure or complex X-linked spastic paraplegia	Orphanet	320350	http://www.orpha.net/ORDO/Orphanet_320350
MT-ATP6-related mitochondrial spastic paraplegia	MT-ATP6-related mitochondrial spastic paraplegia	Orphanet	320360	http://www.orpha.net/ORDO/Orphanet_320360
Autosomal dominant spastic paraplegia type 41	Autosomal dominant spastic paraplegia type 41	Orphanet	320355	http://www.orpha.net/ORDO/Orphanet_320355
Autosomal recessive spastic paraplegia type 43	Autosomal recessive spastic paraplegia type 43	Orphanet	320370	http://www.orpha.net/ORDO/Orphanet_320370
Autosomal dominant spastic paraplegia type 36	Autosomal dominant spastic paraplegia type 36	Orphanet	320365	http://www.orpha.net/ORDO/Orphanet_320365
Autosomal recessive spastic paraplegia type 54	Autosomal recessive spastic paraplegia type 54	Orphanet	320380	http://www.orpha.net/ORDO/Orphanet_320380
Autosomal recessive spastic paraplegia type 55	Autosomal recessive spastic paraplegia type 55	Orphanet	320375	http://www.orpha.net/ORDO/Orphanet_320375
Autosomal recessive spastic paraplegia type 46	Autosomal recessive spastic paraplegia type 46	Orphanet	320391	http://www.orpha.net/ORDO/Orphanet_320391
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	Orphanet	320385	http://www.orpha.net/ORDO/Orphanet_320385
Autosomal recessive spastic paraplegia type 44	Autosomal recessive spastic paraplegia type 44	Orphanet	320401	http://www.orpha.net/ORDO/Orphanet_320401
Autosomal recessive spastic paraplegia type 45	Autosomal recessive spastic paraplegia type 45	Orphanet	320396	http://www.orpha.net/ORDO/Orphanet_320396
Autosomal recessive spastic paraplegia type 56	Autosomal recessive spastic paraplegia type 56	Orphanet	320411	http://www.orpha.net/ORDO/Orphanet_320411
Spastic paraplegia-optic atrophy-neuropathy syndrome	Spastic paraplegia-optic atrophy-neuropathy syndrome	Orphanet	320406	http://www.orpha.net/ORDO/Orphanet_320406
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency	Orphanet	319543	http://www.orpha.net/ORDO/Orphanet_319543
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency	Orphanet	319547	http://www.orpha.net/ORDO/Orphanet_319547
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency	Orphanet	319535	http://www.orpha.net/ORDO/Orphanet_319535
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency	Orphanet	319539	http://www.orpha.net/ORDO/Orphanet_319539
Combined oxidative phosphorylation defect type 14	Combined oxidative phosphorylation defect type 14	Orphanet	319519	http://www.orpha.net/ORDO/Orphanet_319519
Combined oxidative phosphorylation defect type 15	Combined oxidative phosphorylation defect type 15	Orphanet	319524	http://www.orpha.net/ORDO/Orphanet_319524
Combined oxidative phosphorylation defect type 9	Combined oxidative phosphorylation defect type 9	Orphanet	319509	http://www.orpha.net/ORDO/Orphanet_319509
Combined oxidative phosphorylation defect type 13	Combined oxidative phosphorylation defect type 13	Orphanet	319514	http://www.orpha.net/ORDO/Orphanet_319514
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	Orphanet	319589	http://www.orpha.net/ORDO/Orphanet_319589
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	Orphanet	319595	http://www.orpha.net/ORDO/Orphanet_319595
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	Orphanet	319574	http://www.orpha.net/ORDO/Orphanet_319574
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	Orphanet	319581	http://www.orpha.net/ORDO/Orphanet_319581
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	Orphanet	319563	http://www.orpha.net/ORDO/Orphanet_319563
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	Orphanet	319569	http://www.orpha.net/ORDO/Orphanet_319569
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	Orphanet	319552	http://www.orpha.net/ORDO/Orphanet_319552
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	Orphanet	319558	http://www.orpha.net/ORDO/Orphanet_319558
Constitutional megaloblastic anemia with severe neurologic disease	Constitutional megaloblastic anemia with severe neurologic disease	Orphanet	319651	http://www.orpha.net/ORDO/Orphanet_319651
PGM1-CDG	PGM1-CDG	Orphanet	319646	http://www.orpha.net/ORDO/Orphanet_319646
Retinal macular dystrophy type 2	Retinal macular dystrophy type 2	Orphanet	319640	http://www.orpha.net/ORDO/Orphanet_319640
Amyloidosis cutis dyschromia	Amyloidosis cutis dyschromia	Orphanet	319635	http://www.orpha.net/ORDO/Orphanet_319635
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency	X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency	Orphanet	319623	http://www.orpha.net/ORDO/Orphanet_319623
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency	X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency	Orphanet	319612	http://www.orpha.net/ORDO/Orphanet_319612
X-linked mendelian susceptibility to mycobacterial diseases	X-linked mendelian susceptibility to mycobacterial diseases	Orphanet	319605	http://www.orpha.net/ORDO/Orphanet_319605
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency	Orphanet	319600	http://www.orpha.net/ORDO/Orphanet_319600
NON RARE IN EUROPE: Inosine triphosphate pyrophosphatase deficiency	NON RARE IN EUROPE: Inosine triphosphate pyrophosphatase deficiency	Orphanet	319684	http://www.orpha.net/ORDO/Orphanet_319684
NON RARE IN EUROPE: Lactase non-persistence in adulthood	NON RARE IN EUROPE: Lactase non-persistence in adulthood	Orphanet	319681	http://www.orpha.net/ORDO/Orphanet_319681
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	Orphanet	319678	http://www.orpha.net/ORDO/Orphanet_319678
Microcephalic primordial dwarfism, Dauber type	Microcephalic primordial dwarfism, Dauber type	Orphanet	319675	http://www.orpha.net/ORDO/Orphanet_319675
Microcephalic primordial dwarfism, Alazami type	Microcephalic primordial dwarfism, Alazami type	Orphanet	319671	http://www.orpha.net/ORDO/Orphanet_319671
Primary lymphoma of the conjunctiva	Primary lymphoma of the conjunctiva	Orphanet	319667	http://www.orpha.net/ORDO/Orphanet_319667
NON RARE IN EUROPE: Unexplained intellectual disability	NON RARE IN EUROPE: Unexplained intellectual disability	Orphanet	319658	http://www.orpha.net/ORDO/Orphanet_319658
Kyasanur forest disease	Kyasanur forest disease	Orphanet	319254	http://www.orpha.net/ORDO/Orphanet_319254
Omsk hemorrhagic fever	Omsk hemorrhagic fever	Orphanet	319266	http://www.orpha.net/ORDO/Orphanet_319266
Clear cell renal carcinoma	Clear cell renal carcinoma	Orphanet	319276	http://www.orpha.net/ORDO/Orphanet_319276
Brazilian hemorrhagic fever	Brazilian hemorrhagic fever	Orphanet	319239	http://www.orpha.net/ORDO/Orphanet_319239
Chapare hemorrhagic fever	Chapare hemorrhagic fever	Orphanet	319244	http://www.orpha.net/ORDO/Orphanet_319244
Hantavirus pulmonary syndrome	Hantavirus pulmonary syndrome	Orphanet	319247	http://www.orpha.net/ORDO/Orphanet_319247
Rift valley fever	Rift valley fever	Orphanet	319251	http://www.orpha.net/ORDO/Orphanet_319251
Renal medullary carcinoma	Renal medullary carcinoma	Orphanet	319319	http://www.orpha.net/ORDO/Orphanet_319319
Mucinous tubular and spindle cell renal carcinoma	Mucinous tubular and spindle cell renal carcinoma	Orphanet	319322	http://www.orpha.net/ORDO/Orphanet_319322
Tubulocystic renal cell carcinoma	Tubulocystic renal cell carcinoma	Orphanet	319325	http://www.orpha.net/ORDO/Orphanet_319325
Multilocular cystic renal neoplasm of low malignant potential	Multilocular cystic renal neoplasm of low malignant potential	Orphanet	319287	http://www.orpha.net/ORDO/Orphanet_319287
Papillary renal cell carcinoma	Papillary renal cell carcinoma	Orphanet	319298	http://www.orpha.net/ORDO/Orphanet_319298
Chromophobe renal cell carcinoma	Chromophobe renal cell carcinoma	Orphanet	319303	http://www.orpha.net/ORDO/Orphanet_319303
MiT family translocation renal cell carcinoma	MiT family translocation renal cell carcinoma	Orphanet	319308	http://www.orpha.net/ORDO/Orphanet_319308
Autosomal recessive myogenic arthrogryposis multiplex congenita	Autosomal recessive myogenic arthrogryposis multiplex congenita	Orphanet	319332	http://www.orpha.net/ORDO/Orphanet_319332
Inherited renal cancer-predisposing syndrome	Inherited renal cancer-predisposing syndrome	Orphanet	319328	http://www.orpha.net/ORDO/Orphanet_319328
Carney complex-trismus-pseudocamptodactyly syndrome	Carney complex-trismus-pseudocamptodactyly syndrome	Orphanet	319340	http://www.orpha.net/ORDO/Orphanet_319340
Familial papillary or follicular thyroid carcinoma	Familial papillary or follicular thyroid carcinoma	Orphanet	319487	http://www.orpha.net/ORDO/Orphanet_319487
Acute myeloid leukemia with CEBPA somatic mutations	Acute myeloid leukemia with CEBPA somatic mutations	Orphanet	319480	http://www.orpha.net/ORDO/Orphanet_319480
Combined oxidative phosphorylation defect type 8	Combined oxidative phosphorylation defect type 8	Orphanet	319504	http://www.orpha.net/ORDO/Orphanet_319504
Familial nonmedullary thyroid carcinoma	Familial nonmedullary thyroid carcinoma	Orphanet	319494	http://www.orpha.net/ORDO/Orphanet_319494
Inherited acute myeloid leukemia	Inherited acute myeloid leukemia	Orphanet	319465	http://www.orpha.net/ORDO/Orphanet_319465
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations	Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations	Orphanet	319462	http://www.orpha.net/ORDO/Orphanet_319462
Bilateral massive adrenal hemorrhage	Bilateral massive adrenal hemorrhage	Orphanet	319205	http://www.orpha.net/ORDO/Orphanet_319205
Lujo hemorrhagic fever	Lujo hemorrhagic fever	Orphanet	319213	http://www.orpha.net/ORDO/Orphanet_319213
Chondroectodermal dysplasia with night blindness	Chondroectodermal dysplasia with night blindness	Orphanet	319195	http://www.orpha.net/ORDO/Orphanet_319195
Autosomal recessive spastic paraplegia type 53	Autosomal recessive spastic paraplegia type 53	Orphanet	319199	http://www.orpha.net/ORDO/Orphanet_319199
Bolivian hemorrhagic fever	Bolivian hemorrhagic fever	Orphanet	319229	http://www.orpha.net/ORDO/Orphanet_319229
Venezuelan hemorrhagic fever	Venezuelan hemorrhagic fever	Orphanet	319234	http://www.orpha.net/ORDO/Orphanet_319234
Ebola hemorrhagic fever	Ebola hemorrhagic fever	Orphanet	319218	http://www.orpha.net/ORDO/Orphanet_319218
Argentine hemorrhagic fever	Argentine hemorrhagic fever	Orphanet	319223	http://www.orpha.net/ORDO/Orphanet_319223
Congenital myopathy with internal nuclei and atypical cores	Congenital myopathy with internal nuclei and atypical cores	Orphanet	319160	http://www.orpha.net/ORDO/Orphanet_319160
Distal 17p13.1 microdeletion syndrome	Distal 17p13.1 microdeletion syndrome	Orphanet	319171	http://www.orpha.net/ORDO/Orphanet_319171
Familial cortical myoclonus	Familial cortical myoclonus	Orphanet	319189	http://www.orpha.net/ORDO/Orphanet_319189
Diencephalic-mesencephalic junction dysplasia	Diencephalic-mesencephalic junction dysplasia	Orphanet	319192	http://www.orpha.net/ORDO/Orphanet_319192
Wiedemann-Steiner syndrome	Wiedemann-Steiner syndrome	Orphanet	319182	http://www.orpha.net/ORDO/Orphanet_319182
T-B- severe combined immunodeficiency	T-B- severe combined immunodeficiency	Orphanet	317419	http://www.orpha.net/ORDO/Orphanet_317419
T-B+ severe combined immunodeficiency	T-B+ severe combined immunodeficiency	Orphanet	317416	http://www.orpha.net/ORDO/Orphanet_317416
Combined immunodeficiency due to ORAI1 deficiency	Combined immunodeficiency due to ORAI1 deficiency	Orphanet	317428	http://www.orpha.net/ORDO/Orphanet_317428
Severe combined immunodeficiency due to DNA-PKcs deficiency	Severe combined immunodeficiency due to DNA-PKcs deficiency	Orphanet	317425	http://www.orpha.net/ORDO/Orphanet_317425
Combined immunodeficiency due to STIM1 deficiency	Combined immunodeficiency due to STIM1 deficiency	Orphanet	317430	http://www.orpha.net/ORDO/Orphanet_317430
Pancytopenia due to IKZF1 mutations	Pancytopenia due to IKZF1 mutations	Orphanet	317473	http://www.orpha.net/ORDO/Orphanet_317473
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	Orphanet	317476	http://www.orpha.net/ORDO/Orphanet_317476
Autoimmune disease with skin involvement	Autoimmune disease with skin involvement	Orphanet	315350	http://www.orpha.net/ORDO/Orphanet_315350
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form	Orphanet	315311	http://www.orpha.net/ORDO/Orphanet_315311
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form	Orphanet	315306	http://www.orpha.net/ORDO/Orphanet_315306
Cataract-congenital heart disease-neural tube defect syndrome	Cataract-congenital heart disease-neural tube defect syndrome	Orphanet	314993	http://www.orpha.net/ORDO/Orphanet_314993
X-linked non progressive cerebellar ataxia	X-linked non progressive cerebellar ataxia	Orphanet	314978	http://www.orpha.net/ORDO/Orphanet_314978
Lymphocytic hypereosinophilic syndrome	Lymphocytic hypereosinophilic syndrome	Orphanet	314970	http://www.orpha.net/ORDO/Orphanet_314970
Secondary hypereosinophilic syndrome	Secondary hypereosinophilic syndrome	Orphanet	314962	http://www.orpha.net/ORDO/Orphanet_314962
Primary hypereosinophilic syndrome	Primary hypereosinophilic syndrome	Orphanet	314950	http://www.orpha.net/ORDO/Orphanet_314950
NON RARE IN EUROPE: Normal pressure hydrocephalus	NON RARE IN EUROPE: Normal pressure hydrocephalus	Orphanet	314928	http://www.orpha.net/ORDO/Orphanet_314928
Mild Canavan disease	Mild Canavan disease	Orphanet	314918	http://www.orpha.net/ORDO/Orphanet_314918
Severe Canavan disease	Severe Canavan disease	Orphanet	314911	http://www.orpha.net/ORDO/Orphanet_314911
Partial deletion of the short arm of chromosome 12	Partial deletion of the short arm of chromosome 12	Orphanet	316244	http://www.orpha.net/ORDO/Orphanet_316244
Autosomal dominant spastic ataxia	Autosomal dominant spastic ataxia	Orphanet	316235	http://www.orpha.net/ORDO/Orphanet_316235
Autosomal recessive spastic ataxia	Autosomal recessive spastic ataxia	Orphanet	316240	http://www.orpha.net/ORDO/Orphanet_316240
Spastic ataxia	Spastic ataxia	Orphanet	316226	http://www.orpha.net/ORDO/Orphanet_316226
Primary systemic amyloidosis	Primary systemic amyloidosis	Orphanet	314701	http://www.orpha.net/ORDO/Orphanet_314701
Acquired porencephaly	Acquired porencephaly	Orphanet	314697	http://www.orpha.net/ORDO/Orphanet_314697
Primary localized amyloidosis	Primary localized amyloidosis	Orphanet	314709	http://www.orpha.net/ORDO/Orphanet_314709
Cerebrofacioarticular syndrome	Cerebrofacioarticular syndrome	Orphanet	314679	http://www.orpha.net/ORDO/Orphanet_314679
TMEM165-CDG	TMEM165-CDG	Orphanet	314667	http://www.orpha.net/ORDO/Orphanet_314667
Combined immunodeficiency due to STK4 deficiency	Combined immunodeficiency due to STK4 deficiency	Orphanet	314689	http://www.orpha.net/ORDO/Orphanet_314689
Primary bone lymphoma	Primary bone lymphoma	Orphanet	314684	http://www.orpha.net/ORDO/Orphanet_314684
Variant ABeta2M amyloidosis	Variant ABeta2M amyloidosis	Orphanet	314652	http://www.orpha.net/ORDO/Orphanet_314652
Non-progressive cerebellar ataxia with intellectual disability	Non-progressive cerebellar ataxia with intellectual disability	Orphanet	314647	http://www.orpha.net/ORDO/Orphanet_314647
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	Orphanet	314662	http://www.orpha.net/ORDO/Orphanet_314662
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	Orphanet	314655	http://www.orpha.net/ORDO/Orphanet_314655
CLN11 disease	CLN11 disease	Orphanet	314629	http://www.orpha.net/ORDO/Orphanet_314629
Duplication of the pituitary gland	Duplication of the pituitary gland	Orphanet	314621	http://www.orpha.net/ORDO/Orphanet_314621
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	Orphanet	314637	http://www.orpha.net/ORDO/Orphanet_314637
ATP13A2-related juvenile neuronal ceroid lipofuscinosis	ATP13A2-related juvenile neuronal ceroid lipofuscinosis	Orphanet	314632	http://www.orpha.net/ORDO/Orphanet_314632
Short stature due to partial GHR deficiency	Short stature due to partial GHR deficiency	Orphanet	314802	http://www.orpha.net/ORDO/Orphanet_314802
Short stature due to GHSR deficiency	Short stature due to GHSR deficiency	Orphanet	314811	http://www.orpha.net/ORDO/Orphanet_314811
Primary renal tubular acidosis	Primary renal tubular acidosis	Orphanet	314822	http://www.orpha.net/ORDO/Orphanet_314822
Autosomal dominant proximal renal tubular acidosis	Autosomal dominant proximal renal tubular acidosis	Orphanet	314889	http://www.orpha.net/ORDO/Orphanet_314889
Familial isolated pituitary adenoma	Familial isolated pituitary adenoma	Orphanet	314777	http://www.orpha.net/ORDO/Orphanet_314777
Silent pituitary adenoma	Silent pituitary adenoma	Orphanet	314786	http://www.orpha.net/ORDO/Orphanet_314786
Null pituitary adenoma	Null pituitary adenoma	Orphanet	314790	http://www.orpha.net/ORDO/Orphanet_314790
SHOX-related short stature	SHOX-related short stature	Orphanet	314795	http://www.orpha.net/ORDO/Orphanet_314795
Functioning pituitary adenoma	Functioning pituitary adenoma	Orphanet	314753	http://www.orpha.net/ORDO/Orphanet_314753
Mixed functioning pituitary adenoma	Mixed functioning pituitary adenoma	Orphanet	314759	http://www.orpha.net/ORDO/Orphanet_314759
Somatomammotropinoma	Somatomammotropinoma	Orphanet	314769	http://www.orpha.net/ORDO/Orphanet_314769
Lethal arteriopathy syndrome due to fibulin-4 deficiency	Lethal arteriopathy syndrome due to fibulin-4 deficiency	Orphanet	314718	http://www.orpha.net/ORDO/Orphanet_314718
Atypical dentin dysplasia due to SMOC2 deficiency	Atypical dentin dysplasia due to SMOC2 deficiency	Orphanet	314721	http://www.orpha.net/ORDO/Orphanet_314721
Rare disease with Cushing syndrome as a major feature	Rare disease with Cushing syndrome as a major feature	Orphanet	314749	http://www.orpha.net/ORDO/Orphanet_314749
Medich giant platelet syndrome	Medich giant platelet syndrome	Orphanet	370127	http://www.orpha.net/ORDO/Orphanet_370127
Combined cervical dystonia	Combined cervical dystonia	Orphanet	370114	http://www.orpha.net/ORDO/Orphanet_370114
Ataxia-telangiectasia variant	Ataxia-telangiectasia variant	Orphanet	370109	http://www.orpha.net/ORDO/Orphanet_370109
Rare disorder with dystonia and other neurologic or systemic manifestation	Rare disorder with dystonia and other neurologic or systemic manifestation	Orphanet	370106	http://www.orpha.net/ORDO/Orphanet_370106
Primary dystonia, DYT17 type	Primary dystonia, DYT17 type	Orphanet	370103	http://www.orpha.net/ORDO/Orphanet_370103
Oculocutaneous albinism type 6	Oculocutaneous albinism type 6	Orphanet	370097	http://www.orpha.net/ORDO/Orphanet_370097
Oculocutaneous albinism type 5	Oculocutaneous albinism type 5	Orphanet	370091	http://www.orpha.net/ORDO/Orphanet_370091
Small cell carcinoma of the ovary	Small cell carcinoma of the ovary	Orphanet	370396	http://www.orpha.net/ORDO/Orphanet_370396
Peripheral primitive neuroectodermal tumor	Peripheral primitive neuroectodermal tumor	Orphanet	370348	http://www.orpha.net/ORDO/Orphanet_370348
Extraskeletal Ewing sarcoma	Extraskeletal Ewing sarcoma	Orphanet	370334	http://www.orpha.net/ORDO/Orphanet_370334
White platelet syndrome	White platelet syndrome	Orphanet	370131	http://www.orpha.net/ORDO/Orphanet_370131
Didymosis aplasticosebacea	Didymosis aplasticosebacea	Orphanet	370046	http://www.orpha.net/ORDO/Orphanet_370046
Familial syringomyelia	Familial syringomyelia	Orphanet	370034	http://www.orpha.net/ORDO/Orphanet_370034
Angora hair nevus	Angora hair nevus	Orphanet	370039	http://www.orpha.net/ORDO/Orphanet_370039
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	Orphanet	370022	http://www.orpha.net/ORDO/Orphanet_370022
Acute myeloid leukemia with t(8;16)(p11;p13) translocation	Acute myeloid leukemia with t(8;16)(p11;p13) translocation	Orphanet	370026	http://www.orpha.net/ORDO/Orphanet_370026
Spondyloepimetaphyseal dysplasia, Isidor type	Spondyloepimetaphyseal dysplasia, Isidor type	Orphanet	370015	http://www.orpha.net/ORDO/Orphanet_370015
Spondylometaphyseal dysplasia, Czarny-Ratajczak type	Spondylometaphyseal dysplasia, Czarny-Ratajczak type	Orphanet	370019	http://www.orpha.net/ORDO/Orphanet_370019
Acute infantile liver failure-multisystemic involvement syndrome	Acute infantile liver failure-multisystemic involvement syndrome	Orphanet	370088	http://www.orpha.net/ORDO/Orphanet_370088
Fetal carbamazepine syndrome	Fetal carbamazepine syndrome	Orphanet	370076	http://www.orpha.net/ORDO/Orphanet_370076
Proximal 16p11.2 microduplication syndrome	Proximal 16p11.2 microduplication syndrome	Orphanet	370079	http://www.orpha.net/ORDO/Orphanet_370079
Fetal anticonvulsant syndrome	Fetal anticonvulsant syndrome	Orphanet	370068	http://www.orpha.net/ORDO/Orphanet_370068
SCALP syndrome	SCALP syndrome	Orphanet	370052	http://www.orpha.net/ORDO/Orphanet_370052
NEVADA syndrome	NEVADA syndrome	Orphanet	370059	http://www.orpha.net/ORDO/Orphanet_370059
X-linked congenital disorder of glycosylation with intellectual disability as a major feature	X-linked congenital disorder of glycosylation with intellectual disability as a major feature	Orphanet	371054	http://www.orpha.net/ORDO/Orphanet_371054
Congenital disorder of glycosylation with neurological involvement	Congenital disorder of glycosylation with neurological involvement	Orphanet	371047	http://www.orpha.net/ORDO/Orphanet_371047
Congenital disorder of glycosylation with epilepsy as a major feature	Congenital disorder of glycosylation with epilepsy as a major feature	Orphanet	371071	http://www.orpha.net/ORDO/Orphanet_371071
Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	Orphanet	371064	http://www.orpha.net/ORDO/Orphanet_371064
Congenital muscular dystrophy with hyperlaxity	Congenital muscular dystrophy with hyperlaxity	Orphanet	371007	http://www.orpha.net/ORDO/Orphanet_371007
Muscle-eye-brain disease with bilateral multicystic leucodystrophy	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	Orphanet	370997	http://www.orpha.net/ORDO/Orphanet_370997
Primary qualitative or quantitative defects of alpha-dystroglycan	Primary qualitative or quantitative defects of alpha-dystroglycan	Orphanet	371040	http://www.orpha.net/ORDO/Orphanet_371040
Qualitative or quantitative defects of alpha-dystroglycan	Qualitative or quantitative defects of alpha-dystroglycan	Orphanet	371024	http://www.orpha.net/ORDO/Orphanet_371024
Congenital disorder of glycosylation with cardiac malformation as a major feature	Congenital disorder of glycosylation with cardiac malformation as a major feature	Orphanet	371183	http://www.orpha.net/ORDO/Orphanet_371183
Congenital disorder of glycosylation with dilated cardiomyopathy	Congenital disorder of glycosylation with dilated cardiomyopathy	Orphanet	371176	http://www.orpha.net/ORDO/Orphanet_371176
Congenital disorder of glycosylation-related bone disorder	Congenital disorder of glycosylation-related bone disorder	Orphanet	371195	http://www.orpha.net/ORDO/Orphanet_371195
Congenital disorder of glycosylation with intestinal involvement	Congenital disorder of glycosylation with intestinal involvement	Orphanet	371188	http://www.orpha.net/ORDO/Orphanet_371188
Congenital disorder of glycosylation with hepatic involvement	Congenital disorder of glycosylation with hepatic involvement	Orphanet	371157	http://www.orpha.net/ORDO/Orphanet_371157
STT3A-CDG	STT3A-CDG	Orphanet	370921	http://www.orpha.net/ORDO/Orphanet_370921
STT3B-CDG	STT3B-CDG	Orphanet	370924	http://www.orpha.net/ORDO/Orphanet_370924
SSR4-CDG	SSR4-CDG	Orphanet	370927	http://www.orpha.net/ORDO/Orphanet_370927
XYLT1-CDG	XYLT1-CDG	Orphanet	370930	http://www.orpha.net/ORDO/Orphanet_370930
Congenital muscular dystrophy due to dystroglycanopathy	Congenital muscular dystrophy due to dystroglycanopathy	Orphanet	370953	http://www.orpha.net/ORDO/Orphanet_370953
Congenital muscular dystrophy with cerebellar involvement	Congenital muscular dystrophy with cerebellar involvement	Orphanet	370959	http://www.orpha.net/ORDO/Orphanet_370959
Congenital muscular dystrophy with intellectual disability	Congenital muscular dystrophy with intellectual disability	Orphanet	370968	http://www.orpha.net/ORDO/Orphanet_370968
Congenital muscular dystrophy without intellectual disability	Congenital muscular dystrophy without intellectual disability	Orphanet	370980	http://www.orpha.net/ORDO/Orphanet_370980
GM3 synthase deficiency	GM3 synthase deficiency	Orphanet	370933	http://www.orpha.net/ORDO/Orphanet_370933
Salt-and-pepper syndrome	Salt-and-pepper syndrome	Orphanet	370938	http://www.orpha.net/ORDO/Orphanet_370938
Autism spectrum disorder-epilepsy-arthrogryposis syndrome	Autism spectrum disorder-epilepsy-arthrogryposis syndrome	Orphanet	370943	http://www.orpha.net/ORDO/Orphanet_370943
Primary short bowel syndrome	Primary short bowel syndrome	Orphanet	365563	http://www.orpha.net/ORDO/Orphanet_365563
Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	Orphanet	369929	http://www.orpha.net/ORDO/Orphanet_369929
Pontocerebellar hypoplasia type 9	Pontocerebellar hypoplasia type 9	Orphanet	369920	http://www.orpha.net/ORDO/Orphanet_369920
CADDS	CADDS	Orphanet	369942	http://www.orpha.net/ORDO/Orphanet_369942
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	Orphanet	369939	http://www.orpha.net/ORDO/Orphanet_369939
Methylmalonic acidemia with homocystinuria, type cblJ	Methylmalonic acidemia with homocystinuria, type cblJ	Orphanet	369955	http://www.orpha.net/ORDO/Orphanet_369955
Intellectual disability-seizures-macrocephaly-obesity syndrome	Intellectual disability-seizures-macrocephaly-obesity syndrome	Orphanet	369950	http://www.orpha.net/ORDO/Orphanet_369950
Microcornea-myopic chorioretinal atrophy-telecanthus syndrome	Microcornea-myopic chorioretinal atrophy-telecanthus syndrome	Orphanet	369970	http://www.orpha.net/ORDO/Orphanet_369970
Methylmalonic acidemia with homocystinuria, type cblX	Methylmalonic acidemia with homocystinuria, type cblX	Orphanet	369962	http://www.orpha.net/ORDO/Orphanet_369962
Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome	Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome	Orphanet	369979	http://www.orpha.net/ORDO/Orphanet_369979
Severe dermatitis-multiple allergies-metabolic wasting syndrome	Severe dermatitis-multiple allergies-metabolic wasting syndrome	Orphanet	369992	http://www.orpha.net/ORDO/Orphanet_369992
Focal palmoplantar keratoderma with joint keratoses	Focal palmoplantar keratoderma with joint keratoses	Orphanet	370002	http://www.orpha.net/ORDO/Orphanet_370002
Diffuse palmoplantar keratoderma with painful fissures	Diffuse palmoplantar keratoderma with painful fissures	Orphanet	369999	http://www.orpha.net/ORDO/Orphanet_369999
Intellectual disability-facial dysmorphism-hand anomalies syndrome	Intellectual disability-facial dysmorphism-hand anomalies syndrome	Orphanet	370010	http://www.orpha.net/ORDO/Orphanet_370010
Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome	Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome	Orphanet	370006	http://www.orpha.net/ORDO/Orphanet_370006
Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	Orphanet	369837	http://www.orpha.net/ORDO/Orphanet_369837
TRAPPC11-related  limb-girdle muscular dystrophy R18	TRAPPC11-related  limb-girdle muscular dystrophy R18	Orphanet	369840	http://www.orpha.net/ORDO/Orphanet_369840
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome	Orphanet	369847	http://www.orpha.net/ORDO/Orphanet_369847
Congenital neutropenia-myelofibrosis-nephromegaly syndrome	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	Orphanet	369852	http://www.orpha.net/ORDO/Orphanet_369852
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	Orphanet	369861	http://www.orpha.net/ORDO/Orphanet_369861
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C	Orphanet	369867	http://www.orpha.net/ORDO/Orphanet_369867
Obesity due to SIM1 deficiency	Obesity due to SIM1 deficiency	Orphanet	369873	http://www.orpha.net/ORDO/Orphanet_369873
2p21 microdeletion syndrome without cystinuria	2p21 microdeletion syndrome without cystinuria	Orphanet	369881	http://www.orpha.net/ORDO/Orphanet_369881
Homozygous 2p21 microdeletion syndrome	Homozygous 2p21 microdeletion syndrome	Orphanet	369886	http://www.orpha.net/ORDO/Orphanet_369886
Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	Orphanet	369891	http://www.orpha.net/ORDO/Orphanet_369891
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies	Orphanet	369897	http://www.orpha.net/ORDO/Orphanet_369897
Combined oxidative phosphorylation defect type 17	Combined oxidative phosphorylation defect type 17	Orphanet	369913	http://www.orpha.net/ORDO/Orphanet_369913
Infantile epileptic-dyskinetic encephalopathy	Infantile epileptic-dyskinetic encephalopathy	Orphanet	364063	http://www.orpha.net/ORDO/Orphanet_364063
Severe early-childhood-onset retinal dystrophy	Severe early-childhood-onset retinal dystrophy	Orphanet	364055	http://www.orpha.net/ORDO/Orphanet_364055
Hydroa vacciniforme-like lymphoma	Hydroa vacciniforme-like lymphoma	Orphanet	364039	http://www.orpha.net/ORDO/Orphanet_364039
ALK-positive large B-cell lymphoma	ALK-positive large B-cell lymphoma	Orphanet	364043	http://www.orpha.net/ORDO/Orphanet_364043
X-linked intellectual disability due to GRIA3 mutations	X-linked intellectual disability due to GRIA3 mutations	Orphanet	364028	http://www.orpha.net/ORDO/Orphanet_364028
Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood	Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood	Orphanet	364033	http://www.orpha.net/ORDO/Orphanet_364033
Infantile Refsum disease	Infantile Refsum disease	Orphanet	772	http://www.orpha.net/ORDO/Orphanet_772
TMEM70-related mitochondrial encephalo-cardio-myopathy	TMEM70-related mitochondrial encephalo-cardio-myopathy	Orphanet	1194	http://www.orpha.net/ORDO/Orphanet_1194
Non-immune hydrops fetalis	Non-immune hydrops fetalis	Orphanet	363999	http://www.orpha.net/ORDO/Orphanet_363999
Isolated anencephaly/exencephaly	Isolated anencephaly/exencephaly	Orphanet	1048	http://www.orpha.net/ORDO/Orphanet_1048
Immune hydrops fetalis	Immune hydrops fetalis	Orphanet	364013	http://www.orpha.net/ORDO/Orphanet_364013
Familial benign flecked retina	Familial benign flecked retina	Orphanet	363989	http://www.orpha.net/ORDO/Orphanet_363989
Isolated spina bifida	Isolated spina bifida	Orphanet	823	http://www.orpha.net/ORDO/Orphanet_823
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome	Ichthyosis-short stature-brachydactyly-microspherophakia syndrome	Orphanet	363992	http://www.orpha.net/ORDO/Orphanet_363992
Giant cell tumor of bone	Giant cell tumor of bone	Orphanet	363976	http://www.orpha.net/ORDO/Orphanet_363976
Charcot-Marie-Tooth disease type 4B3	Charcot-Marie-Tooth disease type 4B3	Orphanet	363981	http://www.orpha.net/ORDO/Orphanet_363981
Autosomal recessive cerebral atrophy	Autosomal recessive cerebral atrophy	Orphanet	363969	http://www.orpha.net/ORDO/Orphanet_363969
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia	Orphanet	363972	http://www.orpha.net/ORDO/Orphanet_363972
Koolen-De Vries syndrome due to a point mutation	Koolen-De Vries syndrome due to a point mutation	Orphanet	363965	http://www.orpha.net/ORDO/Orphanet_363965
17q21.31 microdeletion syndrome	17q21.31 microdeletion syndrome	Orphanet	363958	http://www.orpha.net/ORDO/Orphanet_363958
Balint syndrome	Balint syndrome	Orphanet	363746	http://www.orpha.net/ORDO/Orphanet_363746
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome	Orphanet	363741	http://www.orpha.net/ORDO/Orphanet_363741
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia	X-linked dyserythropoietic anemia with abnormal platelets and neutropenia	Orphanet	363727	http://www.orpha.net/ORDO/Orphanet_363727
Alexander disease type II	Alexander disease type II	Orphanet	363722	http://www.orpha.net/ORDO/Orphanet_363722
Alexander disease type I	Alexander disease type I	Orphanet	363717	http://www.orpha.net/ORDO/Orphanet_363717
Spinocerebellar ataxia type 37	Spinocerebellar ataxia type 37	Orphanet	363710	http://www.orpha.net/ORDO/Orphanet_363710
Craniofaciofrontodigital syndrome	Craniofaciofrontodigital syndrome	Orphanet	363705	http://www.orpha.net/ORDO/Orphanet_363705
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	Orphanet	363700	http://www.orpha.net/ORDO/Orphanet_363700
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome	Orphanet	363694	http://www.orpha.net/ORDO/Orphanet_363694
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	Orphanet	363686	http://www.orpha.net/ORDO/Orphanet_363686
2p13.2 microdeletion syndrome	2p13.2 microdeletion syndrome	Orphanet	363680	http://www.orpha.net/ORDO/Orphanet_363680
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Orphanet	363677	http://www.orpha.net/ORDO/Orphanet_363677
Rare bone disease related to a common gene or pathway defect	Rare bone disease related to a common gene or pathway defect	Orphanet	364803	http://www.orpha.net/ORDO/Orphanet_364803
Aggrecan-related bone disorder	Aggrecan-related bone disorder	Orphanet	364817	http://www.orpha.net/ORDO/Orphanet_364817
TRPV4-related bone disorder	TRPV4-related bone disorder	Orphanet	364820	http://www.orpha.net/ORDO/Orphanet_364820
Acrofacial dysostosis	Acrofacial dysostosis	Orphanet	364574	http://www.orpha.net/ORDO/Orphanet_364574
Dysostosis with limb and face anomalies as a major feature	Dysostosis with limb and face anomalies as a major feature	Orphanet	364571	http://www.orpha.net/ORDO/Orphanet_364571
Intellectual disability-brachydactyly-Pierre Robin syndrome	Intellectual disability-brachydactyly-Pierre Robin syndrome	Orphanet	364577	http://www.orpha.net/ORDO/Orphanet_364577
Dysostosis	Dysostosis	Orphanet	364559	http://www.orpha.net/ORDO/Orphanet_364559
Otopalatodigital syndrome spectrum disorder	Otopalatodigital syndrome spectrum disorder	Orphanet	364541	http://www.orpha.net/ORDO/Orphanet_364541
Dysostosis with limb anomaly as a major feature	Dysostosis with limb anomaly as a major feature	Orphanet	364568	http://www.orpha.net/ORDO/Orphanet_364568
Primary bone dysplasia	Primary bone dysplasia	Orphanet	364526	http://www.orpha.net/ORDO/Orphanet_364526
Primary bone dysplasia with micromelia	Primary bone dysplasia with micromelia	Orphanet	364536	http://www.orpha.net/ORDO/Orphanet_364536
Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments	Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments	Orphanet	364531	http://www.orpha.net/ORDO/Orphanet_364531
Bipartite talus	Bipartite talus	Orphanet	364198	http://www.orpha.net/ORDO/Orphanet_364198
Temtamy preaxial brachydactyly syndrome	Temtamy preaxial brachydactyly syndrome	Orphanet	363417	http://www.orpha.net/ORDO/Orphanet_363417
Fetal akinesia-cerebral and retinal hemorrhage syndrome	Fetal akinesia-cerebral and retinal hemorrhage syndrome	Orphanet	363409	http://www.orpha.net/ORDO/Orphanet_363409
Hypomyelination with brain stem and spinal cord involvement and leg spasticity	Hypomyelination with brain stem and spinal cord involvement and leg spasticity	Orphanet	363412	http://www.orpha.net/ORDO/Orphanet_363412
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome	Orphanet	363429	http://www.orpha.net/ORDO/Orphanet_363429
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency	Orphanet	363432	http://www.orpha.net/ORDO/Orphanet_363432
Multiple mitochondrial dysfunctions syndrome type 3	Multiple mitochondrial dysfunctions syndrome type 3	Orphanet	363424	http://www.orpha.net/ORDO/Orphanet_363424
Genetic intestinal polyposis	Genetic intestinal polyposis	Orphanet	363314	http://www.orpha.net/ORDO/Orphanet_363314
Genetic intractable diarrhea of infancy	Genetic intractable diarrhea of infancy	Orphanet	363300	http://www.orpha.net/ORDO/Orphanet_363300
Genetic intestinal disease due to fat malabsorption	Genetic intestinal disease due to fat malabsorption	Orphanet	363306	http://www.orpha.net/ORDO/Orphanet_363306
High myopia-sensorineural deafness syndrome	High myopia-sensorineural deafness syndrome	Orphanet	363396	http://www.orpha.net/ORDO/Orphanet_363396
Severe neurodegenerative syndrome with lipodystrophy	Severe neurodegenerative syndrome with lipodystrophy	Orphanet	363400	http://www.orpha.net/ORDO/Orphanet_363400
Ciliopathy	Ciliopathy	Orphanet	363250	http://www.orpha.net/ORDO/Orphanet_363250
Genetic syndromic Pierre Robin syndrome	Genetic syndromic Pierre Robin syndrome	Orphanet	363294	http://www.orpha.net/ORDO/Orphanet_363294
Genetic progeroid syndrome	Genetic progeroid syndrome	Orphanet	363245	http://www.orpha.net/ORDO/Orphanet_363245
Ring chromosome	Ring chromosome	Orphanet	363203	http://www.orpha.net/ORDO/Orphanet_363203
Congenital anomaly of the great veins	Congenital anomaly of the great veins	Orphanet	363189	http://www.orpha.net/ORDO/Orphanet_363189
LMNA-related cardiocutaneous progeria syndrome	LMNA-related cardiocutaneous progeria syndrome	Orphanet	363618	http://www.orpha.net/ORDO/Orphanet_363618
GMPPB-related  limb-girdle muscular dystrophy R19	GMPPB-related  limb-girdle muscular dystrophy R19	Orphanet	363623	http://www.orpha.net/ORDO/Orphanet_363623
Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome	Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome	Orphanet	363649	http://www.orpha.net/ORDO/Orphanet_363649
X-linked parkinsonism-spasticity syndrome	X-linked parkinsonism-spasticity syndrome	Orphanet	363654	http://www.orpha.net/ORDO/Orphanet_363654
20q11.2 microduplication syndrome	20q11.2 microduplication syndrome	Orphanet	363659	http://www.orpha.net/ORDO/Orphanet_363659
Acroosteolysis-keloid-like lesions-premature aging syndrome	Acroosteolysis-keloid-like lesions-premature aging syndrome	Orphanet	363665	http://www.orpha.net/ORDO/Orphanet_363665
Leukoencephalopathy with mild cerebellar ataxia and white matter edema	Leukoencephalopathy with mild cerebellar ataxia and white matter edema	Orphanet	363540	http://www.orpha.net/ORDO/Orphanet_363540
Autosomal recessive limb-girdle muscular dystrophy type 2R	Autosomal recessive limb-girdle muscular dystrophy type 2R	Orphanet	363543	http://www.orpha.net/ORDO/Orphanet_363543
Acute encephalopathy with biphasic seizures and late reduced diffusion	Acute encephalopathy with biphasic seizures and late reduced diffusion	Orphanet	363549	http://www.orpha.net/ORDO/Orphanet_363549
New-onset refractory status epilepticus	New-onset refractory status epilepticus	Orphanet	363558	http://www.orpha.net/ORDO/Orphanet_363558
Acute encephalopathy with inflammation-mediated status epilepticus	Acute encephalopathy with inflammation-mediated status epilepticus	Orphanet	363567	http://www.orpha.net/ORDO/Orphanet_363567
Extragonadal germ cell tumor	Extragonadal germ cell tumor	Orphanet	363579	http://www.orpha.net/ORDO/Orphanet_363579
Gonadal germ cell tumor	Gonadal germ cell tumor	Orphanet	363582	http://www.orpha.net/ORDO/Orphanet_363582
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	Orphanet	363611	http://www.orpha.net/ORDO/Orphanet_363611
Germ cell tumor of testis	Germ cell tumor of testis	Orphanet	363504	http://www.orpha.net/ORDO/Orphanet_363504
Non-seminomatous germ cell tumor of testis	Non-seminomatous germ cell tumor of testis	Orphanet	363494	http://www.orpha.net/ORDO/Orphanet_363494
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	Orphanet	363523	http://www.orpha.net/ORDO/Orphanet_363523
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form	Orphanet	363534	http://www.orpha.net/ORDO/Orphanet_363534
Intellectual disability-strabismus syndrome	Intellectual disability-strabismus syndrome	Orphanet	363528	http://www.orpha.net/ORDO/Orphanet_363528
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Orphanet	363444	http://www.orpha.net/ORDO/Orphanet_363444
BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy	Orphanet	363454	http://www.orpha.net/ORDO/Orphanet_363454
Autosomal dominant childhood-onset proximal spinal muscular atrophy	Autosomal dominant childhood-onset proximal spinal muscular atrophy	Orphanet	363447	http://www.orpha.net/ORDO/Orphanet_363447
Paratesticular adenocarcinoma	Paratesticular adenocarcinoma	Orphanet	363478	http://www.orpha.net/ORDO/Orphanet_363478
Tumor of testis and paratestis	Tumor of testis and paratestis	Orphanet	363472	http://www.orpha.net/ORDO/Orphanet_363472
Sex cord-stromal tumor of testis	Sex cord-stromal tumor of testis	Orphanet	363489	http://www.orpha.net/ORDO/Orphanet_363489
Testicular teratoma	Testicular teratoma	Orphanet	363483	http://www.orpha.net/ORDO/Orphanet_363483
Short ulna-dysmorphism-hypotonia-intellectual disability syndrome	Short ulna-dysmorphism-hypotonia-intellectual disability syndrome	Orphanet	357175	http://www.orpha.net/ORDO/Orphanet_357175
Combined immunodeficiency due to IL21R deficiency	Combined immunodeficiency due to IL21R deficiency	Orphanet	357329	http://www.orpha.net/ORDO/Orphanet_357329
Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome	Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome	Orphanet	357332	http://www.orpha.net/ORDO/Orphanet_357332
Primary essential cutis verticis gyrata	Primary essential cutis verticis gyrata	Orphanet	357220	http://www.orpha.net/ORDO/Orphanet_357220
Primary non-essential cutis verticis gyrata	Primary non-essential cutis verticis gyrata	Orphanet	357225	http://www.orpha.net/ORDO/Orphanet_357225
Severe combined immunodeficiency due to CARD11 deficiency	Severe combined immunodeficiency due to CARD11 deficiency	Orphanet	357237	http://www.orpha.net/ORDO/Orphanet_357237
Genetic non-syndromic renal or urinary tract malformation	Genetic non-syndromic renal or urinary tract malformation	Orphanet	357506	http://www.orpha.net/ORDO/Orphanet_357506
Idiopathic nephrotic syndrome	Idiopathic nephrotic syndrome	Orphanet	357502	http://www.orpha.net/ORDO/Orphanet_357502
D,L-2-hydroxyglutaric aciduria	D,L-2-hydroxyglutaric aciduria	Orphanet	356978	http://www.orpha.net/ORDO/Orphanet_356978
3q26q27 microdeletion syndrome	3q26q27 microdeletion syndrome	Orphanet	356947	http://www.orpha.net/ORDO/Orphanet_356947
SLC35A2-CDG	SLC35A2-CDG	Orphanet	356961	http://www.orpha.net/ORDO/Orphanet_356961
Hemolytic uremic syndrome with DGKE deficiency	Hemolytic uremic syndrome with DGKE deficiency	Orphanet	357008	http://www.orpha.net/ORDO/Orphanet_357008
19p13.13 microdeletion syndrome	19p13.13 microdeletion syndrome	Orphanet	357001	http://www.orpha.net/ORDO/Orphanet_357001
ANK3-related intellectual disability-sleep disturbance syndrome	ANK3-related intellectual disability-sleep disturbance syndrome	Orphanet	356996	http://www.orpha.net/ORDO/Orphanet_356996
Amyotrophic lateral sclerosis type 4	Amyotrophic lateral sclerosis type 4	Orphanet	357043	http://www.orpha.net/ORDO/Orphanet_357043
Non-hereditary retinoblastoma	Non-hereditary retinoblastoma	Orphanet	357034	http://www.orpha.net/ORDO/Orphanet_357034
Hereditary retinoblastoma	Hereditary retinoblastoma	Orphanet	357027	http://www.orpha.net/ORDO/Orphanet_357027
Autosomal recessive cutis laxa type 2, classic type	Autosomal recessive cutis laxa type 2, classic type	Orphanet	357074	http://www.orpha.net/ORDO/Orphanet_357074
Autosomal recessive cutis laxa type 2B	Autosomal recessive cutis laxa type 2B	Orphanet	357064	http://www.orpha.net/ORDO/Orphanet_357064
Autosomal recessive cutis laxa type 2A	Autosomal recessive cutis laxa type 2A	Orphanet	357058	http://www.orpha.net/ORDO/Orphanet_357058
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome	Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome	Orphanet	357158	http://www.orpha.net/ORDO/Orphanet_357158
Oral submucous fibrosis	Oral submucous fibrosis	Orphanet	357154	http://www.orpha.net/ORDO/Orphanet_357154
Venous thoracic outlet syndrome	Venous thoracic outlet syndrome	Orphanet	357131	http://www.orpha.net/ORDO/Orphanet_357131
Arterial thoracic outlet syndrome	Arterial thoracic outlet syndrome	Orphanet	357107	http://www.orpha.net/ORDO/Orphanet_357107
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome	Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome	Orphanet	352654	http://www.orpha.net/ORDO/Orphanet_352654
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome	Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome	Orphanet	352662	http://www.orpha.net/ORDO/Orphanet_352662
Hereditary benign intraepithelial dyskeratosis	Hereditary benign intraepithelial dyskeratosis	Orphanet	352657	http://www.orpha.net/ORDO/Orphanet_352657
Autosomal recessive cerebellar ataxia with late-onset spasticity	Autosomal recessive cerebellar ataxia with late-onset spasticity	Orphanet	352641	http://www.orpha.net/ORDO/Orphanet_352641
Phalangeal microgeodic syndrome	Phalangeal microgeodic syndrome	Orphanet	352636	http://www.orpha.net/ORDO/Orphanet_352636
Brain dopamine-serotonin vesicular transport disease	Brain dopamine-serotonin vesicular transport disease	Orphanet	352649	http://www.orpha.net/ORDO/Orphanet_352649
Progressive myoclonic epilepsy with dystonia	Progressive myoclonic epilepsy with dystonia	Orphanet	352596	http://www.orpha.net/ORDO/Orphanet_352596
16q24.1 microdeletion syndrome	16q24.1 microdeletion syndrome	Orphanet	352629	http://www.orpha.net/ORDO/Orphanet_352629
Male infertility due to NANOS1 mutation	Male infertility due to NANOS1 mutation	Orphanet	352613	http://www.orpha.net/ORDO/Orphanet_352613
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	Orphanet	352577	http://www.orpha.net/ORDO/Orphanet_352577
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation	Focal epilepsy-intellectual disability-cerebro-cerebellar malformation	Orphanet	352587	http://www.orpha.net/ORDO/Orphanet_352587
Familial infantile myoclonic epilepsy	Familial infantile myoclonic epilepsy	Orphanet	352582	http://www.orpha.net/ORDO/Orphanet_352582
Disorder of melanin metabolism	Disorder of melanin metabolism	Orphanet	352728	http://www.orpha.net/ORDO/Orphanet_352728
Oculocutaneous albinism type 1	Oculocutaneous albinism type 1	Orphanet	352731	http://www.orpha.net/ORDO/Orphanet_352731
Minimal pigment oculocutaneous albinism type 1	Minimal pigment oculocutaneous albinism type 1	Orphanet	352734	http://www.orpha.net/ORDO/Orphanet_352734
Temperature-sensitive oculocutaneous albinism type 1	Temperature-sensitive oculocutaneous albinism type 1	Orphanet	352737	http://www.orpha.net/ORDO/Orphanet_352737
CLN13 disease	CLN13 disease	Orphanet	352709	http://www.orpha.net/ORDO/Orphanet_352709
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome	Orphanet	352712	http://www.orpha.net/ORDO/Orphanet_352712
Progressive retinal dystrophy due to retinol transport defect	Progressive retinal dystrophy due to retinol transport defect	Orphanet	352718	http://www.orpha.net/ORDO/Orphanet_352718
Attenuated Chédiak-Higashi syndrome	Attenuated Chédiak-Higashi syndrome	Orphanet	352723	http://www.orpha.net/ORDO/Orphanet_352723
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies	Orphanet	352687	http://www.orpha.net/ORDO/Orphanet_352687
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	Orphanet	352665	http://www.orpha.net/ORDO/Orphanet_352665
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F	Autosomal dominant intermediate Charcot-Marie-Tooth disease type F	Orphanet	352670	http://www.orpha.net/ORDO/Orphanet_352670
X-linked Charcot-Marie-Tooth disease type 6	X-linked Charcot-Marie-Tooth disease type 6	Orphanet	352675	http://www.orpha.net/ORDO/Orphanet_352675
Cobblestone lissencephaly without muscular or ocular involvement	Cobblestone lissencephaly without muscular or ocular involvement	Orphanet	352682	http://www.orpha.net/ORDO/Orphanet_352682
Rubinstein-Taybi syndrome due to CREBBP mutations	Rubinstein-Taybi syndrome due to CREBBP mutations	Orphanet	353277	http://www.orpha.net/ORDO/Orphanet_353277
Burning mouth syndrome	Burning mouth syndrome	Orphanet	353253	http://www.orpha.net/ORDO/Orphanet_353253
NON RARE IN EUROPE: Primary adult open-angle glaucoma	NON RARE IN EUROPE: Primary adult open-angle glaucoma	Orphanet	353225	http://www.orpha.net/ORDO/Orphanet_353225
Familial primary localized cutaneous amyloidosis	Familial primary localized cutaneous amyloidosis	Orphanet	353220	http://www.orpha.net/ORDO/Orphanet_353220
Epileptic encephalopathy with global cerebral demyelination	Epileptic encephalopathy with global cerebral demyelination	Orphanet	353217	http://www.orpha.net/ORDO/Orphanet_353217
Scleredema	Scleredema	Orphanet	352763	http://www.orpha.net/ORDO/Orphanet_352763
Oculocutaneous albinism type 7	Oculocutaneous albinism type 7	Orphanet	352745	http://www.orpha.net/ORDO/Orphanet_352745
Ocular albinism with congenital sensorineural deafness	Ocular albinism with congenital sensorineural deafness	Orphanet	352740	http://www.orpha.net/ORDO/Orphanet_352740
Vasoproliferative tumor of the retina	Vasoproliferative tumor of the retina	Orphanet	353356	http://www.orpha.net/ORDO/Orphanet_353356
Idiopathic macular telangiectasia type 1	Idiopathic macular telangiectasia type 1	Orphanet	353344	http://www.orpha.net/ORDO/Orphanet_353344
Idiopathic macular telangiectasia type 3	Idiopathic macular telangiectasia type 3	Orphanet	353351	http://www.orpha.net/ORDO/Orphanet_353351
Congenital retinal arteriovenous communication	Congenital retinal arteriovenous communication	Orphanet	353334	http://www.orpha.net/ORDO/Orphanet_353334
Pyruvate carboxylase deficiency, benign type	Pyruvate carboxylase deficiency, benign type	Orphanet	353320	http://www.orpha.net/ORDO/Orphanet_353320
Congenital myasthenic syndromes with glycosylation defect	Congenital myasthenic syndromes with glycosylation defect	Orphanet	353327	http://www.orpha.net/ORDO/Orphanet_353327
Pyruvate carboxylase deficiency, infantile type	Pyruvate carboxylase deficiency, infantile type	Orphanet	353308	http://www.orpha.net/ORDO/Orphanet_353308
Pyruvate carboxylase deficiency, severe neonatal type	Pyruvate carboxylase deficiency, severe neonatal type	Orphanet	353314	http://www.orpha.net/ORDO/Orphanet_353314
Roifman syndrome	Roifman syndrome	Orphanet	353298	http://www.orpha.net/ORDO/Orphanet_353298
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	Orphanet	353281	http://www.orpha.net/ORDO/Orphanet_353281
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Orphanet	353284	http://www.orpha.net/ORDO/Orphanet_353284
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis	Orphanet	352301	http://www.orpha.net/ORDO/Orphanet_352301
Spectrin-associated autosomal recessive cerebellar ataxia	Spectrin-associated autosomal recessive cerebellar ataxia	Orphanet	352403	http://www.orpha.net/ORDO/Orphanet_352403
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome	Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome	Orphanet	352333	http://www.orpha.net/ORDO/Orphanet_352333
MEGDEL syndrome	MEGDEL syndrome	Orphanet	352328	http://www.orpha.net/ORDO/Orphanet_352328
Progressive external ophthalmoplegia-myopathy-emaciation syndrome	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	Orphanet	352447	http://www.orpha.net/ORDO/Orphanet_352447
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement	Orphanet	352312	http://www.orpha.net/ORDO/Orphanet_352312
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement	Orphanet	352309	http://www.orpha.net/ORDO/Orphanet_352309
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement	Orphanet	352306	http://www.orpha.net/ORDO/Orphanet_352306
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	Orphanet	352530	http://www.orpha.net/ORDO/Orphanet_352530
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	Orphanet	352563	http://www.orpha.net/ORDO/Orphanet_352563
Oncogenic osteomalacia	Oncogenic osteomalacia	Orphanet	352540	http://www.orpha.net/ORDO/Orphanet_352540
ISPD-related  limb-girdle muscular dystrophy R20	ISPD-related  limb-girdle muscular dystrophy R20	Orphanet	352479	http://www.orpha.net/ORDO/Orphanet_352479
Mitochondrial DNA maintenance syndrome	Mitochondrial DNA maintenance syndrome	Orphanet	352456	http://www.orpha.net/ORDO/Orphanet_352456
DNA2-related mitochondrial DNA deletion syndrome	DNA2-related mitochondrial DNA deletion syndrome	Orphanet	352470	http://www.orpha.net/ORDO/Orphanet_352470
Digital anomalies-intellectual disability-short stature syndrome	Digital anomalies-intellectual disability-short stature syndrome	Orphanet	352487	http://www.orpha.net/ORDO/Orphanet_352487
Autism spectrum disorder due to AUTS2 deficiency	Autism spectrum disorder due to AUTS2 deficiency	Orphanet	352490	http://www.orpha.net/ORDO/Orphanet_352490
Congenital joint dislocations	Congenital joint dislocations	Orphanet	294951	http://www.orpha.net/ORDO/Orphanet_294951
Joint formation defects	Joint formation defects	Orphanet	294949	http://www.orpha.net/ORDO/Orphanet_294949
Syndrome with limb reduction defects	Syndrome with limb reduction defects	Orphanet	294955	http://www.orpha.net/ORDO/Orphanet_294955
Non syndromic limb overgrowth	Non syndromic limb overgrowth	Orphanet	294953	http://www.orpha.net/ORDO/Orphanet_294953
Congenital deformities of fingers	Congenital deformities of fingers	Orphanet	294947	http://www.orpha.net/ORDO/Orphanet_294947
Congenital deformities of limbs	Congenital deformities of limbs	Orphanet	294944	http://www.orpha.net/ORDO/Orphanet_294944
Amelia	Amelia	Orphanet	294925	http://www.orpha.net/ORDO/Orphanet_294925
Intercalary limb defects	Intercalary limb defects	Orphanet	294927	http://www.orpha.net/ORDO/Orphanet_294927
Renal-hepatic-pancreatic dysplasia	Renal-hepatic-pancreatic dysplasia	Orphanet	294415	http://www.orpha.net/ORDO/Orphanet_294415
Chronic intestinal failure	Chronic intestinal failure	Orphanet	294422	http://www.orpha.net/ORDO/Orphanet_294422
Reunion Island Larsen-like syndrome	Reunion Island Larsen-like syndrome	Orphanet	294049	http://www.orpha.net/ORDO/Orphanet_294049
Rare nevus	Rare nevus	Orphanet	294057	http://www.orpha.net/ORDO/Orphanet_294057
Multiple pterygium syndrome	Multiple pterygium syndrome	Orphanet	294060	http://www.orpha.net/ORDO/Orphanet_294060
Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome	Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome	Orphanet	293987	http://www.orpha.net/ORDO/Orphanet_293987
Microcephaly-capillary malformation syndrome	Microcephaly-capillary malformation syndrome	Orphanet	294016	http://www.orpha.net/ORDO/Orphanet_294016
Neonatal inflammatory skin and bowel disease	Neonatal inflammatory skin and bowel disease	Orphanet	294023	http://www.orpha.net/ORDO/Orphanet_294023
Syndactyly-nystagmus syndrome due to 2q31.1 microduplication	Syndactyly-nystagmus syndrome due to 2q31.1 microduplication	Orphanet	294026	http://www.orpha.net/ORDO/Orphanet_294026
Hypoinsulinemic hypoglycemia and body hemihypertrophy	Hypoinsulinemic hypoglycemia and body hemihypertrophy	Orphanet	293964	http://www.orpha.net/ORDO/Orphanet_293964
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome	Orphanet	293967	http://www.orpha.net/ORDO/Orphanet_293967
Deficiency in anterior pituitary function-variable immunodeficiency syndrome	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	Orphanet	293978	http://www.orpha.net/ORDO/Orphanet_293978
Hypertelorism-preauricular sinus-punctual pits-deafness syndrome	Hypertelorism-preauricular sinus-punctual pits-deafness syndrome	Orphanet	293958	http://www.orpha.net/ORDO/Orphanet_293958
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Orphanet	293955	http://www.orpha.net/ORDO/Orphanet_293955
1p21.3 microdeletion syndrome	1p21.3 microdeletion syndrome	Orphanet	293948	http://www.orpha.net/ORDO/Orphanet_293948
Distal Xq28 microduplication syndrome	Distal Xq28 microduplication syndrome	Orphanet	293939	http://www.orpha.net/ORDO/Orphanet_293939
EDICT syndrome	EDICT syndrome	Orphanet	293936	http://www.orpha.net/ORDO/Orphanet_293936
Lethal occipital encephalocele-skeletal dysplasia syndrome	Lethal occipital encephalocele-skeletal dysplasia syndrome	Orphanet	293925	http://www.orpha.net/ORDO/Orphanet_293925
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form	Familial isolated arrhythmogenic ventricular dysplasia, right dominant form	Orphanet	293910	http://www.orpha.net/ORDO/Orphanet_293910
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form	Familial isolated arrhythmogenic ventricular dysplasia, biventricular form	Orphanet	293899	http://www.orpha.net/ORDO/Orphanet_293899
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form	Familial isolated arrhythmogenic ventricular dysplasia, left dominant form	Orphanet	293888	http://www.orpha.net/ORDO/Orphanet_293888
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome	Orphanet	293864	http://www.orpha.net/ORDO/Orphanet_293864
Frontotemporal dementia, right temporal atrophy variant	Frontotemporal dementia, right temporal atrophy variant	Orphanet	293848	http://www.orpha.net/ORDO/Orphanet_293848
Fatal infantile encephalopathy-pulmonary hypertension syndrome	Fatal infantile encephalopathy-pulmonary hypertension syndrome	Orphanet	293838	http://www.orpha.net/ORDO/Orphanet_293838
3MC syndrome	3MC syndrome	Orphanet	293843	http://www.orpha.net/ORDO/Orphanet_293843
Constitutional dyserythropoietic anemia	Constitutional dyserythropoietic anemia	Orphanet	293830	http://www.orpha.net/ORDO/Orphanet_293830
MITF-related melanoma and renal cell carcinoma predisposition syndrome	MITF-related melanoma and renal cell carcinoma predisposition syndrome	Orphanet	293822	http://www.orpha.net/ORDO/Orphanet_293822
Congenital dyserythropoietic anemia type IV	Congenital dyserythropoietic anemia type IV	Orphanet	293825	http://www.orpha.net/ORDO/Orphanet_293825
Fixed drug eruption	Fixed drug eruption	Orphanet	293812	http://www.orpha.net/ORDO/Orphanet_293812
Toxic dermatosis	Toxic dermatosis	Orphanet	293815	http://www.orpha.net/ORDO/Orphanet_293815
Ketamine-induced biliary dilatation	Ketamine-induced biliary dilatation	Orphanet	293807	http://www.orpha.net/ORDO/Orphanet_293807
Blepharophimosis-intellectual disability syndrome, Verloes type	Blepharophimosis-intellectual disability syndrome, Verloes type	Orphanet	293725	http://www.orpha.net/ORDO/Orphanet_293725
Blepharophimosis-intellectual disability syndrome	Blepharophimosis-intellectual disability syndrome	Orphanet	293642	http://www.orpha.net/ORDO/Orphanet_293642
Blepharophimosis-intellectual disability syndrome, MKB type	Blepharophimosis-intellectual disability syndrome, MKB type	Orphanet	293707	http://www.orpha.net/ORDO/Orphanet_293707
PYCR1-related De Barsy syndrome	PYCR1-related De Barsy syndrome	Orphanet	293633	http://www.orpha.net/ORDO/Orphanet_293633
Macrodactyly of fingers	Macrodactyly of fingers	Orphanet	295044	http://www.orpha.net/ORDO/Orphanet_295044
Macrodactyly of toes	Macrodactyly of toes	Orphanet	295047	http://www.orpha.net/ORDO/Orphanet_295047
Upper limb hypertrophy	Upper limb hypertrophy	Orphanet	295049	http://www.orpha.net/ORDO/Orphanet_295049
Lower limb hypertrophy	Lower limb hypertrophy	Orphanet	295051	http://www.orpha.net/ORDO/Orphanet_295051
Congenital pseudoarthrosis of the fibula	Congenital pseudoarthrosis of the fibula	Orphanet	295022	http://www.orpha.net/ORDO/Orphanet_295022
Congenital pseudoarthrosis of the radius	Congenital pseudoarthrosis of the radius	Orphanet	295024	http://www.orpha.net/ORDO/Orphanet_295024
Congenital pseudoarthrosis of the ulna	Congenital pseudoarthrosis of the ulna	Orphanet	295026	http://www.orpha.net/ORDO/Orphanet_295026
Tibio-fibular synostosis	Tibio-fibular synostosis	Orphanet	295028	http://www.orpha.net/ORDO/Orphanet_295028
True congenital shoulder dislocation	True congenital shoulder dislocation	Orphanet	295030	http://www.orpha.net/ORDO/Orphanet_295030
Isolated congenital radial head dislocation	Isolated congenital radial head dislocation	Orphanet	295032	http://www.orpha.net/ORDO/Orphanet_295032
Congenital knee dislocation	Congenital knee dislocation	Orphanet	295034	http://www.orpha.net/ORDO/Orphanet_295034
Congenital patella dislocation	Congenital patella dislocation	Orphanet	295036	http://www.orpha.net/ORDO/Orphanet_295036
Syndactyly type 6	Syndactyly type 6	Orphanet	295012	http://www.orpha.net/ORDO/Orphanet_295012
Congenital pseudoarthrosis of the femur	Congenital pseudoarthrosis of the femur	Orphanet	295020	http://www.orpha.net/ORDO/Orphanet_295020
Congenital pseudoarthrosis of the tibia	Congenital pseudoarthrosis of the tibia	Orphanet	295018	http://www.orpha.net/ORDO/Orphanet_295018
Camptodactyly of fingers	Camptodactyly of fingers	Orphanet	295016	http://www.orpha.net/ORDO/Orphanet_295016
Familial isolated clinodactyly of fingers	Familial isolated clinodactyly of fingers	Orphanet	295014	http://www.orpha.net/ORDO/Orphanet_295014
Central polydactyly	Central polydactyly	Orphanet	295004	http://www.orpha.net/ORDO/Orphanet_295004
Hyperphalangy	Hyperphalangy	Orphanet	295002	http://www.orpha.net/ORDO/Orphanet_295002
Constriction rings syndrome	Constriction rings syndrome	Orphanet	295000	http://www.orpha.net/ORDO/Orphanet_295000
Congenital absence of thigh and lower leg with foot present	Congenital absence of thigh and lower leg with foot present	Orphanet	294977	http://www.orpha.net/ORDO/Orphanet_294977
Congenital absence of both forearm and hand	Congenital absence of both forearm and hand	Orphanet	294979	http://www.orpha.net/ORDO/Orphanet_294979
Humeral agenesis/hypoplasia	Humeral agenesis/hypoplasia	Orphanet	294973	http://www.orpha.net/ORDO/Orphanet_294973
Congenital absence of upper arm and forearm with hand present	Congenital absence of upper arm and forearm with hand present	Orphanet	294975	http://www.orpha.net/ORDO/Orphanet_294975
Apodia	Apodia	Orphanet	294986	http://www.orpha.net/ORDO/Orphanet_294986
Congenital hypoplasia of thumb	Congenital hypoplasia of thumb	Orphanet	294988	http://www.orpha.net/ORDO/Orphanet_294988
Congenital absence of both lower leg and foot	Congenital absence of both lower leg and foot	Orphanet	294981	http://www.orpha.net/ORDO/Orphanet_294981
Acheiria	Acheiria	Orphanet	294983	http://www.orpha.net/ORDO/Orphanet_294983
Popliteal pterygium syndrome	Popliteal pterygium syndrome	Orphanet	294963	http://www.orpha.net/ORDO/Orphanet_294963
Dysostosis with combined reduction defects of upper and lower limbs	Dysostosis with combined reduction defects of upper and lower limbs	Orphanet	294957	http://www.orpha.net/ORDO/Orphanet_294957
Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	Orphanet	294959	http://www.orpha.net/ORDO/Orphanet_294959
Amelia of lower limb	Amelia of lower limb	Orphanet	294969	http://www.orpha.net/ORDO/Orphanet_294969
Tetra-amelia	Tetra-amelia	Orphanet	294971	http://www.orpha.net/ORDO/Orphanet_294971
Lethal congenital contracture syndrome	Lethal congenital contracture syndrome	Orphanet	294965	http://www.orpha.net/ORDO/Orphanet_294965
Amelia of upper limb	Amelia of upper limb	Orphanet	294967	http://www.orpha.net/ORDO/Orphanet_294967
Autoinflammatory syndrome with skin involvement	Autoinflammatory syndrome with skin involvement	Orphanet	290842	http://www.orpha.net/ORDO/Orphanet_290842
Rare head and neck tumor	Rare head and neck tumor	Orphanet	290849	http://www.orpha.net/ORDO/Orphanet_290849
Hypermethioninemia due to glycine N-methyltransferase deficiency	Hypermethioninemia due to glycine N-methyltransferase deficiency	Orphanet	289891	http://www.orpha.net/ORDO/Orphanet_289891
3-methylglutaconic aciduria	3-methylglutaconic aciduria	Orphanet	289902	http://www.orpha.net/ORDO/Orphanet_289902
Organic aciduria	Organic aciduria	Orphanet	289899	http://www.orpha.net/ORDO/Orphanet_289899
Disorder of proline metabolism	Disorder of proline metabolism	Orphanet	289866	http://www.orpha.net/ORDO/Orphanet_289866
Atypical glycine encephalopathy	Atypical glycine encephalopathy	Orphanet	289863	http://www.orpha.net/ORDO/Orphanet_289863
Transient hyperammonemia of the newborn	Transient hyperammonemia of the newborn	Orphanet	289877	http://www.orpha.net/ORDO/Orphanet_289877
Disorder of ornithine metabolism	Disorder of ornithine metabolism	Orphanet	289869	http://www.orpha.net/ORDO/Orphanet_289869
Autoinflammatory syndrome with immune deficiency	Autoinflammatory syndrome with immune deficiency	Orphanet	290839	http://www.orpha.net/ORDO/Orphanet_290839
Systemic disease with skin involvement	Systemic disease with skin involvement	Orphanet	290836	http://www.orpha.net/ORDO/Orphanet_290836
Vitamin B12-unresponsive methylmalonic acidemia type mut0	Vitamin B12-unresponsive methylmalonic acidemia type mut0	Orphanet	289916	http://www.orpha.net/ORDO/Orphanet_289916
Lymphoepithelial-like carcinoma	Lymphoepithelial-like carcinoma	Orphanet	289682	http://www.orpha.net/ORDO/Orphanet_289682
Myopericytoma	Myopericytoma	Orphanet	289685	http://www.orpha.net/ORDO/Orphanet_289685
Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly	Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly	Orphanet	289661	http://www.orpha.net/ORDO/Orphanet_289661
Plasmablastic lymphoma	Plasmablastic lymphoma	Orphanet	289666	http://www.orpha.net/ORDO/Orphanet_289666
Epstein-Barr Virus-associated carcinoma	Epstein-Barr Virus-associated carcinoma	Orphanet	289651	http://www.orpha.net/ORDO/Orphanet_289651
Epstein-Barr Virus-associated mesenchymal tumor	Epstein-Barr Virus-associated mesenchymal tumor	Orphanet	289656	http://www.orpha.net/ORDO/Orphanet_289656
Epstein-Barr Virus-related tumor	Epstein-Barr Virus-related tumor	Orphanet	289638	http://www.orpha.net/ORDO/Orphanet_289638
Epstein-Barr virus-associated malignant lymphoproliferative disorder	Epstein-Barr virus-associated malignant lymphoproliferative disorder	Orphanet	289644	http://www.orpha.net/ORDO/Orphanet_289644
Neonatal glycine encephalopathy	Neonatal glycine encephalopathy	Orphanet	289857	http://www.orpha.net/ORDO/Orphanet_289857
Infantile glycine encephalopathy	Infantile glycine encephalopathy	Orphanet	289860	http://www.orpha.net/ORDO/Orphanet_289860
Glutathione synthetase deficiency with 5-oxoprolinuria	Glutathione synthetase deficiency with 5-oxoprolinuria	Orphanet	289846	http://www.orpha.net/ORDO/Orphanet_289846
Glutathione synthetase deficiency without 5-oxoprolinuria	Glutathione synthetase deficiency without 5-oxoprolinuria	Orphanet	289849	http://www.orpha.net/ORDO/Orphanet_289849
Disorder of lysine and hydroxylysine metabolism	Disorder of lysine and hydroxylysine metabolism	Orphanet	289832	http://www.orpha.net/ORDO/Orphanet_289832
Disorder of glutamine metabolism	Disorder of glutamine metabolism	Orphanet	289841	http://www.orpha.net/ORDO/Orphanet_289841
Late-onset primary lymphedema without systemic or visceral involvement	Late-onset primary lymphedema without systemic or visceral involvement	Orphanet	289825	http://www.orpha.net/ORDO/Orphanet_289825
Disorder of tryptophan metabolism	Disorder of tryptophan metabolism	Orphanet	289829	http://www.orpha.net/ORDO/Orphanet_289829
Multiple mitochondrial dysfunctions syndrome	Multiple mitochondrial dysfunctions syndrome	Orphanet	289573	http://www.orpha.net/ORDO/Orphanet_289573
Mitochondrial membrane protein-associated neurodegeneration	Mitochondrial membrane protein-associated neurodegeneration	Orphanet	289560	http://www.orpha.net/ORDO/Orphanet_289560
Dysmorphism-conductive hearing loss-heart defect syndrome	Dysmorphism-conductive hearing loss-heart defect syndrome	Orphanet	289553	http://www.orpha.net/ORDO/Orphanet_289553
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	Orphanet	289548	http://www.orpha.net/ORDO/Orphanet_289548
BAP1-related tumor predisposition syndrome	BAP1-related tumor predisposition syndrome	Orphanet	289539	http://www.orpha.net/ORDO/Orphanet_289539
Rare virus associated tumor	Rare virus associated tumor	Orphanet	289635	http://www.orpha.net/ORDO/Orphanet_289635
Hereditary arterial and articular multiple calcification syndrome	Hereditary arterial and articular multiple calcification syndrome	Orphanet	289601	http://www.orpha.net/ORDO/Orphanet_289601
Juvenile nasopharyngeal angiofibroma	Juvenile nasopharyngeal angiofibroma	Orphanet	289596	http://www.orpha.net/ORDO/Orphanet_289596
Exfoliative ichthyosis	Exfoliative ichthyosis	Orphanet	289586	http://www.orpha.net/ORDO/Orphanet_289586
Methylmalonic acidemia without homocystinuria	Methylmalonic acidemia without homocystinuria	Orphanet	293355	http://www.orpha.net/ORDO/Orphanet_293355
Grayson-Wilbrandt corneal dystrophy	Grayson-Wilbrandt corneal dystrophy	Orphanet	293375	http://www.orpha.net/ORDO/Orphanet_293375
Epithelial recurrent erosion dystrophy	Epithelial recurrent erosion dystrophy	Orphanet	293381	http://www.orpha.net/ORDO/Orphanet_293381
Pre-Descemet corneal dystrophy	Pre-Descemet corneal dystrophy	Orphanet	293462	http://www.orpha.net/ORDO/Orphanet_293462
Congenital hereditary endothelial dystrophy type II	Congenital hereditary endothelial dystrophy type II	Orphanet	293603	http://www.orpha.net/ORDO/Orphanet_293603
X-linked endothelial corneal dystrophy	X-linked endothelial corneal dystrophy	Orphanet	293621	http://www.orpha.net/ORDO/Orphanet_293621
Shwachman-Diamond syndrome	Shwachman-Diamond syndrome	Orphanet	811	http://www.orpha.net/ORDO/Orphanet_811
Intermittent neutropenia	Intermittent neutropenia	Orphanet	2689	http://www.orpha.net/ORDO/Orphanet_2689
Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome	Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome	Orphanet	2687	http://www.orpha.net/ORDO/Orphanet_2687
NON RARE IN EUROPE: Fibromuscular dysplasia of arteries	NON RARE IN EUROPE: Fibromuscular dysplasia of arteries	Orphanet	336	http://www.orpha.net/ORDO/Orphanet_336
Familial clubfoot due to PITX1 point mutation	Familial clubfoot due to PITX1 point mutation	Orphanet	293150	http://www.orpha.net/ORDO/Orphanet_293150
Familial mitral valve prolapse	Familial mitral valve prolapse	Orphanet	741	http://www.orpha.net/ORDO/Orphanet_741
Familial clubfoot due to 5q31 microdeletion	Familial clubfoot due to 5q31 microdeletion	Orphanet	293144	http://www.orpha.net/ORDO/Orphanet_293144
Infantile-onset ascending hereditary spastic paralysis	Infantile-onset ascending hereditary spastic paralysis	Orphanet	293168	http://www.orpha.net/ORDO/Orphanet_293168
Skin fragility-woolly hair-palmoplantar keratoderma syndrome	Skin fragility-woolly hair-palmoplantar keratoderma syndrome	Orphanet	293165	http://www.orpha.net/ORDO/Orphanet_293165
Autosomal dominant hypocalcemia	Autosomal dominant hypocalcemia	Orphanet	428	http://www.orpha.net/ORDO/Orphanet_428
Malignant migrating focal seizures of infancy	Malignant migrating focal seizures of infancy	Orphanet	293181	http://www.orpha.net/ORDO/Orphanet_293181
Insulin-resistance syndrome type B	Insulin-resistance syndrome type B	Orphanet	2298	http://www.orpha.net/ORDO/Orphanet_2298
Familial primary hyperparathyroidism	Familial primary hyperparathyroidism	Orphanet	2207	http://www.orpha.net/ORDO/Orphanet_2207
Acute generalized exanthematous pustulosis	Acute generalized exanthematous pustulosis	Orphanet	293173	http://www.orpha.net/ORDO/Orphanet_293173
Pleomorphic rhabdomyosarcoma	Pleomorphic rhabdomyosarcoma	Orphanet	293199	http://www.orpha.net/ORDO/Orphanet_293199
46,XX testicular disorder of sex development	46,XX testicular disorder of sex development	Orphanet	393	http://www.orpha.net/ORDO/Orphanet_393
Epithelioid sarcoma	Epithelioid sarcoma	Orphanet	293202	http://www.orpha.net/ORDO/Orphanet_293202
Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria	Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria	Orphanet	293284	http://www.orpha.net/ORDO/Orphanet_293284
Celiac artery compression syndrome	Celiac artery compression syndrome	Orphanet	293208	http://www.orpha.net/ORDO/Orphanet_293208
Mansonelliasis	Mansonelliasis	Orphanet	2459	http://www.orpha.net/ORDO/Orphanet_2459
Loiasis	Loiasis	Orphanet	2404	http://www.orpha.net/ORDO/Orphanet_2404
Pyruvate dehydrogenase E3 deficiency	Pyruvate dehydrogenase E3 deficiency	Orphanet	2394	http://www.orpha.net/ORDO/Orphanet_2394
Arachnoid cyst	Arachnoid cyst	Orphanet	2356	http://www.orpha.net/ORDO/Orphanet_2356
Adult-onset Still disease	Adult-onset Still disease	Orphanet	829	http://www.orpha.net/ORDO/Orphanet_829
Reye syndrome	Reye syndrome	Orphanet	3096	http://www.orpha.net/ORDO/Orphanet_3096
Rasmussen subacute encephalitis	Rasmussen subacute encephalitis	Orphanet	1929	http://www.orpha.net/ORDO/Orphanet_1929
Opsoclonus-myoclonus syndrome	Opsoclonus-myoclonus syndrome	Orphanet	1183	http://www.orpha.net/ORDO/Orphanet_1183
Adult idiopathic neutropenia	Adult idiopathic neutropenia	Orphanet	2688	http://www.orpha.net/ORDO/Orphanet_2688
Cyclic neutropenia	Cyclic neutropenia	Orphanet	2686	http://www.orpha.net/ORDO/Orphanet_2686
Hepatic veno-occlusive disease	Hepatic veno-occlusive disease	Orphanet	890	http://www.orpha.net/ORDO/Orphanet_890
Non-rhizomelic chondrodysplasia punctata	Non-rhizomelic chondrodysplasia punctata	Orphanet	176	http://www.orpha.net/ORDO/Orphanet_176
Dracunculiasis	Dracunculiasis	Orphanet	231	http://www.orpha.net/ORDO/Orphanet_231
Lymphatic filariasis	Lymphatic filariasis	Orphanet	2035	http://www.orpha.net/ORDO/Orphanet_2035
NON RARE IN EUROPE: Antiphospholipid syndrome	NON RARE IN EUROPE: Antiphospholipid syndrome	Orphanet	80	http://www.orpha.net/ORDO/Orphanet_80
Disorder of folate metabolism and transport	Disorder of folate metabolism and transport	Orphanet	285657	http://www.orpha.net/ORDO/Orphanet_285657
Qualitative or quantitative defects of troponin	Qualitative or quantitative defects of troponin	Orphanet	284786	http://www.orpha.net/ORDO/Orphanet_284786
Qualitative or quantitative defects of tropomyosin	Qualitative or quantitative defects of tropomyosin	Orphanet	284790	http://www.orpha.net/ORDO/Orphanet_284790
Ocular albinism	Ocular albinism	Orphanet	284804	http://www.orpha.net/ORDO/Orphanet_284804
CLIPPERS	CLIPPERS	Orphanet	284448	http://www.orpha.net/ORDO/Orphanet_284448
Acute zonal occult outer retinopathy	Acute zonal occult outer retinopathy	Orphanet	284454	http://www.orpha.net/ORDO/Orphanet_284454
Acute annular outer retinopathy	Acute annular outer retinopathy	Orphanet	284460	http://www.orpha.net/ORDO/Orphanet_284460
Glycerol kinase deficiency, adult form	Glycerol kinase deficiency, adult form	Orphanet	284414	http://www.orpha.net/ORDO/Orphanet_284414
Phosphoserine aminotransferase deficiency, infantile/juvenile form	Phosphoserine aminotransferase deficiency, infantile/juvenile form	Orphanet	284417	http://www.orpha.net/ORDO/Orphanet_284417
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	Orphanet	284426	http://www.orpha.net/ORDO/Orphanet_284426
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	Orphanet	284435	http://www.orpha.net/ORDO/Orphanet_284435
Rare disease with thoracic aortic aneurysm and aortic dissection	Rare disease with thoracic aortic aneurysm and aortic dissection	Orphanet	285014	http://www.orpha.net/ORDO/Orphanet_285014
Marfan and Marfan-related disorders	Marfan and Marfan-related disorders	Orphanet	284993	http://www.orpha.net/ORDO/Orphanet_284993
Marfan syndrome type 2	Marfan syndrome type 2	Orphanet	284973	http://www.orpha.net/ORDO/Orphanet_284973
Marfan syndrome type 1	Marfan syndrome type 1	Orphanet	284963	http://www.orpha.net/ORDO/Orphanet_284963
Aneurysm-osteoarthritis syndrome	Aneurysm-osteoarthritis syndrome	Orphanet	284984	http://www.orpha.net/ORDO/Orphanet_284984
Neonatal Marfan syndrome	Neonatal Marfan syndrome	Orphanet	284979	http://www.orpha.net/ORDO/Orphanet_284979
Disorder of phenylalanine metabolism	Disorder of phenylalanine metabolism	Orphanet	284814	http://www.orpha.net/ORDO/Orphanet_284814
Syndromic oculocutaneous albinism	Syndromic oculocutaneous albinism	Orphanet	284811	http://www.orpha.net/ORDO/Orphanet_284811
Disorder of tyrosine metabolism	Disorder of tyrosine metabolism	Orphanet	284818	http://www.orpha.net/ORDO/Orphanet_284818
Non-central nervous system-localized embryonal carcinoma	Non-central nervous system-localized embryonal carcinoma	Orphanet	289362	http://www.orpha.net/ORDO/Orphanet_289362
Familial vesicoureteral reflux	Familial vesicoureteral reflux	Orphanet	289365	http://www.orpha.net/ORDO/Orphanet_289365
Infective dermatitis associated with HTLV-1	Infective dermatitis associated with HTLV-1	Orphanet	289347	http://www.orpha.net/ORDO/Orphanet_289347
Primary non-gestational choriocarcinoma of ovary	Primary non-gestational choriocarcinoma of ovary	Orphanet	289356	http://www.orpha.net/ORDO/Orphanet_289356
Early-onset myopathy with fatal cardiomyopathy	Early-onset myopathy with fatal cardiomyopathy	Orphanet	289377	http://www.orpha.net/ORDO/Orphanet_289377
Myosclerosis	Myosclerosis	Orphanet	289380	http://www.orpha.net/ORDO/Orphanet_289380
Hypermethioninemia encephalopathy due to adenosine kinase deficiency	Hypermethioninemia encephalopathy due to adenosine kinase deficiency	Orphanet	289290	http://www.orpha.net/ORDO/Orphanet_289290
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	Orphanet	289266	http://www.orpha.net/ORDO/Orphanet_289266
Tropical spastic paraparesis	Tropical spastic paraparesis	Orphanet	289326	http://www.orpha.net/ORDO/Orphanet_289326
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency	Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency	Orphanet	289307	http://www.orpha.net/ORDO/Orphanet_289307
Combined malonic and methylmalonic acidemia	Combined malonic and methylmalonic acidemia	Orphanet	289504	http://www.orpha.net/ORDO/Orphanet_289504
Congenital cataract microcornea with corneal opacity	Congenital cataract microcornea with corneal opacity	Orphanet	289499	http://www.orpha.net/ORDO/Orphanet_289499
4H leukodystrophy	4H leukodystrophy	Orphanet	289494	http://www.orpha.net/ORDO/Orphanet_289494
Microtriplication 11q24.1	Microtriplication 11q24.1	Orphanet	289522	http://www.orpha.net/ORDO/Orphanet_289522
12q15q21.1 microdeletion syndrome	12q15q21.1 microdeletion syndrome	Orphanet	289513	http://www.orpha.net/ORDO/Orphanet_289513
Isolated congenital adermatoglyphia	Isolated congenital adermatoglyphia	Orphanet	289465	http://www.orpha.net/ORDO/Orphanet_289465
NON RARE IN EUROPE: Secondary Sjögren syndrome	NON RARE IN EUROPE: Secondary Sjögren syndrome	Orphanet	289395	http://www.orpha.net/ORDO/Orphanet_289395
Primary Sjögren syndrome	Primary Sjögren syndrome	Orphanet	289390	http://www.orpha.net/ORDO/Orphanet_289390
Malignancy diagnosed during pregnancy	Malignancy diagnosed during pregnancy	Orphanet	289385	http://www.orpha.net/ORDO/Orphanet_289385
Intellectual disability-alacrima-achalasia syndrome	Intellectual disability-alacrima-achalasia syndrome	Orphanet	289483	http://www.orpha.net/ORDO/Orphanet_289483
Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome	Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome	Orphanet	289478	http://www.orpha.net/ORDO/Orphanet_289478
Hypocalcemic rickets	Hypocalcemic rickets	Orphanet	289103	http://www.orpha.net/ORDO/Orphanet_289103
Disorders of vitamin D metabolism	Disorders of vitamin D metabolism	Orphanet	289098	http://www.orpha.net/ORDO/Orphanet_289098
Autosomal recessive hypophosphatemic rickets	Autosomal recessive hypophosphatemic rickets	Orphanet	289176	http://www.orpha.net/ORDO/Orphanet_289176
Hypocalcemic vitamin D-dependent rickets	Hypocalcemic vitamin D-dependent rickets	Orphanet	289157	http://www.orpha.net/ORDO/Orphanet_289157
Systemic diseases with anterior uveitis	Systemic diseases with anterior uveitis	Orphanet	280926	http://www.orpha.net/ORDO/Orphanet_280926
Idiopathic panuveitis	Idiopathic panuveitis	Orphanet	280921	http://www.orpha.net/ORDO/Orphanet_280921
Idiopathic posterior uveitis	Idiopathic posterior uveitis	Orphanet	280917	http://www.orpha.net/ORDO/Orphanet_280917
Idiopathic anterior uveitis	Idiopathic anterior uveitis	Orphanet	280914	http://www.orpha.net/ORDO/Orphanet_280914
Panuveitis	Panuveitis	Orphanet	280898	http://www.orpha.net/ORDO/Orphanet_280898
Posterior uveitis	Posterior uveitis	Orphanet	280892	http://www.orpha.net/ORDO/Orphanet_280892
Anterior uveitis	Anterior uveitis	Orphanet	280886	http://www.orpha.net/ORDO/Orphanet_280886
Keratinopathic ichthyosis	Keratinopathic ichthyosis	Orphanet	281103	http://www.orpha.net/ORDO/Orphanet_281103
Autosomal recessive congenital ichthyosis	Autosomal recessive congenital ichthyosis	Orphanet	281097	http://www.orpha.net/ORDO/Orphanet_281097
Syndromic recessive X-linked ichthyosis	Syndromic recessive X-linked ichthyosis	Orphanet	281090	http://www.orpha.net/ORDO/Orphanet_281090
Inherited ichthyosis syndromic form	Inherited ichthyosis syndromic form	Orphanet	281085	http://www.orpha.net/ORDO/Orphanet_281085
Inherited non-syndromic ichthyosis	Inherited non-syndromic ichthyosis	Orphanet	281082	http://www.orpha.net/ORDO/Orphanet_281082
Systemic diseases with panuveitis	Systemic diseases with panuveitis	Orphanet	280933	http://www.orpha.net/ORDO/Orphanet_280933
Systemic diseases with posterior uveitis	Systemic diseases with posterior uveitis	Orphanet	280930	http://www.orpha.net/ORDO/Orphanet_280930
X-linked ichthyosis syndrome	X-linked ichthyosis syndrome	Orphanet	281210	http://www.orpha.net/ORDO/Orphanet_281210
Autosomal ichthyosis syndrome	Autosomal ichthyosis syndrome	Orphanet	281217	http://www.orpha.net/ORDO/Orphanet_281217
Congenital reticular ichthyosiform erythroderma	Congenital reticular ichthyosiform erythroderma	Orphanet	281190	http://www.orpha.net/ORDO/Orphanet_281190
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome	Orphanet	281201	http://www.orpha.net/ORDO/Orphanet_281201
Annular epidermolytic ichthyosis	Annular epidermolytic ichthyosis	Orphanet	281139	http://www.orpha.net/ORDO/Orphanet_281139
Self-improving collodion baby	Self-improving collodion baby	Orphanet	281122	http://www.orpha.net/ORDO/Orphanet_281122
Acral self-healing collodion baby	Acral self-healing collodion baby	Orphanet	281127	http://www.orpha.net/ORDO/Orphanet_281127
Autosomal ichthyosis syndrome with other associated signs	Autosomal ichthyosis syndrome with other associated signs	Orphanet	281244	http://www.orpha.net/ORDO/Orphanet_281244
Autosomal ichthyosis syndrome with prominent neurologic signs	Autosomal ichthyosis syndrome with prominent neurologic signs	Orphanet	281238	http://www.orpha.net/ORDO/Orphanet_281238
Autosomal ichthyosis syndrome with fatal disease course	Autosomal ichthyosis syndrome with fatal disease course	Orphanet	281241	http://www.orpha.net/ORDO/Orphanet_281241
Autosomal ichthyosis syndrome with prominent hair abnormalities	Autosomal ichthyosis syndrome with prominent hair abnormalities	Orphanet	281222	http://www.orpha.net/ORDO/Orphanet_281222
Familial progressive hyper- and hypopigmentation	Familial progressive hyper- and hypopigmentation	Orphanet	280628	http://www.orpha.net/ORDO/Orphanet_280628
Multiple congenital anomalies-hypotonia-seizures syndrome	Multiple congenital anomalies-hypotonia-seizures syndrome	Orphanet	280633	http://www.orpha.net/ORDO/Orphanet_280633
Hemoglobinopathy Toms River	Hemoglobinopathy Toms River	Orphanet	280615	http://www.orpha.net/ORDO/Orphanet_280615
Hereditary sensorimotor neuropathy with hyperelastic skin	Hereditary sensorimotor neuropathy with hyperelastic skin	Orphanet	280598	http://www.orpha.net/ORDO/Orphanet_280598
Progressive myoclonic epilepsy type 6	Progressive myoclonic epilepsy type 6	Orphanet	280620	http://www.orpha.net/ORDO/Orphanet_280620
Hermansky-Pudlak syndrome type 9	Hermansky-Pudlak syndrome type 9	Orphanet	280663	http://www.orpha.net/ORDO/Orphanet_280663
Megaconial congenital muscular dystrophy	Megaconial congenital muscular dystrophy	Orphanet	280671	http://www.orpha.net/ORDO/Orphanet_280671
Occipital pachygyria and polymicrogyria	Occipital pachygyria and polymicrogyria	Orphanet	280640	http://www.orpha.net/ORDO/Orphanet_280640
Autosomal recessive nail dysplasia	Autosomal recessive nail dysplasia	Orphanet	280654	http://www.orpha.net/ORDO/Orphanet_280654
Acrodysostosis with multiple hormone resistance	Acrodysostosis with multiple hormone resistance	Orphanet	280651	http://www.orpha.net/ORDO/Orphanet_280651
Cutaneous collagenous vasculopathy	Cutaneous collagenous vasculopathy	Orphanet	280779	http://www.orpha.net/ORDO/Orphanet_280779
Bullous diffuse cutaneous mastocytosis	Bullous diffuse cutaneous mastocytosis	Orphanet	280785	http://www.orpha.net/ORDO/Orphanet_280785
Pseudoxanthomatous diffuse cutaneous mastocytosis	Pseudoxanthomatous diffuse cutaneous mastocytosis	Orphanet	280794	http://www.orpha.net/ORDO/Orphanet_280794
Intralobar congenital pulmonary sequestration	Intralobar congenital pulmonary sequestration	Orphanet	280802	http://www.orpha.net/ORDO/Orphanet_280802
Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	Orphanet	280679	http://www.orpha.net/ORDO/Orphanet_280679
Severe intellectual disability and progressive spastic paraplegia	Severe intellectual disability and progressive spastic paraplegia	Orphanet	280763	http://www.orpha.net/ORDO/Orphanet_280763
Generalized essential telangiectasia	Generalized essential telangiectasia	Orphanet	280774	http://www.orpha.net/ORDO/Orphanet_280774
Congenital pulmonary airway malformation type 2	Congenital pulmonary airway malformation type 2	Orphanet	280840	http://www.orpha.net/ORDO/Orphanet_280840
Congenital pulmonary airway malformation type 3	Congenital pulmonary airway malformation type 3	Orphanet	280847	http://www.orpha.net/ORDO/Orphanet_280847
Congenital pulmonary airway malformation type 4	Congenital pulmonary airway malformation type 4	Orphanet	280854	http://www.orpha.net/ORDO/Orphanet_280854
Extralobar congenital pulmonary sequestration	Extralobar congenital pulmonary sequestration	Orphanet	280811	http://www.orpha.net/ORDO/Orphanet_280811
Communicating congenital bronchopulmonary-foregut malformation	Communicating congenital bronchopulmonary-foregut malformation	Orphanet	280821	http://www.orpha.net/ORDO/Orphanet_280821
Congenital pulmonary airway malformation type 0	Congenital pulmonary airway malformation type 0	Orphanet	280827	http://www.orpha.net/ORDO/Orphanet_280827
Congenital pulmonary airway malformation type 1	Congenital pulmonary airway malformation type 1	Orphanet	280832	http://www.orpha.net/ORDO/Orphanet_280832
Craniosynostosis-dental anomalies	Craniosynostosis-dental anomalies	Orphanet	284149	http://www.orpha.net/ORDO/Orphanet_284149
Larsen-like syndrome, B3GAT3 type	Larsen-like syndrome, B3GAT3 type	Orphanet	284139	http://www.orpha.net/ORDO/Orphanet_284139
Xp22.13p22.2 duplication syndrome	Xp22.13p22.2 duplication syndrome	Orphanet	284180	http://www.orpha.net/ORDO/Orphanet_284180
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	Orphanet	284169	http://www.orpha.net/ORDO/Orphanet_284169
8q21.11 microdeletion syndrome	8q21.11 microdeletion syndrome	Orphanet	284160	http://www.orpha.net/ORDO/Orphanet_284160
Familial retinal arterial macroaneurysm	Familial retinal arterial macroaneurysm	Orphanet	284247	http://www.orpha.net/ORDO/Orphanet_284247
Autosomal dominant Charcot-Marie-Tooth disease type 2O	Autosomal dominant Charcot-Marie-Tooth disease type 2O	Orphanet	284232	http://www.orpha.net/ORDO/Orphanet_284232
TEMPI syndrome	TEMPI syndrome	Orphanet	284227	http://www.orpha.net/ORDO/Orphanet_284227
Autosomal recessive cerebellar ataxia-psychomotor delay syndrome	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome	Orphanet	284271	http://www.orpha.net/ORDO/Orphanet_284271
IgG4-related disease	IgG4-related disease	Orphanet	284264	http://www.orpha.net/ORDO/Orphanet_284264
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	Orphanet	284324	http://www.orpha.net/ORDO/Orphanet_284324
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency	Orphanet	284282	http://www.orpha.net/ORDO/Orphanet_284282
Adult-onset autosomal recessive cerebellar ataxia	Adult-onset autosomal recessive cerebellar ataxia	Orphanet	284289	http://www.orpha.net/ORDO/Orphanet_284289
Pleuropulmonary blastoma familial tumor susceptibility syndrome	Pleuropulmonary blastoma familial tumor susceptibility syndrome	Orphanet	284343	http://www.orpha.net/ORDO/Orphanet_284343
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia	Orphanet	284332	http://www.orpha.net/ORDO/Orphanet_284332
Pontocerebellar hypoplasia type 7	Pontocerebellar hypoplasia type 7	Orphanet	284339	http://www.orpha.net/ORDO/Orphanet_284339
Familial intrahepatic cholestasis	Familial intrahepatic cholestasis	Orphanet	284385	http://www.orpha.net/ORDO/Orphanet_284385
Reversible cerebral vasoconstriction syndrome	Reversible cerebral vasoconstriction syndrome	Orphanet	284388	http://www.orpha.net/ORDO/Orphanet_284388
Fetal lung interstitial tumor	Fetal lung interstitial tumor	Orphanet	284362	http://www.orpha.net/ORDO/Orphanet_284362
Glycerol kinase deficiency, infantile form	Glycerol kinase deficiency, infantile form	Orphanet	284408	http://www.orpha.net/ORDO/Orphanet_284408
Glycerol kinase deficiency, juvenile form	Glycerol kinase deficiency, juvenile form	Orphanet	284411	http://www.orpha.net/ORDO/Orphanet_284411
Well-differentiated fetal adenocarcinoma of the lung	Well-differentiated fetal adenocarcinoma of the lung	Orphanet	284395	http://www.orpha.net/ORDO/Orphanet_284395
Small cell carcinoma of the bladder	Small cell carcinoma of the bladder	Orphanet	284400	http://www.orpha.net/ORDO/Orphanet_284400
Partial deletion of chromosome 12	Partial deletion of chromosome 12	Orphanet	282124	http://www.orpha.net/ORDO/Orphanet_282124
Autoimmune polyendocrinopathy	Autoimmune polyendocrinopathy	Orphanet	282196	http://www.orpha.net/ORDO/Orphanet_282196
Inherited Creutzfeldt-Jakob disease	Inherited Creutzfeldt-Jakob disease	Orphanet	282166	http://www.orpha.net/ORDO/Orphanet_282166
NON RARE IN EUROPE: Rheumatoid arthritis	NON RARE IN EUROPE: Rheumatoid arthritis	Orphanet	284130	http://www.orpha.net/ORDO/Orphanet_284130
Disorder of magnesium transport	Disorder of magnesium transport	Orphanet	309848	http://www.orpha.net/ORDO/Orphanet_309848
Disorder of zinc metabolism and transport	Disorder of zinc metabolism and transport	Orphanet	309845	http://www.orpha.net/ORDO/Orphanet_309845
Disorder of iron metabolism and transport	Disorder of iron metabolism and transport	Orphanet	309842	http://www.orpha.net/ORDO/Orphanet_309842
Disorder of copper metabolism	Disorder of copper metabolism	Orphanet	309839	http://www.orpha.net/ORDO/Orphanet_309839
Acquired immunodeficiency	Acquired immunodeficiency	Orphanet	310050	http://www.orpha.net/ORDO/Orphanet_310050
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	Orphanet	309854	http://www.orpha.net/ORDO/Orphanet_309854
Disorder of manganese transport	Disorder of manganese transport	Orphanet	309851	http://www.orpha.net/ORDO/Orphanet_309851
Disorder of metabolite absorption and transport	Disorder of metabolite absorption and transport	Orphanet	309824	http://www.orpha.net/ORDO/Orphanet_309824
Disorder of pterin metabolism	Disorder of pterin metabolism	Orphanet	309819	http://www.orpha.net/ORDO/Orphanet_309819
Disorder of bilirubin metabolism and excretion	Disorder of bilirubin metabolism and excretion	Orphanet	309816	http://www.orpha.net/ORDO/Orphanet_309816
Disorder of porphyrin and heme metabolism	Disorder of porphyrin and heme metabolism	Orphanet	309813	http://www.orpha.net/ORDO/Orphanet_309813
Disorder of mineral absorption and transport	Disorder of mineral absorption and transport	Orphanet	309836	http://www.orpha.net/ORDO/Orphanet_309836
Disorder of other vitamins and cofactors metabolism and transport	Disorder of other vitamins and cofactors metabolism and transport	Orphanet	309833	http://www.orpha.net/ORDO/Orphanet_309833
Disorder of catecholamine synthesis	Disorder of catecholamine synthesis	Orphanet	309830	http://www.orpha.net/ORDO/Orphanet_309830
Disorder of vitamin and non-protein cofactor absorption and transport	Disorder of vitamin and non-protein cofactor absorption and transport	Orphanet	309827	http://www.orpha.net/ORDO/Orphanet_309827
Defect in conserved oligomeric Golgi complex	Defect in conserved oligomeric Golgi complex	Orphanet	309568	http://www.orpha.net/ORDO/Orphanet_309568
Defect in V-ATPase	Defect in V-ATPase	Orphanet	309778	http://www.orpha.net/ORDO/Orphanet_309778
Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation	Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation	Orphanet	309515	http://www.orpha.net/ORDO/Orphanet_309515
Disorder of multiple glycosylation	Disorder of multiple glycosylation	Orphanet	309526	http://www.orpha.net/ORDO/Orphanet_309526
Rhizomelic chondrodysplasia punctata type 3	Rhizomelic chondrodysplasia punctata type 3	Orphanet	309803	http://www.orpha.net/ORDO/Orphanet_309803
Disorder of peroxisomal alpha-, beta- and omega-oxidation	Disorder of peroxisomal alpha-, beta- and omega-oxidation	Orphanet	309810	http://www.orpha.net/ORDO/Orphanet_309810
Rhizomelic chondrodysplasia punctata type 1	Rhizomelic chondrodysplasia punctata type 1	Orphanet	309789	http://www.orpha.net/ORDO/Orphanet_309789
Rhizomelic chondrodysplasia punctata type 2	Rhizomelic chondrodysplasia punctata type 2	Orphanet	309796	http://www.orpha.net/ORDO/Orphanet_309796
Disorder of protein O-glycosylation	Disorder of protein O-glycosylation	Orphanet	309447	http://www.orpha.net/ORDO/Orphanet_309447
Disorder of O-xylosylglycan synthesis	Disorder of O-xylosylglycan synthesis	Orphanet	309450	http://www.orpha.net/ORDO/Orphanet_309450
Disorder of lysosomal-related organelles	Disorder of lysosomal-related organelles	Orphanet	309340	http://www.orpha.net/ORDO/Orphanet_309340
Disorder of protein N-glycosylation	Disorder of protein N-glycosylation	Orphanet	309347	http://www.orpha.net/ORDO/Orphanet_309347
Disorder of O-mannosylglycan synthesis	Disorder of O-mannosylglycan synthesis	Orphanet	309469	http://www.orpha.net/ORDO/Orphanet_309469
Disorder of fucoglycosan synthesis	Disorder of fucoglycosan synthesis	Orphanet	309505	http://www.orpha.net/ORDO/Orphanet_309505
Disorder of O-N-acetylgalactosaminylglycan synthesis	Disorder of O-N-acetylgalactosaminylglycan synthesis	Orphanet	309458	http://www.orpha.net/ORDO/Orphanet_309458
Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis	Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis	Orphanet	309463	http://www.orpha.net/ORDO/Orphanet_309463
High bone mass osteogenesis imperfecta	High bone mass osteogenesis imperfecta	Orphanet	314029	http://www.orpha.net/ORDO/Orphanet_314029
Gastric adenocarcinoma and proximal polyposis of the stomach	Gastric adenocarcinoma and proximal polyposis of the stomach	Orphanet	314022	http://www.orpha.net/ORDO/Orphanet_314022
Idiopathic linear interstitial keratitis	Idiopathic linear interstitial keratitis	Orphanet	314017	http://www.orpha.net/ORDO/Orphanet_314017
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome	Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome	Orphanet	314002	http://www.orpha.net/ORDO/Orphanet_314002
2q23.1 microduplication syndrome	2q23.1 microduplication syndrome	Orphanet	313947	http://www.orpha.net/ORDO/Orphanet_313947
PENS syndrome	PENS syndrome	Orphanet	313936	http://www.orpha.net/ORDO/Orphanet_313936
Epstein-Barr virus-associated gastric carcinoma	Epstein-Barr virus-associated gastric carcinoma	Orphanet	313920	http://www.orpha.net/ORDO/Orphanet_313920
Congenital pancreatic cyst	Congenital pancreatic cyst	Orphanet	313906	http://www.orpha.net/ORDO/Orphanet_313906
Developmental and speech delay due to SOX5 deficiency	Developmental and speech delay due to SOX5 deficiency	Orphanet	313892	http://www.orpha.net/ORDO/Orphanet_313892
12p12.1 microdeletion syndrome	12p12.1 microdeletion syndrome	Orphanet	313884	http://www.orpha.net/ORDO/Orphanet_313884
FGFR2-related bent bone dysplasia	FGFR2-related bent bone dysplasia	Orphanet	313855	http://www.orpha.net/ORDO/Orphanet_313855
Infantile cerebellar-retinal degeneration	Infantile cerebellar-retinal degeneration	Orphanet	313850	http://www.orpha.net/ORDO/Orphanet_313850
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome	Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome	Orphanet	313846	http://www.orpha.net/ORDO/Orphanet_313846
Coats plus syndrome	Coats plus syndrome	Orphanet	313838	http://www.orpha.net/ORDO/Orphanet_313838
Optic nerve edema-splenomegaly syndrome	Optic nerve edema-splenomegaly syndrome	Orphanet	313800	http://www.orpha.net/ORDO/Orphanet_313800
Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia	Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia	Orphanet	313808	http://www.orpha.net/ORDO/Orphanet_313808
20p13 microdeletion syndrome	20p13 microdeletion syndrome	Orphanet	313781	http://www.orpha.net/ORDO/Orphanet_313781
Jawad syndrome	Jawad syndrome	Orphanet	313795	http://www.orpha.net/ORDO/Orphanet_313795
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	Orphanet	313772	http://www.orpha.net/ORDO/Orphanet_313772
Autosomal recessive spastic ataxia with leukoencephalopathy	Autosomal recessive spastic ataxia with leukoencephalopathy	Orphanet	314603	http://www.orpha.net/ORDO/Orphanet_314603
Chudley-McCullough syndrome	Chudley-McCullough syndrome	Orphanet	314597	http://www.orpha.net/ORDO/Orphanet_314597
Growing teratoma syndrome	Growing teratoma syndrome	Orphanet	314613	http://www.orpha.net/ORDO/Orphanet_314613
Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome	Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome	Orphanet	314575	http://www.orpha.net/ORDO/Orphanet_314575
Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome	Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome	Orphanet	314572	http://www.orpha.net/ORDO/Orphanet_314572
Distal tetrasomy 15q	Distal tetrasomy 15q	Orphanet	314588	http://www.orpha.net/ORDO/Orphanet_314588
15q overgrowth syndrome	15q overgrowth syndrome	Orphanet	314585	http://www.orpha.net/ORDO/Orphanet_314585
Young adult-onset distal hereditary motor neuropathy	Young adult-onset distal hereditary motor neuropathy	Orphanet	314485	http://www.orpha.net/ORDO/Orphanet_314485
Primary progressive apraxia of speech	Primary progressive apraxia of speech	Orphanet	314566	http://www.orpha.net/ORDO/Orphanet_314566
Craniofacial dysplasia-osteopenia syndrome	Craniofacial dysplasia-osteopenia syndrome	Orphanet	314555	http://www.orpha.net/ORDO/Orphanet_314555
Atypical Meigs syndrome	Atypical Meigs syndrome	Orphanet	314466	http://www.orpha.net/ORDO/Orphanet_314466
Pseudo-Meigs syndrome	Pseudo-Meigs syndrome	Orphanet	314459	http://www.orpha.net/ORDO/Orphanet_314459
Ovarian fibrothecoma	Ovarian fibrothecoma	Orphanet	314478	http://www.orpha.net/ORDO/Orphanet_314478
Ovarian fibroma	Ovarian fibroma	Orphanet	314473	http://www.orpha.net/ORDO/Orphanet_314473
Ameloblastic carcinoma	Ameloblastic carcinoma	Orphanet	314422	http://www.orpha.net/ORDO/Orphanet_314422
Rare odontogenic tumor	Rare odontogenic tumor	Orphanet	314425	http://www.orpha.net/ORDO/Orphanet_314425
Spigelian hernia-cryptorchidism syndrome	Spigelian hernia-cryptorchidism syndrome	Orphanet	314432	http://www.orpha.net/ORDO/Orphanet_314432
Meigs syndrome	Meigs syndrome	Orphanet	314451	http://www.orpha.net/ORDO/Orphanet_314451
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	Orphanet	314394	http://www.orpha.net/ORDO/Orphanet_314394
Autosomal dominant aplasia and myelodysplasia	Autosomal dominant aplasia and myelodysplasia	Orphanet	314399	http://www.orpha.net/ORDO/Orphanet_314399
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	Orphanet	314404	http://www.orpha.net/ORDO/Orphanet_314404
Ameloblastoma	Ameloblastoma	Orphanet	314419	http://www.orpha.net/ORDO/Orphanet_314419
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity	Chronic infantile diarrhea due to guanylate cyclase 2C overactivity	Orphanet	314373	http://www.orpha.net/ORDO/Orphanet_314373
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency	Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency	Orphanet	314376	http://www.orpha.net/ORDO/Orphanet_314376
Hereditary sensory and autonomic neuropathy type 6	Hereditary sensory and autonomic neuropathy type 6	Orphanet	314381	http://www.orpha.net/ORDO/Orphanet_314381
Xq12-q13.3 duplication syndrome	Xq12-q13.3 duplication syndrome	Orphanet	314389	http://www.orpha.net/ORDO/Orphanet_314389
7p22.1 microduplication syndrome	7p22.1 microduplication syndrome	Orphanet	314034	http://www.orpha.net/ORDO/Orphanet_314034
Marfanoid habitus-inguinal hernia-advanced bone age syndrome	Marfanoid habitus-inguinal hernia-advanced bone age syndrome	Orphanet	314041	http://www.orpha.net/ORDO/Orphanet_314041
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Orphanet	314051	http://www.orpha.net/ORDO/Orphanet_314051
Epilepsy and/or ataxia with myoclonus as a major feature	Epilepsy and/or ataxia with myoclonus as a major feature	Orphanet	306756	http://www.orpha.net/ORDO/Orphanet_306756
Non progressive epilepsy and/or ataxia with myoclonus as a major feature	Non progressive epilepsy and/or ataxia with myoclonus as a major feature	Orphanet	306759	http://www.orpha.net/ORDO/Orphanet_306759
Primary myoclonus	Primary myoclonus	Orphanet	306750	http://www.orpha.net/ORDO/Orphanet_306750
Rare disease with myoclonus as a major feature	Rare disease with myoclonus as a major feature	Orphanet	306753	http://www.orpha.net/ORDO/Orphanet_306753
Rare paroxysmal movement disorder	Rare paroxysmal movement disorder	Orphanet	306768	http://www.orpha.net/ORDO/Orphanet_306768
Hyperekplexia	Hyperekplexia	Orphanet	306773	http://www.orpha.net/ORDO/Orphanet_306773
Motor stereotypies	Motor stereotypies	Orphanet	306765	http://www.orpha.net/ORDO/Orphanet_306765
Rare parkinsonian syndrome due to genetic neurodegenerative disease	Rare parkinsonian syndrome due to genetic neurodegenerative disease	Orphanet	307055	http://www.orpha.net/ORDO/Orphanet_307055
Miscellaneous movement disorder due to genetic neurodegenerative disease	Miscellaneous movement disorder due to genetic neurodegenerative disease	Orphanet	307058	http://www.orpha.net/ORDO/Orphanet_307058
Sporadic hyperekplexia	Sporadic hyperekplexia	Orphanet	306776	http://www.orpha.net/ORDO/Orphanet_306776
Rare genetic parkinsonian disorder	Rare genetic parkinsonian disorder	Orphanet	307052	http://www.orpha.net/ORDO/Orphanet_307052
Rare genetic disease with myoclonus as a major feature	Rare genetic disease with myoclonus as a major feature	Orphanet	307067	http://www.orpha.net/ORDO/Orphanet_307067
Diffuse palmoplantar keratoderma	Diffuse palmoplantar keratoderma	Orphanet	307141	http://www.orpha.net/ORDO/Orphanet_307141
Rare genetic tremor disorder	Rare genetic tremor disorder	Orphanet	307061	http://www.orpha.net/ORDO/Orphanet_307061
Rare genetic myoclonus	Rare genetic myoclonus	Orphanet	307064	http://www.orpha.net/ORDO/Orphanet_307064
Manganese poisoning	Manganese poisoning	Orphanet	306682	http://www.orpha.net/ORDO/Orphanet_306682
Rare parkinsonian syndrome due to intoxication	Rare parkinsonian syndrome due to intoxication	Orphanet	306679	http://www.orpha.net/ORDO/Orphanet_306679
Kufor-Rakeb syndrome	Kufor-Rakeb syndrome	Orphanet	306674	http://www.orpha.net/ORDO/Orphanet_306674
Hemiparkinsonism-hemiatrophy syndrome	Hemiparkinsonism-hemiatrophy syndrome	Orphanet	306669	http://www.orpha.net/ORDO/Orphanet_306669
Frontotemporal neurodegeneration with movement disorder	Frontotemporal neurodegeneration with movement disorder	Orphanet	306708	http://www.orpha.net/ORDO/Orphanet_306708
Miscellaneous movement disorder due to neurodegenerative disease	Miscellaneous movement disorder due to neurodegenerative disease	Orphanet	306695	http://www.orpha.net/ORDO/Orphanet_306695
Cyanide-induced parkinsonism-dystonia	Cyanide-induced parkinsonism-dystonia	Orphanet	306692	http://www.orpha.net/ORDO/Orphanet_306692
Delayed encephalopathy due to carbon monoxide poisoning	Delayed encephalopathy due to carbon monoxide poisoning	Orphanet	306686	http://www.orpha.net/ORDO/Orphanet_306686
Postinfectious autoimmune disease with chorea	Postinfectious autoimmune disease with chorea	Orphanet	306727	http://www.orpha.net/ORDO/Orphanet_306727
Neurodegenerative disease with chorea	Neurodegenerative disease with chorea	Orphanet	306719	http://www.orpha.net/ORDO/Orphanet_306719
Rare choreic movement disorder	Rare choreic movement disorder	Orphanet	306715	http://www.orpha.net/ORDO/Orphanet_306715
Rare tremor disorder	Rare tremor disorder	Orphanet	306712	http://www.orpha.net/ORDO/Orphanet_306712
Rare myoclonus	Rare myoclonus	Orphanet	306747	http://www.orpha.net/ORDO/Orphanet_306747
Hemidystonia-hemiatrophy syndrome	Hemidystonia-hemiatrophy syndrome	Orphanet	306741	http://www.orpha.net/ORDO/Orphanet_306741
Primary dystonia, DYT21 type	Primary dystonia, DYT21 type	Orphanet	306734	http://www.orpha.net/ORDO/Orphanet_306734
Sydenham chorea	Sydenham chorea	Orphanet	306731	http://www.orpha.net/ORDO/Orphanet_306731
Erythrokeratoderma variabilis progressiva	Erythrokeratoderma variabilis progressiva	Orphanet	308166	http://www.orpha.net/ORDO/Orphanet_308166
Methylcobalamin deficiency type cblDv1	Methylcobalamin deficiency type cblDv1	Orphanet	308380	http://www.orpha.net/ORDO/Orphanet_308380
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Orphanet	308386	http://www.orpha.net/ORDO/Orphanet_308386
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	Orphanet	308393	http://www.orpha.net/ORDO/Orphanet_308393
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	Orphanet	308400	http://www.orpha.net/ORDO/Orphanet_308400
Disorder of beta and omega amino acid metabolism	Disorder of beta and omega amino acid metabolism	Orphanet	308407	http://www.orpha.net/ORDO/Orphanet_308407
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	Orphanet	308410	http://www.orpha.net/ORDO/Orphanet_308410
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	Orphanet	308425	http://www.orpha.net/ORDO/Orphanet_308425
Disease with diffuse palmoplantar keratoderma as a major feature	Disease with diffuse palmoplantar keratoderma as a major feature	Orphanet	307711	http://www.orpha.net/ORDO/Orphanet_307711
Isolated diffuse palmoplantar keratoderma	Isolated diffuse palmoplantar keratoderma	Orphanet	307148	http://www.orpha.net/ORDO/Orphanet_307148
Curly hair-acral keratoderma-caries syndrome	Curly hair-acral keratoderma-caries syndrome	Orphanet	307766	http://www.orpha.net/ORDO/Orphanet_307766
Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature	Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature	Orphanet	307804	http://www.orpha.net/ORDO/Orphanet_307804
Autosomal dominant diffuse mutilating palmoplantar keratoderma	Autosomal dominant diffuse mutilating palmoplantar keratoderma	Orphanet	307773	http://www.orpha.net/ORDO/Orphanet_307773
Isolated focal palmoplantar keratoderma	Isolated focal palmoplantar keratoderma	Orphanet	307846	http://www.orpha.net/ORDO/Orphanet_307846
Focal palmoplantar keratoderma	Focal palmoplantar keratoderma	Orphanet	307837	http://www.orpha.net/ORDO/Orphanet_307837
Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome	Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome	Orphanet	307936	http://www.orpha.net/ORDO/Orphanet_307936
Disease with focal palmoplantar keratoderma as a major feature	Disease with focal palmoplantar keratoderma as a major feature	Orphanet	307871	http://www.orpha.net/ORDO/Orphanet_307871
Marginal papular palmoplantar keratoderma	Marginal papular palmoplantar keratoderma	Orphanet	307995	http://www.orpha.net/ORDO/Orphanet_307995
Punctate palmoplantar keratoderma	Punctate palmoplantar keratoderma	Orphanet	307967	http://www.orpha.net/ORDO/Orphanet_307967
Disease with punctate palmoplantar keratoderma as a major feature	Disease with punctate palmoplantar keratoderma as a major feature	Orphanet	308023	http://www.orpha.net/ORDO/Orphanet_308023
Focal acral hyperkeratosis	Focal acral hyperkeratosis	Orphanet	308013	http://www.orpha.net/ORDO/Orphanet_308013
Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature	Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature	Orphanet	308041	http://www.orpha.net/ORDO/Orphanet_308041
Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature	Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature	Orphanet	308031	http://www.orpha.net/ORDO/Orphanet_308031
Disorder of carbohydrate absorption and transport	Disorder of carbohydrate absorption and transport	Orphanet	309001	http://www.orpha.net/ORDO/Orphanet_309001
Disorder of lipid metabolism	Disorder of lipid metabolism	Orphanet	309005	http://www.orpha.net/ORDO/Orphanet_309005
Glycerol kinase deficiency	Glycerol kinase deficiency	Orphanet	308993	http://www.orpha.net/ORDO/Orphanet_308993
Disorder of glyoxylate metabolism	Disorder of glyoxylate metabolism	Orphanet	308998	http://www.orpha.net/ORDO/Orphanet_308998
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form	Orphanet	308698	http://www.orpha.net/ORDO/Orphanet_308698
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form	Orphanet	308712	http://www.orpha.net/ORDO/Orphanet_308712
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form	Orphanet	308670	http://www.orpha.net/ORDO/Orphanet_308670
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form	Orphanet	308684	http://www.orpha.net/ORDO/Orphanet_308684
Combined pancreatic lipase-colipase deficiency	Combined pancreatic lipase-colipase deficiency	Orphanet	309111	http://www.orpha.net/ORDO/Orphanet_309111
Disorder of fatty acid oxidation and ketogenesis	Disorder of fatty acid oxidation and ketogenesis	Orphanet	309115	http://www.orpha.net/ORDO/Orphanet_309115
Pancreatic triacylglycerol lipase deficiency	Pancreatic triacylglycerol lipase deficiency	Orphanet	309031	http://www.orpha.net/ORDO/Orphanet_309031
Pancreatic colipase deficiency	Pancreatic colipase deficiency	Orphanet	309108	http://www.orpha.net/ORDO/Orphanet_309108
Mevalonate kinase deficiency	Mevalonate kinase deficiency	Orphanet	309025	http://www.orpha.net/ORDO/Orphanet_309025
Disorder of lipid absorption and transport	Disorder of lipid absorption and transport	Orphanet	309028	http://www.orpha.net/ORDO/Orphanet_309028
Familial lipoprotein lipase deficiency	Familial lipoprotein lipase deficiency	Orphanet	309015	http://www.orpha.net/ORDO/Orphanet_309015
Familial apolipoprotein C-II deficiency	Familial apolipoprotein C-II deficiency	Orphanet	309020	http://www.orpha.net/ORDO/Orphanet_309020
Generalized galactose epimerase deficiency	Generalized galactose epimerase deficiency	Orphanet	308487	http://www.orpha.net/ORDO/Orphanet_308487
Chordoma	Chordoma	Orphanet	178	http://www.orpha.net/ORDO/Orphanet_178
Erythrocyte galactose epimerase deficiency	Erythrocyte galactose epimerase deficiency	Orphanet	308473	http://www.orpha.net/ORDO/Orphanet_308473
Disorder of galactose metabolism	Disorder of galactose metabolism	Orphanet	308467	http://www.orpha.net/ORDO/Orphanet_308467
Microcephalic osteodysplastic primordial dwarfism type II	Microcephalic osteodysplastic primordial dwarfism type II	Orphanet	2637	http://www.orpha.net/ORDO/Orphanet_2637
Disorder of fructose metabolism	Disorder of fructose metabolism	Orphanet	308463	http://www.orpha.net/ORDO/Orphanet_308463
Macrophagic myofasciitis	Macrophagic myofasciitis	Orphanet	592	http://www.orpha.net/ORDO/Orphanet_592
Disorder of glycolysis	Disorder of glycolysis	Orphanet	308459	http://www.orpha.net/ORDO/Orphanet_308459
Disorder of neutral amino acid transport	Disorder of neutral amino acid transport	Orphanet	308451	http://www.orpha.net/ORDO/Orphanet_308451
Aminoacylase deficiency	Aminoacylase deficiency	Orphanet	308448	http://www.orpha.net/ORDO/Orphanet_308448
Vitamin B12-responsive methylmalonic acidemia, type cblDv2	Vitamin B12-responsive methylmalonic acidemia, type cblDv2	Orphanet	308442	http://www.orpha.net/ORDO/Orphanet_308442
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form	Orphanet	308655	http://www.orpha.net/ORDO/Orphanet_308655
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form	Orphanet	308638	http://www.orpha.net/ORDO/Orphanet_308638
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form	Orphanet	308621	http://www.orpha.net/ORDO/Orphanet_308621
Glycogen storage disease due to acid maltase deficiency, infantile onset	Glycogen storage disease due to acid maltase deficiency, infantile onset	Orphanet	308552	http://www.orpha.net/ORDO/Orphanet_308552
Glycogen storage disease due to glycogen synthase deficiency	Glycogen storage disease due to glycogen synthase deficiency	Orphanet	308520	http://www.orpha.net/ORDO/Orphanet_308520
Metachromatic leukodystrophy, adult form	Metachromatic leukodystrophy, adult form	Orphanet	309271	http://www.orpha.net/ORDO/Orphanet_309271
Glycoproteinosis	Glycoproteinosis	Orphanet	309279	http://www.orpha.net/ORDO/Orphanet_309279
Alpha-mannosidosis, infantile form	Alpha-mannosidosis, infantile form	Orphanet	309282	http://www.orpha.net/ORDO/Orphanet_309282
Alpha-mannosidosis, adult form	Alpha-mannosidosis, adult form	Orphanet	309288	http://www.orpha.net/ORDO/Orphanet_309288
GM2 gangliosidosis, AB variant	GM2 gangliosidosis, AB variant	Orphanet	309246	http://www.orpha.net/ORDO/Orphanet_309246
Atypical Gaucher disease due to saposin C deficiency	Atypical Gaucher disease due to saposin C deficiency	Orphanet	309252	http://www.orpha.net/ORDO/Orphanet_309252
Metachromatic leukodystrophy, late infantile form	Metachromatic leukodystrophy, late infantile form	Orphanet	309256	http://www.orpha.net/ORDO/Orphanet_309256
Metachromatic leukodystrophy, juvenile form	Metachromatic leukodystrophy, juvenile form	Orphanet	309263	http://www.orpha.net/ORDO/Orphanet_309263
Free sialic acid storage disease, infantile form	Free sialic acid storage disease, infantile form	Orphanet	309324	http://www.orpha.net/ORDO/Orphanet_309324
Intermediate severe Salla disease	Intermediate severe Salla disease	Orphanet	309331	http://www.orpha.net/ORDO/Orphanet_309331
Salla disease	Salla disease	Orphanet	309334	http://www.orpha.net/ORDO/Orphanet_309334
Lysosomal glycogen storage disease	Lysosomal glycogen storage disease	Orphanet	309337	http://www.orpha.net/ORDO/Orphanet_309337
Sialidosis	Sialidosis	Orphanet	309294	http://www.orpha.net/ORDO/Orphanet_309294
Mucopolysaccharidosis type 4A	Mucopolysaccharidosis type 4A	Orphanet	309297	http://www.orpha.net/ORDO/Orphanet_309297
Mucopolysaccharidosis type 4B	Mucopolysaccharidosis type 4B	Orphanet	309310	http://www.orpha.net/ORDO/Orphanet_309310
Disorder of sialic acid metabolism	Disorder of sialic acid metabolism	Orphanet	309319	http://www.orpha.net/ORDO/Orphanet_309319
Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes	Orphanet	309136	http://www.orpha.net/ORDO/Orphanet_309136
Hyper-beta-alaninemia	Hyper-beta-alaninemia	Orphanet	309147	http://www.orpha.net/ORDO/Orphanet_309147
Gangliosidosis	Gangliosidosis	Orphanet	309144	http://www.orpha.net/ORDO/Orphanet_309144
3-hydroxyacyl-CoA dehydrogenase deficiency	3-hydroxyacyl-CoA dehydrogenase deficiency	Orphanet	309127	http://www.orpha.net/ORDO/Orphanet_309127
Acyl-CoA dehydrogenase deficiency	Acyl-CoA dehydrogenase deficiency	Orphanet	309120	http://www.orpha.net/ORDO/Orphanet_309120
Metabolic disease due to other fatty acid oxidation disorder	Metabolic disease due to other fatty acid oxidation disorder	Orphanet	309133	http://www.orpha.net/ORDO/Orphanet_309133
Disorder of carnitine cycle and carnitine transport	Disorder of carnitine cycle and carnitine transport	Orphanet	309130	http://www.orpha.net/ORDO/Orphanet_309130
Tay-Sachs disease, B variant, juvenile form	Tay-Sachs disease, B variant, juvenile form	Orphanet	309185	http://www.orpha.net/ORDO/Orphanet_309185
Tay-Sachs disease, B variant, infantile form	Tay-Sachs disease, B variant, infantile form	Orphanet	309178	http://www.orpha.net/ORDO/Orphanet_309178
Tay-Sachs disease, B1 variant	Tay-Sachs disease, B1 variant	Orphanet	309239	http://www.orpha.net/ORDO/Orphanet_309239
Tay-Sachs disease, B variant, adult form	Tay-Sachs disease, B variant, adult form	Orphanet	309192	http://www.orpha.net/ORDO/Orphanet_309192
Sandhoff disease, infantile form	Sandhoff disease, infantile form	Orphanet	309155	http://www.orpha.net/ORDO/Orphanet_309155
GM2 gangliosidosis	GM2 gangliosidosis	Orphanet	309152	http://www.orpha.net/ORDO/Orphanet_309152
Sandhoff disease, adult form	Sandhoff disease, adult form	Orphanet	309169	http://www.orpha.net/ORDO/Orphanet_309169
Sandhoff disease, juvenile form	Sandhoff disease, juvenile form	Orphanet	309162	http://www.orpha.net/ORDO/Orphanet_309162
Autosomal recessive infantile hypercalcemia	Autosomal recessive infantile hypercalcemia	Orphanet	300547	http://www.orpha.net/ORDO/Orphanet_300547
Follicular cholangitis and pancreatitis	Follicular cholangitis and pancreatitis	Orphanet	300552	http://www.orpha.net/ORDO/Orphanet_300552
Carcinoma of the ampulla of Vater	Carcinoma of the ampulla of Vater	Orphanet	300557	http://www.orpha.net/ORDO/Orphanet_300557
Combined pulmonary fibrosis-emphysema syndrome	Combined pulmonary fibrosis-emphysema syndrome	Orphanet	300564	http://www.orpha.net/ORDO/Orphanet_300564
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	Orphanet	300570	http://www.orpha.net/ORDO/Orphanet_300570
Polymicrogyria due to TUBB2B mutation	Polymicrogyria due to TUBB2B mutation	Orphanet	300573	http://www.orpha.net/ORDO/Orphanet_300573
Oligodontia-cancer predisposition syndrome	Oligodontia-cancer predisposition syndrome	Orphanet	300576	http://www.orpha.net/ORDO/Orphanet_300576
Staphylococcal toxemia	Staphylococcal toxemia	Orphanet	300579	http://www.orpha.net/ORDO/Orphanet_300579
Multiple congenital anomalies-hypotonia-seizures syndrome type 2	Multiple congenital anomalies-hypotonia-seizures syndrome type 2	Orphanet	300496	http://www.orpha.net/ORDO/Orphanet_300496
Painful orbital and systemic neurofibromas-marfanoid habitus syndrome	Painful orbital and systemic neurofibromas-marfanoid habitus syndrome	Orphanet	300501	http://www.orpha.net/ORDO/Orphanet_300501
Onychocytic matricoma	Onychocytic matricoma	Orphanet	300504	http://www.orpha.net/ORDO/Orphanet_300504
Onychomatricoma	Onychomatricoma	Orphanet	300512	http://www.orpha.net/ORDO/Orphanet_300512
Rare nail tumor	Rare nail tumor	Orphanet	300515	http://www.orpha.net/ORDO/Orphanet_300515
Pseudohypoaldosteronism type 2D	Pseudohypoaldosteronism type 2D	Orphanet	300525	http://www.orpha.net/ORDO/Orphanet_300525
Pseudohypoaldosteronism type 2E	Pseudohypoaldosteronism type 2E	Orphanet	300530	http://www.orpha.net/ORDO/Orphanet_300530
DDOST-CDG	DDOST-CDG	Orphanet	300536	http://www.orpha.net/ORDO/Orphanet_300536
Diffuse large B-cell lymphoma of the central nervous system	Diffuse large B-cell lymphoma of the central nervous system	Orphanet	300849	http://www.orpha.net/ORDO/Orphanet_300849
Aggressive B-cell non-Hodgkin lymphoma	Aggressive B-cell non-Hodgkin lymphoma	Orphanet	300846	http://www.orpha.net/ORDO/Orphanet_300846
Primary cutaneous anaplastic large cell lymphoma	Primary cutaneous anaplastic large cell lymphoma	Orphanet	300865	http://www.orpha.net/ORDO/Orphanet_300865
T-cell/histiocyte rich large B cell lymphoma	T-cell/histiocyte rich large B cell lymphoma	Orphanet	300857	http://www.orpha.net/ORDO/Orphanet_300857
Hairy cell leukemia variant	Hairy cell leukemia variant	Orphanet	300878	http://www.orpha.net/ORDO/Orphanet_300878
Splenic diffuse red pulp small B-cell lymphoma	Splenic diffuse red pulp small B-cell lymphoma	Orphanet	300869	http://www.orpha.net/ORDO/Orphanet_300869
ALK-positive anaplastic large cell lymphoma	ALK-positive anaplastic large cell lymphoma	Orphanet	300895	http://www.orpha.net/ORDO/Orphanet_300895
Diffuse large B-cell lymphoma with chronic inflammation	Diffuse large B-cell lymphoma with chronic inflammation	Orphanet	300888	http://www.orpha.net/ORDO/Orphanet_300888
Juvenile amyotrophic lateral sclerosis	Juvenile amyotrophic lateral sclerosis	Orphanet	300605	http://www.orpha.net/ORDO/Orphanet_300605
Laminopathy with striated muscle involvement	Laminopathy with striated muscle involvement	Orphanet	300755	http://www.orpha.net/ORDO/Orphanet_300755
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	Orphanet	300751	http://www.orpha.net/ORDO/Orphanet_300751
Laminopathy with lipodystrophy	Laminopathy with lipodystrophy	Orphanet	300763	http://www.orpha.net/ORDO/Orphanet_300763
Laminopathy with peripheral neuropathy	Laminopathy with peripheral neuropathy	Orphanet	300758	http://www.orpha.net/ORDO/Orphanet_300758
Indolent B-cell non-Hodgkin lymphoma	Indolent B-cell non-Hodgkin lymphoma	Orphanet	300842	http://www.orpha.net/ORDO/Orphanet_300842
Laminopathy with premature aging	Laminopathy with premature aging	Orphanet	300766	http://www.orpha.net/ORDO/Orphanet_300766
ALK-negative anaplastic large cell lymphoma	ALK-negative anaplastic large cell lymphoma	Orphanet	300903	http://www.orpha.net/ORDO/Orphanet_300903
Marginal zone lymphoma	Marginal zone lymphoma	Orphanet	300912	http://www.orpha.net/ORDO/Orphanet_300912
Pituitary tumor	Pituitary tumor	Orphanet	304055	http://www.orpha.net/ORDO/Orphanet_304055
Congenital sucrase-isomaltase deficiency with starch intolerance	Congenital sucrase-isomaltase deficiency with starch intolerance	Orphanet	306436	http://www.orpha.net/ORDO/Orphanet_306436
Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies	Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies	Orphanet	306431	http://www.orpha.net/ORDO/Orphanet_306431
Congenital sucrase-isomaltase deficiency without starch intolerance	Congenital sucrase-isomaltase deficiency without starch intolerance	Orphanet	306462	http://www.orpha.net/ORDO/Orphanet_306462
Congenital sucrase-isomaltase deficiency with minimal starch tolerance	Congenital sucrase-isomaltase deficiency with minimal starch tolerance	Orphanet	306446	http://www.orpha.net/ORDO/Orphanet_306446
FADD-related immunodeficiency	FADD-related immunodeficiency	Orphanet	306550	http://www.orpha.net/ORDO/Orphanet_306550
Myospherulosis	Myospherulosis	Orphanet	306553	http://www.orpha.net/ORDO/Orphanet_306553
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	Orphanet	306542	http://www.orpha.net/ORDO/Orphanet_306542
Porencephaly-microcephaly-bilateral congenital cataract syndrome	Porencephaly-microcephaly-bilateral congenital cataract syndrome	Orphanet	306547	http://www.orpha.net/ORDO/Orphanet_306547
Congenital hereditary facial paralysis-variable hearing loss syndrome	Congenital hereditary facial paralysis-variable hearing loss syndrome	Orphanet	306530	http://www.orpha.net/ORDO/Orphanet_306530
Genetic primary hypomagnesemia with normocalciuria	Genetic primary hypomagnesemia with normocalciuria	Orphanet	306522	http://www.orpha.net/ORDO/Orphanet_306522
Isolated hereditary congenital facial paralysis	Isolated hereditary congenital facial paralysis	Orphanet	306527	http://www.orpha.net/ORDO/Orphanet_306527
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis	Orphanet	306516	http://www.orpha.net/ORDO/Orphanet_306516
Genetic primary hypomagnesemia with hypocalciuria	Genetic primary hypomagnesemia with hypocalciuria	Orphanet	306519	http://www.orpha.net/ORDO/Orphanet_306519
LAMB2-related infantile-onset nephrotic syndrome	LAMB2-related infantile-onset nephrotic syndrome	Orphanet	306507	http://www.orpha.net/ORDO/Orphanet_306507
Autosomal recessive spastic paraplegia type 48	Autosomal recessive spastic paraplegia type 48	Orphanet	306511	http://www.orpha.net/ORDO/Orphanet_306511
PTEN hamartoma tumor syndrome	PTEN hamartoma tumor syndrome	Orphanet	306498	http://www.orpha.net/ORDO/Orphanet_306498
Junctional epidermolysis bullosa with respiratory and renal involvement	Junctional epidermolysis bullosa with respiratory and renal involvement	Orphanet	306504	http://www.orpha.net/ORDO/Orphanet_306504
Congenital sucrase-isomaltase deficiency with starch and lactose intolerance	Congenital sucrase-isomaltase deficiency with starch and lactose intolerance	Orphanet	306474	http://www.orpha.net/ORDO/Orphanet_306474
Congenital sucrase-isomaltase deficiency without sucrose intolerance	Congenital sucrase-isomaltase deficiency without sucrose intolerance	Orphanet	306486	http://www.orpha.net/ORDO/Orphanet_306486
Rare parkinsonian syndrome due to neurodegenerative disease	Rare parkinsonian syndrome due to neurodegenerative disease	Orphanet	306666	http://www.orpha.net/ORDO/Orphanet_306666
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome	Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome	Orphanet	306661	http://www.orpha.net/ORDO/Orphanet_306661
Familial normophosphatemic tumoral calcinosis	Familial normophosphatemic tumoral calcinosis	Orphanet	306658	http://www.orpha.net/ORDO/Orphanet_306658
Non-infectious anterior uveitis	Non-infectious anterior uveitis	Orphanet	306648	http://www.orpha.net/ORDO/Orphanet_306648
Complication after organ transplantation	Complication after organ transplantation	Orphanet	306644	http://www.orpha.net/ORDO/Orphanet_306644
Rare intoxication due to medical products	Rare intoxication due to medical products	Orphanet	306640	http://www.orpha.net/ORDO/Orphanet_306640
Rare tumor of liver and intrahepatic biliary tract	Rare tumor of liver and intrahepatic biliary tract	Orphanet	306636	http://www.orpha.net/ORDO/Orphanet_306636
Rare tumor of gallbladder and extrahepatic biliary tract	Rare tumor of gallbladder and extrahepatic biliary tract	Orphanet	306633	http://www.orpha.net/ORDO/Orphanet_306633
X-linked complicated spastic paraplegia type 1	X-linked complicated spastic paraplegia type 1	Orphanet	306617	http://www.orpha.net/ORDO/Orphanet_306617
X-linked Opitz G/BBB syndrome	X-linked Opitz G/BBB syndrome	Orphanet	306597	http://www.orpha.net/ORDO/Orphanet_306597
Autosomal dominant Opitz G/BBB syndrome	Autosomal dominant Opitz G/BBB syndrome	Orphanet	306588	http://www.orpha.net/ORDO/Orphanet_306588
Sodium channelopathy-related small fiber neuropathy	Sodium channelopathy-related small fiber neuropathy	Orphanet	306577	http://www.orpha.net/ORDO/Orphanet_306577
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome	Orphanet	306558	http://www.orpha.net/ORDO/Orphanet_306558
Zygodactyly type 1	Zygodactyly type 1	Orphanet	295187	http://www.orpha.net/ORDO/Orphanet_295187
Zygodactyly type 4	Zygodactyly type 4	Orphanet	295193	http://www.orpha.net/ORDO/Orphanet_295193
Synpolydactyly type 1	Synpolydactyly type 1	Orphanet	295195	http://www.orpha.net/ORDO/Orphanet_295195
Zygodactyly type 2	Zygodactyly type 2	Orphanet	295189	http://www.orpha.net/ORDO/Orphanet_295189
Zygodactyly type 3	Zygodactyly type 3	Orphanet	295191	http://www.orpha.net/ORDO/Orphanet_295191
Congenital vertical talus, unilateral	Congenital vertical talus, unilateral	Orphanet	295201	http://www.orpha.net/ORDO/Orphanet_295201
Congenital vertical talus, bilateral	Congenital vertical talus, bilateral	Orphanet	295203	http://www.orpha.net/ORDO/Orphanet_295203
Synpolydactyly type 2	Synpolydactyly type 2	Orphanet	295197	http://www.orpha.net/ORDO/Orphanet_295197
Synpolydactyly type 3	Synpolydactyly type 3	Orphanet	295199	http://www.orpha.net/ORDO/Orphanet_295199
Radio-ulnar synostosis, unilateral	Radio-ulnar synostosis, unilateral	Orphanet	295217	http://www.orpha.net/ORDO/Orphanet_295217
Radio-ulnar synostosis, bilateral	Radio-ulnar synostosis, bilateral	Orphanet	295219	http://www.orpha.net/ORDO/Orphanet_295219
Humero-ulnar synostosis, unilateral	Humero-ulnar synostosis, unilateral	Orphanet	295213	http://www.orpha.net/ORDO/Orphanet_295213
Humero-ulnar synostosis, bilateral	Humero-ulnar synostosis, bilateral	Orphanet	295215	http://www.orpha.net/ORDO/Orphanet_295215
Congenital genu flexum	Congenital genu flexum	Orphanet	295232	http://www.orpha.net/ORDO/Orphanet_295232
Congenital genu recurvatum	Congenital genu recurvatum	Orphanet	295229	http://www.orpha.net/ORDO/Orphanet_295229
Congenital elbow dislocation, bilateral	Congenital elbow dislocation, bilateral	Orphanet	295227	http://www.orpha.net/ORDO/Orphanet_295227
Congenital elbow dislocation, unilateral	Congenital elbow dislocation, unilateral	Orphanet	295225	http://www.orpha.net/ORDO/Orphanet_295225
Macrodactyly of fingers, bilateral	Macrodactyly of fingers, bilateral	Orphanet	295241	http://www.orpha.net/ORDO/Orphanet_295241
Macrodactyly of fingers, unilateral	Macrodactyly of fingers, unilateral	Orphanet	295239	http://www.orpha.net/ORDO/Orphanet_295239
Macrodactyly of toes, bilateral	Macrodactyly of toes, bilateral	Orphanet	295245	http://www.orpha.net/ORDO/Orphanet_295245
Macrodactyly of toes, unilateral	Macrodactyly of toes, unilateral	Orphanet	295243	http://www.orpha.net/ORDO/Orphanet_295243
Disorder of thiamine metabolism and transport	Disorder of thiamine metabolism and transport	Orphanet	298644	http://www.orpha.net/ORDO/Orphanet_298644
Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	Orphanet	300179	http://www.orpha.net/ORDO/Orphanet_300179
Charcot-Marie-Tooth disease type 2P	Charcot-Marie-Tooth disease type 2P	Orphanet	300319	http://www.orpha.net/ORDO/Orphanet_300319
Persistent polyclonal B-cell lymphocytosis	Persistent polyclonal B-cell lymphocytosis	Orphanet	300324	http://www.orpha.net/ORDO/Orphanet_300324
Congenital cataract-hearing loss-severe developmental delay syndrome	Congenital cataract-hearing loss-severe developmental delay syndrome	Orphanet	300313	http://www.orpha.net/ORDO/Orphanet_300313
Severe congenital hypochromic anemia with ringed sideroblasts	Severe congenital hypochromic anemia with ringed sideroblasts	Orphanet	300298	http://www.orpha.net/ORDO/Orphanet_300298
11p15.4 microduplication syndrome	11p15.4 microduplication syndrome	Orphanet	300305	http://www.orpha.net/ORDO/Orphanet_300305
Connective tissue disorder due to lysyl hydroxylase-3 deficiency	Connective tissue disorder due to lysyl hydroxylase-3 deficiency	Orphanet	300284	http://www.orpha.net/ORDO/Orphanet_300284
Transient infantile hypertriglyceridemia and hepatosteatosis	Transient infantile hypertriglyceridemia and hepatosteatosis	Orphanet	300293	http://www.orpha.net/ORDO/Orphanet_300293
Pituitary carcinoma	Pituitary carcinoma	Orphanet	300385	http://www.orpha.net/ORDO/Orphanet_300385
Sagliker syndrome	Sagliker syndrome	Orphanet	300493	http://www.orpha.net/ORDO/Orphanet_300493
X-linked acrogigantism	X-linked acrogigantism	Orphanet	300373	http://www.orpha.net/ORDO/Orphanet_300373
Progeroid and marfanoid aspect-lipodystrophy syndrome	Progeroid and marfanoid aspect-lipodystrophy syndrome	Orphanet	300382	http://www.orpha.net/ORDO/Orphanet_300382
Autosomal systemic lupus erythematosus	Autosomal systemic lupus erythematosus	Orphanet	300345	http://www.orpha.net/ORDO/Orphanet_300345
PLCG2-associated antibody deficiency and immune dysregulation	PLCG2-associated antibody deficiency and immune dysregulation	Orphanet	300359	http://www.orpha.net/ORDO/Orphanet_300359
Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome	Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome	Orphanet	300333	http://www.orpha.net/ORDO/Orphanet_300333
Fever-associated acute infantile liver failure syndrome	Fever-associated acute infantile liver failure syndrome	Orphanet	464724	http://www.orpha.net/ORDO/Orphanet_464724
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome	Orphanet	464738	http://www.orpha.net/ORDO/Orphanet_464738
Familial cavitary optic disc anomaly	Familial cavitary optic disc anomaly	Orphanet	464760	http://www.orpha.net/ORDO/Orphanet_464760
Familial gastric type 1 neuroendocrine tumor	Familial gastric type 1 neuroendocrine tumor	Orphanet	464756	http://www.orpha.net/ORDO/Orphanet_464756
Immune-mediated acquired neuromuscular junction disease	Immune-mediated acquired neuromuscular junction disease	Orphanet	464764	http://www.orpha.net/ORDO/Orphanet_464764
Symptomatic form of hemochromatosis type 1	Symptomatic form of hemochromatosis type 1	Orphanet	465508	http://www.orpha.net/ORDO/Orphanet_465508
Spastic paraplegia-severe developmental delay-epilepsy syndrome	Spastic paraplegia-severe developmental delay-epilepsy syndrome	Orphanet	464282	http://www.orpha.net/ORDO/Orphanet_464282
Short stature-brachydactyly-obesity-global developmental delay syndrome	Short stature-brachydactyly-obesity-global developmental delay syndrome	Orphanet	464288	http://www.orpha.net/ORDO/Orphanet_464288
DYRK1A-related intellectual disability syndrome	DYRK1A-related intellectual disability syndrome	Orphanet	464306	http://www.orpha.net/ORDO/Orphanet_464306
NON RARE IN EUROPE: Infantile capillary hemangioma	NON RARE IN EUROPE: Infantile capillary hemangioma	Orphanet	464293	http://www.orpha.net/ORDO/Orphanet_464293
Kaposiform lymphangiomatosis	Kaposiform lymphangiomatosis	Orphanet	464329	http://www.orpha.net/ORDO/Orphanet_464329
Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome	Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome	Orphanet	464321	http://www.orpha.net/ORDO/Orphanet_464321
Verrucous hemangioma	Verrucous hemangioma	Orphanet	464318	http://www.orpha.net/ORDO/Orphanet_464318
Intellectual disability syndrome due to a DYRK1A point mutation	Intellectual disability syndrome due to a DYRK1A point mutation	Orphanet	464311	http://www.orpha.net/ORDO/Orphanet_464311
NEK9-related lethal skeletal dysplasia	NEK9-related lethal skeletal dysplasia	Orphanet	464366	http://www.orpha.net/ORDO/Orphanet_464366
Benign metanephric tumour	Benign metanephric tumour	Orphanet	464359	http://www.orpha.net/ORDO/Orphanet_464359
Catastrophic antiphospholipid syndrome	Catastrophic antiphospholipid syndrome	Orphanet	464343	http://www.orpha.net/ORDO/Orphanet_464343
BENTA disease	BENTA disease	Orphanet	464336	http://www.orpha.net/ORDO/Orphanet_464336
Acquired methemoglobinemia	Acquired methemoglobinemia	Orphanet	464453	http://www.orpha.net/ORDO/Orphanet_464453
COG6-CGD	COG6-CGD	Orphanet	464443	http://www.orpha.net/ORDO/Orphanet_464443
Primary dystonia, DYT27 type	Primary dystonia, DYT27 type	Orphanet	464440	http://www.orpha.net/ORDO/Orphanet_464440
Neonatal alloimmune neutropenia	Neonatal alloimmune neutropenia	Orphanet	464370	http://www.orpha.net/ORDO/Orphanet_464370
NON RARE IN EUROPE: Adenocarcinoma of stomach	NON RARE IN EUROPE: Adenocarcinoma of stomach	Orphanet	464463	http://www.orpha.net/ORDO/Orphanet_464463
Paracetamol poisoning	Paracetamol poisoning	Orphanet	464458	http://www.orpha.net/ORDO/Orphanet_464458
Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG	Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG	Orphanet	639	http://www.orpha.net/ORDO/Orphanet_639
Yellow nail syndrome	Yellow nail syndrome	Orphanet	662	http://www.orpha.net/ORDO/Orphanet_662
Toxic epidermal necrolysis	Toxic epidermal necrolysis	Orphanet	537	http://www.orpha.net/ORDO/Orphanet_537
SAPHO syndrome	SAPHO syndrome	Orphanet	793	http://www.orpha.net/ORDO/Orphanet_793
1p35.2 microdeletion syndrome	1p35.2 microdeletion syndrome	Orphanet	456298	http://www.orpha.net/ORDO/Orphanet_456298
X-linked myotubular myopathy-abnormal genitalia syndrome	X-linked myotubular myopathy-abnormal genitalia syndrome	Orphanet	456328	http://www.orpha.net/ORDO/Orphanet_456328
Hereditary neuroendocrine tumor of small intestine	Hereditary neuroendocrine tumor of small intestine	Orphanet	456333	http://www.orpha.net/ORDO/Orphanet_456333
Infantile multisystem neurologic-endocrine-pancreatic disease	Infantile multisystem neurologic-endocrine-pancreatic disease	Orphanet	456312	http://www.orpha.net/ORDO/Orphanet_456312
Hereditary sensory neuropathy-deafness-dementia syndrome	Hereditary sensory neuropathy-deafness-dementia syndrome	Orphanet	456318	http://www.orpha.net/ORDO/Orphanet_456318
NTHL1-related attenuated familial adenomatous polyposis	NTHL1-related attenuated familial adenomatous polyposis	Orphanet	454840	http://www.orpha.net/ORDO/Orphanet_454840
Acute radiation syndrome	Acute radiation syndrome	Orphanet	454831	http://www.orpha.net/ORDO/Orphanet_454831
Avian influenza	Avian influenza	Orphanet	454836	http://www.orpha.net/ORDO/Orphanet_454836
Corticobasal syndrome	Corticobasal syndrome	Orphanet	454887	http://www.orpha.net/ORDO/Orphanet_454887
Variably protease-sensitive prionopathy	Variably protease-sensitive prionopathy	Orphanet	454742	http://www.orpha.net/ORDO/Orphanet_454742
Endometrioid carcinoma of ovary	Endometrioid carcinoma of ovary	Orphanet	454723	http://www.orpha.net/ORDO/Orphanet_454723
Holmes-Adie syndrome	Holmes-Adie syndrome	Orphanet	454718	http://www.orpha.net/ORDO/Orphanet_454718
Plasma cell leukemia	Plasma cell leukemia	Orphanet	454714	http://www.orpha.net/ORDO/Orphanet_454714
Pleomorphic salivary gland adenoma	Pleomorphic salivary gland adenoma	Orphanet	454821	http://www.orpha.net/ORDO/Orphanet_454821
Isolated tracheoesophageal fistula	Isolated tracheoesophageal fistula	Orphanet	454750	http://www.orpha.net/ORDO/Orphanet_454750
Kuru	Kuru	Orphanet	454745	http://www.orpha.net/ORDO/Orphanet_454745
Polyendocrine-polyneuropathy syndrome	Polyendocrine-polyneuropathy syndrome	Orphanet	453533	http://www.orpha.net/ORDO/Orphanet_453533
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	Orphanet	453521	http://www.orpha.net/ORDO/Orphanet_453521
Anti-p200 pemphigoid	Anti-p200 pemphigoid	Orphanet	454710	http://www.orpha.net/ORDO/Orphanet_454710
Progressive muscular atrophy	Progressive muscular atrophy	Orphanet	454706	http://www.orpha.net/ORDO/Orphanet_454706
Acquired Creutzfeldt-Jakob disease	Acquired Creutzfeldt-Jakob disease	Orphanet	454700	http://www.orpha.net/ORDO/Orphanet_454700
Primary cutaneous plasmacytosis	Primary cutaneous plasmacytosis	Orphanet	451602	http://www.orpha.net/ORDO/Orphanet_451602
Cutaneous pseudolymphoma	Cutaneous pseudolymphoma	Orphanet	451607	http://www.orpha.net/ORDO/Orphanet_451607
Familial congenital nasolacrimal duct obstruction	Familial congenital nasolacrimal duct obstruction	Orphanet	451612	http://www.orpha.net/ORDO/Orphanet_451612
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome	Orphanet	453499	http://www.orpha.net/ORDO/Orphanet_453499
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	Orphanet	453504	http://www.orpha.net/ORDO/Orphanet_453504
Congenital insensitivity to pain with severe intellectual disability	Congenital insensitivity to pain with severe intellectual disability	Orphanet	453510	http://www.orpha.net/ORDO/Orphanet_453510
Polyclonal hyperviscosity syndrome	Polyclonal hyperviscosity syndrome	Orphanet	450322	http://www.orpha.net/ORDO/Orphanet_450322
Eosinophilic angiocentric fibrosis	Eosinophilic angiocentric fibrosis	Orphanet	449566	http://www.orpha.net/ORDO/Orphanet_449566
IgG4-related ophthalmic disease	IgG4-related ophthalmic disease	Orphanet	449563	http://www.orpha.net/ORDO/Orphanet_449563
Symptomatic form of fragile X syndrome in female carrier	Symptomatic form of fragile X syndrome in female carrier	Orphanet	449291	http://www.orpha.net/ORDO/Orphanet_449291
IgG4-related aortitis	IgG4-related aortitis	Orphanet	449400	http://www.orpha.net/ORDO/Orphanet_449400
IgG4-related kidney disease	IgG4-related kidney disease	Orphanet	449395	http://www.orpha.net/ORDO/Orphanet_449395
IgG4-related submandibular gland disease	IgG4-related submandibular gland disease	Orphanet	449432	http://www.orpha.net/ORDO/Orphanet_449432
IgG4-related pachymeningitis	IgG4-related pachymeningitis	Orphanet	449427	http://www.orpha.net/ORDO/Orphanet_449427
Scedosporiosis	Scedosporiosis	Orphanet	449280	http://www.orpha.net/ORDO/Orphanet_449280
Snakebite envenomation	Snakebite envenomation	Orphanet	449285	http://www.orpha.net/ORDO/Orphanet_449285
Pleural empyema	Pleural empyema	Orphanet	449266	http://www.orpha.net/ORDO/Orphanet_449266
NON RARE IN EUROPE: Primary bile acid malabsorption	NON RARE IN EUROPE: Primary bile acid malabsorption	Orphanet	449262	http://www.orpha.net/ORDO/Orphanet_449262
Genetic primary orthostatic hypotension	Genetic primary orthostatic hypotension	Orphanet	448426	http://www.orpha.net/ORDO/Orphanet_448426
Isolated focal non-epidermolytic palmoplantar keratoderma	Isolated focal non-epidermolytic palmoplantar keratoderma	Orphanet	448264	http://www.orpha.net/ORDO/Orphanet_448264
Progressive autosomal recessive ataxia-deafness syndrome	Progressive autosomal recessive ataxia-deafness syndrome	Orphanet	448251	http://www.orpha.net/ORDO/Orphanet_448251
Ectopia cordis	Ectopia cordis	Orphanet	448270	http://www.orpha.net/ORDO/Orphanet_448270
Regressive spondylometaphyseal dysplasia	Regressive spondylometaphyseal dysplasia	Orphanet	448267	http://www.orpha.net/ORDO/Orphanet_448267
CAD-CDG	CAD-CDG	Orphanet	448010	http://www.orpha.net/ORDO/Orphanet_448010
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	Orphanet	447997	http://www.orpha.net/ORDO/Orphanet_447997
Autosomal recessive brachyolmia	Autosomal recessive brachyolmia	Orphanet	448242	http://www.orpha.net/ORDO/Orphanet_448242
Zika virus disease	Zika virus disease	Orphanet	448237	http://www.orpha.net/ORDO/Orphanet_448237
Progressive scapulohumeroperoneal distal myopathy	Progressive scapulohumeroperoneal distal myopathy	Orphanet	447977	http://www.orpha.net/ORDO/Orphanet_447977
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	Orphanet	447974	http://www.orpha.net/ORDO/Orphanet_447974
Partial duplication of the short arm of chromosome 19	Partial duplication of the short arm of chromosome 19	Orphanet	447985	http://www.orpha.net/ORDO/Orphanet_447985
19p13.3 microduplication syndrome	19p13.3 microduplication syndrome	Orphanet	447980	http://www.orpha.net/ORDO/Orphanet_447980
Combined oxidative phosphorylation defect type 25	Combined oxidative phosphorylation defect type 25	Orphanet	447954	http://www.orpha.net/ORDO/Orphanet_447954
Autosomal dominant Charcot-Marie-Tooth disease type 2V	Autosomal dominant Charcot-Marie-Tooth disease type 2V	Orphanet	447964	http://www.orpha.net/ORDO/Orphanet_447964
Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome	Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome	Orphanet	447961	http://www.orpha.net/ORDO/Orphanet_447961
C1 inhibitor deficiency	C1 inhibitor deficiency	Orphanet	459353	http://www.orpha.net/ORDO/Orphanet_459353
Rare genetic capillary malformation	Rare genetic capillary malformation	Orphanet	459526	http://www.orpha.net/ORDO/Orphanet_459526
Immunodeficiency due to a complement cascade component deficiency	Immunodeficiency due to a complement cascade component deficiency	Orphanet	459345	http://www.orpha.net/ORDO/Orphanet_459345
Immunodeficiency due to a complement regulatory deficiency	Immunodeficiency due to a complement regulatory deficiency	Orphanet	459348	http://www.orpha.net/ORDO/Orphanet_459348
Rare genetic vascular tumor	Rare genetic vascular tumor	Orphanet	459543	http://www.orpha.net/ORDO/Orphanet_459543
Rare genetic venous malformation	Rare genetic venous malformation	Orphanet	459548	http://www.orpha.net/ORDO/Orphanet_459548
Genetic complex vascular malformation with associated anomalies	Genetic complex vascular malformation with associated anomalies	Orphanet	459537	http://www.orpha.net/ORDO/Orphanet_459537
Lethal multiple congenital anomalies/dysmorphic syndrome	Lethal multiple congenital anomalies/dysmorphic syndrome	Orphanet	459787	http://www.orpha.net/ORDO/Orphanet_459787
NON RARE IN EUROPE: Gender dysphoria	NON RARE IN EUROPE: Gender dysphoria	Orphanet	459690	http://www.orpha.net/ORDO/Orphanet_459690
NON RARE IN EUROPE: Juvenile idiopathic scoliosis	NON RARE IN EUROPE: Juvenile idiopathic scoliosis	Orphanet	459696	http://www.orpha.net/ORDO/Orphanet_459696
Rare combined vascular malformation	Rare combined vascular malformation	Orphanet	458837	http://www.orpha.net/ORDO/Orphanet_458837
Common cystic lymphatic malformation	Common cystic lymphatic malformation	Orphanet	458833	http://www.orpha.net/ORDO/Orphanet_458833
Rare vascular malformation of major vessels	Rare vascular malformation of major vessels	Orphanet	458844	http://www.orpha.net/ORDO/Orphanet_458844
Ataxia-oculomotor apraxia type 4	Ataxia-oculomotor apraxia type 4	Orphanet	459033	http://www.orpha.net/ORDO/Orphanet_459033
Spondyloepiphyseal dysplasia, Stanescu type	Spondyloepiphyseal dysplasia, Stanescu type	Orphanet	459051	http://www.orpha.net/ORDO/Orphanet_459051
Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	Orphanet	459061	http://www.orpha.net/ORDO/Orphanet_459061
Autosomal recessive spastic paraplegia type 75	Autosomal recessive spastic paraplegia type 75	Orphanet	459056	http://www.orpha.net/ORDO/Orphanet_459056
Corpus callosum agenesis-macrocephaly-hypertelorism syndrome	Corpus callosum agenesis-macrocephaly-hypertelorism syndrome	Orphanet	459074	http://www.orpha.net/ORDO/Orphanet_459074
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	Orphanet	459070	http://www.orpha.net/ORDO/Orphanet_459070
NON RARE IN EUROPE: Specific language impairment	NON RARE IN EUROPE: Specific language impairment	Orphanet	458713	http://www.orpha.net/ORDO/Orphanet_458713
Idiopathic spontaneous coronary artery dissection	Idiopathic spontaneous coronary artery dissection	Orphanet	458718	http://www.orpha.net/ORDO/Orphanet_458718
Composite hemangioendothelioma	Composite hemangioendothelioma	Orphanet	458758	http://www.orpha.net/ORDO/Orphanet_458758
Retiform hemangioendothelioma	Retiform hemangioendothelioma	Orphanet	458763	http://www.orpha.net/ORDO/Orphanet_458763
Primary intralymphatic angioendothelioma	Primary intralymphatic angioendothelioma	Orphanet	458768	http://www.orpha.net/ORDO/Orphanet_458768
Congenital hemangioma	Congenital hemangioma	Orphanet	458775	http://www.orpha.net/ORDO/Orphanet_458775
Partially involuting congenital hemangioma	Partially involuting congenital hemangioma	Orphanet	458785	http://www.orpha.net/ORDO/Orphanet_458785
Mixed cystic lymphatic malformation	Mixed cystic lymphatic malformation	Orphanet	458792	http://www.orpha.net/ORDO/Orphanet_458792
Spinocerebellar ataxia type 41	Spinocerebellar ataxia type 41	Orphanet	458798	http://www.orpha.net/ORDO/Orphanet_458798
Spinocerebellar ataxia type 42	Spinocerebellar ataxia type 42	Orphanet	458803	http://www.orpha.net/ORDO/Orphanet_458803
Vascular tumor with associated anomalies	Vascular tumor with associated anomalies	Orphanet	458827	http://www.orpha.net/ORDO/Orphanet_458827
Rare capillary malformation with associated anomalies	Rare capillary malformation with associated anomalies	Orphanet	458830	http://www.orpha.net/ORDO/Orphanet_458830
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	Orphanet	457485	http://www.orpha.net/ORDO/Orphanet_457485
Progressive myoclonic epilepsy type 9	Progressive myoclonic epilepsy type 9	Orphanet	457265	http://www.orpha.net/ORDO/Orphanet_457265
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	Orphanet	457279	http://www.orpha.net/ORDO/Orphanet_457279
Squamous cell carcinoma of the oral tongue	Squamous cell carcinoma of the oral tongue	Orphanet	457252	http://www.orpha.net/ORDO/Orphanet_457252
X-linked intellectual disability-hypotonia-movement disorder syndrome	X-linked intellectual disability-hypotonia-movement disorder syndrome	Orphanet	457260	http://www.orpha.net/ORDO/Orphanet_457260
X-linked intellectual disability-short stature-overweight syndrome	X-linked intellectual disability-short stature-overweight syndrome	Orphanet	457240	http://www.orpha.net/ORDO/Orphanet_457240
Clear cell sarcoma of kidney	Clear cell sarcoma of kidney	Orphanet	457246	http://www.orpha.net/ORDO/Orphanet_457246
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	Orphanet	457395	http://www.orpha.net/ORDO/Orphanet_457395
Multiple mitochondrial dysfunctions syndrome type 4	Multiple mitochondrial dysfunctions syndrome type 4	Orphanet	457406	http://www.orpha.net/ORDO/Orphanet_457406
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement	ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement	Orphanet	457375	http://www.orpha.net/ORDO/Orphanet_457375
Complex lethal osteochondrodysplasia	Complex lethal osteochondrodysplasia	Orphanet	457378	http://www.orpha.net/ORDO/Orphanet_457378
Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	Orphanet	457359	http://www.orpha.net/ORDO/Orphanet_457359
Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome	Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome	Orphanet	457365	http://www.orpha.net/ORDO/Orphanet_457365
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	Orphanet	457284	http://www.orpha.net/ORDO/Orphanet_457284
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	Orphanet	457351	http://www.orpha.net/ORDO/Orphanet_457351
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	Orphanet	457185	http://www.orpha.net/ORDO/Orphanet_457185
Isolated splenogonadal fusion	Isolated splenogonadal fusion	Orphanet	457083	http://www.orpha.net/ORDO/Orphanet_457083
TAFRO syndrome	TAFRO syndrome	Orphanet	457077	http://www.orpha.net/ORDO/Orphanet_457077
Actinomycosis	Actinomycosis	Orphanet	457095	http://www.orpha.net/ORDO/Orphanet_457095
Predisposition to invasive fungal disease due to CARD9 deficiency	Predisposition to invasive fungal disease due to CARD9 deficiency	Orphanet	457088	http://www.orpha.net/ORDO/Orphanet_457088
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect	Syndromic sensorineural deafness due to combined oxidative phosphorylation defect	Orphanet	457223	http://www.orpha.net/ORDO/Orphanet_457223
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	Orphanet	457212	http://www.orpha.net/ORDO/Orphanet_457212
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	Orphanet	457193	http://www.orpha.net/ORDO/Orphanet_457193
Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome	Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome	Orphanet	457205	http://www.orpha.net/ORDO/Orphanet_457205
Polyglucosan body myopathy type 2	Polyglucosan body myopathy type 2	Orphanet	456369	http://www.orpha.net/ORDO/Orphanet_456369
Pseudohypoparathyroidism with Albright hereditary osteodystrophy	Pseudohypoparathyroidism with Albright hereditary osteodystrophy	Orphanet	457059	http://www.orpha.net/ORDO/Orphanet_457059
Pseudohypoparathyroidism without Albright hereditary osteodystrophy	Pseudohypoparathyroidism without Albright hereditary osteodystrophy	Orphanet	457062	http://www.orpha.net/ORDO/Orphanet_457062
Congenital nemaline myopathy	Congenital nemaline myopathy	Orphanet	457074	http://www.orpha.net/ORDO/Orphanet_457074
Autosomal dominant mitochondrial myopathy with exercise intolerance	Autosomal dominant mitochondrial myopathy with exercise intolerance	Orphanet	457050	http://www.orpha.net/ORDO/Orphanet_457050
NON RARE IN EUROPE: Idiopathic infantile nystagmus	NON RARE IN EUROPE: Idiopathic infantile nystagmus	Orphanet	651	http://www.orpha.net/ORDO/Orphanet_651
Erythrokeratodermia variabilis	Erythrokeratodermia variabilis	Orphanet	317	http://www.orpha.net/ORDO/Orphanet_317
Short stature due to growth hormone qualitative anomaly	Short stature due to growth hormone qualitative anomaly	Orphanet	629	http://www.orpha.net/ORDO/Orphanet_629
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia	Orphanet	632	http://www.orpha.net/ORDO/Orphanet_632
Autosomal recessive hypohidrotic ectodermal dysplasia	Autosomal recessive hypohidrotic ectodermal dysplasia	Orphanet	248	http://www.orpha.net/ORDO/Orphanet_248
Autosomal dominant hypohidrotic ectodermal dysplasia	Autosomal dominant hypohidrotic ectodermal dysplasia	Orphanet	1810	http://www.orpha.net/ORDO/Orphanet_1810
Vogt-Koyanagi-Harada disease	Vogt-Koyanagi-Harada disease	Orphanet	3437	http://www.orpha.net/ORDO/Orphanet_3437
Idiopathic pulmonary fibrosis	Idiopathic pulmonary fibrosis	Orphanet	2032	http://www.orpha.net/ORDO/Orphanet_2032
Bronchiolitis obliterans with obstructive pulmonary disease	Bronchiolitis obliterans with obstructive pulmonary disease	Orphanet	1303	http://www.orpha.net/ORDO/Orphanet_1303
Tracheobronchopathia osteochondroplastica	Tracheobronchopathia osteochondroplastica	Orphanet	3348	http://www.orpha.net/ORDO/Orphanet_3348
Idiopathic chronic eosinophilic pneumonia	Idiopathic chronic eosinophilic pneumonia	Orphanet	2902	http://www.orpha.net/ORDO/Orphanet_2902
Cryptogenic organizing pneumonia	Cryptogenic organizing pneumonia	Orphanet	1302	http://www.orpha.net/ORDO/Orphanet_1302
Occipital horn syndrome	Occipital horn syndrome	Orphanet	198	http://www.orpha.net/ORDO/Orphanet_198
Familial exudative vitreoretinopathy	Familial exudative vitreoretinopathy	Orphanet	891	http://www.orpha.net/ORDO/Orphanet_891
Maternally-inherited diabetes and deafness	Maternally-inherited diabetes and deafness	Orphanet	225	http://www.orpha.net/ORDO/Orphanet_225
Scorpion envenomation	Scorpion envenomation	Orphanet	466677	http://www.orpha.net/ORDO/Orphanet_466677
Euthyroid Graves orbitopathy	Euthyroid Graves orbitopathy	Orphanet	466682	http://www.orpha.net/ORDO/Orphanet_466682
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	Orphanet	466688	http://www.orpha.net/ORDO/Orphanet_466688
Supratip dysplasia	Supratip dysplasia	Orphanet	466695	http://www.orpha.net/ORDO/Orphanet_466695
Rare disease with malignant hyperthermia	Rare disease with malignant hyperthermia	Orphanet	466658	http://www.orpha.net/ORDO/Orphanet_466658
NON RARE IN EUROPE: Colorectal cancer	NON RARE IN EUROPE: Colorectal cancer	Orphanet	466667	http://www.orpha.net/ORDO/Orphanet_466667
Cyanide poisoning	Cyanide poisoning	Orphanet	466670	http://www.orpha.net/ORDO/Orphanet_466670
NON RARE IN EUROPE: Post-herpetic neuralgia	NON RARE IN EUROPE: Post-herpetic neuralgia	Orphanet	466673	http://www.orpha.net/ORDO/Orphanet_466673
Exercise-induced malignant hyperthermia	Exercise-induced malignant hyperthermia	Orphanet	466650	http://www.orpha.net/ORDO/Orphanet_466650
SMARCA4-deficient sarcoma of thorax	SMARCA4-deficient sarcoma of thorax	Orphanet	466962	http://www.orpha.net/ORDO/Orphanet_466962
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	Orphanet	466950	http://www.orpha.net/ORDO/Orphanet_466950
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome	WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome	Orphanet	466943	http://www.orpha.net/ORDO/Orphanet_466943
Seizures-scoliosis-macrocephaly syndrome	Seizures-scoliosis-macrocephaly syndrome	Orphanet	466926	http://www.orpha.net/ORDO/Orphanet_466926
VPS11-related autosomal recessive hypomyelinating leukodystrophy	VPS11-related autosomal recessive hypomyelinating leukodystrophy	Orphanet	466934	http://www.orpha.net/ORDO/Orphanet_466934
Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome	Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome	Orphanet	466921	http://www.orpha.net/ORDO/Orphanet_466921
Autosomal dominant thrombocytopenia with platelet secretion defect	Autosomal dominant thrombocytopenia with platelet secretion defect	Orphanet	466806	http://www.orpha.net/ORDO/Orphanet_466806
LIMS2-related limb-girdle muscular dystrophy	LIMS2-related limb-girdle muscular dystrophy	Orphanet	466801	http://www.orpha.net/ORDO/Orphanet_466801
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	Orphanet	466794	http://www.orpha.net/ORDO/Orphanet_466794
Macrocephaly-intellectual disability-left ventricular non compaction syndrome	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	Orphanet	466791	http://www.orpha.net/ORDO/Orphanet_466791
Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect	Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect	Orphanet	466784	http://www.orpha.net/ORDO/Orphanet_466784
Autosomal recessive Charcot-Marie-Tooth disease type 2X	Autosomal recessive Charcot-Marie-Tooth disease type 2X	Orphanet	466775	http://www.orpha.net/ORDO/Orphanet_466775
Autosomal dominant Charcot-Marie-Tooth disease type 2Z	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	Orphanet	466768	http://www.orpha.net/ORDO/Orphanet_466768
Familial patent arterial duct	Familial patent arterial duct	Orphanet	466729	http://www.orpha.net/ORDO/Orphanet_466729
Autosomal recessive spastic paraplegia type 77	Autosomal recessive spastic paraplegia type 77	Orphanet	466722	http://www.orpha.net/ORDO/Orphanet_466722
Martinique crinkled retinal pigment epitheliopathy	Martinique crinkled retinal pigment epitheliopathy	Orphanet	466718	http://www.orpha.net/ORDO/Orphanet_466718
TMEM199-CDG	TMEM199-CDG	Orphanet	466703	http://www.orpha.net/ORDO/Orphanet_466703
Fetal encasement syndrome	Fetal encasement syndrome	Orphanet	465824	http://www.orpha.net/ORDO/Orphanet_465824
Genetic otorhinolaryngologic disease	Genetic otorhinolaryngologic disease	Orphanet	466084	http://www.orpha.net/ORDO/Orphanet_466084
Genetic hemoglobinopathy	Genetic hemoglobinopathy	Orphanet	466066	http://www.orpha.net/ORDO/Orphanet_466066
Class I glucose-6-phosphate dehydrogenase deficiency	Class I glucose-6-phosphate dehydrogenase deficiency	Orphanet	466026	http://www.orpha.net/ORDO/Orphanet_466026
Intellectual disability-epilepsy-extrapyramidal syndrome	Intellectual disability-epilepsy-extrapyramidal syndrome	Orphanet	468620	http://www.orpha.net/ORDO/Orphanet_468620
Microcephalic primordial dwarfism due to RTTN deficiency	Microcephalic primordial dwarfism due to RTTN deficiency	Orphanet	468631	http://www.orpha.net/ORDO/Orphanet_468631
Tubulinopathy-associated dysgyria	Tubulinopathy-associated dysgyria	Orphanet	467166	http://www.orpha.net/ORDO/Orphanet_467166
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome	Orphanet	467176	http://www.orpha.net/ORDO/Orphanet_467176
Cryptogenic multifocal ulcerous stenosing enteritis	Cryptogenic multifocal ulcerous stenosing enteritis	Orphanet	468635	http://www.orpha.net/ORDO/Orphanet_468635
Chronic enteropathy associated with SLCO2A1 gene	Chronic enteropathy associated with SLCO2A1 gene	Orphanet	468641	http://www.orpha.net/ORDO/Orphanet_468641
Autosomal recessive spastic paraplegia type 74	Autosomal recessive spastic paraplegia type 74	Orphanet	468661	http://www.orpha.net/ORDO/Orphanet_468661
Isolated generalized anhidrosis with normal sweat glands	Isolated generalized anhidrosis with normal sweat glands	Orphanet	468666	http://www.orpha.net/ORDO/Orphanet_468666
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Orphanet	468678	http://www.orpha.net/ORDO/Orphanet_468678
CCDC115-CDG	CCDC115-CDG	Orphanet	468684	http://www.orpha.net/ORDO/Orphanet_468684
Colobomatous macrophthalmia-microcornea syndrome	Colobomatous macrophthalmia-microcornea syndrome	Orphanet	468672	http://www.orpha.net/ORDO/Orphanet_468672
Severe primary trimethylaminuria	Severe primary trimethylaminuria	Orphanet	468726	http://www.orpha.net/ORDO/Orphanet_468726
SLC39A8-CDG	SLC39A8-CDG	Orphanet	468699	http://www.orpha.net/ORDO/Orphanet_468699
Rhizomelic chondrodysplasia punctata type 5	Rhizomelic chondrodysplasia punctata type 5	Orphanet	468717	http://www.orpha.net/ORDO/Orphanet_468717
Autosomal recessive spastic paraplegia type 62	Autosomal recessive spastic paraplegia type 62	Orphanet	401785	http://www.orpha.net/ORDO/Orphanet_401785
Autosomal recessive spastic paraplegia type 61	Autosomal recessive spastic paraplegia type 61	Orphanet	401780	http://www.orpha.net/ORDO/Orphanet_401780
Autosomal recessive spastic paraplegia type 60	Autosomal recessive spastic paraplegia type 60	Orphanet	401800	http://www.orpha.net/ORDO/Orphanet_401800
Autosomal recessive spastic paraplegia type 59	Autosomal recessive spastic paraplegia type 59	Orphanet	401795	http://www.orpha.net/ORDO/Orphanet_401795
Proximal myopathy with extrapyramidal signs	Proximal myopathy with extrapyramidal signs	Orphanet	401768	http://www.orpha.net/ORDO/Orphanet_401768
Pancytopenia-developmental delay syndrome	Pancytopenia-developmental delay syndrome	Orphanet	401764	http://www.orpha.net/ORDO/Orphanet_401764
Optic atrophy-intellectual disability syndrome	Optic atrophy-intellectual disability syndrome	Orphanet	401777	http://www.orpha.net/ORDO/Orphanet_401777
Autosomal recessive spastic paraplegia type 68	Autosomal recessive spastic paraplegia type 68	Orphanet	401825	http://www.orpha.net/ORDO/Orphanet_401825
Autosomal recessive spastic paraplegia type 69	Autosomal recessive spastic paraplegia type 69	Orphanet	401830	http://www.orpha.net/ORDO/Orphanet_401830
Autosomal recessive spastic paraplegia type 70	Autosomal recessive spastic paraplegia type 70	Orphanet	401835	http://www.orpha.net/ORDO/Orphanet_401835
Autosomal recessive spastic paraplegia type 71	Autosomal recessive spastic paraplegia type 71	Orphanet	401840	http://www.orpha.net/ORDO/Orphanet_401840
Autosomal recessive spastic paraplegia type 63	Autosomal recessive spastic paraplegia type 63	Orphanet	401805	http://www.orpha.net/ORDO/Orphanet_401805
Autosomal recessive spastic paraplegia type 64	Autosomal recessive spastic paraplegia type 64	Orphanet	401810	http://www.orpha.net/ORDO/Orphanet_401810
Autosomal recessive spastic paraplegia type 66	Autosomal recessive spastic paraplegia type 66	Orphanet	401815	http://www.orpha.net/ORDO/Orphanet_401815
Autosomal recessive spastic paraplegia type 67	Autosomal recessive spastic paraplegia type 67	Orphanet	401820	http://www.orpha.net/ORDO/Orphanet_401820
Childhood-onset spasticity with hyperglycinemia	Childhood-onset spasticity with hyperglycinemia	Orphanet	401866	http://www.orpha.net/ORDO/Orphanet_401866
Multiple mitochondrial dysfunctions syndrome type 1	Multiple mitochondrial dysfunctions syndrome type 1	Orphanet	401869	http://www.orpha.net/ORDO/Orphanet_401869
Multiple mitochondrial dysfunctions syndrome type 2	Multiple mitochondrial dysfunctions syndrome type 2	Orphanet	401874	http://www.orpha.net/ORDO/Orphanet_401874
Autosomal spastic paraplegia type 72	Autosomal spastic paraplegia type 72	Orphanet	401849	http://www.orpha.net/ORDO/Orphanet_401849
Lipoic acid biosynthesis defect	Lipoic acid biosynthesis defect	Orphanet	401854	http://www.orpha.net/ORDO/Orphanet_401854
Lipoic acid synthetase deficiency	Lipoic acid synthetase deficiency	Orphanet	401859	http://www.orpha.net/ORDO/Orphanet_401859
Lipoyl transferase 1 deficiency	Lipoyl transferase 1 deficiency	Orphanet	401862	http://www.orpha.net/ORDO/Orphanet_401862
Rare genetic female infertility	Rare genetic female infertility	Orphanet	400008	http://www.orpha.net/ORDO/Orphanet_400008
Rare genetic disorder with obstructive azoospermia	Rare genetic disorder with obstructive azoospermia	Orphanet	400003	http://www.orpha.net/ORDO/Orphanet_400003
Male infertility due to obstructive azoospermia of genetic origin	Male infertility due to obstructive azoospermia of genetic origin	Orphanet	399998	http://www.orpha.net/ORDO/Orphanet_399998
Rare male infertility due to adrenal disorder of genetic origin	Rare male infertility due to adrenal disorder of genetic origin	Orphanet	399994	http://www.orpha.net/ORDO/Orphanet_399994
Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Orphanet	399983	http://www.orpha.net/ORDO/Orphanet_399983
Rare genetic male infertility	Rare genetic male infertility	Orphanet	399980	http://www.orpha.net/ORDO/Orphanet_399980
Rare female infertility due to an implantation defect	Rare female infertility due to an implantation defect	Orphanet	399882	http://www.orpha.net/ORDO/Orphanet_399882
Rare female infertility due to gonadal dysgenesis	Rare female infertility due to gonadal dysgenesis	Orphanet	399877	http://www.orpha.net/ORDO/Orphanet_399877
Female infertility due to an implantation defect of genetic origin	Female infertility due to an implantation defect of genetic origin	Orphanet	400025	http://www.orpha.net/ORDO/Orphanet_400025
Rare female infertility due to an anomaly of ovarian function of genetic origin	Rare female infertility due to an anomaly of ovarian function of genetic origin	Orphanet	400022	http://www.orpha.net/ORDO/Orphanet_400022
Rare female infertility due to adrenal disorder of genetic origin	Rare female infertility due to adrenal disorder of genetic origin	Orphanet	400018	http://www.orpha.net/ORDO/Orphanet_400018
Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	Orphanet	400011	http://www.orpha.net/ORDO/Orphanet_400011
Hepatitis delta	Hepatitis delta	Orphanet	402823	http://www.orpha.net/ORDO/Orphanet_402823
Fibrolamellar hepatocellular carcinoma	Fibrolamellar hepatocellular carcinoma	Orphanet	401920	http://www.orpha.net/ORDO/Orphanet_401920
AXIN2-related attenuated familial adenomatous polyposis	AXIN2-related attenuated familial adenomatous polyposis	Orphanet	401911	http://www.orpha.net/ORDO/Orphanet_401911
Huntington disease-like syndrome due to C9ORF72 expansions	Huntington disease-like syndrome due to C9ORF72 expansions	Orphanet	401901	http://www.orpha.net/ORDO/Orphanet_401901
Familial median cleft of the upper and lower lips	Familial median cleft of the upper and lower lips	Orphanet	401942	http://www.orpha.net/ORDO/Orphanet_401942
14q24.1q24.3 microdeletion syndrome	14q24.1q24.3 microdeletion syndrome	Orphanet	401935	http://www.orpha.net/ORDO/Orphanet_401935
9q31.1q31.3 microdeletion syndrome	9q31.1q31.3 microdeletion syndrome	Orphanet	401923	http://www.orpha.net/ORDO/Orphanet_401923
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome	Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome	Orphanet	401959	http://www.orpha.net/ORDO/Orphanet_401959
Episodic ataxia with slurred speech	Episodic ataxia with slurred speech	Orphanet	401953	http://www.orpha.net/ORDO/Orphanet_401953
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Orphanet	401948	http://www.orpha.net/ORDO/Orphanet_401948
Moyamoya disease with early-onset achalasia	Moyamoya disease with early-onset achalasia	Orphanet	401945	http://www.orpha.net/ORDO/Orphanet_401945
1p31p32 microdeletion syndrome	1p31p32 microdeletion syndrome	Orphanet	401986	http://www.orpha.net/ORDO/Orphanet_401986
Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type	Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type	Orphanet	401979	http://www.orpha.net/ORDO/Orphanet_401979
MEND syndrome	MEND syndrome	Orphanet	401973	http://www.orpha.net/ORDO/Orphanet_401973
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons	Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons	Orphanet	401964	http://www.orpha.net/ORDO/Orphanet_401964
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering	Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering	Orphanet	402003	http://www.orpha.net/ORDO/Orphanet_402003
Lichen myxedematosus	Lichen myxedematosus	Orphanet	402007	http://www.orpha.net/ORDO/Orphanet_402007
Cold-induced sweating syndrome-hyperthermia spectrum	Cold-induced sweating syndrome-hyperthermia spectrum	Orphanet	401993	http://www.orpha.net/ORDO/Orphanet_401993
Karyomegalic interstitial nephritis	Karyomegalic interstitial nephritis	Orphanet	401996	http://www.orpha.net/ORDO/Orphanet_401996
Acute myeloid leukemia with t(9;11)(p22;q23)	Acute myeloid leukemia with t(9;11)(p22;q23)	Orphanet	402017	http://www.orpha.net/ORDO/Orphanet_402017
Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)	Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)	Orphanet	402020	http://www.orpha.net/ORDO/Orphanet_402020
Acute myeloid leukemia with t(6;9)(p23;q34)	Acute myeloid leukemia with t(6;9)(p23;q34)	Orphanet	402014	http://www.orpha.net/ORDO/Orphanet_402014
Primary eosinophilic gastrointestinal disease	Primary eosinophilic gastrointestinal disease	Orphanet	402029	http://www.orpha.net/ORDO/Orphanet_402029
Eosinophilic colitis	Eosinophilic colitis	Orphanet	402035	http://www.orpha.net/ORDO/Orphanet_402035
Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)	Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)	Orphanet	402023	http://www.orpha.net/ORDO/Orphanet_402023
Acute myeloid leukemia with NPM1 somatic mutations	Acute myeloid leukemia with NPM1 somatic mutations	Orphanet	402026	http://www.orpha.net/ORDO/Orphanet_402026
Progressive myoclonic epilepsy type 5	Progressive myoclonic epilepsy type 5	Orphanet	402082	http://www.orpha.net/ORDO/Orphanet_402082
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Orphanet	402364	http://www.orpha.net/ORDO/Orphanet_402364
Autosomal recessive distal renal tubular acidosis	Autosomal recessive distal renal tubular acidosis	Orphanet	402041	http://www.orpha.net/ORDO/Orphanet_402041
Familial bicuspid aortic valve	Familial bicuspid aortic valve	Orphanet	402075	http://www.orpha.net/ORDO/Orphanet_402075
Scott syndrome	Scott syndrome	Orphanet	806	http://www.orpha.net/ORDO/Orphanet_806
Polyarticular juvenile idiopathic arthritis	Polyarticular juvenile idiopathic arthritis	Orphanet	404580	http://www.orpha.net/ORDO/Orphanet_404580
Rare genetic bone development disorder	Rare genetic bone development disorder	Orphanet	404584	http://www.orpha.net/ORDO/Orphanet_404584
Rare female infertility due to oocyte maturation defect	Rare female infertility due to oocyte maturation defect	Orphanet	404469	http://www.orpha.net/ORDO/Orphanet_404469
Severe intellectual disability-progressive spastic diplegia syndrome	Severe intellectual disability-progressive spastic diplegia syndrome	Orphanet	404473	http://www.orpha.net/ORDO/Orphanet_404473
Multisystemic smooth muscle dysfunction syndrome	Multisystemic smooth muscle dysfunction syndrome	Orphanet	404463	http://www.orpha.net/ORDO/Orphanet_404463
Female infertility due to zona pellucida defect	Female infertility due to zona pellucida defect	Orphanet	404466	http://www.orpha.net/ORDO/Orphanet_404466
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	Orphanet	404451	http://www.orpha.net/ORDO/Orphanet_404451
Alacrimia-choreoathetosis-liver dysfunction syndrome	Alacrimia-choreoathetosis-liver dysfunction syndrome	Orphanet	404454	http://www.orpha.net/ORDO/Orphanet_404454
Tall stature-intellectual disability-facial dysmorphism syndrome	Tall stature-intellectual disability-facial dysmorphism syndrome	Orphanet	404443	http://www.orpha.net/ORDO/Orphanet_404443
ADNP syndrome	ADNP syndrome	Orphanet	404448	http://www.orpha.net/ORDO/Orphanet_404448
Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome	Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome	Orphanet	404437	http://www.orpha.net/ORDO/Orphanet_404437
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	Orphanet	404440	http://www.orpha.net/ORDO/Orphanet_404440
Genetic syndrome with limb malformations as a major feature	Genetic syndrome with limb malformations as a major feature	Orphanet	404577	http://www.orpha.net/ORDO/Orphanet_404577
Genetic syndrome with limb reduction defects	Genetic syndrome with limb reduction defects	Orphanet	404574	http://www.orpha.net/ORDO/Orphanet_404574
Dysostosis of genetic origin with limb anomaly as a major feature	Dysostosis of genetic origin with limb anomaly as a major feature	Orphanet	404571	http://www.orpha.net/ORDO/Orphanet_404571
Dysostosis of genetic origin	Dysostosis of genetic origin	Orphanet	404568	http://www.orpha.net/ORDO/Orphanet_404568
Familial atypical multiple mole melanoma syndrome	Familial atypical multiple mole melanoma syndrome	Orphanet	404560	http://www.orpha.net/ORDO/Orphanet_404560
Vasculitis due to ADA2 deficiency	Vasculitis due to ADA2 deficiency	Orphanet	404553	http://www.orpha.net/ORDO/Orphanet_404553
DITRA	DITRA	Orphanet	404546	http://www.orpha.net/ORDO/Orphanet_404546
X-linked distal hereditary motor neuropathy	X-linked distal hereditary motor neuropathy	Orphanet	404538	http://www.orpha.net/ORDO/Orphanet_404538
Spinal muscular atrophy with respiratory distress type 2	Spinal muscular atrophy with respiratory distress type 2	Orphanet	404521	http://www.orpha.net/ORDO/Orphanet_404521
Acquired cystic disease-associated renal cell carcinoma	Acquired cystic disease-associated renal cell carcinoma	Orphanet	404514	http://www.orpha.net/ORDO/Orphanet_404514
Clear cell papillary renal cell carcinoma	Clear cell papillary renal cell carcinoma	Orphanet	404511	http://www.orpha.net/ORDO/Orphanet_404511
Chondromyxoid fibroma	Chondromyxoid fibroma	Orphanet	404507	http://www.orpha.net/ORDO/Orphanet_404507
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency	Orphanet	404499	http://www.orpha.net/ORDO/Orphanet_404499
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency	Orphanet	404493	http://www.orpha.net/ORDO/Orphanet_404493
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome	Orphanet	404481	http://www.orpha.net/ORDO/Orphanet_404481
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome	Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome	Orphanet	404476	http://www.orpha.net/ORDO/Orphanet_404476
Central retinal vein occlusion	Central retinal vein occlusion	Orphanet	411527	http://www.orpha.net/ORDO/Orphanet_411527
NON RARE IN EUROPE: Melanoma	NON RARE IN EUROPE: Melanoma	Orphanet	411533	http://www.orpha.net/ORDO/Orphanet_411533
Mild phosphoribosylpyrophosphate synthetase superactivity	Mild phosphoribosylpyrophosphate synthetase superactivity	Orphanet	411536	http://www.orpha.net/ORDO/Orphanet_411536
Severe phosphoribosylpyrophosphate synthetase superactivity	Severe phosphoribosylpyrophosphate synthetase superactivity	Orphanet	411543	http://www.orpha.net/ORDO/Orphanet_411543
Wolfram-like syndrome	Wolfram-like syndrome	Orphanet	411590	http://www.orpha.net/ORDO/Orphanet_411590
Insulin autoimmune syndrome	Insulin autoimmune syndrome	Orphanet	411593	http://www.orpha.net/ORDO/Orphanet_411593
Hereditary late-onset Parkinson disease	Hereditary late-onset Parkinson disease	Orphanet	411602	http://www.orpha.net/ORDO/Orphanet_411602
Nephropathic infantile cystinosis	Nephropathic infantile cystinosis	Orphanet	411629	http://www.orpha.net/ORDO/Orphanet_411629
Pontocerebellar hypoplasia type 10	Pontocerebellar hypoplasia type 10	Orphanet	411493	http://www.orpha.net/ORDO/Orphanet_411493
Williams-Campbell syndrome	Williams-Campbell syndrome	Orphanet	411501	http://www.orpha.net/ORDO/Orphanet_411501
Angelman syndrome due to a point mutation	Angelman syndrome due to a point mutation	Orphanet	411511	http://www.orpha.net/ORDO/Orphanet_411511
Angelman syndrome due to imprinting defect in 15q11-q13	Angelman syndrome due to imprinting defect in 15q11-q13	Orphanet	411515	http://www.orpha.net/ORDO/Orphanet_411515
Generalized eruptive keratoacanthoma	Generalized eruptive keratoacanthoma	Orphanet	411777	http://www.orpha.net/ORDO/Orphanet_411777
Maternal riboflavin deficiency	Maternal riboflavin deficiency	Orphanet	411712	http://www.orpha.net/ORDO/Orphanet_411712
Familial isolated trichomegaly	Familial isolated trichomegaly	Orphanet	411788	http://www.orpha.net/ORDO/Orphanet_411788
Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	Orphanet	411986	http://www.orpha.net/ORDO/Orphanet_411986
NON RARE IN EUROPE: Metabolic syndrome	NON RARE IN EUROPE: Metabolic syndrome	Orphanet	411969	http://www.orpha.net/ORDO/Orphanet_411969
13q12.3 microdeletion syndrome	13q12.3 microdeletion syndrome	Orphanet	412035	http://www.orpha.net/ORDO/Orphanet_412035
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome	Orphanet	412022	http://www.orpha.net/ORDO/Orphanet_412022
Ocular cystinosis	Ocular cystinosis	Orphanet	411641	http://www.orpha.net/ORDO/Orphanet_411641
Juvenile nephropathic cystinosis	Juvenile nephropathic cystinosis	Orphanet	411634	http://www.orpha.net/ORDO/Orphanet_411634
Proton-pump inhibitor-responsive esophageal eosinophilia	Proton-pump inhibitor-responsive esophageal eosinophilia	Orphanet	411696	http://www.orpha.net/ORDO/Orphanet_411696
Renal agenesis	Renal agenesis	Orphanet	411709	http://www.orpha.net/ORDO/Orphanet_411709
Pulmonary non-tuberculous mycobacterial infection	Pulmonary non-tuberculous mycobacterial infection	Orphanet	411703	http://www.orpha.net/ORDO/Orphanet_411703
Generalized isolated dystonia	Generalized isolated dystonia	Orphanet	376724	http://www.orpha.net/ORDO/Orphanet_376724
Genetic syndromic esophageal malformation	Genetic syndromic esophageal malformation	Orphanet	371445	http://www.orpha.net/ORDO/Orphanet_371445
Genetic hyperaldosteronism	Genetic hyperaldosteronism	Orphanet	371861	http://www.orpha.net/ORDO/Orphanet_371861
Congenital disorder of glycosylation with developmental anomaly	Congenital disorder of glycosylation with developmental anomaly	Orphanet	371235	http://www.orpha.net/ORDO/Orphanet_371235
Congenital disorder of glycosylation with nephropathy as a major feature	Congenital disorder of glycosylation with nephropathy as a major feature	Orphanet	371207	http://www.orpha.net/ORDO/Orphanet_371207
Congenital disorder of glycosylation with skin involvement	Congenital disorder of glycosylation with skin involvement	Orphanet	371200	http://www.orpha.net/ORDO/Orphanet_371200
Congenital disorder of glycosylation with deafness as a major feature	Congenital disorder of glycosylation with deafness as a major feature	Orphanet	371212	http://www.orpha.net/ORDO/Orphanet_371212
Genetic neurovascular malformation	Genetic neurovascular malformation	Orphanet	371436	http://www.orpha.net/ORDO/Orphanet_371436
Genetic periodic paralysis	Genetic periodic paralysis	Orphanet	371433	http://www.orpha.net/ORDO/Orphanet_371433
Sphingolipidosis with epilepsy	Sphingolipidosis with epilepsy	Orphanet	371442	http://www.orpha.net/ORDO/Orphanet_371442
Multicentric osteolysis-nodulosis-arthropathy spectrum	Multicentric osteolysis-nodulosis-arthropathy spectrum	Orphanet	371428	http://www.orpha.net/ORDO/Orphanet_371428
Hypotonia-speech impairment-severe cognitive delay syndrome	Hypotonia-speech impairment-severe cognitive delay syndrome	Orphanet	371364	http://www.orpha.net/ORDO/Orphanet_371364
Persistent combined dystonia	Persistent combined dystonia	Orphanet	391711	http://www.orpha.net/ORDO/Orphanet_391711
Necrotizing enterocolitis	Necrotizing enterocolitis	Orphanet	391673	http://www.orpha.net/ORDO/Orphanet_391673
Short stature-optic atrophy-Pelger-Huët anomaly syndrome	Short stature-optic atrophy-Pelger-Huët anomaly syndrome	Orphanet	391677	http://www.orpha.net/ORDO/Orphanet_391677
Mucinous adenocarcinoma of the appendix	Mucinous adenocarcinoma of the appendix	Orphanet	391723	http://www.orpha.net/ORDO/Orphanet_391723
Rare genetic dystonia	Rare genetic dystonia	Orphanet	391799	http://www.orpha.net/ORDO/Orphanet_391799
Frontorhiny	Frontorhiny	Orphanet	391474	http://www.orpha.net/ORDO/Orphanet_391474
Transient neonatal myasthenia gravis	Transient neonatal myasthenia gravis	Orphanet	391504	http://www.orpha.net/ORDO/Orphanet_391504
Juvenile myasthenia gravis	Juvenile myasthenia gravis	Orphanet	391497	http://www.orpha.net/ORDO/Orphanet_391497
Adult-onset myasthenia gravis	Adult-onset myasthenia gravis	Orphanet	391490	http://www.orpha.net/ORDO/Orphanet_391490
Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	Orphanet	391487	http://www.orpha.net/ORDO/Orphanet_391487
Feingold syndrome type 2	Feingold syndrome type 2	Orphanet	391646	http://www.orpha.net/ORDO/Orphanet_391646
Feingold syndrome type 1	Feingold syndrome type 1	Orphanet	391641	http://www.orpha.net/ORDO/Orphanet_391641
Homozygous familial hypercholesterolemia	Homozygous familial hypercholesterolemia	Orphanet	391665	http://www.orpha.net/ORDO/Orphanet_391665
Off-periods in Parkinson disease not responding to oral treatment	Off-periods in Parkinson disease not responding to oral treatment	Orphanet	391655	http://www.orpha.net/ORDO/Orphanet_391655
Glomus tumor	Glomus tumor	Orphanet	391651	http://www.orpha.net/ORDO/Orphanet_391651
Fatal post-viral neurodegenerative disorder	Fatal post-viral neurodegenerative disorder	Orphanet	391343	http://www.orpha.net/ORDO/Orphanet_391343
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome	Orphanet	391348	http://www.orpha.net/ORDO/Orphanet_391348
SURF1-related Charcot-Marie-Tooth disease type 4	SURF1-related Charcot-Marie-Tooth disease type 4	Orphanet	391351	http://www.orpha.net/ORDO/Orphanet_391351
Growth retardation-mild developmental delay-chronic hepatitis syndrome	Growth retardation-mild developmental delay-chronic hepatitis syndrome	Orphanet	391366	http://www.orpha.net/ORDO/Orphanet_391366
Intellectual disability-severe speech delay-mild dysmorphism syndrome	Intellectual disability-severe speech delay-mild dysmorphism syndrome	Orphanet	391372	http://www.orpha.net/ORDO/Orphanet_391372
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome	Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome	Orphanet	391376	http://www.orpha.net/ORDO/Orphanet_391376
Disorder of asparagine metabolism	Disorder of asparagine metabolism	Orphanet	391381	http://www.orpha.net/ORDO/Orphanet_391381
Familial episodic pain syndrome	Familial episodic pain syndrome	Orphanet	391384	http://www.orpha.net/ORDO/Orphanet_391384
Familial episodic pain syndrome with predominantly upper body involvement	Familial episodic pain syndrome with predominantly upper body involvement	Orphanet	391389	http://www.orpha.net/ORDO/Orphanet_391389
Familial episodic pain syndrome with predominantly lower limb involvement	Familial episodic pain syndrome with predominantly lower limb involvement	Orphanet	391392	http://www.orpha.net/ORDO/Orphanet_391392
Hereditary sensory and autonomic neuropathy type 7	Hereditary sensory and autonomic neuropathy type 7	Orphanet	391397	http://www.orpha.net/ORDO/Orphanet_391397
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	Orphanet	391408	http://www.orpha.net/ORDO/Orphanet_391408
Atypical juvenile parkinsonism	Atypical juvenile parkinsonism	Orphanet	391411	http://www.orpha.net/ORDO/Orphanet_391411
HSD10 disease	HSD10 disease	Orphanet	391417	http://www.orpha.net/ORDO/Orphanet_391417
HSD10 disease, infantile type	HSD10 disease, infantile type	Orphanet	391428	http://www.orpha.net/ORDO/Orphanet_391428
HSD10 disease, neonatal type	HSD10 disease, neonatal type	Orphanet	391457	http://www.orpha.net/ORDO/Orphanet_391457
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	Orphanet	391307	http://www.orpha.net/ORDO/Orphanet_391307
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression	Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression	Orphanet	391316	http://www.orpha.net/ORDO/Orphanet_391316
Susceptibility to viral and mycobacterial infections due to STAT1 deficiency	Susceptibility to viral and mycobacterial infections due to STAT1 deficiency	Orphanet	391311	http://www.orpha.net/ORDO/Orphanet_391311
X-linked calvarial hyperostosis	X-linked calvarial hyperostosis	Orphanet	391327	http://www.orpha.net/ORDO/Orphanet_391327
East Texas bleeding disorder	East Texas bleeding disorder	Orphanet	391320	http://www.orpha.net/ORDO/Orphanet_391320
X-linked osteoporosis with fractures	X-linked osteoporosis with fractures	Orphanet	391330	http://www.orpha.net/ORDO/Orphanet_391330
Refractory celiac disease	Refractory celiac disease	Orphanet	398063	http://www.orpha.net/ORDO/Orphanet_398063
Squamous cell carcinoma of the penis	Squamous cell carcinoma of the penis	Orphanet	398058	http://www.orpha.net/ORDO/Orphanet_398058
Adenocarcinoma of the penis	Adenocarcinoma of the penis	Orphanet	398053	http://www.orpha.net/ORDO/Orphanet_398053
Malignant tumor of penis	Malignant tumor of penis	Orphanet	398043	http://www.orpha.net/ORDO/Orphanet_398043
Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	Orphanet	397973	http://www.orpha.net/ORDO/Orphanet_397973
Charcot-Marie-Tooth disease type 2R	Charcot-Marie-Tooth disease type 2R	Orphanet	397968	http://www.orpha.net/ORDO/Orphanet_397968
Combined immunodeficiency due to MALT1 deficiency	Combined immunodeficiency due to MALT1 deficiency	Orphanet	397964	http://www.orpha.net/ORDO/Orphanet_397964
TCR-alpha-beta-positive T-cell deficiency	TCR-alpha-beta-positive T-cell deficiency	Orphanet	397959	http://www.orpha.net/ORDO/Orphanet_397959
Microcephaly-thin corpus callosum-intellectual disability syndrome	Microcephaly-thin corpus callosum-intellectual disability syndrome	Orphanet	397951	http://www.orpha.net/ORDO/Orphanet_397951
Autosomal spastic paraplegia type 58	Autosomal spastic paraplegia type 58	Orphanet	397946	http://www.orpha.net/ORDO/Orphanet_397946
MAN1B1-CDG	MAN1B1-CDG	Orphanet	397941	http://www.orpha.net/ORDO/Orphanet_397941
Polyglucosan body myopathy type 1	Polyglucosan body myopathy type 1	Orphanet	397937	http://www.orpha.net/ORDO/Orphanet_397937
Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome	Orphanet	397933	http://www.orpha.net/ORDO/Orphanet_397933
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome	Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome	Orphanet	397927	http://www.orpha.net/ORDO/Orphanet_397927
Ferro-cerebro-cutaneous syndrome	Ferro-cerebro-cutaneous syndrome	Orphanet	397922	http://www.orpha.net/ORDO/Orphanet_397922
Severe combined immunodeficiency due to IKK2 deficiency	Severe combined immunodeficiency due to IKK2 deficiency	Orphanet	397787	http://www.orpha.net/ORDO/Orphanet_397787
T+ B+ severe combined immunodeficiency	T+ B+ severe combined immunodeficiency	Orphanet	397802	http://www.orpha.net/ORDO/Orphanet_397802
Periodic paralysis with transient compartment-like syndrome	Periodic paralysis with transient compartment-like syndrome	Orphanet	397755	http://www.orpha.net/ORDO/Orphanet_397755
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies	Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies	Orphanet	397758	http://www.orpha.net/ORDO/Orphanet_397758
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	Orphanet	397744	http://www.orpha.net/ORDO/Orphanet_397744
Periodic paralysis with later-onset distal motor neuropathy	Periodic paralysis with later-onset distal motor neuropathy	Orphanet	397750	http://www.orpha.net/ORDO/Orphanet_397750
COASY protein-associated neurodegeneration	COASY protein-associated neurodegeneration	Orphanet	397725	http://www.orpha.net/ORDO/Orphanet_397725
Autosomal dominant Charcot-Marie-Tooth disease type 2U	Autosomal dominant Charcot-Marie-Tooth disease type 2U	Orphanet	397735	http://www.orpha.net/ORDO/Orphanet_397735
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	Orphanet	397709	http://www.orpha.net/ORDO/Orphanet_397709
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Orphanet	397715	http://www.orpha.net/ORDO/Orphanet_397715
Hereditary isolated aplastic anemia	Hereditary isolated aplastic anemia	Orphanet	397692	http://www.orpha.net/ORDO/Orphanet_397692
3q27.3 microdeletion syndrome	3q27.3 microdeletion syndrome	Orphanet	397695	http://www.orpha.net/ORDO/Orphanet_397695
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome	Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome	Orphanet	397623	http://www.orpha.net/ORDO/Orphanet_397623
Familial hyperprolactinemia	Familial hyperprolactinemia	Orphanet	397685	http://www.orpha.net/ORDO/Orphanet_397685
Obesity due to CEP19 deficiency	Obesity due to CEP19 deficiency	Orphanet	397615	http://www.orpha.net/ORDO/Orphanet_397615
Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome	Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome	Orphanet	397618	http://www.orpha.net/ORDO/Orphanet_397618
Activated PI3K-delta syndrome	Activated PI3K-delta syndrome	Orphanet	397596	http://www.orpha.net/ORDO/Orphanet_397596
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency	Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency	Orphanet	397593	http://www.orpha.net/ORDO/Orphanet_397593
Macrocephaly-developmental delay syndrome	Macrocephaly-developmental delay syndrome	Orphanet	397612	http://www.orpha.net/ORDO/Orphanet_397612
PrP systemic amyloidosis	PrP systemic amyloidosis	Orphanet	397606	http://www.orpha.net/ORDO/Orphanet_397606
Silver-Russell syndrome due to a point mutation	Silver-Russell syndrome due to a point mutation	Orphanet	397590	http://www.orpha.net/ORDO/Orphanet_397590
Deep dermatophytosis	Deep dermatophytosis	Orphanet	397587	http://www.orpha.net/ORDO/Orphanet_397587
Multiple acyl-CoA dehydrogenase deficiency, mild type	Multiple acyl-CoA dehydrogenase deficiency, mild type	Orphanet	394532	http://www.orpha.net/ORDO/Orphanet_394532
Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type	Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type	Orphanet	394529	http://www.orpha.net/ORDO/Orphanet_394529
Rare female infertility due to a congenital hypogonadotropic hypogonadism	Rare female infertility due to a congenital hypogonadotropic hypogonadism	Orphanet	399839	http://www.orpha.net/ORDO/Orphanet_399839
Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder	Orphanet	399831	http://www.orpha.net/ORDO/Orphanet_399831
Rare disorder with obstructive azoospermia	Rare disorder with obstructive azoospermia	Orphanet	399824	http://www.orpha.net/ORDO/Orphanet_399824
Male infertility due to sperm motility disorder	Male infertility due to sperm motility disorder	Orphanet	399813	http://www.orpha.net/ORDO/Orphanet_399813
Rare female infertility due to an anomaly of ovarian function	Rare female infertility due to an anomaly of ovarian function	Orphanet	399853	http://www.orpha.net/ORDO/Orphanet_399853
Rare female infertility due to an adrenal disorder	Rare female infertility due to an adrenal disorder	Orphanet	399849	http://www.orpha.net/ORDO/Orphanet_399849
Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism	Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism	Orphanet	399846	http://www.orpha.net/ORDO/Orphanet_399846
Male infertility due to sperm disorder	Male infertility due to sperm disorder	Orphanet	399771	http://www.orpha.net/ORDO/Orphanet_399771
Male infertility due to gonadal dysgenesis or sperm disorder	Male infertility due to gonadal dysgenesis or sperm disorder	Orphanet	399764	http://www.orpha.net/ORDO/Orphanet_399764
Rare male infertility due to testicular endocrine disorder	Rare male infertility due to testicular endocrine disorder	Orphanet	399685	http://www.orpha.net/ORDO/Orphanet_399685
Rare male infertility due to adrenal disorder	Rare male infertility due to adrenal disorder	Orphanet	399584	http://www.orpha.net/ORDO/Orphanet_399584
Male infertility with teratozoospermia due to single gene mutation	Male infertility with teratozoospermia due to single gene mutation	Orphanet	399808	http://www.orpha.net/ORDO/Orphanet_399808
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Orphanet	399805	http://www.orpha.net/ORDO/Orphanet_399805
Male infertility with spermatogenesis disorder due to single gene mutation	Male infertility with spermatogenesis disorder due to single gene mutation	Orphanet	399786	http://www.orpha.net/ORDO/Orphanet_399786
Male infertility with spermatogenesis disorder	Male infertility with spermatogenesis disorder	Orphanet	399775	http://www.orpha.net/ORDO/Orphanet_399775
Epiphysiolysis of the hip	Epiphysiolysis of the hip	Orphanet	399329	http://www.orpha.net/ORDO/Orphanet_399329
Osteochondrosis of genetic origin	Osteochondrosis of genetic origin	Orphanet	399391	http://www.orpha.net/ORDO/Orphanet_399391
Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder	Orphanet	399572	http://www.orpha.net/ORDO/Orphanet_399572
Osteonecrosis of genetic origin	Osteonecrosis of genetic origin	Orphanet	399380	http://www.orpha.net/ORDO/Orphanet_399380
Avascular necrosis of genetic origin	Avascular necrosis of genetic origin	Orphanet	399388	http://www.orpha.net/ORDO/Orphanet_399388
Secondary non-traumatic avascular necrosis	Secondary non-traumatic avascular necrosis	Orphanet	399180	http://www.orpha.net/ORDO/Orphanet_399180
Rare hereditary disease with avascular necrosis	Rare hereditary disease with avascular necrosis	Orphanet	399185	http://www.orpha.net/ORDO/Orphanet_399185
Secondary avascular necrosis	Secondary avascular necrosis	Orphanet	399169	http://www.orpha.net/ORDO/Orphanet_399169
Traumatic avascular necrosis	Traumatic avascular necrosis	Orphanet	399175	http://www.orpha.net/ORDO/Orphanet_399175
Idiopathic avascular necrosis	Idiopathic avascular necrosis	Orphanet	399307	http://www.orpha.net/ORDO/Orphanet_399307
Osteochondrosis	Osteochondrosis	Orphanet	399319	http://www.orpha.net/ORDO/Orphanet_399319
Osteonecrosis of the jaw	Osteonecrosis of the jaw	Orphanet	399293	http://www.orpha.net/ORDO/Orphanet_399293
Primary avascular necrosis	Primary avascular necrosis	Orphanet	399302	http://www.orpha.net/ORDO/Orphanet_399302
Alpha-B crystallin-related late-onset myopathy	Alpha-B crystallin-related late-onset myopathy	Orphanet	399058	http://www.orpha.net/ORDO/Orphanet_399058
Malignant teratoma of ovary	Malignant teratoma of ovary	Orphanet	398987	http://www.orpha.net/ORDO/Orphanet_398987
Finnish upper limb-onset distal myopathy	Finnish upper limb-onset distal myopathy	Orphanet	399086	http://www.orpha.net/ORDO/Orphanet_399086
KLHL9-related early-onset distal myopathy	KLHL9-related early-onset distal myopathy	Orphanet	399081	http://www.orpha.net/ORDO/Orphanet_399081
Distal nebulin myopathy	Distal nebulin myopathy	Orphanet	399103	http://www.orpha.net/ORDO/Orphanet_399103
Distal anoctaminopathy	Distal anoctaminopathy	Orphanet	399096	http://www.orpha.net/ORDO/Orphanet_399096
Avascular necrosis	Avascular necrosis	Orphanet	399164	http://www.orpha.net/ORDO/Orphanet_399164
Osteonecrosis	Osteonecrosis	Orphanet	399158	http://www.orpha.net/ORDO/Orphanet_399158
Malignant epithelial tumor of ovary	Malignant epithelial tumor of ovary	Orphanet	398934	http://www.orpha.net/ORDO/Orphanet_398934
Mucinous adenocarcinoma of ovary	Mucinous adenocarcinoma of ovary	Orphanet	398961	http://www.orpha.net/ORDO/Orphanet_398961
Malignant non-epithelial tumor of ovary	Malignant non-epithelial tumor of ovary	Orphanet	398940	http://www.orpha.net/ORDO/Orphanet_398940
Primary peritoneal serous/papillary carcinoma	Primary peritoneal serous/papillary carcinoma	Orphanet	398980	http://www.orpha.net/ORDO/Orphanet_398980
Clear cell adenocarcinoma of the ovary	Clear cell adenocarcinoma of the ovary	Orphanet	398971	http://www.orpha.net/ORDO/Orphanet_398971
Neonatal lupus erythematosus	Neonatal lupus erythematosus	Orphanet	398124	http://www.orpha.net/ORDO/Orphanet_398124
Neonatal scleroderma	Neonatal scleroderma	Orphanet	398127	http://www.orpha.net/ORDO/Orphanet_398127
Persistent idiopathic facial pain	Persistent idiopathic facial pain	Orphanet	398147	http://www.orpha.net/ORDO/Orphanet_398147
Oculoauriculofrontonasal syndrome	Oculoauriculofrontonasal syndrome	Orphanet	398156	http://www.orpha.net/ORDO/Orphanet_398156
Focal facial dermal dysplasia	Focal facial dermal dysplasia	Orphanet	398166	http://www.orpha.net/ORDO/Orphanet_398166
Focal facial dermal dysplasia type II	Focal facial dermal dysplasia type II	Orphanet	398173	http://www.orpha.net/ORDO/Orphanet_398173
Focal facial dermal dysplasia type IV	Focal facial dermal dysplasia type IV	Orphanet	398189	http://www.orpha.net/ORDO/Orphanet_398189
MAGEL2-related Prader-Willi-like syndrome	MAGEL2-related Prader-Willi-like syndrome	Orphanet	398069	http://www.orpha.net/ORDO/Orphanet_398069
Prader-Willi-like syndrome	Prader-Willi-like syndrome	Orphanet	398073	http://www.orpha.net/ORDO/Orphanet_398073
SIM1-related Prader-Willi-like syndrome	SIM1-related Prader-Willi-like syndrome	Orphanet	398079	http://www.orpha.net/ORDO/Orphanet_398079
Hereditary cryohydrocytosis with normal stomatin	Hereditary cryohydrocytosis with normal stomatin	Orphanet	398088	http://www.orpha.net/ORDO/Orphanet_398088
Secondary neonatal autoimmune disease	Secondary neonatal autoimmune disease	Orphanet	398091	http://www.orpha.net/ORDO/Orphanet_398091
Neonatal antiphospholipid syndrome	Neonatal antiphospholipid syndrome	Orphanet	398097	http://www.orpha.net/ORDO/Orphanet_398097
Neonatal autoimmune hemolytic anemia	Neonatal autoimmune hemolytic anemia	Orphanet	398109	http://www.orpha.net/ORDO/Orphanet_398109
Neonatal dermatomyositis	Neonatal dermatomyositis	Orphanet	398117	http://www.orpha.net/ORDO/Orphanet_398117
Genetic precocious puberty in female	Genetic precocious puberty in female	Orphanet	435564	http://www.orpha.net/ORDO/Orphanet_435564
Precocious puberty in female	Precocious puberty in female	Orphanet	435561	http://www.orpha.net/ORDO/Orphanet_435561
Genetic precocious puberty	Genetic precocious puberty	Orphanet	435554	http://www.orpha.net/ORDO/Orphanet_435554
Genetic larynx anomaly	Genetic larynx anomaly	Orphanet	435609	http://www.orpha.net/ORDO/Orphanet_435609
Genetic nose and cavum anomaly	Genetic nose and cavum anomaly	Orphanet	435606	http://www.orpha.net/ORDO/Orphanet_435606
Genetic otorhinolaryngological malformation	Genetic otorhinolaryngological malformation	Orphanet	435603	http://www.orpha.net/ORDO/Orphanet_435603
Keppen-Lubinsky syndrome	Keppen-Lubinsky syndrome	Orphanet	435628	http://www.orpha.net/ORDO/Orphanet_435628
Genetic tracheal anomaly	Genetic tracheal anomaly	Orphanet	435612	http://www.orpha.net/ORDO/Orphanet_435612
Congenital urachal anomaly	Congenital urachal anomaly	Orphanet	435743	http://www.orpha.net/ORDO/Orphanet_435743
LIPE-related familial partial lipodystrophy	LIPE-related familial partial lipodystrophy	Orphanet	435660	http://www.orpha.net/ORDO/Orphanet_435660
CIDEC-related familial partial lipodystrophy	CIDEC-related familial partial lipodystrophy	Orphanet	435651	http://www.orpha.net/ORDO/Orphanet_435651
3p25.3 microdeletion syndrome	3p25.3 microdeletion syndrome	Orphanet	435638	http://www.orpha.net/ORDO/Orphanet_435638
Short stature-advanced bone age-early-onset osteoarthritis syndrome	Short stature-advanced bone age-early-onset osteoarthritis syndrome	Orphanet	435804	http://www.orpha.net/ORDO/Orphanet_435804
Lethal neonatal spasticity-epileptic encephalopathy syndrome	Lethal neonatal spasticity-epileptic encephalopathy syndrome	Orphanet	435845	http://www.orpha.net/ORDO/Orphanet_435845
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome	Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome	Orphanet	435930	http://www.orpha.net/ORDO/Orphanet_435930
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation	Orphanet	435819	http://www.orpha.net/ORDO/Orphanet_435819
Progeroid features-hepatocellular carcinoma predisposition syndrome	Progeroid features-hepatocellular carcinoma predisposition syndrome	Orphanet	435953	http://www.orpha.net/ORDO/Orphanet_435953
Chronic atrial and intestinal dysrhythmia syndrome	Chronic atrial and intestinal dysrhythmia syndrome	Orphanet	435988	http://www.orpha.net/ORDO/Orphanet_435988
COG2-CDG	COG2-CDG	Orphanet	435934	http://www.orpha.net/ORDO/Orphanet_435934
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	Orphanet	435938	http://www.orpha.net/ORDO/Orphanet_435938
Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome	Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome	Orphanet	436141	http://www.orpha.net/ORDO/Orphanet_436141
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome	Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome	Orphanet	436144	http://www.orpha.net/ORDO/Orphanet_436144
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D	Autosomal recessive intermediate Charcot-Marie-Tooth disease type D	Orphanet	435998	http://www.orpha.net/ORDO/Orphanet_435998
Contractures-developmental delay-Pierre Robin syndrome	Contractures-developmental delay-Pierre Robin syndrome	Orphanet	436003	http://www.orpha.net/ORDO/Orphanet_436003
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	Orphanet	436159	http://www.orpha.net/ORDO/Orphanet_436159
Intellectual disability-expressive aphasia-facial dysmorphism syndrome	Intellectual disability-expressive aphasia-facial dysmorphism syndrome	Orphanet	436151	http://www.orpha.net/ORDO/Orphanet_436151
Thrombomodulin-related bleeding disorder	Thrombomodulin-related bleeding disorder	Orphanet	436169	http://www.orpha.net/ORDO/Orphanet_436169
Periodic fever-infantile enterocolitis-autoinflammatory syndrome	Periodic fever-infantile enterocolitis-autoinflammatory syndrome	Orphanet	436166	http://www.orpha.net/ORDO/Orphanet_436166
Microcephalic primordial dwarfism-insulin resistance syndrome	Microcephalic primordial dwarfism-insulin resistance syndrome	Orphanet	436182	http://www.orpha.net/ORDO/Orphanet_436182
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	Orphanet	436174	http://www.orpha.net/ORDO/Orphanet_436174
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	Orphanet	436245	http://www.orpha.net/ORDO/Orphanet_436245
Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease	Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease	Orphanet	436242	http://www.orpha.net/ORDO/Orphanet_436242
Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	Orphanet	436271	http://www.orpha.net/ORDO/Orphanet_436271
Combined immunodeficiency-enteropathy spectrum	Combined immunodeficiency-enteropathy spectrum	Orphanet	436252	http://www.orpha.net/ORDO/Orphanet_436252
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa	Orphanet	436274	http://www.orpha.net/ORDO/Orphanet_436274
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity	Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity	Orphanet	437552	http://www.orpha.net/ORDO/Orphanet_437552
MYH7-related late-onset scapuloperoneal muscular dystrophy	MYH7-related late-onset scapuloperoneal muscular dystrophy	Orphanet	437572	http://www.orpha.net/ORDO/Orphanet_437572
Fatty acyl-CoA reductase 1 deficiency	Fatty acyl-CoA reductase 1 deficiency	Orphanet	438178	http://www.orpha.net/ORDO/Orphanet_438178
STAT3-related early-onset multisystem autoimmune disease	STAT3-related early-onset multisystem autoimmune disease	Orphanet	438159	http://www.orpha.net/ORDO/Orphanet_438159
PCNA-related progressive neurodegenerative photosensitivity syndrome	PCNA-related progressive neurodegenerative photosensitivity syndrome	Orphanet	438134	http://www.orpha.net/ORDO/Orphanet_438134
Steel syndrome	Steel syndrome	Orphanet	438117	http://www.orpha.net/ORDO/Orphanet_438117
RARS-related autosomal recessive hypomyelinating leukodystrophy	RARS-related autosomal recessive hypomyelinating leukodystrophy	Orphanet	438114	http://www.orpha.net/ORDO/Orphanet_438114
Ketoacidosis due to monocarboxylate transporter-1 deficiency	Ketoacidosis due to monocarboxylate transporter-1 deficiency	Orphanet	438075	http://www.orpha.net/ORDO/Orphanet_438075
Disorder of keton body transport	Disorder of keton body transport	Orphanet	438072	http://www.orpha.net/ORDO/Orphanet_438072
Human infection by orthopoxvirus	Human infection by orthopoxvirus	Orphanet	438279	http://www.orpha.net/ORDO/Orphanet_438279
GCGR-related hyperglucagonemia	GCGR-related hyperglucagonemia	Orphanet	438274	http://www.orpha.net/ORDO/Orphanet_438274
Progressive encephalomyelitis with rigidity and myoclonus	Progressive encephalomyelitis with rigidity and myoclonus	Orphanet	438266	http://www.orpha.net/ORDO/Orphanet_438266
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	Orphanet	438216	http://www.orpha.net/ORDO/Orphanet_438216
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	Orphanet	438213	http://www.orpha.net/ORDO/Orphanet_438213
Severe autosomal recessive macrothrombocytopenia	Severe autosomal recessive macrothrombocytopenia	Orphanet	438207	http://www.orpha.net/ORDO/Orphanet_438207
ALECT2 amyloidosis	ALECT2 amyloidosis	Orphanet	439224	http://www.orpha.net/ORDO/Orphanet_439224
AApoAIV amyloidosis	AApoAIV amyloidosis	Orphanet	439232	http://www.orpha.net/ORDO/Orphanet_439232
Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome	Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome	Orphanet	439212	http://www.orpha.net/ORDO/Orphanet_439212
KCNQ2-related epileptic encephalopathy	KCNQ2-related epileptic encephalopathy	Orphanet	439218	http://www.orpha.net/ORDO/Orphanet_439218
Zinc-responsive necrolytic acral erythema	Zinc-responsive necrolytic acral erythema	Orphanet	439196	http://www.orpha.net/ORDO/Orphanet_439196
Non-recovering obstetric brachial plexus lesion	Non-recovering obstetric brachial plexus lesion	Orphanet	439202	http://www.orpha.net/ORDO/Orphanet_439202
Placental insufficiency	Placental insufficiency	Orphanet	439167	http://www.orpha.net/ORDO/Orphanet_439167
Pediatric arterial ischemic stroke	Pediatric arterial ischemic stroke	Orphanet	439175	http://www.orpha.net/ORDO/Orphanet_439175
Systemic polyarteritis nodosa	Systemic polyarteritis nodosa	Orphanet	439762	http://www.orpha.net/ORDO/Orphanet_439762
PDE4D haploinsufficiency syndrome	PDE4D haploinsufficiency syndrome	Orphanet	439822	http://www.orpha.net/ORDO/Orphanet_439822
Secondary polyarteritis nodosa	Secondary polyarteritis nodosa	Orphanet	439746	http://www.orpha.net/ORDO/Orphanet_439746
Single-organ polyarteritis nodosa	Single-organ polyarteritis nodosa	Orphanet	439755	http://www.orpha.net/ORDO/Orphanet_439755
Cutaneous polyarteritis nodosa	Cutaneous polyarteritis nodosa	Orphanet	439729	http://www.orpha.net/ORDO/Orphanet_439729
Primary polyarteritis nodosa	Primary polyarteritis nodosa	Orphanet	439737	http://www.orpha.net/ORDO/Orphanet_439737
ABeta2M amyloidosis	ABeta2M amyloidosis	Orphanet	439246	http://www.orpha.net/ORDO/Orphanet_439246
ITM2B amyloidosis	ITM2B amyloidosis	Orphanet	439254	http://www.orpha.net/ORDO/Orphanet_439254
Congenital oculomotor nerve palsy	Congenital oculomotor nerve palsy	Orphanet	440221	http://www.orpha.net/ORDO/Orphanet_440221
Congenital abducens nerve palsy	Congenital abducens nerve palsy	Orphanet	440233	http://www.orpha.net/ORDO/Orphanet_440233
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease	Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease	Orphanet	439854	http://www.orpha.net/ORDO/Orphanet_439854
Autosomal recessive severe congenital neutropenia	Autosomal recessive severe congenital neutropenia	Orphanet	439849	http://www.orpha.net/ORDO/Orphanet_439849
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	Orphanet	439897	http://www.orpha.net/ORDO/Orphanet_439897
Plastic bronchitis	Plastic bronchitis	Orphanet	439881	http://www.orpha.net/ORDO/Orphanet_439881
Interstitial lung disease due to ABCA3 deficiency	Interstitial lung disease due to ABCA3 deficiency	Orphanet	440402	http://www.orpha.net/ORDO/Orphanet_440402
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	Orphanet	440354	http://www.orpha.net/ORDO/Orphanet_440354
Interstitial lung disease due to SP-C deficiency	Interstitial lung disease due to SP-C deficiency	Orphanet	440392	http://www.orpha.net/ORDO/Orphanet_440392
Necrotizing soft tissue infection	Necrotizing soft tissue infection	Orphanet	440368	http://www.orpha.net/ORDO/Orphanet_440368
Isolated sedoheptulokinase deficiency	Isolated sedoheptulokinase deficiency	Orphanet	440713	http://www.orpha.net/ORDO/Orphanet_440713
Extensive peripapillary myelinated nerve fibers	Extensive peripapillary myelinated nerve fibers	Orphanet	440724	http://www.orpha.net/ORDO/Orphanet_440724
Combined hamartoma of the retina and retinal pigment epithelium	Combined hamartoma of the retina and retinal pigment epithelium	Orphanet	440727	http://www.orpha.net/ORDO/Orphanet_440727
L-ferritin deficiency	L-ferritin deficiency	Orphanet	440731	http://www.orpha.net/ORDO/Orphanet_440731
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency	Orphanet	440427	http://www.orpha.net/ORDO/Orphanet_440427
Familial colorectal cancer Type X	Familial colorectal cancer Type X	Orphanet	440437	http://www.orpha.net/ORDO/Orphanet_440437
Disorders of pentose/polyol metabolism	Disorders of pentose/polyol metabolism	Orphanet	440701	http://www.orpha.net/ORDO/Orphanet_440701
Ribose-5-P isomerase deficiency	Ribose-5-P isomerase deficiency	Orphanet	440706	http://www.orpha.net/ORDO/Orphanet_440706
Syndromic hereditary optic neuropathy	Syndromic hereditary optic neuropathy	Orphanet	441434	http://www.orpha.net/ORDO/Orphanet_441434
Early-onset posterior subcapsular cataract	Early-onset posterior subcapsular cataract	Orphanet	441447	http://www.orpha.net/ORDO/Orphanet_441447
Early-onset lamellar cataract	Early-onset lamellar cataract	Orphanet	441452	http://www.orpha.net/ORDO/Orphanet_441452
Isolated agenesis of gallbladder	Isolated agenesis of gallbladder	Orphanet	440987	http://www.orpha.net/ORDO/Orphanet_440987
Sporadic porphyria cutanea tarda	Sporadic porphyria cutanea tarda	Orphanet	443057	http://www.orpha.net/ORDO/Orphanet_443057
Familial porphyria cutanea tarda	Familial porphyria cutanea tarda	Orphanet	443062	http://www.orpha.net/ORDO/Orphanet_443062
Central serous chorioretinopathy	Central serous chorioretinopathy	Orphanet	443079	http://www.orpha.net/ORDO/Orphanet_443079
Baroreflex failure	Baroreflex failure	Orphanet	443084	http://www.orpha.net/ORDO/Orphanet_443084
Hemicrania continua	Hemicrania continua	Orphanet	443070	http://www.orpha.net/ORDO/Orphanet_443070
Charcot-Marie-Tooth disease type 2S	Charcot-Marie-Tooth disease type 2S	Orphanet	443073	http://www.orpha.net/ORDO/Orphanet_443073
Undetermined early-onset epileptic encephalopathy	Undetermined early-onset epileptic encephalopathy	Orphanet	442835	http://www.orpha.net/ORDO/Orphanet_442835
AH amyloidosis	AH amyloidosis	Orphanet	442582	http://www.orpha.net/ORDO/Orphanet_442582
Disorder of plasmalogens biosynthesis	Disorder of plasmalogens biosynthesis	Orphanet	3276	http://www.orpha.net/ORDO/Orphanet_3276
X-linked erythropoietic protoporphyria	X-linked erythropoietic protoporphyria	Orphanet	443197	http://www.orpha.net/ORDO/Orphanet_443197
Pyruvate carboxylase deficiency	Pyruvate carboxylase deficiency	Orphanet	3008	http://www.orpha.net/ORDO/Orphanet_3008
Classic stiff person syndrome	Classic stiff person syndrome	Orphanet	443192	http://www.orpha.net/ORDO/Orphanet_443192
Centronuclear myopathy	Centronuclear myopathy	Orphanet	595	http://www.orpha.net/ORDO/Orphanet_595
Spontaneous intracranial hypotension	Spontaneous intracranial hypotension	Orphanet	443180	http://www.orpha.net/ORDO/Orphanet_443180
NON RARE IN EUROPE: Hyperlipoproteinemia type 4	NON RARE IN EUROPE: Hyperlipoproteinemia type 4	Orphanet	413	http://www.orpha.net/ORDO/Orphanet_413
Postpartum psychosis	Postpartum psychosis	Orphanet	443173	http://www.orpha.net/ORDO/Orphanet_443173
NON RARE IN EUROPE: Familial hypobetalipoproteinemia	NON RARE IN EUROPE: Familial hypobetalipoproteinemia	Orphanet	426	http://www.orpha.net/ORDO/Orphanet_426
HIV-associated cancer	HIV-associated cancer	Orphanet	443291	http://www.orpha.net/ORDO/Orphanet_443291
Mitochondrial neurogastrointestinal encephalomyopathy	Mitochondrial neurogastrointestinal encephalomyopathy	Orphanet	298	http://www.orpha.net/ORDO/Orphanet_298
Chronic hiccup	Chronic hiccup	Orphanet	396	http://www.orpha.net/ORDO/Orphanet_396
ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor	ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor	Orphanet	443287	http://www.orpha.net/ORDO/Orphanet_443287
Postural orthostatic tachycardia syndrome due to NET deficiency	Postural orthostatic tachycardia syndrome due to NET deficiency	Orphanet	443236	http://www.orpha.net/ORDO/Orphanet_443236
MODY	MODY	Orphanet	552	http://www.orpha.net/ORDO/Orphanet_552
Primitive portal vein thrombosis	Primitive portal vein thrombosis	Orphanet	854	http://www.orpha.net/ORDO/Orphanet_854
Paratyphoid fever	Paratyphoid fever	Orphanet	443227	http://www.orpha.net/ORDO/Orphanet_443227
Hyperostosis cranialis interna	Hyperostosis cranialis interna	Orphanet	443098	http://www.orpha.net/ORDO/Orphanet_443098
Hyperinsulinemic hypoglycaemia	Hyperinsulinemic hypoglycaemia	Orphanet	443095	http://www.orpha.net/ORDO/Orphanet_443095
46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect	46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect	Orphanet	443090	http://www.orpha.net/ORDO/Orphanet_443090
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency	46,XY disorder of sex development due to testicular 17,20-desmolase deficiency	Orphanet	443087	http://www.orpha.net/ORDO/Orphanet_443087
NUT midline carcinoma	NUT midline carcinoma	Orphanet	443167	http://www.orpha.net/ORDO/Orphanet_443167
Brugada syndrome	Brugada syndrome	Orphanet	130	http://www.orpha.net/ORDO/Orphanet_130
Severe combined immunodeficiency due to adenosine deaminase deficiency	Severe combined immunodeficiency due to adenosine deaminase deficiency	Orphanet	277	http://www.orpha.net/ORDO/Orphanet_277
NDE1-related microhydranencephaly	NDE1-related microhydranencephaly	Orphanet	443162	http://www.orpha.net/ORDO/Orphanet_443162
Lymphoplasmacytic lymphoma without IgM production	Lymphoplasmacytic lymphoma without IgM production	Orphanet	443159	http://www.orpha.net/ORDO/Orphanet_443159
Hypothalamic adipsic hypernatraemia syndrome	Hypothalamic adipsic hypernatraemia syndrome	Orphanet	443101	http://www.orpha.net/ORDO/Orphanet_443101
Focal stiff limb syndrome	Focal stiff limb syndrome	Orphanet	443804	http://www.orpha.net/ORDO/Orphanet_443804
PGM3-CDG	PGM3-CDG	Orphanet	443811	http://www.orpha.net/ORDO/Orphanet_443811
Hereditary nonpolyposis colon cancer	Hereditary nonpolyposis colon cancer	Orphanet	443909	http://www.orpha.net/ORDO/Orphanet_443909
DNAJB2-related Charcot-Marie-Tooth disease type 2	DNAJB2-related Charcot-Marie-Tooth disease type 2	Orphanet	443950	http://www.orpha.net/ORDO/Orphanet_443950
Ventriculomegaly-cystic kidney disease	Ventriculomegaly-cystic kidney disease	Orphanet	443988	http://www.orpha.net/ORDO/Orphanet_443988
Autoimmune interstitial lung disease-arthritis syndrome	Autoimmune interstitial lung disease-arthritis syndrome	Orphanet	444092	http://www.orpha.net/ORDO/Orphanet_444092
Autosomal dominant spastic paraplegia type 73	Autosomal dominant spastic paraplegia type 73	Orphanet	444099	http://www.orpha.net/ORDO/Orphanet_444099
Hereditary amyloidosis	Hereditary amyloidosis	Orphanet	444116	http://www.orpha.net/ORDO/Orphanet_444116
Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome	Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome	Orphanet	444138	http://www.orpha.net/ORDO/Orphanet_444138
11q22.2q22.3 microdeletion syndrome	11q22.2q22.3 microdeletion syndrome	Orphanet	444002	http://www.orpha.net/ORDO/Orphanet_444002
Mandibulofacial dysostosis with alopecia	Mandibulofacial dysostosis with alopecia	Orphanet	443995	http://www.orpha.net/ORDO/Orphanet_443995
46,XX ovarian dysgenesis-short stature syndrome	46,XX ovarian dysgenesis-short stature syndrome	Orphanet	444048	http://www.orpha.net/ORDO/Orphanet_444048
Combined oxidative phosphorylation defect type 23	Combined oxidative phosphorylation defect type 23	Orphanet	444013	http://www.orpha.net/ORDO/Orphanet_444013
Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome	Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome	Orphanet	444069	http://www.orpha.net/ORDO/Orphanet_444069
20q11.2 microdeletion syndrome	20q11.2 microdeletion syndrome	Orphanet	444051	http://www.orpha.net/ORDO/Orphanet_444051
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	Orphanet	444077	http://www.orpha.net/ORDO/Orphanet_444077
Cerebellar-facial-dental syndrome	Cerebellar-facial-dental syndrome	Orphanet	444072	http://www.orpha.net/ORDO/Orphanet_444072
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome	Orphanet	444463	http://www.orpha.net/ORDO/Orphanet_444463
Familial chylomicronemia syndrome	Familial chylomicronemia syndrome	Orphanet	444490	http://www.orpha.net/ORDO/Orphanet_444490
Idiopathic phalangeal acro-osteolysis	Idiopathic phalangeal acro-osteolysis	Orphanet	444316	http://www.orpha.net/ORDO/Orphanet_444316
Combined oxidative phosphorylation defect type 24	Combined oxidative phosphorylation defect type 24	Orphanet	444458	http://www.orpha.net/ORDO/Orphanet_444458
Limb-girdle muscular dystrophy due to POMK deficiency	Limb-girdle muscular dystrophy due to POMK deficiency	Orphanet	445110	http://www.orpha.net/ORDO/Orphanet_445110
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	Orphanet	445062	http://www.orpha.net/ORDO/Orphanet_445062
3-methylglutaconic aciduria type 7	3-methylglutaconic aciduria type 7	Orphanet	445038	http://www.orpha.net/ORDO/Orphanet_445038
Combined immunodeficiency due to LRBA deficiency	Combined immunodeficiency due to LRBA deficiency	Orphanet	445018	http://www.orpha.net/ORDO/Orphanet_445018
Caudal regression-sirenomelia spectrum	Caudal regression-sirenomelia spectrum	Orphanet	444941	http://www.orpha.net/ORDO/Orphanet_444941
Pseudohypoaldosteronism	Pseudohypoaldosteronism	Orphanet	444916	http://www.orpha.net/ORDO/Orphanet_444916
NIK deficiency	NIK deficiency	Orphanet	447731	http://www.orpha.net/ORDO/Orphanet_447731
DOCK2 deficiency	DOCK2 deficiency	Orphanet	447737	http://www.orpha.net/ORDO/Orphanet_447737
Susceptibility to localized juvenile periodontitis	Susceptibility to localized juvenile periodontitis	Orphanet	447740	http://www.orpha.net/ORDO/Orphanet_447740
Secondary vasculitis	Secondary vasculitis	Orphanet	445197	http://www.orpha.net/ORDO/Orphanet_445197
Idiopathic dropped head syndrome	Idiopathic dropped head syndrome	Orphanet	447881	http://www.orpha.net/ORDO/Orphanet_447881
Polymerase proofreading-related adenomatous polyposis	Polymerase proofreading-related adenomatous polyposis	Orphanet	447877	http://www.orpha.net/ORDO/Orphanet_447877
Tremor-ataxia-central hypomyelination syndrome	Tremor-ataxia-central hypomyelination syndrome	Orphanet	447896	http://www.orpha.net/ORDO/Orphanet_447896
Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome	Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome	Orphanet	447893	http://www.orpha.net/ORDO/Orphanet_447893
Hemochromatosis type 5	Hemochromatosis type 5	Orphanet	447792	http://www.orpha.net/ORDO/Orphanet_447792
Cerebral visual impairment	Cerebral visual impairment	Orphanet	447788	http://www.orpha.net/ORDO/Orphanet_447788
Biological anomaly without phenotypic characterization	Biological anomaly without phenotypic characterization	Orphanet	447874	http://www.orpha.net/ORDO/Orphanet_447874
Lipoyl transferase 2 deficiency	Lipoyl transferase 2 deficiency	Orphanet	447795	http://www.orpha.net/ORDO/Orphanet_447795
Secondary sclerosing cholangitis	Secondary sclerosing cholangitis	Orphanet	447774	http://www.orpha.net/ORDO/Orphanet_447774
Sclerosing cholangitis	Sclerosing cholangitis	Orphanet	447771	http://www.orpha.net/ORDO/Orphanet_447771
Mitochondrial pyruvate carrier deficiency	Mitochondrial pyruvate carrier deficiency	Orphanet	447784	http://www.orpha.net/ORDO/Orphanet_447784
Keratocystic odontogenic tumor	Keratocystic odontogenic tumor	Orphanet	447777	http://www.orpha.net/ORDO/Orphanet_447777
Autosomal dominant spastic paraplegia type 9B	Autosomal dominant spastic paraplegia type 9B	Orphanet	447757	http://www.orpha.net/ORDO/Orphanet_447757
Autosomal dominant spastic paraplegia type 9A	Autosomal dominant spastic paraplegia type 9A	Orphanet	447753	http://www.orpha.net/ORDO/Orphanet_447753
IgG4-related sclerosing cholangitis	IgG4-related sclerosing cholangitis	Orphanet	447764	http://www.orpha.net/ORDO/Orphanet_447764
Autosomal recessive spastic paraplegia type 9B	Autosomal recessive spastic paraplegia type 9B	Orphanet	447760	http://www.orpha.net/ORDO/Orphanet_447760
PRKAR1B-related neurodegenerative dementia with intermediate filaments	PRKAR1B-related neurodegenerative dementia with intermediate filaments	Orphanet	412066	http://www.orpha.net/ORDO/Orphanet_412066
Autosomal recessive cerebellar ataxia due to STUB1 deficiency	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	Orphanet	412057	http://www.orpha.net/ORDO/Orphanet_412057
Epidermolysis bullosa simplex due to BP230 deficiency	Epidermolysis bullosa simplex due to BP230 deficiency	Orphanet	412181	http://www.orpha.net/ORDO/Orphanet_412181
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	Orphanet	412069	http://www.orpha.net/ORDO/Orphanet_412069
Epidermolysis bullosa simplex due to exophilin 5 deficiency	Epidermolysis bullosa simplex due to exophilin 5 deficiency	Orphanet	412189	http://www.orpha.net/ORDO/Orphanet_412189
Dystonia-aphonia syndrome	Dystonia-aphonia syndrome	Orphanet	412217	http://www.orpha.net/ORDO/Orphanet_412217
Primary failure of tooth eruption	Primary failure of tooth eruption	Orphanet	412206	http://www.orpha.net/ORDO/Orphanet_412206
Squamous cell carcinoma of the stomach	Squamous cell carcinoma of the stomach	Orphanet	418959	http://www.orpha.net/ORDO/Orphanet_418959
Carcinoma of esophagus, salivary gland type	Carcinoma of esophagus, salivary gland type	Orphanet	418945	http://www.orpha.net/ORDO/Orphanet_418945
Undifferentiated carcinoma of esophagus	Undifferentiated carcinoma of esophagus	Orphanet	418951	http://www.orpha.net/ORDO/Orphanet_418951
Secondary pulmonary alveolar proteinosis	Secondary pulmonary alveolar proteinosis	Orphanet	420259	http://www.orpha.net/ORDO/Orphanet_420259
Malan overgrowth syndrome	Malan overgrowth syndrome	Orphanet	420179	http://www.orpha.net/ORDO/Orphanet_420179
Genetic facial cleft	Genetic facial cleft	Orphanet	414726	http://www.orpha.net/ORDO/Orphanet_414726
NON RARE IN EUROPE: Non-arteritic anterior ischemic optic neuropathy	NON RARE IN EUROPE: Non-arteritic anterior ischemic optic neuropathy	Orphanet	415300	http://www.orpha.net/ORDO/Orphanet_415300
Bilirubin encephalopathy	Bilirubin encephalopathy	Orphanet	415286	http://www.orpha.net/ORDO/Orphanet_415286
NON RARE IN EUROPE: Adenocarcinoma of the lung	NON RARE IN EUROPE: Adenocarcinoma of the lung	Orphanet	415268	http://www.orpha.net/ORDO/Orphanet_415268
NON RARE IN EUROPE: Sudden infant death syndrome	NON RARE IN EUROPE: Sudden infant death syndrome	Orphanet	415687	http://www.orpha.net/ORDO/Orphanet_415687
Rare genetic odontal or periodontal disorder	Rare genetic odontal or periodontal disorder	Orphanet	420755	http://www.orpha.net/ORDO/Orphanet_420755
Autoimmune encephalopathy with parasomnia and obstructive sleep apnea	Autoimmune encephalopathy with parasomnia and obstructive sleep apnea	Orphanet	420789	http://www.orpha.net/ORDO/Orphanet_420789
Cono-spondylar dysplasia	Cono-spondylar dysplasia	Orphanet	420794	http://www.orpha.net/ORDO/Orphanet_420794
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	Orphanet	420702	http://www.orpha.net/ORDO/Orphanet_420702
Combined oxidative phosphorylation defect type 20	Combined oxidative phosphorylation defect type 20	Orphanet	420728	http://www.orpha.net/ORDO/Orphanet_420728
Combined oxidative phosphorylation defect type 21	Combined oxidative phosphorylation defect type 21	Orphanet	420733	http://www.orpha.net/ORDO/Orphanet_420733
RIDDLE syndrome	RIDDLE syndrome	Orphanet	420741	http://www.orpha.net/ORDO/Orphanet_420741
Adult-onset cervical dystonia, DYT23 type	Adult-onset cervical dystonia, DYT23 type	Orphanet	420492	http://www.orpha.net/ORDO/Orphanet_420492
Cranio-cervical dystonia with laryngeal and upper-limb involvement	Cranio-cervical dystonia with laryngeal and upper-limb involvement	Orphanet	420485	http://www.orpha.net/ORDO/Orphanet_420485
Visual snow syndrome	Visual snow syndrome	Orphanet	420556	http://www.orpha.net/ORDO/Orphanet_420556
Semicircular canal dehiscence syndrome	Semicircular canal dehiscence syndrome	Orphanet	420402	http://www.orpha.net/ORDO/Orphanet_420402
Glycogen storage disease due to acid maltase deficiency, late-onset	Glycogen storage disease due to acid maltase deficiency, late-onset	Orphanet	420429	http://www.orpha.net/ORDO/Orphanet_420429
Transient myeloproliferative syndrome	Transient myeloproliferative syndrome	Orphanet	420611	http://www.orpha.net/ORDO/Orphanet_420611
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Orphanet	420584	http://www.orpha.net/ORDO/Orphanet_420584
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency	Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency	Orphanet	420699	http://www.orpha.net/ORDO/Orphanet_420699
Woolly hair-palmoplantar keratoderma syndrome	Woolly hair-palmoplantar keratoderma syndrome	Orphanet	420686	http://www.orpha.net/ORDO/Orphanet_420686
Temple-Baraitser syndrome	Temple-Baraitser syndrome	Orphanet	420561	http://www.orpha.net/ORDO/Orphanet_420561
Severe combined immunodeficiency due to CTPS1 deficiency	Severe combined immunodeficiency due to CTPS1 deficiency	Orphanet	420573	http://www.orpha.net/ORDO/Orphanet_420573
Bleeding disorder due to CalDAG-GEFI deficiency	Bleeding disorder due to CalDAG-GEFI deficiency	Orphanet	420566	http://www.orpha.net/ORDO/Orphanet_420566
Mucolipidosis type III alpha/beta	Mucolipidosis type III alpha/beta	Orphanet	423461	http://www.orpha.net/ORDO/Orphanet_423461
Mucolipidosis type III gamma	Mucolipidosis type III gamma	Orphanet	423470	http://www.orpha.net/ORDO/Orphanet_423470
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome	Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome	Orphanet	423454	http://www.orpha.net/ORDO/Orphanet_423454
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	Orphanet	423384	http://www.orpha.net/ORDO/Orphanet_423384
Spinocerebellar ataxia type 38	Spinocerebellar ataxia type 38	Orphanet	423296	http://www.orpha.net/ORDO/Orphanet_423296
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome	Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome	Orphanet	423306	http://www.orpha.net/ORDO/Orphanet_423306
Cutaneous larva migrans	Cutaneous larva migrans	Orphanet	423717	http://www.orpha.net/ORDO/Orphanet_423717
Rare carcinoma of stomach	Rare carcinoma of stomach	Orphanet	423771	http://www.orpha.net/ORDO/Orphanet_423771
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect	Double outlet right ventricle with subaortic or doubly committed ventricular septal defect	Orphanet	423693	http://www.orpha.net/ORDO/Orphanet_423693
Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy	Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy	Orphanet	423712	http://www.orpha.net/ORDO/Orphanet_423712
Rare autonomic nervous system disorder	Rare autonomic nervous system disorder	Orphanet	423662	http://www.orpha.net/ORDO/Orphanet_423662
NON RARE IN EUROPE: Cortisol-producing adrenal tumor	NON RARE IN EUROPE: Cortisol-producing adrenal tumor	Orphanet	423668	http://www.orpha.net/ORDO/Orphanet_423668
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	Orphanet	423479	http://www.orpha.net/ORDO/Orphanet_423479
ARX-related encephalopathy-brain malformation spectrum	ARX-related encephalopathy-brain malformation spectrum	Orphanet	423655	http://www.orpha.net/ORDO/Orphanet_423655
Hereditary clear cell renal cell carcinoma	Hereditary clear cell renal cell carcinoma	Orphanet	422526	http://www.orpha.net/ORDO/Orphanet_422526
Spinocerebellar ataxia type 40	Spinocerebellar ataxia type 40	Orphanet	423275	http://www.orpha.net/ORDO/Orphanet_423275
Solid pseudopapillary carcinoma of pancreas	Solid pseudopapillary carcinoma of pancreas	Orphanet	424065	http://www.orpha.net/ORDO/Orphanet_424065
Intraductal papillary mucinous carcinoma of pancreas	Intraductal papillary mucinous carcinoma of pancreas	Orphanet	424058	http://www.orpha.net/ORDO/Orphanet_424058
Osteoclastic giant cell tumor of pancreas	Osteoclastic giant cell tumor of pancreas	Orphanet	424080	http://www.orpha.net/ORDO/Orphanet_424080
Serous cystadenocarcinoma of pancreas	Serous cystadenocarcinoma of pancreas	Orphanet	424073	http://www.orpha.net/ORDO/Orphanet_424073
Congenital myopathy with myasthenic-like onset	Congenital myopathy with myasthenic-like onset	Orphanet	424107	http://www.orpha.net/ORDO/Orphanet_424107
Colobomatous microphthalmia-rhizomelic dysplasia syndrome	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	Orphanet	424099	http://www.orpha.net/ORDO/Orphanet_424099
Qualitative or quantitative defects of Torsin-1A-interacting protein 1	Qualitative or quantitative defects of Torsin-1A-interacting protein 1	Orphanet	424925	http://www.orpha.net/ORDO/Orphanet_424925
TOR1AIP1-related limb-girdle muscular dystrophy	TOR1AIP1-related limb-girdle muscular dystrophy	Orphanet	424261	http://www.orpha.net/ORDO/Orphanet_424261
Adenocarcinoma of the anal canal	Adenocarcinoma of the anal canal	Orphanet	424016	http://www.orpha.net/ORDO/Orphanet_424016
Carcinoma of the anal canal	Carcinoma of the anal canal	Orphanet	424013	http://www.orpha.net/ORDO/Orphanet_424013
Progressive myoclonic epilepsy type 8	Progressive myoclonic epilepsy type 8	Orphanet	424027	http://www.orpha.net/ORDO/Orphanet_424027
Squamous cell carcinoma of the anal canal	Squamous cell carcinoma of the anal canal	Orphanet	424019	http://www.orpha.net/ORDO/Orphanet_424019
Squamous cell carcinoma of pancreas	Squamous cell carcinoma of pancreas	Orphanet	424039	http://www.orpha.net/ORDO/Orphanet_424039
Rare epithelial tumor of pancreas	Rare epithelial tumor of pancreas	Orphanet	424033	http://www.orpha.net/ORDO/Orphanet_424033
Mucinous cystadenocarcinoma of the pancreas	Mucinous cystadenocarcinoma of the pancreas	Orphanet	424053	http://www.orpha.net/ORDO/Orphanet_424053
Acinar cell carcinoma of pancreas	Acinar cell carcinoma of pancreas	Orphanet	424046	http://www.orpha.net/ORDO/Orphanet_424046
Squamous cell carcinoma of the small intestine	Squamous cell carcinoma of the small intestine	Orphanet	423968	http://www.orpha.net/ORDO/Orphanet_423968
Neuroendocrine tumor of the small intestine	Neuroendocrine tumor of the small intestine	Orphanet	423975	http://www.orpha.net/ORDO/Orphanet_423975
Epithelial tumor of the appendix	Epithelial tumor of the appendix	Orphanet	423982	http://www.orpha.net/ORDO/Orphanet_423982
Rare epithelial tumor of colon	Rare epithelial tumor of colon	Orphanet	423991	http://www.orpha.net/ORDO/Orphanet_423991
Squamous cell carcinoma of the colon	Squamous cell carcinoma of the colon	Orphanet	423994	http://www.orpha.net/ORDO/Orphanet_423994
Rare epithelial tumor of rectum	Rare epithelial tumor of rectum	Orphanet	423998	http://www.orpha.net/ORDO/Orphanet_423998
Squamous cell carcinoma of the rectum	Squamous cell carcinoma of the rectum	Orphanet	424002	http://www.orpha.net/ORDO/Orphanet_424002
Epithelial tumor of anal canal	Epithelial tumor of anal canal	Orphanet	424010	http://www.orpha.net/ORDO/Orphanet_424010
Hereditary gastric cancer	Hereditary gastric cancer	Orphanet	423776	http://www.orpha.net/ORDO/Orphanet_423776
Undifferentiated carcinoma of stomach	Undifferentiated carcinoma of stomach	Orphanet	423786	http://www.orpha.net/ORDO/Orphanet_423786
Rare tumor of small intestine	Rare tumor of small intestine	Orphanet	423793	http://www.orpha.net/ORDO/Orphanet_423793
Mesenchymal tumor of small intestine	Mesenchymal tumor of small intestine	Orphanet	423798	http://www.orpha.net/ORDO/Orphanet_423798
Microcephaly-complex motor and sensory axonal neuropathy syndrome	Microcephaly-complex motor and sensory axonal neuropathy syndrome	Orphanet	423894	http://www.orpha.net/ORDO/Orphanet_423894
Rare carcinoma of small intestine	Rare carcinoma of small intestine	Orphanet	423957	http://www.orpha.net/ORDO/Orphanet_423957
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome	X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome	Orphanet	431140	http://www.orpha.net/ORDO/Orphanet_431140
Rare epithelial tumor of small intestine	Rare epithelial tumor of small intestine	Orphanet	425368	http://www.orpha.net/ORDO/Orphanet_425368
Inherited digestive cancer-predisposing syndrome	Inherited digestive cancer-predisposing syndrome	Orphanet	425003	http://www.orpha.net/ORDO/Orphanet_425003
STING-associated vasculopathy with onset in infancy	STING-associated vasculopathy with onset in infancy	Orphanet	425120	http://www.orpha.net/ORDO/Orphanet_425120
Adenocarcinoma of the liver and intrahepatic biliary tract	Adenocarcinoma of the liver and intrahepatic biliary tract	Orphanet	424943	http://www.orpha.net/ORDO/Orphanet_424943
Undifferentiated carcinoma of liver and intrahepatic biliary tract	Undifferentiated carcinoma of liver and intrahepatic biliary tract	Orphanet	424970	http://www.orpha.net/ORDO/Orphanet_424970
Rare malignant epithelial tumor of liver and intrahepatic biliary tract	Rare malignant epithelial tumor of liver and intrahepatic biliary tract	Orphanet	424933	http://www.orpha.net/ORDO/Orphanet_424933
Carcinoma of liver and intrahepatic biliary tract	Carcinoma of liver and intrahepatic biliary tract	Orphanet	424936	http://www.orpha.net/ORDO/Orphanet_424936
Adenocarcinoma of the gallbladder and extrahepatic biliary tract	Adenocarcinoma of the gallbladder and extrahepatic biliary tract	Orphanet	424991	http://www.orpha.net/ORDO/Orphanet_424991
Squamous cell carcinoma of gallbladder and extrahepatic biliary tract	Squamous cell carcinoma of gallbladder and extrahepatic biliary tract	Orphanet	424996	http://www.orpha.net/ORDO/Orphanet_424996
Squamous cell carcinoma of liver and intrahepatic biliary tract	Squamous cell carcinoma of liver and intrahepatic biliary tract	Orphanet	424975	http://www.orpha.net/ORDO/Orphanet_424975
Biliary cystadenocarcinoma	Biliary cystadenocarcinoma	Orphanet	424982	http://www.orpha.net/ORDO/Orphanet_424982
Progressive encephalopathy with leukodystrophy due to DECR deficiency	Progressive encephalopathy with leukodystrophy due to DECR deficiency	Orphanet	431361	http://www.orpha.net/ORDO/Orphanet_431361
Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis	Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis	Orphanet	431353	http://www.orpha.net/ORDO/Orphanet_431353
Patent urachus	Patent urachus	Orphanet	431341	http://www.orpha.net/ORDO/Orphanet_431341
Urachal sinus	Urachal sinus	Orphanet	431344	http://www.orpha.net/ORDO/Orphanet_431344
Urachal diverticulum	Urachal diverticulum	Orphanet	431347	http://www.orpha.net/ORDO/Orphanet_431347
X-linked scapuloperoneal muscular dystrophy	X-linked scapuloperoneal muscular dystrophy	Orphanet	431272	http://www.orpha.net/ORDO/Orphanet_431272
Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder	Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder	Orphanet	431320	http://www.orpha.net/ORDO/Orphanet_431320
Autosomal recessive spastic paraplegia type 57	Autosomal recessive spastic paraplegia type 57	Orphanet	431329	http://www.orpha.net/ORDO/Orphanet_431329
Scapuloperoneal spinal muscular atrophy	Scapuloperoneal spinal muscular atrophy	Orphanet	431255	http://www.orpha.net/ORDO/Orphanet_431255
Late-onset scapuloperoneal muscular dystrophy with hyaline bodies	Late-onset scapuloperoneal muscular dystrophy with hyaline bodies	Orphanet	431263	http://www.orpha.net/ORDO/Orphanet_431263
Combined immunodeficiency due to OX40 deficiency	Combined immunodeficiency due to OX40 deficiency	Orphanet	431149	http://www.orpha.net/ORDO/Orphanet_431149
Primary immunodeficiency with predisposition to severe viral infection	Primary immunodeficiency with predisposition to severe viral infection	Orphanet	431156	http://www.orpha.net/ORDO/Orphanet_431156
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	Orphanet	431166	http://www.orpha.net/ORDO/Orphanet_431166
Progressive myoclonic epilepsy type 7	Progressive myoclonic epilepsy type 7	Orphanet	435438	http://www.orpha.net/ORDO/Orphanet_435438
Autosomal dominant Charcot-Marie-Tooth disease type 2Y	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	Orphanet	435387	http://www.orpha.net/ORDO/Orphanet_435387
Anterior urethral valve	Anterior urethral valve	Orphanet	435372	http://www.orpha.net/ORDO/Orphanet_435372
Fetal lower urinary tract obstruction	Fetal lower urinary tract obstruction	Orphanet	435365	http://www.orpha.net/ORDO/Orphanet_435365
Familial ossifying fibroma	Familial ossifying fibroma	Orphanet	435329	http://www.orpha.net/ORDO/Orphanet_435329
Syndrome with woolly hair	Syndrome with woolly hair	Orphanet	434809	http://www.orpha.net/ORDO/Orphanet_434809
Rare genetic autonomic nervous system disorder	Rare genetic autonomic nervous system disorder	Orphanet	434786	http://www.orpha.net/ORDO/Orphanet_434786
Orofaciodigital syndrome type 14	Orofaciodigital syndrome type 14	Orphanet	434179	http://www.orpha.net/ORDO/Orphanet_434179
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	Orphanet	504476	http://www.orpha.net/ORDO/Orphanet_504476
Severe combined immunodeficiency due to LAT deficiency	Severe combined immunodeficiency due to LAT deficiency	Orphanet	504523	http://www.orpha.net/ORDO/Orphanet_504523
Combined immunodeficiency due to Moesin deficiency	Combined immunodeficiency due to Moesin deficiency	Orphanet	504530	http://www.orpha.net/ORDO/Orphanet_504530
NON RARE IN EUROPE: Pigment-dispersion syndrome	NON RARE IN EUROPE: Pigment-dispersion syndrome	Orphanet	26823	http://www.orpha.net/ORDO/Orphanet_26823
Very long chain acyl-CoA dehydrogenase deficiency	Very long chain acyl-CoA dehydrogenase deficiency	Orphanet	26793	http://www.orpha.net/ORDO/Orphanet_26793
Hereditary pheochromocytoma-paraganglioma	Hereditary pheochromocytoma-paraganglioma	Orphanet	29072	http://www.orpha.net/ORDO/Orphanet_29072
Tyrosinemia type 2	Tyrosinemia type 2	Orphanet	28378	http://www.orpha.net/ORDO/Orphanet_28378
Reactive arthritis	Reactive arthritis	Orphanet	29207	http://www.orpha.net/ORDO/Orphanet_29207
Multiple myeloma	Multiple myeloma	Orphanet	29073	http://www.orpha.net/ORDO/Orphanet_29073
Spontaneous periodic hypothermia	Spontaneous periodic hypothermia	Orphanet	29822	http://www.orpha.net/ORDO/Orphanet_29822
Isolated biliary atresia	Isolated biliary atresia	Orphanet	30391	http://www.orpha.net/ORDO/Orphanet_30391
Apparent mineralocorticoid excess	Apparent mineralocorticoid excess	Orphanet	320	http://www.orpha.net/ORDO/Orphanet_320
Idiopathic acute eosinophilic pneumonia	Idiopathic acute eosinophilic pneumonia	Orphanet	724	http://www.orpha.net/ORDO/Orphanet_724
Dopamine beta-hydroxylase deficiency	Dopamine beta-hydroxylase deficiency	Orphanet	230	http://www.orpha.net/ORDO/Orphanet_230
Continuous spikes and waves during sleep	Continuous spikes and waves during sleep	Orphanet	725	http://www.orpha.net/ORDO/Orphanet_725
Congenital myasthenic syndrome	Congenital myasthenic syndrome	Orphanet	590	http://www.orpha.net/ORDO/Orphanet_590
Familial hyperaldosteronism type II	Familial hyperaldosteronism type II	Orphanet	404	http://www.orpha.net/ORDO/Orphanet_404
Pseudohypoaldosteronism type 1	Pseudohypoaldosteronism type 1	Orphanet	756	http://www.orpha.net/ORDO/Orphanet_756
Cataract-glaucoma syndrome	Cataract-glaucoma syndrome	Orphanet	162	http://www.orpha.net/ORDO/Orphanet_162
Diffuse large B-cell lymphoma	Diffuse large B-cell lymphoma	Orphanet	544	http://www.orpha.net/ORDO/Orphanet_544
Follicular lymphoma	Follicular lymphoma	Orphanet	545	http://www.orpha.net/ORDO/Orphanet_545
Idiopathic aplastic anemia	Idiopathic aplastic anemia	Orphanet	88	http://www.orpha.net/ORDO/Orphanet_88
Multiple system atrophy	Multiple system atrophy	Orphanet	102	http://www.orpha.net/ORDO/Orphanet_102
Primary myelofibrosis	Primary myelofibrosis	Orphanet	824	http://www.orpha.net/ORDO/Orphanet_824
Mendelian susceptibility to mycobacterial diseases	Mendelian susceptibility to mycobacterial diseases	Orphanet	748	http://www.orpha.net/ORDO/Orphanet_748
Polycythemia vera	Polycythemia vera	Orphanet	729	http://www.orpha.net/ORDO/Orphanet_729
X-linked myopathy with excessive autophagy	X-linked myopathy with excessive autophagy	Orphanet	25980	http://www.orpha.net/ORDO/Orphanet_25980
Juvenile temporal arteritis	Juvenile temporal arteritis	Orphanet	26137	http://www.orpha.net/ORDO/Orphanet_26137
Hereditary diffuse gastric cancer	Hereditary diffuse gastric cancer	Orphanet	26106	http://www.orpha.net/ORDO/Orphanet_26106
Ventilator-induced diaphragmatic dysfunction	Ventilator-induced diaphragmatic dysfunction	Orphanet	505395	http://www.orpha.net/ORDO/Orphanet_505395
Benign occipital epilepsy	Benign occipital epilepsy	Orphanet	25968	http://www.orpha.net/ORDO/Orphanet_25968
Sebastian syndrome	Sebastian syndrome	Orphanet	807	http://www.orpha.net/ORDO/Orphanet_807
Pseudomyxoma peritonei	Pseudomyxoma peritonei	Orphanet	26790	http://www.orpha.net/ORDO/Orphanet_26790
Short chain acyl-CoA dehydrogenase deficiency	Short chain acyl-CoA dehydrogenase deficiency	Orphanet	26792	http://www.orpha.net/ORDO/Orphanet_26792
Multiple acyl-CoA dehydrogenase deficiency	Multiple acyl-CoA dehydrogenase deficiency	Orphanet	26791	http://www.orpha.net/ORDO/Orphanet_26791
Acquired prothrombin deficiency	Acquired prothrombin deficiency	Orphanet	26348	http://www.orpha.net/ORDO/Orphanet_26348
Protein S acquired deficiency	Protein S acquired deficiency	Orphanet	26349	http://www.orpha.net/ORDO/Orphanet_26349
Common mesentery	Common mesentery	Orphanet	620	http://www.orpha.net/ORDO/Orphanet_620
Congenital cervical spinal stenosis	Congenital cervical spinal stenosis	Orphanet	831	http://www.orpha.net/ORDO/Orphanet_831
Penile agenesis	Penile agenesis	Orphanet	49	http://www.orpha.net/ORDO/Orphanet_49
Diphallia	Diphallia	Orphanet	227	http://www.orpha.net/ORDO/Orphanet_227
Accessory pancreas	Accessory pancreas	Orphanet	674	http://www.orpha.net/ORDO/Orphanet_674
Hepatic cystic hamartoma	Hepatic cystic hamartoma	Orphanet	386	http://www.orpha.net/ORDO/Orphanet_386
Autosomal dominant limb-girdle muscular dystrophy type 1A	Autosomal dominant limb-girdle muscular dystrophy type 1A	Orphanet	266	http://www.orpha.net/ORDO/Orphanet_266
Autosomal dominant limb-girdle muscular dystrophy type 1B	Autosomal dominant limb-girdle muscular dystrophy type 1B	Orphanet	264	http://www.orpha.net/ORDO/Orphanet_264
Gamma-sarcoglycan-related  limb-girdle muscular dystrophy R5	Gamma-sarcoglycan-related  limb-girdle muscular dystrophy R5	Orphanet	353	http://www.orpha.net/ORDO/Orphanet_353
Delta-sarcoglycan-related  limb-girdle muscular dystrophy R6	Delta-sarcoglycan-related  limb-girdle muscular dystrophy R6	Orphanet	219	http://www.orpha.net/ORDO/Orphanet_219
Multifocal motor neuropathy	Multifocal motor neuropathy	Orphanet	641	http://www.orpha.net/ORDO/Orphanet_641
Beta-sarcoglycan-related  limb-girdle muscular dystrophy R4	Beta-sarcoglycan-related  limb-girdle muscular dystrophy R4	Orphanet	119	http://www.orpha.net/ORDO/Orphanet_119
Distal myopathy, Welander type	Distal myopathy, Welander type	Orphanet	603	http://www.orpha.net/ORDO/Orphanet_603
Combined immunodeficiency due to GINS1 deficiency	Combined immunodeficiency due to GINS1 deficiency	Orphanet	505227	http://www.orpha.net/ORDO/Orphanet_505227
Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	Orphanet	505237	http://www.orpha.net/ORDO/Orphanet_505237
Muscle-eye-brain disease	Muscle-eye-brain disease	Orphanet	588	http://www.orpha.net/ORDO/Orphanet_588
Walker-Warburg syndrome	Walker-Warburg syndrome	Orphanet	899	http://www.orpha.net/ORDO/Orphanet_899
3-methylglutaconic aciduria type 9	3-methylglutaconic aciduria type 9	Orphanet	505216	http://www.orpha.net/ORDO/Orphanet_505216
Congenital muscular dystrophy, Fukuyama type	Congenital muscular dystrophy, Fukuyama type	Orphanet	272	http://www.orpha.net/ORDO/Orphanet_272
3-methylglutaconic aciduria type 8	3-methylglutaconic aciduria type 8	Orphanet	505208	http://www.orpha.net/ORDO/Orphanet_505208
Autosomal dominant limb-girdle muscular dystrophy type 1C	Autosomal dominant limb-girdle muscular dystrophy type 1C	Orphanet	265	http://www.orpha.net/ORDO/Orphanet_265
Dysferlin-related  limb-girdle muscular dystrophy R2	Dysferlin-related  limb-girdle muscular dystrophy R2	Orphanet	268	http://www.orpha.net/ORDO/Orphanet_268
Limb-girdle muscular dystrophy	Limb-girdle muscular dystrophy	Orphanet	263	http://www.orpha.net/ORDO/Orphanet_263
Vocal cord and pharyngeal distal myopathy	Vocal cord and pharyngeal distal myopathy	Orphanet	600	http://www.orpha.net/ORDO/Orphanet_600
Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	Orphanet	505248	http://www.orpha.net/ORDO/Orphanet_505248
Tibial muscular dystrophy	Tibial muscular dystrophy	Orphanet	609	http://www.orpha.net/ORDO/Orphanet_609
GNE myopathy	GNE myopathy	Orphanet	602	http://www.orpha.net/ORDO/Orphanet_602
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	Orphanet	505242	http://www.orpha.net/ORDO/Orphanet_505242
MEPAN syndrome	MEPAN syndrome	Orphanet	508093	http://www.orpha.net/ORDO/Orphanet_508093
Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	Orphanet	508533	http://www.orpha.net/ORDO/Orphanet_508533
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	Orphanet	508542	http://www.orpha.net/ORDO/Orphanet_508542
Familial intestinal malrotation	Familial intestinal malrotation	Orphanet	508410	http://www.orpha.net/ORDO/Orphanet_508410
Congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome	Congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome	Orphanet	508512	http://www.orpha.net/ORDO/Orphanet_508512
Generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss	Generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss	Orphanet	508529	http://www.orpha.net/ORDO/Orphanet_508529
Hyperphenylalaninemia due to DNAJC12 deficiency	Hyperphenylalaninemia due to DNAJC12 deficiency	Orphanet	508523	http://www.orpha.net/ORDO/Orphanet_508523
8q24.3 microdeletion syndrome	8q24.3 microdeletion syndrome	Orphanet	508488	http://www.orpha.net/ORDO/Orphanet_508488
Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome	Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome	Orphanet	508476	http://www.orpha.net/ORDO/Orphanet_508476
Oral-facial-digital syndrome with short stature and brachymesophalangy	Oral-facial-digital syndrome with short stature and brachymesophalangy	Orphanet	508501	http://www.orpha.net/ORDO/Orphanet_508501
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	Orphanet	508498	http://www.orpha.net/ORDO/Orphanet_508498
CDKL5-related epileptic encephalopathy	CDKL5-related epileptic encephalopathy	Orphanet	505652	http://www.orpha.net/ORDO/Orphanet_505652
Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome	Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome	Orphanet	506784	http://www.orpha.net/ORDO/Orphanet_506784
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency	Familial steroid-resistant nephrotic syndrome with adrenal insufficiency	Orphanet	506334	http://www.orpha.net/ORDO/Orphanet_506334
Stromme syndrome	Stromme syndrome	Orphanet	506307	http://www.orpha.net/ORDO/Orphanet_506307
Gabriele-de Vries syndrome	Gabriele-de Vries syndrome	Orphanet	506358	http://www.orpha.net/ORDO/Orphanet_506358
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	Orphanet	506353	http://www.orpha.net/ORDO/Orphanet_506353
Rare disorder potentially indicated for bowel transplant	Rare disorder potentially indicated for bowel transplant	Orphanet	506216	http://www.orpha.net/ORDO/Orphanet_506216
Rare disorder potentially indicated for hematopoietic stem cell transplant	Rare disorder potentially indicated for hematopoietic stem cell transplant	Orphanet	506219	http://www.orpha.net/ORDO/Orphanet_506219
Rare disorder potentially indicated for lung transplant	Rare disorder potentially indicated for lung transplant	Orphanet	506222	http://www.orpha.net/ORDO/Orphanet_506222
Rare disorder potentially indicated for heart transplant	Rare disorder potentially indicated for heart transplant	Orphanet	506225	http://www.orpha.net/ORDO/Orphanet_506225
Neuroendocrine neoplasm of esophagus	Neuroendocrine neoplasm of esophagus	Orphanet	506136	http://www.orpha.net/ORDO/Orphanet_506136
Rare disorder potentially indicated for transplant	Rare disorder potentially indicated for transplant	Orphanet	506207	http://www.orpha.net/ORDO/Orphanet_506207
Rare disorder potentially indicated for liver transplant	Rare disorder potentially indicated for liver transplant	Orphanet	506210	http://www.orpha.net/ORDO/Orphanet_506210
Rare disorder potentially indicated for kidney transplant	Rare disorder potentially indicated for kidney transplant	Orphanet	506213	http://www.orpha.net/ORDO/Orphanet_506213
Serotonin-producing neuroendocrine tumor of pancreas	Serotonin-producing neuroendocrine tumor of pancreas	Orphanet	506090	http://www.orpha.net/ORDO/Orphanet_506090
Neuroendocrine carcinoma of pancreas	Neuroendocrine carcinoma of pancreas	Orphanet	506098	http://www.orpha.net/ORDO/Orphanet_506098
Mixed neuroendocrine-nonneuroendocrine neoplasm of pancreas	Mixed neuroendocrine-nonneuroendocrine neoplasm of pancreas	Orphanet	506112	http://www.orpha.net/ORDO/Orphanet_506112
Neuroendocrine neoplasm of pancreas	Neuroendocrine neoplasm of pancreas	Orphanet	506052	http://www.orpha.net/ORDO/Orphanet_506052
Functioning neuroendocrine tumor of pancreas	Functioning neuroendocrine tumor of pancreas	Orphanet	506060	http://www.orpha.net/ORDO/Orphanet_506060
Non-functioning neuroendocrine tumor of pancreas	Non-functioning neuroendocrine tumor of pancreas	Orphanet	506075	http://www.orpha.net/ORDO/Orphanet_506075
Charcot-Marie-Tooth disease type 2T	Charcot-Marie-Tooth disease type 2T	Orphanet	495274	http://www.orpha.net/ORDO/Orphanet_495274
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy	C11ORF73-related autosomal recessive hypomyelinating leukodystrophy	Orphanet	495844	http://www.orpha.net/ORDO/Orphanet_495844
9q33.3q34.11 microdeletion syndrome	9q33.3q34.11 microdeletion syndrome	Orphanet	495818	http://www.orpha.net/ORDO/Orphanet_495818
Congenital agenesis of the scrotum	Congenital agenesis of the scrotum	Orphanet	495879	http://www.orpha.net/ORDO/Orphanet_495879
Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome	Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome	Orphanet	495875	http://www.orpha.net/ORDO/Orphanet_495875
Familial monosomy 7 syndrome	Familial monosomy 7 syndrome	Orphanet	495930	http://www.orpha.net/ORDO/Orphanet_495930
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	Orphanet	496641	http://www.orpha.net/ORDO/Orphanet_496641
Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome	Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome	Orphanet	496686	http://www.orpha.net/ORDO/Orphanet_496686
Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	Orphanet	496689	http://www.orpha.net/ORDO/Orphanet_496689
Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome	Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome	Orphanet	496693	http://www.orpha.net/ORDO/Orphanet_496693
EVEN-plus syndrome	EVEN-plus syndrome	Orphanet	496751	http://www.orpha.net/ORDO/Orphanet_496751
Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	Orphanet	496756	http://www.orpha.net/ORDO/Orphanet_496756
Ocular anomalies-axonal neuropathy-developmental delay syndrome	Ocular anomalies-axonal neuropathy-developmental delay syndrome	Orphanet	496790	http://www.orpha.net/ORDO/Orphanet_496790
MIRAGE syndrome	MIRAGE syndrome	Orphanet	494433	http://www.orpha.net/ORDO/Orphanet_494433
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome	Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome	Orphanet	494439	http://www.orpha.net/ORDO/Orphanet_494439
Extracranial carotid artery aneurysm	Extracranial carotid artery aneurysm	Orphanet	494424	http://www.orpha.net/ORDO/Orphanet_494424
Idiopathic pleuroparenchymal fibroelastosis	Idiopathic pleuroparenchymal fibroelastosis	Orphanet	494428	http://www.orpha.net/ORDO/Orphanet_494428
Vulvar basal cell carcinoma	Vulvar basal cell carcinoma	Orphanet	494451	http://www.orpha.net/ORDO/Orphanet_494451
Vulvar adenocarcinoma	Vulvar adenocarcinoma	Orphanet	494454	http://www.orpha.net/ORDO/Orphanet_494454
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome	DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome	Orphanet	494444	http://www.orpha.net/ORDO/Orphanet_494444
Vulvar squamous cell carcinoma	Vulvar squamous cell carcinoma	Orphanet	494448	http://www.orpha.net/ORDO/Orphanet_494448
RERE-related neurodevelopmental syndrome	RERE-related neurodevelopmental syndrome	Orphanet	494344	http://www.orpha.net/ORDO/Orphanet_494344
Vulvar carcinoma	Vulvar carcinoma	Orphanet	494418	http://www.orpha.net/ORDO/Orphanet_494418
Sacrococcygeal teratoma	Sacrococcygeal teratoma	Orphanet	494421	http://www.orpha.net/ORDO/Orphanet_494421
Early-onset familial noncirrhotic portal hypertension	Early-onset familial noncirrhotic portal hypertension	Orphanet	494348	http://www.orpha.net/ORDO/Orphanet_494348
Squamous cell carcinoma of the hypopharynx	Squamous cell carcinoma of the hypopharynx	Orphanet	494547	http://www.orpha.net/ORDO/Orphanet_494547
Childhood-onset benign chorea with striatal involvement	Childhood-onset benign chorea with striatal involvement	Orphanet	494541	http://www.orpha.net/ORDO/Orphanet_494541
Infantile-onset generalized dyskinesia with orofacial involvement	Infantile-onset generalized dyskinesia with orofacial involvement	Orphanet	494526	http://www.orpha.net/ORDO/Orphanet_494526
Rare hyperkinetic movement disorder	Rare hyperkinetic movement disorder	Orphanet	494457	http://www.orpha.net/ORDO/Orphanet_494457
Squamous cell carcinoma of the larynx	Squamous cell carcinoma of the larynx	Orphanet	494550	http://www.orpha.net/ORDO/Orphanet_494550
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	Orphanet	500180	http://www.orpha.net/ORDO/Orphanet_500180
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome	X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome	Orphanet	500188	http://www.orpha.net/ORDO/Orphanet_500188
Amoebiasis due to free-living amoebae	Amoebiasis due to free-living amoebae	Orphanet	68	http://www.orpha.net/ORDO/Orphanet_68
Q fever	Q fever	Orphanet	781	http://www.orpha.net/ORDO/Orphanet_781
Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	Orphanet	500150	http://www.orpha.net/ORDO/Orphanet_500150
Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	Orphanet	500159	http://www.orpha.net/ORDO/Orphanet_500159
SIN3A-related intellectual disability syndrome	SIN3A-related intellectual disability syndrome	Orphanet	500163	http://www.orpha.net/ORDO/Orphanet_500163
Epidermodysplasia verruciformis	Epidermodysplasia verruciformis	Orphanet	302	http://www.orpha.net/ORDO/Orphanet_302
Tick-borne encephalitis	Tick-borne encephalitis	Orphanet	297	http://www.orpha.net/ORDO/Orphanet_297
SIN3A-related intellectual disability syndrome due to a point mutation	SIN3A-related intellectual disability syndrome due to a point mutation	Orphanet	500166	http://www.orpha.net/ORDO/Orphanet_500166
Chromomycosis	Chromomycosis	Orphanet	182	http://www.orpha.net/ORDO/Orphanet_182
Diphyllobothriasis	Diphyllobothriasis	Orphanet	128	http://www.orpha.net/ORDO/Orphanet_128
Demodicidosis	Demodicidosis	Orphanet	283	http://www.orpha.net/ORDO/Orphanet_283
Cyclosporosis	Cyclosporosis	Orphanet	210	http://www.orpha.net/ORDO/Orphanet_210
Strongyloidiasis	Strongyloidiasis	Orphanet	76	http://www.orpha.net/ORDO/Orphanet_76
Angiostrongyliasis	Angiostrongyliasis	Orphanet	74	http://www.orpha.net/ORDO/Orphanet_74
Babesiosis	Babesiosis	Orphanet	108	http://www.orpha.net/ORDO/Orphanet_108
Ankylostomiasis	Ankylostomiasis	Orphanet	78	http://www.orpha.net/ORDO/Orphanet_78
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome	Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome	Orphanet	500135	http://www.orpha.net/ORDO/Orphanet_500135
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	Orphanet	500144	http://www.orpha.net/ORDO/Orphanet_500144
16p13.2 microdeletion syndrome	16p13.2 microdeletion syndrome	Orphanet	500055	http://www.orpha.net/ORDO/Orphanet_500055
Tall stature-intellectual disability-renal anomalies syndrome	Tall stature-intellectual disability-renal anomalies syndrome	Orphanet	500095	http://www.orpha.net/ORDO/Orphanet_500095
Infantile-onset periodic fever-panniculitis-dermatosis syndrome	Infantile-onset periodic fever-panniculitis-dermatosis syndrome	Orphanet	500062	http://www.orpha.net/ORDO/Orphanet_500062
Pseudopelade of Brocq	Pseudopelade of Brocq	Orphanet	129	http://www.orpha.net/ORDO/Orphanet_129
Björnstad syndrome	Björnstad syndrome	Orphanet	123	http://www.orpha.net/ORDO/Orphanet_123
Wagner disease	Wagner disease	Orphanet	898	http://www.orpha.net/ORDO/Orphanet_898
Squamous cell carcinoma of the oropharynx	Squamous cell carcinoma of the oropharynx	Orphanet	500478	http://www.orpha.net/ORDO/Orphanet_500478
Acute megakaryoblastic leukemia	Acute megakaryoblastic leukemia	Orphanet	518	http://www.orpha.net/ORDO/Orphanet_518
Squamous cell carcinoma of salivary glands	Squamous cell carcinoma of salivary glands	Orphanet	500481	http://www.orpha.net/ORDO/Orphanet_500481
Acute erythroid leukemia	Acute erythroid leukemia	Orphanet	318	http://www.orpha.net/ORDO/Orphanet_318
Acute monoblastic/monocytic leukemia	Acute monoblastic/monocytic leukemia	Orphanet	514	http://www.orpha.net/ORDO/Orphanet_514
Acute myelomonocytic leukemia	Acute myelomonocytic leukemia	Orphanet	517	http://www.orpha.net/ORDO/Orphanet_517
Graham Little-Piccardi-Lassueur syndrome	Graham Little-Piccardi-Lassueur syndrome	Orphanet	505	http://www.orpha.net/ORDO/Orphanet_505
Quinquaud folliculitis decalvans	Quinquaud folliculitis decalvans	Orphanet	346	http://www.orpha.net/ORDO/Orphanet_346
Erosive pustular dermatosis of the scalp	Erosive pustular dermatosis of the scalp	Orphanet	222	http://www.orpha.net/ORDO/Orphanet_222
Crandall syndrome	Crandall syndrome	Orphanet	202	http://www.orpha.net/ORDO/Orphanet_202
Woolly hair	Woolly hair	Orphanet	170	http://www.orpha.net/ORDO/Orphanet_170
Osteosclerotic metaphyseal dysplasia	Osteosclerotic metaphyseal dysplasia	Orphanet	500548	http://www.orpha.net/ORDO/Orphanet_500548
Ringed hair disease	Ringed hair disease	Orphanet	169	http://www.orpha.net/ORDO/Orphanet_169
Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	Orphanet	500533	http://www.orpha.net/ORDO/Orphanet_500533
Loose anagen syndrome	Loose anagen syndrome	Orphanet	168	http://www.orpha.net/ORDO/Orphanet_168
Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract	Orphanet	500545	http://www.orpha.net/ORDO/Orphanet_500545
Dissecting cellulitis of the scalp	Dissecting cellulitis of the scalp	Orphanet	345	http://www.orpha.net/ORDO/Orphanet_345
Furuncular myiasis	Furuncular myiasis	Orphanet	591	http://www.orpha.net/ORDO/Orphanet_591
Pneumocystosis	Pneumocystosis	Orphanet	723	http://www.orpha.net/ORDO/Orphanet_723
Isosporiasis	Isosporiasis	Orphanet	472	http://www.orpha.net/ORDO/Orphanet_472
Creeping myiasis	Creeping myiasis	Orphanet	504	http://www.orpha.net/ORDO/Orphanet_504
Hymenolepiasis	Hymenolepiasis	Orphanet	401	http://www.orpha.net/ORDO/Orphanet_401
Histoplasmosis	Histoplasmosis	Orphanet	390	http://www.orpha.net/ORDO/Orphanet_390
Cystic echinococcosis	Cystic echinococcosis	Orphanet	400	http://www.orpha.net/ORDO/Orphanet_400
Squamous cell carcinoma of the nasal cavity and paranasal sinuses	Squamous cell carcinoma of the nasal cavity and paranasal sinuses	Orphanet	500464	http://www.orpha.net/ORDO/Orphanet_500464
Acute promyelocytic leukemia	Acute promyelocytic leukemia	Orphanet	520	http://www.orpha.net/ORDO/Orphanet_520
Heterotaxia	Heterotaxia	Orphanet	450	http://www.orpha.net/ORDO/Orphanet_450
Roch-Leri mesosomatous lipomatosis	Roch-Leri mesosomatous lipomatosis	Orphanet	529	http://www.orpha.net/ORDO/Orphanet_529
Neonatal diabetes mellitus	Neonatal diabetes mellitus	Orphanet	224	http://www.orpha.net/ORDO/Orphanet_224
Sporotrichosis	Sporotrichosis	Orphanet	826	http://www.orpha.net/ORDO/Orphanet_826
Tungiasis	Tungiasis	Orphanet	879	http://www.orpha.net/ORDO/Orphanet_879
Cochleovestibular dysplasia	Cochleovestibular dysplasia	Orphanet	502305	http://www.orpha.net/ORDO/Orphanet_502305
Cochlear nerve deficiency	Cochlear nerve deficiency	Orphanet	502318	http://www.orpha.net/ORDO/Orphanet_502318
Squamous cell carcinoma of the oral cavity	Squamous cell carcinoma of the oral cavity	Orphanet	502363	http://www.orpha.net/ORDO/Orphanet_502363
Squamous cell carcinoma of the lip	Squamous cell carcinoma of the lip	Orphanet	502366	http://www.orpha.net/ORDO/Orphanet_502366
Squamous cell carcinoma of oral cavity and lip	Squamous cell carcinoma of oral cavity and lip	Orphanet	502369	http://www.orpha.net/ORDO/Orphanet_502369
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	Orphanet	502423	http://www.orpha.net/ORDO/Orphanet_502423
Metopic ridging-ptosis-facial dysmorphism syndrome	Metopic ridging-ptosis-facial dysmorphism syndrome	Orphanet	502430	http://www.orpha.net/ORDO/Orphanet_502430
STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	Orphanet	502434	http://www.orpha.net/ORDO/Orphanet_502434
4q25 proximal deletion syndrome	4q25 proximal deletion syndrome	Orphanet	502437	http://www.orpha.net/ORDO/Orphanet_502437
Erythema multiforme major	Erythema multiforme major	Orphanet	502499	http://www.orpha.net/ORDO/Orphanet_502499
Alkaline ceramidase 3 deficiency	Alkaline ceramidase 3 deficiency	Orphanet	502444	http://www.orpha.net/ORDO/Orphanet_502444
Normosmic congenital hypogonadotropic hypogonadism	Normosmic congenital hypogonadotropic hypogonadism	Orphanet	432	http://www.orpha.net/ORDO/Orphanet_432
Aromatase deficiency	Aromatase deficiency	Orphanet	91	http://www.orpha.net/ORDO/Orphanet_91
Estrogen resistance syndrome	Estrogen resistance syndrome	Orphanet	785	http://www.orpha.net/ORDO/Orphanet_785
NON RARE IN EUROPE: Atypical mole	NON RARE IN EUROPE: Atypical mole	Orphanet	625	http://www.orpha.net/ORDO/Orphanet_625
Desmoid tumor	Desmoid tumor	Orphanet	873	http://www.orpha.net/ORDO/Orphanet_873
Cushing syndrome	Cushing syndrome	Orphanet	553	http://www.orpha.net/ORDO/Orphanet_553
Malignant atrophic papulosis	Malignant atrophic papulosis	Orphanet	679	http://www.orpha.net/ORDO/Orphanet_679
Wells syndrome	Wells syndrome	Orphanet	901	http://www.orpha.net/ORDO/Orphanet_901
Bullous pemphigoid	Bullous pemphigoid	Orphanet	703	http://www.orpha.net/ORDO/Orphanet_703
Sebocystomatosis	Sebocystomatosis	Orphanet	841	http://www.orpha.net/ORDO/Orphanet_841
Peeling skin syndrome	Peeling skin syndrome	Orphanet	817	http://www.orpha.net/ORDO/Orphanet_817
NON RARE IN EUROPE: Stuccokeratosis	NON RARE IN EUROPE: Stuccokeratosis	Orphanet	830	http://www.orpha.net/ORDO/Orphanet_830
Familial multiple trichoepithelioma	Familial multiple trichoepithelioma	Orphanet	867	http://www.orpha.net/ORDO/Orphanet_867
Porokeratosis of Mibelli	Porokeratosis of Mibelli	Orphanet	735	http://www.orpha.net/ORDO/Orphanet_735
Childhood-onset basal ganglia degeneration syndrome	Childhood-onset basal ganglia degeneration syndrome	Orphanet	497906	http://www.orpha.net/ORDO/Orphanet_497906
Mutilating palmoplantar keratoderma with periorificial keratotic plaques	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	Orphanet	659	http://www.orpha.net/ORDO/Orphanet_659
Porokeratosis plantaris palmaris et disseminata	Porokeratosis plantaris palmaris et disseminata	Orphanet	737	http://www.orpha.net/ORDO/Orphanet_737
Palmoplantar porokeratosis of Mantoux	Palmoplantar porokeratosis of Mantoux	Orphanet	736	http://www.orpha.net/ORDO/Orphanet_736
C12ORF65-related combined oxidative phosphorylation defect	C12ORF65-related combined oxidative phosphorylation defect	Orphanet	497623	http://www.orpha.net/ORDO/Orphanet_497623
Hereditary leiomyomatosis and renal cell cancer	Hereditary leiomyomatosis and renal cell cancer	Orphanet	523	http://www.orpha.net/ORDO/Orphanet_523
Epidermolytic nevus	Epidermolytic nevus	Orphanet	497737	http://www.orpha.net/ORDO/Orphanet_497737
Erythroderma desquamativum	Erythroderma desquamativum	Orphanet	314	http://www.orpha.net/ORDO/Orphanet_314
MME-related autosomal dominant Charcot Marie Tooth disease type 2	MME-related autosomal dominant Charcot Marie Tooth disease type 2	Orphanet	497757	http://www.orpha.net/ORDO/Orphanet_497757
NAME syndrome	NAME syndrome	Orphanet	623	http://www.orpha.net/ORDO/Orphanet_623
Spinocerebellar ataxia type 43	Spinocerebellar ataxia type 43	Orphanet	497764	http://www.orpha.net/ORDO/Orphanet_497764
Lipoid proteinosis	Lipoid proteinosis	Orphanet	530	http://www.orpha.net/ORDO/Orphanet_530
Familial keratoacanthoma	Familial keratoacanthoma	Orphanet	493	http://www.orpha.net/ORDO/Orphanet_493
NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris	NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris	Orphanet	462	http://www.orpha.net/ORDO/Orphanet_462
Diffuse intrinsic pontine glioma	Diffuse intrinsic pontine glioma	Orphanet	497188	http://www.orpha.net/ORDO/Orphanet_497188
Keratosis pilaris atrophicans	Keratosis pilaris atrophicans	Orphanet	498	http://www.orpha.net/ORDO/Orphanet_498
Rare genetic hyperkinetic movement disorder	Rare genetic hyperkinetic movement disorder	Orphanet	496916	http://www.orpha.net/ORDO/Orphanet_496916
Non-inflammatory vasculopathy	Non-inflammatory vasculopathy	Orphanet	496924	http://www.orpha.net/ORDO/Orphanet_496924
Acquired ichthyosis	Acquired ichthyosis	Orphanet	454	http://www.orpha.net/ORDO/Orphanet_454
Omphalomesenteric cyst	Omphalomesenteric cyst	Orphanet	490	http://www.orpha.net/ORDO/Orphanet_490
Non-syndromic postaxial polydactyly	Non-syndromic postaxial polydactyly	Orphanet	498467	http://www.orpha.net/ORDO/Orphanet_498467
Non-syndromic preaxial polydactyly	Non-syndromic preaxial polydactyly	Orphanet	498464	http://www.orpha.net/ORDO/Orphanet_498464
Digestive duplication	Digestive duplication	Orphanet	238	http://www.orpha.net/ORDO/Orphanet_238
Terminal transverse limb defect	Terminal transverse limb defect	Orphanet	498461	http://www.orpha.net/ORDO/Orphanet_498461
Congenital primary megaureter	Congenital primary megaureter	Orphanet	617	http://www.orpha.net/ORDO/Orphanet_617
Urachal cyst	Urachal cyst	Orphanet	488	http://www.orpha.net/ORDO/Orphanet_488
Longitudinal limb defect	Longitudinal limb defect	Orphanet	498457	http://www.orpha.net/ORDO/Orphanet_498457
Dysostosis with brachydactyly with extraskeletal manifestations	Dysostosis with brachydactyly with extraskeletal manifestations	Orphanet	498454	http://www.orpha.net/ORDO/Orphanet_498454
Atresia of urethra	Atresia of urethra	Orphanet	105	http://www.orpha.net/ORDO/Orphanet_105
Dysostosis with brachydactyly without extraskeletal manifestations	Dysostosis with brachydactyly without extraskeletal manifestations	Orphanet	498451	http://www.orpha.net/ORDO/Orphanet_498451
Duplication of urethra	Duplication of urethra	Orphanet	237	http://www.orpha.net/ORDO/Orphanet_237
Overgrowth or tall stature syndrome with skeletal involvement	Overgrowth or tall stature syndrome with skeletal involvement	Orphanet	498448	http://www.orpha.net/ORDO/Orphanet_498448
Alpha delta granule deficiency	Alpha delta granule deficiency	Orphanet	734	http://www.orpha.net/ORDO/Orphanet_734
Gray platelet syndrome	Gray platelet syndrome	Orphanet	721	http://www.orpha.net/ORDO/Orphanet_721
Genetic inflammatory or rheumatoid-like osteoarthropathy	Genetic inflammatory or rheumatoid-like osteoarthropathy	Orphanet	498445	http://www.orpha.net/ORDO/Orphanet_498445
Hypoplasminogenemia	Hypoplasminogenemia	Orphanet	722	http://www.orpha.net/ORDO/Orphanet_722
Congenital prekallikrein deficiency	Congenital prekallikrein deficiency	Orphanet	749	http://www.orpha.net/ORDO/Orphanet_749
Fetal and neonatal alloimmune thrombocytopenia	Fetal and neonatal alloimmune thrombocytopenia	Orphanet	853	http://www.orpha.net/ORDO/Orphanet_853
Congenital high-molecular-weight kininogen deficiency	Congenital high-molecular-weight kininogen deficiency	Orphanet	483	http://www.orpha.net/ORDO/Orphanet_483
Aquagenic palmoplantar keratoderma	Aquagenic palmoplantar keratoderma	Orphanet	498359	http://www.orpha.net/ORDO/Orphanet_498359
X-linked thrombocytopenia with normal platelets	X-linked thrombocytopenia with normal platelets	Orphanet	852	http://www.orpha.net/ORDO/Orphanet_852
Syndromic biliary atresia	Syndromic biliary atresia	Orphanet	498350	http://www.orpha.net/ORDO/Orphanet_498350
Congenital plasminogen activator inhibitor type 1 deficiency	Congenital plasminogen activator inhibitor type 1 deficiency	Orphanet	465	http://www.orpha.net/ORDO/Orphanet_465
Biliary atresia and associated disorders	Biliary atresia and associated disorders	Orphanet	498345	http://www.orpha.net/ORDO/Orphanet_498345
Reflex epilepsy	Reflex epilepsy	Orphanet	310	http://www.orpha.net/ORDO/Orphanet_310
Menstrual cycle-dependent periodic fever	Menstrual cycle-dependent periodic fever	Orphanet	498251	http://www.orpha.net/ORDO/Orphanet_498251
Medullary thyroid carcinoma	Medullary thyroid carcinoma	Orphanet	1332	http://www.orpha.net/ORDO/Orphanet_1332
Neuroendocrine neoplasm	Neuroendocrine neoplasm	Orphanet	877	http://www.orpha.net/ORDO/Orphanet_877
Gorham-Stout disease	Gorham-Stout disease	Orphanet	73	http://www.orpha.net/ORDO/Orphanet_73
Phyllodes tumor of the prostate	Phyllodes tumor of the prostate	Orphanet	498228	http://www.orpha.net/ORDO/Orphanet_498228
Relapsing polychondritis	Relapsing polychondritis	Orphanet	728	http://www.orpha.net/ORDO/Orphanet_728
Non-acquired combined pituitary hormone deficiency	Non-acquired combined pituitary hormone deficiency	Orphanet	467	http://www.orpha.net/ORDO/Orphanet_467
NON RARE IN EUROPE: Adrenal incidentaloma	NON RARE IN EUROPE: Adrenal incidentaloma	Orphanet	463	http://www.orpha.net/ORDO/Orphanet_463
Anaplastic thyroid carcinoma	Anaplastic thyroid carcinoma	Orphanet	142	http://www.orpha.net/ORDO/Orphanet_142
Parathyroid carcinoma	Parathyroid carcinoma	Orphanet	143	http://www.orpha.net/ORDO/Orphanet_143
Central precocious puberty	Central precocious puberty	Orphanet	759	http://www.orpha.net/ORDO/Orphanet_759
Generalized glucocorticoid resistance syndrome	Generalized glucocorticoid resistance syndrome	Orphanet	786	http://www.orpha.net/ORDO/Orphanet_786
Idiopathic pulmonary artery dilatation	Idiopathic pulmonary artery dilatation	Orphanet	1676	http://www.orpha.net/ORDO/Orphanet_1676
Dextrocardia	Dextrocardia	Orphanet	1666	http://www.orpha.net/ORDO/Orphanet_1666
Criss-cross heart	Criss-cross heart	Orphanet	1461	http://www.orpha.net/ORDO/Orphanet_1461
Mitral atresia	Mitral atresia	Orphanet	1205	http://www.orpha.net/ORDO/Orphanet_1205
Supravalvular pulmonary stenosis	Supravalvular pulmonary stenosis	Orphanet	3192	http://www.orpha.net/ORDO/Orphanet_3192
Primary pediatric heart tumor	Primary pediatric heart tumor	Orphanet	875	http://www.orpha.net/ORDO/Orphanet_875
Chronic relapsing inflammatory optic neuropathy	Chronic relapsing inflammatory optic neuropathy	Orphanet	499085	http://www.orpha.net/ORDO/Orphanet_499085
Familial atrial fibrillation	Familial atrial fibrillation	Orphanet	334	http://www.orpha.net/ORDO/Orphanet_334
Familial atrial myxoma	Familial atrial myxoma	Orphanet	615	http://www.orpha.net/ORDO/Orphanet_615
Limbic encephalitis with neurexin-3 antibodies	Limbic encephalitis with neurexin-3 antibodies	Orphanet	498700	http://www.orpha.net/ORDO/Orphanet_498700
Primary adult heart tumor	Primary adult heart tumor	Orphanet	874	http://www.orpha.net/ORDO/Orphanet_874
Congenital syphilis	Congenital syphilis	Orphanet	499009	http://www.orpha.net/ORDO/Orphanet_499009
Tuberculous meningitis	Tuberculous meningitis	Orphanet	499004	http://www.orpha.net/ORDO/Orphanet_499004
Partial atrioventricular septal defect	Partial atrioventricular septal defect	Orphanet	1330	http://www.orpha.net/ORDO/Orphanet_1330
Autoimmune/inflammatory optic neuropathy	Autoimmune/inflammatory optic neuropathy	Orphanet	499047	http://www.orpha.net/ORDO/Orphanet_499047
Familial idiopathic dilatation of the right atrium	Familial idiopathic dilatation of the right atrium	Orphanet	1677	http://www.orpha.net/ORDO/Orphanet_1677
Short rib-polydactyly syndrome type 5	Short rib-polydactyly syndrome type 5	Orphanet	498497	http://www.orpha.net/ORDO/Orphanet_498497
Pili bifurcati	Pili bifurcati	Orphanet	720	http://www.orpha.net/ORDO/Orphanet_720
Primary cutis verticis gyrata	Primary cutis verticis gyrata	Orphanet	671	http://www.orpha.net/ORDO/Orphanet_671
Trichofolliculoma	Trichofolliculoma	Orphanet	864	http://www.orpha.net/ORDO/Orphanet_864
Sugarman brachydactyly	Sugarman brachydactyly	Orphanet	498602	http://www.orpha.net/ORDO/Orphanet_498602
Arrhythmogenic right ventricular cardiomyopathy	Arrhythmogenic right ventricular cardiomyopathy	Orphanet	247	http://www.orpha.net/ORDO/Orphanet_247
MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	Orphanet	498693	http://www.orpha.net/ORDO/Orphanet_498693
Non-syndromic complex polydactyly	Non-syndromic complex polydactyly	Orphanet	498470	http://www.orpha.net/ORDO/Orphanet_498470
Marie Unna hereditary hypotrichosis	Marie Unna hereditary hypotrichosis	Orphanet	444	http://www.orpha.net/ORDO/Orphanet_444
Acquired hypertrichosis lanuginosa	Acquired hypertrichosis lanuginosa	Orphanet	2221	http://www.orpha.net/ORDO/Orphanet_2221
Hyaline fibromatosis syndrome	Hyaline fibromatosis syndrome	Orphanet	498474	http://www.orpha.net/ORDO/Orphanet_498474
Proliferating trichilemmal cyst	Proliferating trichilemmal cyst	Orphanet	492	http://www.orpha.net/ORDO/Orphanet_492
Ectrodactyly with and without other manifestations	Ectrodactyly with and without other manifestations	Orphanet	498477	http://www.orpha.net/ORDO/Orphanet_498477
LRP5-related primary osteoporosis	LRP5-related primary osteoporosis	Orphanet	498481	http://www.orpha.net/ORDO/Orphanet_498481
Kerion celsi	Kerion celsi	Orphanet	499	http://www.orpha.net/ORDO/Orphanet_499
Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome	Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome	Orphanet	498485	http://www.orpha.net/ORDO/Orphanet_498485
Monilethrix	Monilethrix	Orphanet	573	http://www.orpha.net/ORDO/Orphanet_573
Overgrowth syndrome with 2q37 translocation	Overgrowth syndrome with 2q37 translocation	Orphanet	498488	http://www.orpha.net/ORDO/Orphanet_498488
Lichen planopilaris	Lichen planopilaris	Orphanet	525	http://www.orpha.net/ORDO/Orphanet_525
Complete hemimelia	Complete hemimelia	Orphanet	498491	http://www.orpha.net/ORDO/Orphanet_498491
Alopecia totalis	Alopecia totalis	Orphanet	700	http://www.orpha.net/ORDO/Orphanet_700
Syringocystadenoma papilliferum	Syringocystadenoma papilliferum	Orphanet	840	http://www.orpha.net/ORDO/Orphanet_840
Mirror-image polydactyly	Mirror-image polydactyly	Orphanet	498494	http://www.orpha.net/ORDO/Orphanet_498494
Huriez syndrome	Huriez syndrome	Orphanet	384	http://www.orpha.net/ORDO/Orphanet_384
Erythrokeratoderma ''en cocardes''	Erythrokeratoderma ''en cocardes''	Orphanet	315	http://www.orpha.net/ORDO/Orphanet_315
Familial multiple fibrofolliculoma	Familial multiple fibrofolliculoma	Orphanet	338	http://www.orpha.net/ORDO/Orphanet_338
Hyperkeratosis lenticularis perstans	Hyperkeratosis lenticularis perstans	Orphanet	409	http://www.orpha.net/ORDO/Orphanet_409
Thost-Unna palmoplantar keratoderma	Thost-Unna palmoplantar keratoderma	Orphanet	496	http://www.orpha.net/ORDO/Orphanet_496
Dyschromatosis symmetrica hereditaria	Dyschromatosis symmetrica hereditaria	Orphanet	41	http://www.orpha.net/ORDO/Orphanet_41
Birt-Hogg-Dubé syndrome	Birt-Hogg-Dubé syndrome	Orphanet	122	http://www.orpha.net/ORDO/Orphanet_122
Acrokeratoelastoidosis of Costa	Acrokeratoelastoidosis of Costa	Orphanet	38	http://www.orpha.net/ORDO/Orphanet_38
Acromelanosis	Acromelanosis	Orphanet	39	http://www.orpha.net/ORDO/Orphanet_39
Dyschromatosis universalis hereditaria	Dyschromatosis universalis hereditaria	Orphanet	241	http://www.orpha.net/ORDO/Orphanet_241
Progressive symmetric erythrokeratodermia	Progressive symmetric erythrokeratodermia	Orphanet	316	http://www.orpha.net/ORDO/Orphanet_316
Familial cylindromatosis	Familial cylindromatosis	Orphanet	211	http://www.orpha.net/ORDO/Orphanet_211
Non-histaminic angioedema	Non-histaminic angioedema	Orphanet	658	http://www.orpha.net/ORDO/Orphanet_658
Multifocal atrial tachycardia	Multifocal atrial tachycardia	Orphanet	3282	http://www.orpha.net/ORDO/Orphanet_3282
Systemic capillary leak syndrome	Systemic capillary leak syndrome	Orphanet	188	http://www.orpha.net/ORDO/Orphanet_188
Dystrophic epidermolysis bullosa	Dystrophic epidermolysis bullosa	Orphanet	303	http://www.orpha.net/ORDO/Orphanet_303
Junctional epidermolysis bullosa	Junctional epidermolysis bullosa	Orphanet	305	http://www.orpha.net/ORDO/Orphanet_305
Ulerythema ophryogenesis	Ulerythema ophryogenesis	Orphanet	3406	http://www.orpha.net/ORDO/Orphanet_3406
Pilomatrix carcinoma	Pilomatrix carcinoma	Orphanet	499182	http://www.orpha.net/ORDO/Orphanet_499182
Kindler syndrome	Kindler syndrome	Orphanet	2908	http://www.orpha.net/ORDO/Orphanet_2908
Antisynthetase syndrome	Antisynthetase syndrome	Orphanet	81	http://www.orpha.net/ORDO/Orphanet_81
Idiopathic optic perineuritis	Idiopathic optic perineuritis	Orphanet	499107	http://www.orpha.net/ORDO/Orphanet_499107
Peripartum cardiomyopathy	Peripartum cardiomyopathy	Orphanet	563	http://www.orpha.net/ORDO/Orphanet_563
Pyomyositis	Pyomyositis	Orphanet	764	http://www.orpha.net/ORDO/Orphanet_764
Isolated optic neuritis	Isolated optic neuritis	Orphanet	499096	http://www.orpha.net/ORDO/Orphanet_499096
Reynolds syndrome	Reynolds syndrome	Orphanet	779	http://www.orpha.net/ORDO/Orphanet_779
Recurrent idiopathic neuroretinitis	Recurrent idiopathic neuroretinitis	Orphanet	499103	http://www.orpha.net/ORDO/Orphanet_499103
Susac syndrome	Susac syndrome	Orphanet	838	http://www.orpha.net/ORDO/Orphanet_838
Cutaneous small vessel vasculitis	Cutaneous small vessel vasculitis	Orphanet	889	http://www.orpha.net/ORDO/Orphanet_889
Kimura disease	Kimura disease	Orphanet	482	http://www.orpha.net/ORDO/Orphanet_482
Congenital bile acid synthesis defect	Congenital bile acid synthesis defect	Orphanet	485631	http://www.orpha.net/ORDO/Orphanet_485631
Isolated congenital hepatic fibrosis	Isolated congenital hepatic fibrosis	Orphanet	485426	http://www.orpha.net/ORDO/Orphanet_485426
Prenatal-onset spinal muscular atrophy with congenital bone fractures	Prenatal-onset spinal muscular atrophy with congenital bone fractures	Orphanet	486811	http://www.orpha.net/ORDO/Orphanet_486811
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	Orphanet	486815	http://www.orpha.net/ORDO/Orphanet_486815
EMILIN-1-related connective tissue disease	EMILIN-1-related connective tissue disease	Orphanet	485418	http://www.orpha.net/ORDO/Orphanet_485418
MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	Orphanet	485421	http://www.orpha.net/ORDO/Orphanet_485421
Genetic non-acquired premature ovarian failure	Genetic non-acquired premature ovarian failure	Orphanet	485382	http://www.orpha.net/ORDO/Orphanet_485382
16p12.1p12.3 triplication syndrome	16p12.1p12.3 triplication syndrome	Orphanet	485405	http://www.orpha.net/ORDO/Orphanet_485405
CLCN4-related X-linked intellectual disability syndrome	CLCN4-related X-linked intellectual disability syndrome	Orphanet	485350	http://www.orpha.net/ORDO/Orphanet_485350
Propylthiouracil embryofetopathy	Propylthiouracil embryofetopathy	Orphanet	485358	http://www.orpha.net/ORDO/Orphanet_485358
Acquired schizencephaly	Acquired schizencephaly	Orphanet	485275	http://www.orpha.net/ORDO/Orphanet_485275
X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome	X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome	Orphanet	482606	http://www.orpha.net/ORDO/Orphanet_482606
Rare idiopathic macular telangiectasia	Rare idiopathic macular telangiectasia	Orphanet	482092	http://www.orpha.net/ORDO/Orphanet_482092
Adenylosuccinate synthetase-like 1-related distal myopathy	Adenylosuccinate synthetase-like 1-related distal myopathy	Orphanet	482601	http://www.orpha.net/ORDO/Orphanet_482601
Digitalis poisoning	Digitalis poisoning	Orphanet	31828	http://www.orpha.net/ORDO/Orphanet_31828
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	Orphanet	480864	http://www.orpha.net/ORDO/Orphanet_480864
Pulmonary venoocclusive disease	Pulmonary venoocclusive disease	Orphanet	31837	http://www.orpha.net/ORDO/Orphanet_31837
X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	Orphanet	480907	http://www.orpha.net/ORDO/Orphanet_480907
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	Orphanet	480898	http://www.orpha.net/ORDO/Orphanet_480898
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	Orphanet	480880	http://www.orpha.net/ORDO/Orphanet_480880
Hypersensitivity pneumonitis	Hypersensitivity pneumonitis	Orphanet	31740	http://www.orpha.net/ORDO/Orphanet_31740
Isolated neonatal sclerosing cholangitis	Isolated neonatal sclerosing cholangitis	Orphanet	480556	http://www.orpha.net/ORDO/Orphanet_480556
Aneurysmal bone cyst	Aneurysmal bone cyst	Orphanet	480553	http://www.orpha.net/ORDO/Orphanet_480553
Non-severe combined immunodeficiency	Non-severe combined immunodeficiency	Orphanet	480549	http://www.orpha.net/ORDO/Orphanet_480549
High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement	High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement	Orphanet	480541	http://www.orpha.net/ORDO/Orphanet_480541
Infantile convulsions and choreoathetosis	Infantile convulsions and choreoathetosis	Orphanet	31709	http://www.orpha.net/ORDO/Orphanet_31709
Ethylene glycol poisoning	Ethylene glycol poisoning	Orphanet	31826	http://www.orpha.net/ORDO/Orphanet_31826
Hereditary thrombocytopenia with early-onset myelofibrosis	Hereditary thrombocytopenia with early-onset myelofibrosis	Orphanet	480851	http://www.orpha.net/ORDO/Orphanet_480851
Paraquat poisoning	Paraquat poisoning	Orphanet	31827	http://www.orpha.net/ORDO/Orphanet_31827
Colchicine poisoning	Colchicine poisoning	Orphanet	31824	http://www.orpha.net/ORDO/Orphanet_31824
Facial diplegia with paresthesias	Facial diplegia with paresthesias	Orphanet	480701	http://www.orpha.net/ORDO/Orphanet_480701
POGLUT1-related  limb-girdle muscular dystrophy R21	POGLUT1-related  limb-girdle muscular dystrophy R21	Orphanet	480682	http://www.orpha.net/ORDO/Orphanet_480682
Methanol poisoning	Methanol poisoning	Orphanet	31825	http://www.orpha.net/ORDO/Orphanet_31825
USP18 deficiency	USP18 deficiency	Orphanet	481665	http://www.orpha.net/ORDO/Orphanet_481665
Type 1 interferonopathy of childhood	Type 1 interferonopathy of childhood	Orphanet	481671	http://www.orpha.net/ORDO/Orphanet_481671
HTRA1-related cerebral small vessel disease	HTRA1-related cerebral small vessel disease	Orphanet	482072	http://www.orpha.net/ORDO/Orphanet_482072
HTRA1-related autosomal dominant cerebral small vessel disease	HTRA1-related autosomal dominant cerebral small vessel disease	Orphanet	482077	http://www.orpha.net/ORDO/Orphanet_482077
Genetic alopecia	Genetic alopecia	Orphanet	481771	http://www.orpha.net/ORDO/Orphanet_481771
Familial schizencephaly	Familial schizencephaly	Orphanet	481986	http://www.orpha.net/ORDO/Orphanet_481986
PYCR2-related microcephaly-progressive leukoencephalopathy	PYCR2-related microcephaly-progressive leukoencephalopathy	Orphanet	481152	http://www.orpha.net/ORDO/Orphanet_481152
Familial Chilblain lupus	Familial Chilblain lupus	Orphanet	481662	http://www.orpha.net/ORDO/Orphanet_481662
Gastroenteric neuroendocrine neoplasm	Gastroenteric neuroendocrine neoplasm	Orphanet	481508	http://www.orpha.net/ORDO/Orphanet_481508
Progressive familial intrahepatic cholestasis type 5	Progressive familial intrahepatic cholestasis type 5	Orphanet	480476	http://www.orpha.net/ORDO/Orphanet_480476
MYO5B-related progressive familial intrahepatic cholestasis	MYO5B-related progressive familial intrahepatic cholestasis	Orphanet	480491	http://www.orpha.net/ORDO/Orphanet_480491
Progressive familial intrahepatic cholestasis type 4	Progressive familial intrahepatic cholestasis type 4	Orphanet	480483	http://www.orpha.net/ORDO/Orphanet_480483
Lethal hydranencephaly-diaphragmatic hernia syndrome	Lethal hydranencephaly-diaphragmatic hernia syndrome	Orphanet	480528	http://www.orpha.net/ORDO/Orphanet_480528
Idiopathic peliosis hepatis	Idiopathic peliosis hepatis	Orphanet	480524	http://www.orpha.net/ORDO/Orphanet_480524
MSH3-related attenuated familial adenomatous polyposis	MSH3-related attenuated familial adenomatous polyposis	Orphanet	480536	http://www.orpha.net/ORDO/Orphanet_480536
Congenital portosystemic shunt	Congenital portosystemic shunt	Orphanet	480531	http://www.orpha.net/ORDO/Orphanet_480531
Primary intrahepatic lithiasis	Primary intrahepatic lithiasis	Orphanet	480506	http://www.orpha.net/ORDO/Orphanet_480506
Choledochal cyst	Choledochal cyst	Orphanet	480501	http://www.orpha.net/ORDO/Orphanet_480501
Caroli syndrome	Caroli syndrome	Orphanet	480520	http://www.orpha.net/ORDO/Orphanet_480520
Idiopathic ductopenia	Idiopathic ductopenia	Orphanet	480512	http://www.orpha.net/ORDO/Orphanet_480512
Rare hypercholesterolemia	Rare hypercholesterolemia	Orphanet	477811	http://www.orpha.net/ORDO/Orphanet_477811
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Orphanet	477814	http://www.orpha.net/ORDO/Orphanet_477814
Genetic cardiac malformation	Genetic cardiac malformation	Orphanet	477805	http://www.orpha.net/ORDO/Orphanet_477805
Other genetic dermis disorder	Other genetic dermis disorder	Orphanet	477808	http://www.orpha.net/ORDO/Orphanet_477808
Syndromic constitutional thrombocytopenia	Syndromic constitutional thrombocytopenia	Orphanet	477794	http://www.orpha.net/ORDO/Orphanet_477794
Isolated constitutional thrombocytopenia	Isolated constitutional thrombocytopenia	Orphanet	477797	http://www.orpha.net/ORDO/Orphanet_477797
Primary condylar hyperplasia	Primary condylar hyperplasia	Orphanet	477781	http://www.orpha.net/ORDO/Orphanet_477781
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder	Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder	Orphanet	477787	http://www.orpha.net/ORDO/Orphanet_477787
Combined oxidative phosphorylation defect type 29	Combined oxidative phosphorylation defect type 29	Orphanet	478029	http://www.orpha.net/ORDO/Orphanet_478029
Combined oxidative phosphorylation defect type 30	Combined oxidative phosphorylation defect type 30	Orphanet	478042	http://www.orpha.net/ORDO/Orphanet_478042
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	Orphanet	477993	http://www.orpha.net/ORDO/Orphanet_477993
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	Orphanet	477857	http://www.orpha.net/ORDO/Orphanet_477857
PMP22-RAI1 contiguous gene duplication syndrome	PMP22-RAI1 contiguous gene duplication syndrome	Orphanet	477817	http://www.orpha.net/ORDO/Orphanet_477817
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome	Orphanet	477831	http://www.orpha.net/ORDO/Orphanet_477831
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	Orphanet	478049	http://www.orpha.net/ORDO/Orphanet_478049
Hereditary sensory and autonomic neuropathy type 8	Hereditary sensory and autonomic neuropathy type 8	Orphanet	478664	http://www.orpha.net/ORDO/Orphanet_478664
Type 1 interferonopathy	Type 1 interferonopathy	Orphanet	477647	http://www.orpha.net/ORDO/Orphanet_477647
Fibroblastic rheumatism	Fibroblastic rheumatism	Orphanet	477650	http://www.orpha.net/ORDO/Orphanet_477650
IL21-related infantile inflammatory bowel disease	IL21-related infantile inflammatory bowel disease	Orphanet	477661	http://www.orpha.net/ORDO/Orphanet_477661
Combined oxidative phosphorylation defect type 26	Combined oxidative phosphorylation defect type 26	Orphanet	477684	http://www.orpha.net/ORDO/Orphanet_477684
Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	Orphanet	477673	http://www.orpha.net/ORDO/Orphanet_477673
Pediatric multiple sclerosis	Pediatric multiple sclerosis	Orphanet	477738	http://www.orpha.net/ORDO/Orphanet_477738
Pontine autosomal dominant microangiopathy with leukoencephalopathy	Pontine autosomal dominant microangiopathy with leukoencephalopathy	Orphanet	477749	http://www.orpha.net/ORDO/Orphanet_477749
Nodular fasciitis	Nodular fasciitis	Orphanet	477742	http://www.orpha.net/ORDO/Orphanet_477742
COL4A1 or COL4A2-related cerebral small vessel disease	COL4A1 or COL4A2-related cerebral small vessel disease	Orphanet	477759	http://www.orpha.net/ORDO/Orphanet_477759
Genetic cerebral small vessel disease	Genetic cerebral small vessel disease	Orphanet	477754	http://www.orpha.net/ORDO/Orphanet_477754
COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy	COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy	Orphanet	477765	http://www.orpha.net/ORDO/Orphanet_477765
COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy	COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy	Orphanet	477762	http://www.orpha.net/ORDO/Orphanet_477762
Rare disorder with a moyamoya angiopathy	Rare disorder with a moyamoya angiopathy	Orphanet	477771	http://www.orpha.net/ORDO/Orphanet_477771
Moyamoya angiopathy	Moyamoya angiopathy	Orphanet	477768	http://www.orpha.net/ORDO/Orphanet_477768
Combined oxidative phosphorylation defect type 27	Combined oxidative phosphorylation defect type 27	Orphanet	477774	http://www.orpha.net/ORDO/Orphanet_477774
Demyelinating hereditary motor and sensory neuropathy	Demyelinating hereditary motor and sensory neuropathy	Orphanet	476116	http://www.orpha.net/ORDO/Orphanet_476116
Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome	Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome	Orphanet	476119	http://www.orpha.net/ORDO/Orphanet_476119
Axonal hereditary motor and sensory neuropathy	Axonal hereditary motor and sensory neuropathy	Orphanet	476109	http://www.orpha.net/ORDO/Orphanet_476109
Combined immunodeficiency due to TFRC deficiency	Combined immunodeficiency due to TFRC deficiency	Orphanet	476113	http://www.orpha.net/ORDO/Orphanet_476113
Intermediate Charcot-Marie-Tooth disease	Intermediate Charcot-Marie-Tooth disease	Orphanet	476123	http://www.orpha.net/ORDO/Orphanet_476123
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	Orphanet	476126	http://www.orpha.net/ORDO/Orphanet_476126
Congenital generalized hypercontractile muscle stiffness syndrome	Congenital generalized hypercontractile muscle stiffness syndrome	Orphanet	476406	http://www.orpha.net/ORDO/Orphanet_476406
PMP2-related Charcot-Marie-Tooth disease type 1	PMP2-related Charcot-Marie-Tooth disease type 1	Orphanet	476394	http://www.orpha.net/ORDO/Orphanet_476394
Hypercontractile muscle stiffness syndrome	Hypercontractile muscle stiffness syndrome	Orphanet	476403	http://www.orpha.net/ORDO/Orphanet_476403
Vibratory urticaria	Vibratory urticaria	Orphanet	493342	http://www.orpha.net/ORDO/Orphanet_493342
Vibratory angioedema	Vibratory angioedema	Orphanet	493348	http://www.orpha.net/ORDO/Orphanet_493348
TELO2-related intellectual disability-neurodevelopmental disorder	TELO2-related intellectual disability-neurodevelopmental disorder	Orphanet	488642	http://www.orpha.net/ORDO/Orphanet_488642
DDX41-related hematologic malignancy predisposition syndrome	DDX41-related hematologic malignancy predisposition syndrome	Orphanet	488647	http://www.orpha.net/ORDO/Orphanet_488647
Distal myopathy, Tateyama type	Distal myopathy, Tateyama type	Orphanet	488650	http://www.orpha.net/ORDO/Orphanet_488650
Transketolase deficiency	Transketolase deficiency	Orphanet	488618	http://www.orpha.net/ORDO/Orphanet_488618
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	Orphanet	488627	http://www.orpha.net/ORDO/Orphanet_488627
TBCK-related intellectual disability syndrome	TBCK-related intellectual disability syndrome	Orphanet	488632	http://www.orpha.net/ORDO/Orphanet_488632
Early-onset epilepsy-intellectual disability-brain anomalies syndrome	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	Orphanet	488635	http://www.orpha.net/ORDO/Orphanet_488635
Osteofibrous dysplasia	Osteofibrous dysplasia	Orphanet	488265	http://www.orpha.net/ORDO/Orphanet_488265
Acute macular neuroretinopathy	Acute macular neuroretinopathy	Orphanet	488239	http://www.orpha.net/ORDO/Orphanet_488239
Split-foot malformation-mesoaxial polydactyly syndrome	Split-foot malformation-mesoaxial polydactyly syndrome	Orphanet	488232	http://www.orpha.net/ORDO/Orphanet_488232
Autosomal dominant Charcot-Marie-Tooth disease type 2W	Autosomal dominant Charcot-Marie-Tooth disease type 2W	Orphanet	488333	http://www.orpha.net/ORDO/Orphanet_488333
14q32 duplication syndrome	14q32 duplication syndrome	Orphanet	488280	http://www.orpha.net/ORDO/Orphanet_488280
Congenital amyoplasia	Congenital amyoplasia	Orphanet	488586	http://www.orpha.net/ORDO/Orphanet_488586
SIX2-related frontonasal dysplasia	SIX2-related frontonasal dysplasia	Orphanet	488437	http://www.orpha.net/ORDO/Orphanet_488437
Camptodactyly syndrome, Guadalajara type 3	Camptodactyly syndrome, Guadalajara type 3	Orphanet	488434	http://www.orpha.net/ORDO/Orphanet_488434
Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	Orphanet	488613	http://www.orpha.net/ORDO/Orphanet_488613
Autosomal recessive spastic paraplegia type 76	Autosomal recessive spastic paraplegia type 76	Orphanet	488594	http://www.orpha.net/ORDO/Orphanet_488594
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome	Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome	Orphanet	488197	http://www.orpha.net/ORDO/Orphanet_488197
NON RARE IN EUROPE: Non-small cell lung cancer	NON RARE IN EUROPE: Non-small cell lung cancer	Orphanet	488201	http://www.orpha.net/ORDO/Orphanet_488201
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome	Microcephaly-congenital cataract-psoriasiform dermatitis syndrome	Orphanet	488168	http://www.orpha.net/ORDO/Orphanet_488168
Female infertility due to oocyte meiotic arrest	Female infertility due to oocyte meiotic arrest	Orphanet	488191	http://www.orpha.net/ORDO/Orphanet_488191
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	Orphanet	487796	http://www.orpha.net/ORDO/Orphanet_487796
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation	Orphanet	487814	http://www.orpha.net/ORDO/Orphanet_487814
Pediatric collagenous gastritis	Pediatric collagenous gastritis	Orphanet	487809	http://www.orpha.net/ORDO/Orphanet_487809
Pierpont syndrome	Pierpont syndrome	Orphanet	487825	http://www.orpha.net/ORDO/Orphanet_487825
Rare pediatric rheumatologic disease	Rare pediatric rheumatologic disease	Orphanet	486955	http://www.orpha.net/ORDO/Orphanet_486955
Rat-bite fever	Rat-bite fever	Orphanet	31205	http://www.orpha.net/ORDO/Orphanet_31205
Nocardiosis	Nocardiosis	Orphanet	31204	http://www.orpha.net/ORDO/Orphanet_31204
Hypobetalipoproteinemia	Hypobetalipoproteinemia	Orphanet	31154	http://www.orpha.net/ORDO/Orphanet_31154
Melioidosis	Melioidosis	Orphanet	31202	http://www.orpha.net/ORDO/Orphanet_31202
Tangier disease	Tangier disease	Orphanet	31150	http://www.orpha.net/ORDO/Orphanet_31150
Hypoalphalipoproteinemia	Hypoalphalipoproteinemia	Orphanet	31153	http://www.orpha.net/ORDO/Orphanet_31153
Oral erosive lichen	Oral erosive lichen	Orphanet	31142	http://www.orpha.net/ORDO/Orphanet_31142
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement	Orphanet	31043	http://www.orpha.net/ORDO/Orphanet_31043
Dermatofibrosarcoma protuberans	Dermatofibrosarcoma protuberans	Orphanet	31112	http://www.orpha.net/ORDO/Orphanet_31112
Primary hypomagnesemia with secondary hypocalcemia	Primary hypomagnesemia with secondary hypocalcemia	Orphanet	30924	http://www.orpha.net/ORDO/Orphanet_30924
Hereditary central diabetes insipidus	Hereditary central diabetes insipidus	Orphanet	30925	http://www.orpha.net/ORDO/Orphanet_30925
BVES-related limb-girdle muscular dystrophy	BVES-related limb-girdle muscular dystrophy	Orphanet	476084	http://www.orpha.net/ORDO/Orphanet_476084
Erythrokeratodermia-cardiomyopathy syndrome	Erythrokeratodermia-cardiomyopathy syndrome	Orphanet	476096	http://www.orpha.net/ORDO/Orphanet_476096
Hereditary pediatric Behçet-like disease	Hereditary pediatric Behçet-like disease	Orphanet	476102	http://www.orpha.net/ORDO/Orphanet_476102
Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome	Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome	Orphanet	476093	http://www.orpha.net/ORDO/Orphanet_476093
Genetic lethal multiple congenital anomalies/dysmorphic syndrome	Genetic lethal multiple congenital anomalies/dysmorphic syndrome	Orphanet	471383	http://www.orpha.net/ORDO/Orphanet_471383
Rare congenital anomaly of ventricular septum	Rare congenital anomaly of ventricular septum	Orphanet	474347	http://www.orpha.net/ORDO/Orphanet_474347
Congenital brain dysgenesis due to glutamine synthetase deficiency	Congenital brain dysgenesis due to glutamine synthetase deficiency	Orphanet	71278	http://www.orpha.net/ORDO/Orphanet_71278
CANOMAD syndrome	CANOMAD syndrome	Orphanet	71279	http://www.orpha.net/ORDO/Orphanet_71279
Rare central nervous system and retinal vascular disease	Rare central nervous system and retinal vascular disease	Orphanet	71281	http://www.orpha.net/ORDO/Orphanet_71281
Split hand-split foot-deafness syndrome	Split hand-split foot-deafness syndrome	Orphanet	71271	http://www.orpha.net/ORDO/Orphanet_71271
Sandifer syndrome	Sandifer syndrome	Orphanet	71272	http://www.orpha.net/ORDO/Orphanet_71272
Renal nutcracker syndrome	Renal nutcracker syndrome	Orphanet	71273	http://www.orpha.net/ORDO/Orphanet_71273
Disseminated peritoneal leiomyomatosis	Disseminated peritoneal leiomyomatosis	Orphanet	71274	http://www.orpha.net/ORDO/Orphanet_71274
Rh deficiency syndrome	Rh deficiency syndrome	Orphanet	71275	http://www.orpha.net/ORDO/Orphanet_71275
Silent sinus syndrome	Silent sinus syndrome	Orphanet	71276	http://www.orpha.net/ORDO/Orphanet_71276
Classic glucose transporter type 1 deficiency syndrome	Classic glucose transporter type 1 deficiency syndrome	Orphanet	71277	http://www.orpha.net/ORDO/Orphanet_71277
Rare soft tissue tumor	Rare soft tissue tumor	Orphanet	71209	http://www.orpha.net/ORDO/Orphanet_71209
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	Orphanet	71212	http://www.orpha.net/ORDO/Orphanet_71212
Neuromyelitis optica	Neuromyelitis optica	Orphanet	71211	http://www.orpha.net/ORDO/Orphanet_71211
Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome	Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome	Orphanet	71267	http://www.orpha.net/ORDO/Orphanet_71267
Retinal capillary malformation	Retinal capillary malformation	Orphanet	71213	http://www.orpha.net/ORDO/Orphanet_71213
Rare pulmonary hypertension	Rare pulmonary hypertension	Orphanet	71198	http://www.orpha.net/ORDO/Orphanet_71198
Autoimmune thrombocytopenia	Autoimmune thrombocytopenia	Orphanet	71203	http://www.orpha.net/ORDO/Orphanet_71203
Rare hemorrhagic disorder due to a constitutional platelet anomaly	Rare hemorrhagic disorder due to a constitutional platelet anomaly	Orphanet	71202	http://www.orpha.net/ORDO/Orphanet_71202
Idiopathic gastroparesis	Idiopathic gastroparesis	Orphanet	558411	http://www.orpha.net/ORDO/Orphanet_558411
Chronic thromboembolic pulmonary hypertension	Chronic thromboembolic pulmonary hypertension	Orphanet	70591	http://www.orpha.net/ORDO/Orphanet_70591
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency	Orphanet	70592	http://www.orpha.net/ORDO/Orphanet_70592
Bronchopulmonary dysplasia	Bronchopulmonary dysplasia	Orphanet	70589	http://www.orpha.net/ORDO/Orphanet_70589
Infantile apnea	Infantile apnea	Orphanet	70590	http://www.orpha.net/ORDO/Orphanet_70590
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	Orphanet	70595	http://www.orpha.net/ORDO/Orphanet_70595
Congenital Epstein-Barr virus infection	Congenital Epstein-Barr virus infection	Orphanet	70596	http://www.orpha.net/ORDO/Orphanet_70596
Immunodeficiency due to selective anti-polysaccharide antibody deficiency	Immunodeficiency due to selective anti-polysaccharide antibody deficiency	Orphanet	70593	http://www.orpha.net/ORDO/Orphanet_70593
Dopa-responsive dystonia due to sepiapterin reductase deficiency	Dopa-responsive dystonia due to sepiapterin reductase deficiency	Orphanet	70594	http://www.orpha.net/ORDO/Orphanet_70594
Adult acute respiratory distress syndrome	Adult acute respiratory distress syndrome	Orphanet	70578	http://www.orpha.net/ORDO/Orphanet_70578
Small cell lung cancer	Small cell lung cancer	Orphanet	70573	http://www.orpha.net/ORDO/Orphanet_70573
Post-transplant lymphoproliferative disease	Post-transplant lymphoproliferative disease	Orphanet	70568	http://www.orpha.net/ORDO/Orphanet_70568
Meconium aspiration syndrome	Meconium aspiration syndrome	Orphanet	70588	http://www.orpha.net/ORDO/Orphanet_70588
Infant acute respiratory distress syndrome	Infant acute respiratory distress syndrome	Orphanet	70587	http://www.orpha.net/ORDO/Orphanet_70587
Leigh syndrome with cardiomyopathy	Leigh syndrome with cardiomyopathy	Orphanet	70474	http://www.orpha.net/ORDO/Orphanet_70474
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Orphanet	70472	http://www.orpha.net/ORDO/Orphanet_70472
Cholangiocarcinoma	Cholangiocarcinoma	Orphanet	70567	http://www.orpha.net/ORDO/Orphanet_70567
Rare disorder with Hirschsprung disease as a major feature	Rare disorder with Hirschsprung disease as a major feature	Orphanet	557866	http://www.orpha.net/ORDO/Orphanet_557866
Carcinoma of esophagus	Carcinoma of esophagus	Orphanet	70482	http://www.orpha.net/ORDO/Orphanet_70482
Vernal keratoconjunctivitis	Vernal keratoconjunctivitis	Orphanet	70476	http://www.orpha.net/ORDO/Orphanet_70476
Radiation proctitis	Radiation proctitis	Orphanet	70475	http://www.orpha.net/ORDO/Orphanet_70475
Circumscribed palmoplantar hypokeratosis	Circumscribed palmoplantar hypokeratosis	Orphanet	69744	http://www.orpha.net/ORDO/Orphanet_69744
Warty dyskeratoma	Warty dyskeratoma	Orphanet	69745	http://www.orpha.net/ORDO/Orphanet_69745
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	Orphanet	69735	http://www.orpha.net/ORDO/Orphanet_69735
Bilateral acute depigmentation of the iris	Bilateral acute depigmentation of the iris	Orphanet	69736	http://www.orpha.net/ORDO/Orphanet_69736
Bosley-Salih-Alorainy syndrome	Bosley-Salih-Alorainy syndrome	Orphanet	69737	http://www.orpha.net/ORDO/Orphanet_69737
Athabaskan brainstem dysgenesis syndrome	Athabaskan brainstem dysgenesis syndrome	Orphanet	69739	http://www.orpha.net/ORDO/Orphanet_69739
Low phospholipid-associated cholelithiasis	Low phospholipid-associated cholelithiasis	Orphanet	69663	http://www.orpha.net/ORDO/Orphanet_69663
Intrahepatic cholestasis of pregnancy	Intrahepatic cholestasis of pregnancy	Orphanet	69665	http://www.orpha.net/ORDO/Orphanet_69665
Tyrosinemia type 3	Tyrosinemia type 3	Orphanet	69723	http://www.orpha.net/ORDO/Orphanet_69723
NON RARE IN EUROPE: Immunoglobulin A deficiency	NON RARE IN EUROPE: Immunoglobulin A deficiency	Orphanet	69127	http://www.orpha.net/ORDO/Orphanet_69127
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	Orphanet	69126	http://www.orpha.net/ORDO/Orphanet_69126
Naegeli-Franceschetti-Jadassohn syndrome	Naegeli-Franceschetti-Jadassohn syndrome	Orphanet	69087	http://www.orpha.net/ORDO/Orphanet_69087
Anonychia with flexural pigmentation	Anonychia with flexural pigmentation	Orphanet	69125	http://www.orpha.net/ORDO/Orphanet_69125
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome	Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome	Orphanet	69088	http://www.orpha.net/ORDO/Orphanet_69088
Ectodermal dysplasia with natal teeth, Turnpenny type	Ectodermal dysplasia with natal teeth, Turnpenny type	Orphanet	69083	http://www.orpha.net/ORDO/Orphanet_69083
Odonto-tricho-ungual-digito-palmar syndrome	Odonto-tricho-ungual-digito-palmar syndrome	Orphanet	69082	http://www.orpha.net/ORDO/Orphanet_69082
Limb-mammary syndrome	Limb-mammary syndrome	Orphanet	69085	http://www.orpha.net/ORDO/Orphanet_69085
Pure hair and nail ectodermal dysplasia	Pure hair and nail ectodermal dysplasia	Orphanet	69084	http://www.orpha.net/ORDO/Orphanet_69084
Rhabdoid tumor	Rhabdoid tumor	Orphanet	69077	http://www.orpha.net/ORDO/Orphanet_69077
Familial renal glucosuria	Familial renal glucosuria	Orphanet	69076	http://www.orpha.net/ORDO/Orphanet_69076
Liposarcoma	Liposarcoma	Orphanet	69078	http://www.orpha.net/ORDO/Orphanet_69078
Idiopathic steroid-sensitive nephrotic syndrome	Idiopathic steroid-sensitive nephrotic syndrome	Orphanet	69061	http://www.orpha.net/ORDO/Orphanet_69061
Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization	Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization	Orphanet	69063	http://www.orpha.net/ORDO/Orphanet_69063
3-methylglutaconic aciduria type 4	3-methylglutaconic aciduria type 4	Orphanet	67048	http://www.orpha.net/ORDO/Orphanet_67048
Dysostosis with brachydactyly	Dysostosis with brachydactyly	Orphanet	69028	http://www.orpha.net/ORDO/Orphanet_69028
3-methylglutaconic aciduria type 1	3-methylglutaconic aciduria type 1	Orphanet	67046	http://www.orpha.net/ORDO/Orphanet_67046
3-methylglutaconic aciduria type 3	3-methylglutaconic aciduria type 3	Orphanet	67047	http://www.orpha.net/ORDO/Orphanet_67047
Thrombocytopenia with congenital dyserythropoietic anemia	Thrombocytopenia with congenital dyserythropoietic anemia	Orphanet	67044	http://www.orpha.net/ORDO/Orphanet_67044
X-linked intellectual disability with isolated growth hormone deficiency	X-linked intellectual disability with isolated growth hormone deficiency	Orphanet	67045	http://www.orpha.net/ORDO/Orphanet_67045
Late-onset retinal degeneration	Late-onset retinal degeneration	Orphanet	67042	http://www.orpha.net/ORDO/Orphanet_67042
Amoebic keratitis	Amoebic keratitis	Orphanet	67043	http://www.orpha.net/ORDO/Orphanet_67043
Segmental odontomaxillary dysplasia	Segmental odontomaxillary dysplasia	Orphanet	67039	http://www.orpha.net/ORDO/Orphanet_67039
Hyaluronidase deficiency	Hyaluronidase deficiency	Orphanet	67041	http://www.orpha.net/ORDO/Orphanet_67041
B-cell chronic lymphocytic leukemia	B-cell chronic lymphocytic leukemia	Orphanet	67038	http://www.orpha.net/ORDO/Orphanet_67038
Extracutaneous mastocytoma	Extracutaneous mastocytoma	Orphanet	66662	http://www.orpha.net/ORDO/Orphanet_66662
Autosomal dominant optic atrophy and cataract	Autosomal dominant optic atrophy and cataract	Orphanet	67036	http://www.orpha.net/ORDO/Orphanet_67036
Mast cell sarcoma	Mast cell sarcoma	Orphanet	66661	http://www.orpha.net/ORDO/Orphanet_66661
Cutaneous mastocytosis	Cutaneous mastocytosis	Orphanet	66646	http://www.orpha.net/ORDO/Orphanet_66646
Diaphanospondylodysostosis	Diaphanospondylodysostosis	Orphanet	66637	http://www.orpha.net/ORDO/Orphanet_66637
Dilated cardiomyopathy with ataxia	Dilated cardiomyopathy with ataxia	Orphanet	66634	http://www.orpha.net/ORDO/Orphanet_66634
Sensorineural hearing loss-early graying-essential tremor syndrome	Sensorineural hearing loss-early graying-essential tremor syndrome	Orphanet	66633	http://www.orpha.net/ORDO/Orphanet_66633
CEDNIK syndrome	CEDNIK syndrome	Orphanet	66631	http://www.orpha.net/ORDO/Orphanet_66631
Congenital pseudoarthrosis of the clavicle	Congenital pseudoarthrosis of the clavicle	Orphanet	66630	http://www.orpha.net/ORDO/Orphanet_66630
Goldberg-Shprintzen megacolon syndrome	Goldberg-Shprintzen megacolon syndrome	Orphanet	66629	http://www.orpha.net/ORDO/Orphanet_66629
Obesity due to congenital leptin deficiency	Obesity due to congenital leptin deficiency	Orphanet	66628	http://www.orpha.net/ORDO/Orphanet_66628
Pigmented villonodular synovitis	Pigmented villonodular synovitis	Orphanet	66627	http://www.orpha.net/ORDO/Orphanet_66627
Cerebrooculonasal syndrome	Cerebrooculonasal syndrome	Orphanet	66625	http://www.orpha.net/ORDO/Orphanet_66625
PANDAS	PANDAS	Orphanet	66624	http://www.orpha.net/ORDO/Orphanet_66624
Tako-Tsubo cardiomyopathy	Tako-Tsubo cardiomyopathy	Orphanet	66529	http://www.orpha.net/ORDO/Orphanet_66529
Short fifth metacarpals-insulin resistance syndrome	Short fifth metacarpals-insulin resistance syndrome	Orphanet	66518	http://www.orpha.net/ORDO/Orphanet_66518
Goodman syndrome	Goodman syndrome	Orphanet	65798	http://www.orpha.net/ORDO/Orphanet_65798
Timothy syndrome	Timothy syndrome	Orphanet	65283	http://www.orpha.net/ORDO/Orphanet_65283
Carvajal syndrome	Carvajal syndrome	Orphanet	65282	http://www.orpha.net/ORDO/Orphanet_65282
Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome	Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome	Orphanet	562639	http://www.orpha.net/ORDO/Orphanet_562639
Lhermitte-Duclos disease	Lhermitte-Duclos disease	Orphanet	65285	http://www.orpha.net/ORDO/Orphanet_65285
Biotin-thiamine-responsive basal ganglia disease	Biotin-thiamine-responsive basal ganglia disease	Orphanet	65284	http://www.orpha.net/ORDO/Orphanet_65284
Beta-ureidopropionase deficiency	Beta-ureidopropionase deficiency	Orphanet	65287	http://www.orpha.net/ORDO/Orphanet_65287
3q29 microdeletion syndrome	3q29 microdeletion syndrome	Orphanet	65286	http://www.orpha.net/ORDO/Orphanet_65286
Vaginal atresia	Vaginal atresia	Orphanet	65681	http://www.orpha.net/ORDO/Orphanet_65681
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	Orphanet	65288	http://www.orpha.net/ORDO/Orphanet_65288
Isolated focal cortical dysplasia	Isolated focal cortical dysplasia	Orphanet	65683	http://www.orpha.net/ORDO/Orphanet_65683
Benign recurrent intrahepatic cholestasis	Benign recurrent intrahepatic cholestasis	Orphanet	65682	http://www.orpha.net/ORDO/Orphanet_65682
Arthrogryposis-severe scoliosis syndrome	Arthrogryposis-severe scoliosis syndrome	Orphanet	65720	http://www.orpha.net/ORDO/Orphanet_65720
Monomelic amyotrophy	Monomelic amyotrophy	Orphanet	65684	http://www.orpha.net/ORDO/Orphanet_65684
Multiple self-healing squamous epithelioma	Multiple self-healing squamous epithelioma	Orphanet	65748	http://www.orpha.net/ORDO/Orphanet_65748
Autosomal dominant multiple pterygium syndrome	Autosomal dominant multiple pterygium syndrome	Orphanet	65743	http://www.orpha.net/ORDO/Orphanet_65743
Carpenter syndrome	Carpenter syndrome	Orphanet	65759	http://www.orpha.net/ORDO/Orphanet_65759
Charcot-Marie-Tooth disease type 1	Charcot-Marie-Tooth disease type 1	Orphanet	65753	http://www.orpha.net/ORDO/Orphanet_65753
IgG4-related thyroid disease	IgG4-related thyroid disease	Orphanet	64744	http://www.orpha.net/ORDO/Orphanet_64744
Pruritic urticarial papules and plaques of pregnancy	Pruritic urticarial papules and plaques of pregnancy	Orphanet	64745	http://www.orpha.net/ORDO/Orphanet_64745
Autosomal dominant Charcot-Marie-Tooth disease type 2	Autosomal dominant Charcot-Marie-Tooth disease type 2	Orphanet	64746	http://www.orpha.net/ORDO/Orphanet_64746
X-linked Charcot-Marie-Tooth disease	X-linked Charcot-Marie-Tooth disease	Orphanet	64747	http://www.orpha.net/ORDO/Orphanet_64747
Dejerine-Sottas syndrome	Dejerine-Sottas syndrome	Orphanet	64748	http://www.orpha.net/ORDO/Orphanet_64748
Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth disease type 4	Orphanet	64749	http://www.orpha.net/ORDO/Orphanet_64749
Hereditary motor and sensory neuropathy type 5	Hereditary motor and sensory neuropathy type 5	Orphanet	64751	http://www.orpha.net/ORDO/Orphanet_64751
Heme oxygenase-1 deficiency	Heme oxygenase-1 deficiency	Orphanet	562509	http://www.orpha.net/ORDO/Orphanet_562509
Hereditary sensory and autonomic neuropathy type 5	Hereditary sensory and autonomic neuropathy type 5	Orphanet	64752	http://www.orpha.net/ORDO/Orphanet_64752
Spinocerebellar ataxia with axonal neuropathy type 2	Spinocerebellar ataxia with axonal neuropathy type 2	Orphanet	64753	http://www.orpha.net/ORDO/Orphanet_64753
Nevus comedonicus syndrome	Nevus comedonicus syndrome	Orphanet	64754	http://www.orpha.net/ORDO/Orphanet_64754
Congenital limbs-face contractures-hypotonia-developmental delay syndrome	Congenital limbs-face contractures-hypotonia-developmental delay syndrome	Orphanet	562528	http://www.orpha.net/ORDO/Orphanet_562528
Becker nevus syndrome	Becker nevus syndrome	Orphanet	64755	http://www.orpha.net/ORDO/Orphanet_64755
Anterior maxillary protrusion-strabismus-intellectual disability syndrome	Anterior maxillary protrusion-strabismus-intellectual disability syndrome	Orphanet	562559	http://www.orpha.net/ORDO/Orphanet_562559
Autosomal recessive extra-oral halitosis	Autosomal recessive extra-oral halitosis	Orphanet	562538	http://www.orpha.net/ORDO/Orphanet_562538
Perineural cyst	Perineural cyst	Orphanet	65250	http://www.orpha.net/ORDO/Orphanet_65250
TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome	TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome	Orphanet	562569	http://www.orpha.net/ORDO/Orphanet_562569
Tolosa-Hunt syndrome	Tolosa-Hunt syndrome	Orphanet	64686	http://www.orpha.net/ORDO/Orphanet_64686
Benign idiopathic neonatal seizures	Benign idiopathic neonatal seizures	Orphanet	64545	http://www.orpha.net/ORDO/Orphanet_64545
Acrofacial dysostosis, Kennedy-Teebi type	Acrofacial dysostosis, Kennedy-Teebi type	Orphanet	64542	http://www.orpha.net/ORDO/Orphanet_64542
Childhood absence epilepsy	Childhood absence epilepsy	Orphanet	64280	http://www.orpha.net/ORDO/Orphanet_64280
Granulomatous mastitis	Granulomatous mastitis	Orphanet	64722	http://www.orpha.net/ORDO/Orphanet_64722
Leiomyosarcoma	Leiomyosarcoma	Orphanet	64720	http://www.orpha.net/ORDO/Orphanet_64720
Trench fever	Trench fever	Orphanet	64694	http://www.orpha.net/ORDO/Orphanet_64694
Oroya fever	Oroya fever	Orphanet	64692	http://www.orpha.net/ORDO/Orphanet_64692
Ovarian hyperstimulation syndrome	Ovarian hyperstimulation syndrome	Orphanet	64739	http://www.orpha.net/ORDO/Orphanet_64739
NON RARE IN EUROPE: Non rare thrombophilia	NON RARE IN EUROPE: Non rare thrombophilia	Orphanet	64738	http://www.orpha.net/ORDO/Orphanet_64738
Iridocorneal endothelial syndrome	Iridocorneal endothelial syndrome	Orphanet	64734	http://www.orpha.net/ORDO/Orphanet_64734
Hepatoportal sclerosis	Hepatoportal sclerosis	Orphanet	64743	http://www.orpha.net/ORDO/Orphanet_64743
Pleuropulmonary blastoma	Pleuropulmonary blastoma	Orphanet	64742	http://www.orpha.net/ORDO/Orphanet_64742
Pulmonary blastoma	Pulmonary blastoma	Orphanet	64741	http://www.orpha.net/ORDO/Orphanet_64741
FOXG1 syndrome	FOXG1 syndrome	Orphanet	561854	http://www.orpha.net/ORDO/Orphanet_561854
NON RARE IN EUROPE: Recurrent acute pancreatitis	NON RARE IN EUROPE: Recurrent acute pancreatitis	Orphanet	64740	http://www.orpha.net/ORDO/Orphanet_64740
HERNS syndrome	HERNS syndrome	Orphanet	63261	http://www.orpha.net/ORDO/Orphanet_63261
Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis	Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis	Orphanet	63269	http://www.orpha.net/ORDO/Orphanet_63269
Iniencephaly	Iniencephaly	Orphanet	63259	http://www.orpha.net/ORDO/Orphanet_63259
Craniorachischisis	Craniorachischisis	Orphanet	63260	http://www.orpha.net/ORDO/Orphanet_63260
Isolated oxycephaly	Isolated oxycephaly	Orphanet	63440	http://www.orpha.net/ORDO/Orphanet_63440
Angel-shaped phalango-epiphyseal dysplasia	Angel-shaped phalango-epiphyseal dysplasia	Orphanet	63442	http://www.orpha.net/ORDO/Orphanet_63442
Distal myopathy with posterior leg and anterior hand involvement	Distal myopathy with posterior leg and anterior hand involvement	Orphanet	63273	http://www.orpha.net/ORDO/Orphanet_63273
Pemphigoid gestationis	Pemphigoid gestationis	Orphanet	63275	http://www.orpha.net/ORDO/Orphanet_63275
Pattern dystrophy	Pattern dystrophy	Orphanet	63454	http://www.orpha.net/ORDO/Orphanet_63454
Paraneoplastic pemphigus	Paraneoplastic pemphigus	Orphanet	63455	http://www.orpha.net/ORDO/Orphanet_63455
Rare epithelial tumor of stomach	Rare epithelial tumor of stomach	Orphanet	63443	http://www.orpha.net/ORDO/Orphanet_63443
Acrocapitofemoral dysplasia	Acrocapitofemoral dysplasia	Orphanet	63446	http://www.orpha.net/ORDO/Orphanet_63446
IgG4-related mediastinitis	IgG4-related mediastinitis	Orphanet	63999	http://www.orpha.net/ORDO/Orphanet_63999
Schisis association	Schisis association	Orphanet	63862	http://www.orpha.net/ORDO/Orphanet_63862
Megalencephaly-capillary malformation-polymicrogyria syndrome	Megalencephaly-capillary malformation-polymicrogyria syndrome	Orphanet	60040	http://www.orpha.net/ORDO/Orphanet_60040
Pudendal neuralgia	Pudendal neuralgia	Orphanet	60039	http://www.orpha.net/ORDO/Orphanet_60039
Congenital heart block	Congenital heart block	Orphanet	60041	http://www.orpha.net/ORDO/Orphanet_60041
Recurrent respiratory papillomatosis	Recurrent respiratory papillomatosis	Orphanet	60032	http://www.orpha.net/ORDO/Orphanet_60032
Idiopathic bronchiectasis	Idiopathic bronchiectasis	Orphanet	60033	http://www.orpha.net/ORDO/Orphanet_60033
Neonatal ichthyosis-sclerosing cholangitis syndrome	Neonatal ichthyosis-sclerosing cholangitis syndrome	Orphanet	59303	http://www.orpha.net/ORDO/Orphanet_59303
Isolated congenital hypoglossia	Isolated congenital hypoglossia	Orphanet	563954	http://www.orpha.net/ORDO/Orphanet_563954
Gestational trophoblastic neoplasm	Gestational trophoblastic neoplasm	Orphanet	59305	http://www.orpha.net/ORDO/Orphanet_59305
Isolated congenital aglossia	Isolated congenital aglossia	Orphanet	563951	http://www.orpha.net/ORDO/Orphanet_563951
McLeod neuroacanthocytosis syndrome	McLeod neuroacanthocytosis syndrome	Orphanet	59306	http://www.orpha.net/ORDO/Orphanet_59306
Schilder disease	Schilder disease	Orphanet	59298	http://www.orpha.net/ORDO/Orphanet_59298
Enlarged parietal foramina	Enlarged parietal foramina	Orphanet	60015	http://www.orpha.net/ORDO/Orphanet_60015
Osteochondrosis of the metatarsal bone	Osteochondrosis of the metatarsal bone	Orphanet	564003	http://www.orpha.net/ORDO/Orphanet_564003
Pulmonary alveolar microlithiasis	Pulmonary alveolar microlithiasis	Orphanet	60025	http://www.orpha.net/ORDO/Orphanet_60025
Osteochondrosis of the tarsal bone	Osteochondrosis of the tarsal bone	Orphanet	563991	http://www.orpha.net/ORDO/Orphanet_563991
Pulmonary nodular lymphoid hyperplasia	Pulmonary nodular lymphoid hyperplasia	Orphanet	60026	http://www.orpha.net/ORDO/Orphanet_60026
Primary hypomagnesemia with refractory seizures and intellectual disability	Primary hypomagnesemia with refractory seizures and intellectual disability	Orphanet	564178	http://www.orpha.net/ORDO/Orphanet_564178
Genetic nephrotic syndrome	Genetic nephrotic syndrome	Orphanet	564127	http://www.orpha.net/ORDO/Orphanet_564127
Loeys-Dietz syndrome	Loeys-Dietz syndrome	Orphanet	60030	http://www.orpha.net/ORDO/Orphanet_60030
Rhombencephalosynapsis	Rhombencephalosynapsis	Orphanet	59315	http://www.orpha.net/ORDO/Orphanet_59315
Argyria	Argyria	Orphanet	60014	http://www.orpha.net/ORDO/Orphanet_60014
Cirrhotic cardiomyopathy	Cirrhotic cardiomyopathy	Orphanet	57777	http://www.orpha.net/ORDO/Orphanet_57777
Medial condensing osteitis of the clavicle	Medial condensing osteitis of the clavicle	Orphanet	57196	http://www.orpha.net/ORDO/Orphanet_57196
Furuncular myiasis due to Cordylobia rodhaini	Furuncular myiasis due to Cordylobia rodhaini	Orphanet	563690	http://www.orpha.net/ORDO/Orphanet_563690
Rare hepatic disease	Rare hepatic disease	Orphanet	57146	http://www.orpha.net/ORDO/Orphanet_57146
Syndromic congenital sodium diarrhea	Syndromic congenital sodium diarrhea	Orphanet	563708	http://www.orpha.net/ORDO/Orphanet_563708
SUNCT syndrome	SUNCT syndrome	Orphanet	57145	http://www.orpha.net/ORDO/Orphanet_57145
Furuncular myiasis due to Dermatobia hominis	Furuncular myiasis due to Dermatobia hominis	Orphanet	563684	http://www.orpha.net/ORDO/Orphanet_563684
Furuncular myiasis due to Cordylobia anthropophaga	Furuncular myiasis due to Cordylobia anthropophaga	Orphanet	563687	http://www.orpha.net/ORDO/Orphanet_563687
Human prion disease	Human prion disease	Orphanet	56970	http://www.orpha.net/ORDO/Orphanet_56970
Progressive bulbar paralysis of childhood	Progressive bulbar paralysis of childhood	Orphanet	56965	http://www.orpha.net/ORDO/Orphanet_56965
Mucinous cystadenoma of childhood	Mucinous cystadenoma of childhood	Orphanet	563671	http://www.orpha.net/ORDO/Orphanet_563671
Cold agglutinin disease	Cold agglutinin disease	Orphanet	56425	http://www.orpha.net/ORDO/Orphanet_56425
Seromucinous cystadenoma of childhood	Seromucinous cystadenoma of childhood	Orphanet	563676	http://www.orpha.net/ORDO/Orphanet_563676
Sorsby pseudoinflammatory fundus dystrophy	Sorsby pseudoinflammatory fundus dystrophy	Orphanet	59181	http://www.orpha.net/ORDO/Orphanet_59181
Laing early-onset distal myopathy	Laing early-onset distal myopathy	Orphanet	59135	http://www.orpha.net/ORDO/Orphanet_59135
NON RARE IN EUROPE: Pericarditis	NON RARE IN EUROPE: Pericarditis	Orphanet	58208	http://www.orpha.net/ORDO/Orphanet_58208
Osteoblastoma	Osteoblastoma	Orphanet	58040	http://www.orpha.net/ORDO/Orphanet_58040
Classic hairy cell leukemia	Classic hairy cell leukemia	Orphanet	58017	http://www.orpha.net/ORDO/Orphanet_58017
Mazabraud syndrome	Mazabraud syndrome	Orphanet	57782	http://www.orpha.net/ORDO/Orphanet_57782
TNP03-related  limb-girdle muscular dystrophy D2	TNP03-related  limb-girdle muscular dystrophy D2	Orphanet	55595	http://www.orpha.net/ORDO/Orphanet_55595
HNRNPDL-related  limb-girdle muscular dystrophy D3	HNRNPDL-related  limb-girdle muscular dystrophy D3	Orphanet	55596	http://www.orpha.net/ORDO/Orphanet_55596
Craniopharyngioma	Craniopharyngioma	Orphanet	54595	http://www.orpha.net/ORDO/Orphanet_54595
Sarcocystosis	Sarcocystosis	Orphanet	54368	http://www.orpha.net/ORDO/Orphanet_54368
Primary membranoproliferative glomerulonephritis	Primary membranoproliferative glomerulonephritis	Orphanet	54370	http://www.orpha.net/ORDO/Orphanet_54370
Hepatocellular adenoma	Hepatocellular adenoma	Orphanet	54272	http://www.orpha.net/ORDO/Orphanet_54272
Atelosteogenesis type II	Atelosteogenesis type II	Orphanet	56304	http://www.orpha.net/ORDO/Orphanet_56304
Serous cystadenoma of childhood	Serous cystadenoma of childhood	Orphanet	563666	http://www.orpha.net/ORDO/Orphanet_563666
Atelosteogenesis type III	Atelosteogenesis type III	Orphanet	56305	http://www.orpha.net/ORDO/Orphanet_56305
Isolated exencephaly	Isolated exencephaly	Orphanet	563612	http://www.orpha.net/ORDO/Orphanet_563612
Isolated anencephaly	Isolated anencephaly	Orphanet	563609	http://www.orpha.net/ORDO/Orphanet_563609
Carcinoma of gallbladder and extrahepatic biliary tract	Carcinoma of gallbladder and extrahepatic biliary tract	Orphanet	56044	http://www.orpha.net/ORDO/Orphanet_56044
Seronegative autoimmune hepatitis	Seronegative autoimmune hepatitis	Orphanet	563589	http://www.orpha.net/ORDO/Orphanet_563589
Chondrosarcoma	Chondrosarcoma	Orphanet	55880	http://www.orpha.net/ORDO/Orphanet_55880
Autoimmune hepatitis type 2	Autoimmune hepatitis type 2	Orphanet	563581	http://www.orpha.net/ORDO/Orphanet_563581
Adamantinoma	Adamantinoma	Orphanet	55881	http://www.orpha.net/ORDO/Orphanet_55881
Autoimmune hepatitis type 1	Autoimmune hepatitis type 1	Orphanet	563576	http://www.orpha.net/ORDO/Orphanet_563576
Hypotrichosis simplex	Hypotrichosis simplex	Orphanet	55654	http://www.orpha.net/ORDO/Orphanet_55654
Pneumococcal meningitis	Pneumococcal meningitis	Orphanet	55655	http://www.orpha.net/ORDO/Orphanet_55655
Other metabolic disease with skin involvement	Other metabolic disease with skin involvement	Orphanet	79217	http://www.orpha.net/ORDO/Orphanet_79217
Oligosaccharidosis	Oligosaccharidosis	Orphanet	79215	http://www.orpha.net/ORDO/Orphanet_79215
Disorder of biogenic amine metabolism and transport	Disorder of biogenic amine metabolism and transport	Orphanet	79214	http://www.orpha.net/ORDO/Orphanet_79214
Metabolic disease involving other neurotransmitter deficiency	Metabolic disease involving other neurotransmitter deficiency	Orphanet	79219	http://www.orpha.net/ORDO/Orphanet_79219
Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23	Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23	Orphanet	565837	http://www.orpha.net/ORDO/Orphanet_565837
Craniosynostosis-microretrognathia-severe intellectual disability syndrome	Craniosynostosis-microretrognathia-severe intellectual disability syndrome	Orphanet	565858	http://www.orpha.net/ORDO/Orphanet_565858
Disorder of lysosomal amino acid transport	Disorder of lysosomal amino acid transport	Orphanet	79207	http://www.orpha.net/ORDO/Orphanet_79207
Infantile inflammatory bowel disease with neurological involvement	Infantile inflammatory bowel disease with neurological involvement	Orphanet	565788	http://www.orpha.net/ORDO/Orphanet_565788
Mucopolysaccharidosis	Mucopolysaccharidosis	Orphanet	79213	http://www.orpha.net/ORDO/Orphanet_79213
Mucolipidosis	Mucolipidosis	Orphanet	79212	http://www.orpha.net/ORDO/Orphanet_79212
POMGNT2-related limb-girdle muscular dystrophy R24	POMGNT2-related limb-girdle muscular dystrophy R24	Orphanet	565899	http://www.orpha.net/ORDO/Orphanet_565899
Calpain-3-related limb-girdle muscular dystrophy D4	Calpain-3-related limb-girdle muscular dystrophy D4	Orphanet	565909	http://www.orpha.net/ORDO/Orphanet_565909
Hypoxanthine guanine phosphoribosyltransferase partial deficiency	Hypoxanthine guanine phosphoribosyltransferase partial deficiency	Orphanet	79233	http://www.orpha.net/ORDO/Orphanet_79233
Hemochromatosis type 2	Hemochromatosis type 2	Orphanet	79230	http://www.orpha.net/ORDO/Orphanet_79230
Galactokinase deficiency	Galactokinase deficiency	Orphanet	79237	http://www.orpha.net/ORDO/Orphanet_79237
CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome	CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome	Orphanet	566067	http://www.orpha.net/ORDO/Orphanet_566067
Crigler-Najjar syndrome type 1	Crigler-Najjar syndrome type 1	Orphanet	79234	http://www.orpha.net/ORDO/Orphanet_79234
Crigler-Najjar syndrome type 2	Crigler-Najjar syndrome type 2	Orphanet	79235	http://www.orpha.net/ORDO/Orphanet_79235
Disorder of purine or pyrimidine metabolism	Disorder of purine or pyrimidine metabolism	Orphanet	79224	http://www.orpha.net/ORDO/Orphanet_79224
Sphingolipidosis	Sphingolipidosis	Orphanet	79225	http://www.orpha.net/ORDO/Orphanet_79225
Sterol metabolism disorder	Sterol metabolism disorder	Orphanet	79226	http://www.orpha.net/ORDO/Orphanet_79226
Disorder of ketolysis	Disorder of ketolysis	Orphanet	79183	http://www.orpha.net/ORDO/Orphanet_79183
Disorder of ornithine or proline metabolism	Disorder of ornithine or proline metabolism	Orphanet	79185	http://www.orpha.net/ORDO/Orphanet_79185
Disorder of peptide metabolism	Disorder of peptide metabolism	Orphanet	79187	http://www.orpha.net/ORDO/Orphanet_79187
Disorder of pentose phosphate metabolism	Disorder of pentose phosphate metabolism	Orphanet	79186	http://www.orpha.net/ORDO/Orphanet_79186
Peroxisome biogenesis disorder	Peroxisome biogenesis disorder	Orphanet	79189	http://www.orpha.net/ORDO/Orphanet_79189
Peroxisomal beta-oxidation disorder	Peroxisomal beta-oxidation disorder	Orphanet	79188	http://www.orpha.net/ORDO/Orphanet_79188
Disorder of gamma-aminobutyric acid metabolism	Disorder of gamma-aminobutyric acid metabolism	Orphanet	79175	http://www.orpha.net/ORDO/Orphanet_79175
Disorder of fatty acid oxidation and ketone body metabolism	Disorder of fatty acid oxidation and ketone body metabolism	Orphanet	79174	http://www.orpha.net/ORDO/Orphanet_79174
Gluconeogenesis disorder	Gluconeogenesis disorder	Orphanet	79177	http://www.orpha.net/ORDO/Orphanet_79177
Disorder of glycerol metabolism	Disorder of glycerol metabolism	Orphanet	79179	http://www.orpha.net/ORDO/Orphanet_79179
Glucose transport disorder	Glucose transport disorder	Orphanet	79178	http://www.orpha.net/ORDO/Orphanet_79178
Disorder of histidine metabolism	Disorder of histidine metabolism	Orphanet	79181	http://www.orpha.net/ORDO/Orphanet_79181
Disorder of energy metabolism	Disorder of energy metabolism	Orphanet	79200	http://www.orpha.net/ORDO/Orphanet_79200
Combined oxidative phosphorylation defect type 39	Combined oxidative phosphorylation defect type 39	Orphanet	565624	http://www.orpha.net/ORDO/Orphanet_565624
Triglyceride deposit cardiomyovasculopathy	Triglyceride deposit cardiomyovasculopathy	Orphanet	565612	http://www.orpha.net/ORDO/Orphanet_565612
Glycogen storage disease	Glycogen storage disease	Orphanet	79201	http://www.orpha.net/ORDO/Orphanet_79201
Rare disorder potentially indicated for transplant or complication after transplantation	Rare disorder potentially indicated for transplant or complication after transplantation	Orphanet	565779	http://www.orpha.net/ORDO/Orphanet_565779
Primary desmosis coli	Primary desmosis coli	Orphanet	565641	http://www.orpha.net/ORDO/Orphanet_565641
Lipid storage disease	Lipid storage disease	Orphanet	79204	http://www.orpha.net/ORDO/Orphanet_79204
Methotrexate toxicity	Methotrexate toxicity	Orphanet	565782	http://www.orpha.net/ORDO/Orphanet_565782
Disorder of phenylalanin or tyrosine metabolism	Disorder of phenylalanin or tyrosine metabolism	Orphanet	79190	http://www.orpha.net/ORDO/Orphanet_79190
Disorder of purine metabolism	Disorder of purine metabolism	Orphanet	79191	http://www.orpha.net/ORDO/Orphanet_79191
Disorder of pyridoxine metabolism	Disorder of pyridoxine metabolism	Orphanet	79192	http://www.orpha.net/ORDO/Orphanet_79192
Disorder of pyrimidine metabolism	Disorder of pyrimidine metabolism	Orphanet	79193	http://www.orpha.net/ORDO/Orphanet_79193
Disorder of serine or glycine metabolism	Disorder of serine or glycine metabolism	Orphanet	79194	http://www.orpha.net/ORDO/Orphanet_79194
Sterol biosynthesis disorder	Sterol biosynthesis disorder	Orphanet	79195	http://www.orpha.net/ORDO/Orphanet_79195
Disorder of the gamma-glutamyl cycle	Disorder of the gamma-glutamyl cycle	Orphanet	79196	http://www.orpha.net/ORDO/Orphanet_79196
Disorder of branched-chain amino acid metabolism	Disorder of branched-chain amino acid metabolism	Orphanet	79197	http://www.orpha.net/ORDO/Orphanet_79197
2-methylbutyryl-CoA dehydrogenase deficiency	2-methylbutyryl-CoA dehydrogenase deficiency	Orphanet	79157	http://www.orpha.net/ORDO/Orphanet_79157
Seizures-intellectual disability due to hydroxylysinuria syndrome	Seizures-intellectual disability due to hydroxylysinuria syndrome	Orphanet	79156	http://www.orpha.net/ORDO/Orphanet_79156
Hydroxykynureninuria	Hydroxykynureninuria	Orphanet	79155	http://www.orpha.net/ORDO/Orphanet_79155
2-aminoadipic 2-oxoadipic aciduria	2-aminoadipic 2-oxoadipic aciduria	Orphanet	79154	http://www.orpha.net/ORDO/Orphanet_79154
Idiopathic trachyonychia	Idiopathic trachyonychia	Orphanet	79153	http://www.orpha.net/ORDO/Orphanet_79153
Disseminated superficial actinic porokeratosis	Disseminated superficial actinic porokeratosis	Orphanet	79152	http://www.orpha.net/ORDO/Orphanet_79152
Acrokeratosis verruciformis of Hopf	Acrokeratosis verruciformis of Hopf	Orphanet	79151	http://www.orpha.net/ORDO/Orphanet_79151
Linear and whorled nevoid hypermelanosis	Linear and whorled nevoid hypermelanosis	Orphanet	79150	http://www.orpha.net/ORDO/Orphanet_79150
Dermochondrocorneal dystrophy	Dermochondrocorneal dystrophy	Orphanet	79149	http://www.orpha.net/ORDO/Orphanet_79149
Elastosis perforans serpiginosa	Elastosis perforans serpiginosa	Orphanet	79148	http://www.orpha.net/ORDO/Orphanet_79148
Familial reactive perforating collagenosis	Familial reactive perforating collagenosis	Orphanet	79147	http://www.orpha.net/ORDO/Orphanet_79147
Familial progressive hyperpigmentation	Familial progressive hyperpigmentation	Orphanet	79146	http://www.orpha.net/ORDO/Orphanet_79146
Dowling-Degos disease	Dowling-Degos disease	Orphanet	79145	http://www.orpha.net/ORDO/Orphanet_79145
Isolated congenital onychodysplasia	Isolated congenital onychodysplasia	Orphanet	79144	http://www.orpha.net/ORDO/Orphanet_79144
Isolated congenital anonychia	Isolated congenital anonychia	Orphanet	79143	http://www.orpha.net/ORDO/Orphanet_79143
NON RARE IN EUROPE: Familial Dupuytren contracture	NON RARE IN EUROPE: Familial Dupuytren contracture	Orphanet	79142	http://www.orpha.net/ORDO/Orphanet_79142
Creatine deficiency syndrome	Creatine deficiency syndrome	Orphanet	79172	http://www.orpha.net/ORDO/Orphanet_79172
Disorder of methionine cycle and sulfur amino acid metabolism	Disorder of methionine cycle and sulfur amino acid metabolism	Orphanet	79173	http://www.orpha.net/ORDO/Orphanet_79173
Disorder of cobalamin metabolism and transport	Disorder of cobalamin metabolism and transport	Orphanet	79171	http://www.orpha.net/ORDO/Orphanet_79171
Disorder of bile acid synthesis	Disorder of bile acid synthesis	Orphanet	79168	http://www.orpha.net/ORDO/Orphanet_79168
Disorder of neurotransmitter metabolism and transport	Disorder of neurotransmitter metabolism and transport	Orphanet	79169	http://www.orpha.net/ORDO/Orphanet_79169
Disorder of amino acid absorption and transport	Disorder of amino acid absorption and transport	Orphanet	79166	http://www.orpha.net/ORDO/Orphanet_79166
Disorder of urea cycle metabolism and ammonia detoxification	Disorder of urea cycle metabolism and ammonia detoxification	Orphanet	79167	http://www.orpha.net/ORDO/Orphanet_79167
Classic organic aciduria	Classic organic aciduria	Orphanet	79163	http://www.orpha.net/ORDO/Orphanet_79163
Disorder of carbohydrate metabolism	Disorder of carbohydrate metabolism	Orphanet	79161	http://www.orpha.net/ORDO/Orphanet_79161
Cerebral organic aciduria	Cerebral organic aciduria	Orphanet	79158	http://www.orpha.net/ORDO/Orphanet_79158
Isobutyryl-CoA dehydrogenase deficiency	Isobutyryl-CoA dehydrogenase deficiency	Orphanet	79159	http://www.orpha.net/ORDO/Orphanet_79159
Developmental malformations-deafness-dystonia syndrome	Developmental malformations-deafness-dystonia syndrome	Orphanet	79107	http://www.orpha.net/ORDO/Orphanet_79107
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha	Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha	Orphanet	566231	http://www.orpha.net/ORDO/Orphanet_566231
Eiken syndrome	Eiken syndrome	Orphanet	79106	http://www.orpha.net/ORDO/Orphanet_79106
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta	Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta	Orphanet	566243	http://www.orpha.net/ORDO/Orphanet_566243
Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome	Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome	Orphanet	79118	http://www.orpha.net/ORDO/Orphanet_79118
Acute mast cell leukemia	Acute mast cell leukemia	Orphanet	566393	http://www.orpha.net/ORDO/Orphanet_566393
Mandibulofacial dysostosis-microcephaly syndrome	Mandibulofacial dysostosis-microcephaly syndrome	Orphanet	79113	http://www.orpha.net/ORDO/Orphanet_79113
Thyrotoxic periodic paralysis	Thyrotoxic periodic paralysis	Orphanet	79102	http://www.orpha.net/ORDO/Orphanet_79102
Myxofibrosarcoma	Myxofibrosarcoma	Orphanet	79105	http://www.orpha.net/ORDO/Orphanet_79105
Interstitial granulomatous dermatitis with arthritis	Interstitial granulomatous dermatitis with arthritis	Orphanet	79099	http://www.orpha.net/ORDO/Orphanet_79099
Sympathetic ophthalmia	Sympathetic ophthalmia	Orphanet	79098	http://www.orpha.net/ORDO/Orphanet_79098
Hyperprolinemia type 2	Hyperprolinemia type 2	Orphanet	79101	http://www.orpha.net/ORDO/Orphanet_79101
Congenital autosomal recessive small-platelet thrombocytopenia	Congenital autosomal recessive small-platelet thrombocytopenia	Orphanet	566192	http://www.orpha.net/ORDO/Orphanet_566192
Atrophoderma vermiculata	Atrophoderma vermiculata	Orphanet	79100	http://www.orpha.net/ORDO/Orphanet_79100
Congenital bile acid synthesis defect type 4	Congenital bile acid synthesis defect type 4	Orphanet	79095	http://www.orpha.net/ORDO/Orphanet_79095
Grange syndrome	Grange syndrome	Orphanet	79094	http://www.orpha.net/ORDO/Orphanet_79094
Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome	Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome	Orphanet	566175	http://www.orpha.net/ORDO/Orphanet_566175
Folinic acid-responsive seizures	Folinic acid-responsive seizures	Orphanet	79097	http://www.orpha.net/ORDO/Orphanet_79097
Pyridoxal phosphate-responsive seizures	Pyridoxal phosphate-responsive seizures	Orphanet	79096	http://www.orpha.net/ORDO/Orphanet_79096
Bickerstaff brainstem encephalitis	Bickerstaff brainstem encephalitis	Orphanet	79138	http://www.orpha.net/ORDO/Orphanet_79138
Japanese encephalitis	Japanese encephalitis	Orphanet	79139	http://www.orpha.net/ORDO/Orphanet_79139
Cutaneous neuroendocrine carcinoma	Cutaneous neuroendocrine carcinoma	Orphanet	79140	http://www.orpha.net/ORDO/Orphanet_79140
Hereditary painful callosities	Hereditary painful callosities	Orphanet	79141	http://www.orpha.net/ORDO/Orphanet_79141
DEND syndrome	DEND syndrome	Orphanet	79134	http://www.orpha.net/ORDO/Orphanet_79134
Episodic ataxia type 3	Episodic ataxia type 3	Orphanet	79135	http://www.orpha.net/ORDO/Orphanet_79135
Episodic ataxia type 4	Episodic ataxia type 4	Orphanet	79136	http://www.orpha.net/ORDO/Orphanet_79136
Generalized epilepsy-paroxysmal dyskinesia syndrome	Generalized epilepsy-paroxysmal dyskinesia syndrome	Orphanet	79137	http://www.orpha.net/ORDO/Orphanet_79137
Trichodysplasia-amelogenesis imperfecta syndrome	Trichodysplasia-amelogenesis imperfecta syndrome	Orphanet	79129	http://www.orpha.net/ORDO/Orphanet_79129
Focal facial dermal dysplasia type I	Focal facial dermal dysplasia type I	Orphanet	79133	http://www.orpha.net/ORDO/Orphanet_79133
Hepatic veno-occlusive disease-immunodeficiency syndrome	Hepatic veno-occlusive disease-immunodeficiency syndrome	Orphanet	79124	http://www.orpha.net/ORDO/Orphanet_79124
Chronic mast cell leukemia	Chronic mast cell leukemia	Orphanet	566396	http://www.orpha.net/ORDO/Orphanet_566396
Acute interstitial pneumonia	Acute interstitial pneumonia	Orphanet	79126	http://www.orpha.net/ORDO/Orphanet_79126
Respiratory bronchiolitis-interstitial lung disease syndrome	Respiratory bronchiolitis-interstitial lung disease syndrome	Orphanet	79127	http://www.orpha.net/ORDO/Orphanet_79127
Lymphoid interstitial pneumonia	Lymphoid interstitial pneumonia	Orphanet	79128	http://www.orpha.net/ORDO/Orphanet_79128
Niemann-Pick disease type B	Niemann-Pick disease type B	Orphanet	77293	http://www.orpha.net/ORDO/Orphanet_77293
Odontoleukodystrophy	Odontoleukodystrophy	Orphanet	77295	http://www.orpha.net/ORDO/Orphanet_77295
Gaucher disease type 3	Gaucher disease type 3	Orphanet	77261	http://www.orpha.net/ORDO/Orphanet_77261
Niemann-Pick disease type A	Niemann-Pick disease type A	Orphanet	77292	http://www.orpha.net/ORDO/Orphanet_77292
Anophthalmia/microphthalmia-esophageal atresia syndrome	Anophthalmia/microphthalmia-esophageal atresia syndrome	Orphanet	77298	http://www.orpha.net/ORDO/Orphanet_77298
Microphthalmia-brain atrophy syndrome	Microphthalmia-brain atrophy syndrome	Orphanet	77299	http://www.orpha.net/ORDO/Orphanet_77299
Morgagni-Stewart-Morel syndrome	Morgagni-Stewart-Morel syndrome	Orphanet	77296	http://www.orpha.net/ORDO/Orphanet_77296
Majeed syndrome	Majeed syndrome	Orphanet	77297	http://www.orpha.net/ORDO/Orphanet_77297
Oculo-oto-facial dysplasia	Oculo-oto-facial dysplasia	Orphanet	77302	http://www.orpha.net/ORDO/Orphanet_77302
B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome	B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome	Orphanet	567502	http://www.orpha.net/ORDO/Orphanet_567502
Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome	Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome	Orphanet	77300	http://www.orpha.net/ORDO/Orphanet_77300
Monosomy 9q22.3	Monosomy 9q22.3	Orphanet	77301	http://www.orpha.net/ORDO/Orphanet_77301
Idiopathic multidrug-resistant nephrotic syndrome	Idiopathic multidrug-resistant nephrotic syndrome	Orphanet	567550	http://www.orpha.net/ORDO/Orphanet_567550
Genetic obesity	Genetic obesity	Orphanet	77828	http://www.orpha.net/ORDO/Orphanet_77828
Idiopathic steroid-resistant nephrotic syndrome	Idiopathic steroid-resistant nephrotic syndrome	Orphanet	567548	http://www.orpha.net/ORDO/Orphanet_567548
Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance	Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance	Orphanet	567546	http://www.orpha.net/ORDO/Orphanet_567546
Idiopathic non-lupus full-house nephropathy	Idiopathic non-lupus full-house nephropathy	Orphanet	567544	http://www.orpha.net/ORDO/Orphanet_567544
Genetic systemic disease with glomerulopathy as a major feature	Genetic systemic disease with glomerulopathy as a major feature	Orphanet	567556	http://www.orpha.net/ORDO/Orphanet_567556
Simpson-Golabi-Behmel syndrome type 2	Simpson-Golabi-Behmel syndrome type 2	Orphanet	79022	http://www.orpha.net/ORDO/Orphanet_79022
Non-genetic systemic disease with glomerulopathy as a major feature	Non-genetic systemic disease with glomerulopathy as a major feature	Orphanet	567558	http://www.orpha.net/ORDO/Orphanet_567558
Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy	Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy	Orphanet	567552	http://www.orpha.net/ORDO/Orphanet_567552
Systemic disease with glomerulopathy as a major feature	Systemic disease with glomerulopathy as a major feature	Orphanet	567554	http://www.orpha.net/ORDO/Orphanet_567554
Rare genetic odontologic disease	Rare genetic odontologic disease	Orphanet	77830	http://www.orpha.net/ORDO/Orphanet_77830
Nephrotic syndrome without extrarenal manifestations	Nephrotic syndrome without extrarenal manifestations	Orphanet	567564	http://www.orpha.net/ORDO/Orphanet_567564
PPARG-related familial partial lipodystrophy	PPARG-related familial partial lipodystrophy	Orphanet	79083	http://www.orpha.net/ORDO/Orphanet_79083
IgG4-related dacryoadenitis and sialadenitis	IgG4-related dacryoadenitis and sialadenitis	Orphanet	79078	http://www.orpha.net/ORDO/Orphanet_79078
Systemic vasculitis associated with glomerulopathy	Systemic vasculitis associated with glomerulopathy	Orphanet	567560	http://www.orpha.net/ORDO/Orphanet_567560
Juvenile polyposis of infancy	Juvenile polyposis of infancy	Orphanet	79076	http://www.orpha.net/ORDO/Orphanet_79076
Disorder with multisystemic involvement and glomerulopathy	Disorder with multisystemic involvement and glomerulopathy	Orphanet	567562	http://www.orpha.net/ORDO/Orphanet_567562
Disorder of amino acid and other organic acid metabolism	Disorder of amino acid and other organic acid metabolism	Orphanet	79062	http://www.orpha.net/ORDO/Orphanet_79062
Acquired partial lipodystrophy	Acquired partial lipodystrophy	Orphanet	79087	http://www.orpha.net/ORDO/Orphanet_79087
Acquired generalized lipodystrophy	Acquired generalized lipodystrophy	Orphanet	79086	http://www.orpha.net/ORDO/Orphanet_79086
AKT2-related familial partial lipodystrophy	AKT2-related familial partial lipodystrophy	Orphanet	79085	http://www.orpha.net/ORDO/Orphanet_79085
Familial partial lipodystrophy, Köbberling type	Familial partial lipodystrophy, Köbberling type	Orphanet	79084	http://www.orpha.net/ORDO/Orphanet_79084
Parenteral nutrition-associated cholestasis	Parenteral nutrition-associated cholestasis	Orphanet	567983	http://www.orpha.net/ORDO/Orphanet_567983
Foix-Alajouanine syndrome	Foix-Alajouanine syndrome	Orphanet	79093	http://www.orpha.net/ORDO/Orphanet_79093
Primary lymphedema without systemic or visceral involvement	Primary lymphedema without systemic or visceral involvement	Orphanet	568041	http://www.orpha.net/ORDO/Orphanet_568041
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome	Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome	Orphanet	79091	http://www.orpha.net/ORDO/Orphanet_79091
Localized lipodystrophy	Localized lipodystrophy	Orphanet	79088	http://www.orpha.net/ORDO/Orphanet_79088
North Carolina macular dystrophy	North Carolina macular dystrophy	Orphanet	75327	http://www.orpha.net/ORDO/Orphanet_75327
Progressive bifocal chorioretinal atrophy	Progressive bifocal chorioretinal atrophy	Orphanet	75373	http://www.orpha.net/ORDO/Orphanet_75373
Bradyopsia	Bradyopsia	Orphanet	75374	http://www.orpha.net/ORDO/Orphanet_75374
Familial drusen	Familial drusen	Orphanet	75376	http://www.orpha.net/ORDO/Orphanet_75376
Central areolar choroidal dystrophy	Central areolar choroidal dystrophy	Orphanet	75377	http://www.orpha.net/ORDO/Orphanet_75377
Oligocone trichromacy	Oligocone trichromacy	Orphanet	75378	http://www.orpha.net/ORDO/Orphanet_75378
Cystoid macular dystrophy	Cystoid macular dystrophy	Orphanet	75381	http://www.orpha.net/ORDO/Orphanet_75381
Oguchi disease	Oguchi disease	Orphanet	75382	http://www.orpha.net/ORDO/Orphanet_75382
Aprosencephaly/atelencephaly spectrum	Aprosencephaly/atelencephaly spectrum	Orphanet	566847	http://www.orpha.net/ORDO/Orphanet_566847
Brain malformation-congenital heart disease-postaxial polydactyly syndrome	Brain malformation-congenital heart disease-postaxial polydactyly syndrome	Orphanet	75389	http://www.orpha.net/ORDO/Orphanet_75389
Liver adenomatosis	Liver adenomatosis	Orphanet	566841	http://www.orpha.net/ORDO/Orphanet_566841
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	Orphanet	75391	http://www.orpha.net/ORDO/Orphanet_75391
Aprosencephaly	Aprosencephaly	Orphanet	566857	http://www.orpha.net/ORDO/Orphanet_566857
Periodontal Ehlers-Danlos syndrome	Periodontal Ehlers-Danlos syndrome	Orphanet	75392	http://www.orpha.net/ORDO/Orphanet_75392
Atelencephaly	Atelencephaly	Orphanet	566852	http://www.orpha.net/ORDO/Orphanet_566852
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	Orphanet	75496	http://www.orpha.net/ORDO/Orphanet_75496
X-linked Ehlers-Danlos syndrome	X-linked Ehlers-Danlos syndrome	Orphanet	75497	http://www.orpha.net/ORDO/Orphanet_75497
Left sided atrial isomerism	Left sided atrial isomerism	Orphanet	566862	http://www.orpha.net/ORDO/Orphanet_566862
Angioosteohypotrophic syndrome	Angioosteohypotrophic syndrome	Orphanet	75508	http://www.orpha.net/ORDO/Orphanet_75508
X-linked sideroblastic anemia	X-linked sideroblastic anemia	Orphanet	75563	http://www.orpha.net/ORDO/Orphanet_75563
Mueller-Weiss syndrome	Mueller-Weiss syndrome	Orphanet	566943	http://www.orpha.net/ORDO/Orphanet_566943
Tropical endomyocardial fibrosis	Tropical endomyocardial fibrosis	Orphanet	75565	http://www.orpha.net/ORDO/Orphanet_75565
Acquired idiopathic sideroblastic anemia	Acquired idiopathic sideroblastic anemia	Orphanet	75564	http://www.orpha.net/ORDO/Orphanet_75564
Primary progressive freezing gait	Primary progressive freezing gait	Orphanet	75567	http://www.orpha.net/ORDO/Orphanet_75567
Loeffler endocarditis	Loeffler endocarditis	Orphanet	75566	http://www.orpha.net/ORDO/Orphanet_75566
Pollitt syndrome	Pollitt syndrome	Orphanet	75790	http://www.orpha.net/ORDO/Orphanet_75790
SIBIDS syndrome	SIBIDS syndrome	Orphanet	75789	http://www.orpha.net/ORDO/Orphanet_75789
6q terminal deletion syndrome	6q terminal deletion syndrome	Orphanet	75857	http://www.orpha.net/ORDO/Orphanet_75857
Congenital muscular dystrophy, Ullrich type	Congenital muscular dystrophy, Ullrich type	Orphanet	75840	http://www.orpha.net/ORDO/Orphanet_75840
Primary lymphedema	Primary lymphedema	Orphanet	77240	http://www.orpha.net/ORDO/Orphanet_77240
MORM syndrome	MORM syndrome	Orphanet	75858	http://www.orpha.net/ORDO/Orphanet_75858
Trichorhinophalangeal syndrome type 1 and 3	Trichorhinophalangeal syndrome type 1 and 3	Orphanet	77258	http://www.orpha.net/ORDO/Orphanet_77258
Lipedema	Lipedema	Orphanet	77243	http://www.orpha.net/ORDO/Orphanet_77243
Gaucher disease type 2	Gaucher disease type 2	Orphanet	77260	http://www.orpha.net/ORDO/Orphanet_77260
Gaucher disease type 1	Gaucher disease type 1	Orphanet	77259	http://www.orpha.net/ORDO/Orphanet_77259
Bleeding diathesis due to a collagen receptor defect	Bleeding diathesis due to a collagen receptor defect	Orphanet	73271	http://www.orpha.net/ORDO/Orphanet_73271
Zygomycosis	Zygomycosis	Orphanet	73263	http://www.orpha.net/ORDO/Orphanet_73263
Non-24-hour sleep-wake syndrome	Non-24-hour sleep-wake syndrome	Orphanet	73267	http://www.orpha.net/ORDO/Orphanet_73267
Central neurocytoma	Central neurocytoma	Orphanet	73256	http://www.orpha.net/ORDO/Orphanet_73256
Paracoccidioidomycosis	Paracoccidioidomycosis	Orphanet	73260	http://www.orpha.net/ORDO/Orphanet_73260
Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome	Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome	Orphanet	73246	http://www.orpha.net/ORDO/Orphanet_73246
Eosinophilic esophagitis	Eosinophilic esophagitis	Orphanet	73247	http://www.orpha.net/ORDO/Orphanet_73247
Congenital primary lymphedema of Gordon	Congenital primary lymphedema of Gordon	Orphanet	569821	http://www.orpha.net/ORDO/Orphanet_569821
Acute ackee fruit intoxication	Acute ackee fruit intoxication	Orphanet	73423	http://www.orpha.net/ORDO/Orphanet_73423
CELSR1-related late-onset primary lymphedema	CELSR1-related late-onset primary lymphedema	Orphanet	569816	http://www.orpha.net/ORDO/Orphanet_569816
Acquired hemophilia	Acquired hemophilia	Orphanet	73274	http://www.orpha.net/ORDO/Orphanet_73274
Growth delay due to insulin-like growth factor type 1 deficiency	Growth delay due to insulin-like growth factor type 1 deficiency	Orphanet	73272	http://www.orpha.net/ORDO/Orphanet_73272
Growth delay due to insulin-like growth factor I resistance	Growth delay due to insulin-like growth factor I resistance	Orphanet	73273	http://www.orpha.net/ORDO/Orphanet_73273
Retinal arterial tortuosity	Retinal arterial tortuosity	Orphanet	75326	http://www.orpha.net/ORDO/Orphanet_75326
Osteosclerosis-ichthyosis-premature ovarian failure syndrome	Osteosclerosis-ichthyosis-premature ovarian failure syndrome	Orphanet	75325	http://www.orpha.net/ORDO/Orphanet_75325
Familial isolated restrictive cardiomyopathy	Familial isolated restrictive cardiomyopathy	Orphanet	75249	http://www.orpha.net/ORDO/Orphanet_75249
Cholesteryl ester storage disease	Cholesteryl ester storage disease	Orphanet	75234	http://www.orpha.net/ORDO/Orphanet_75234
Wolman disease	Wolman disease	Orphanet	75233	http://www.orpha.net/ORDO/Orphanet_75233
Myiasis	Myiasis	Orphanet	75110	http://www.orpha.net/ORDO/Orphanet_75110
EPHB4-related lymphatic-related hydrops fetalis	EPHB4-related lymphatic-related hydrops fetalis	Orphanet	568065	http://www.orpha.net/ORDO/Orphanet_568065
Familial platelet disorder with associated myeloid malignancy	Familial platelet disorder with associated myeloid malignancy	Orphanet	71290	http://www.orpha.net/ORDO/Orphanet_71290
PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis	PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis	Orphanet	568062	http://www.orpha.net/ORDO/Orphanet_568062
Hereditary vascular retinopathy	Hereditary vascular retinopathy	Orphanet	71291	http://www.orpha.net/ORDO/Orphanet_71291
Familial thrombocytosis	Familial thrombocytosis	Orphanet	71493	http://www.orpha.net/ORDO/Orphanet_71493
Cancer-associated retinopathy	Cancer-associated retinopathy	Orphanet	71505	http://www.orpha.net/ORDO/Orphanet_71505
Disorder with multisystemic involvement and primary lymphedema	Disorder with multisystemic involvement and primary lymphedema	Orphanet	568047	http://www.orpha.net/ORDO/Orphanet_568047
Primary lymphedema with systemic or visceral involvement	Primary lymphedema with systemic or visceral involvement	Orphanet	568044	http://www.orpha.net/ORDO/Orphanet_568044
Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome	Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome	Orphanet	568056	http://www.orpha.net/ORDO/Orphanet_568056
GJC2-related late-onset primary lymphedema	GJC2-related late-onset primary lymphedema	Orphanet	568051	http://www.orpha.net/ORDO/Orphanet_568051
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome	Orphanet	71289	http://www.orpha.net/ORDO/Orphanet_71289
Obesity due to pro-opiomelanocortin deficiency	Obesity due to pro-opiomelanocortin deficiency	Orphanet	71526	http://www.orpha.net/ORDO/Orphanet_71526
Obesity due to prohormone convertase I deficiency	Obesity due to prohormone convertase I deficiency	Orphanet	71528	http://www.orpha.net/ORDO/Orphanet_71528
Obesity due to melanocortin 4 receptor deficiency	Obesity due to melanocortin 4 receptor deficiency	Orphanet	71529	http://www.orpha.net/ORDO/Orphanet_71529
Angiomatoid fibrous histiocytoma	Angiomatoid fibrous histiocytoma	Orphanet	569164	http://www.orpha.net/ORDO/Orphanet_569164
Rapid-onset dystonia-parkinsonism	Rapid-onset dystonia-parkinsonism	Orphanet	71517	http://www.orpha.net/ORDO/Orphanet_71517
Benign paroxysmal torticollis of infancy	Benign paroxysmal torticollis of infancy	Orphanet	71518	http://www.orpha.net/ORDO/Orphanet_71518
Psychogenic movement disorders	Psychogenic movement disorders	Orphanet	71519	http://www.orpha.net/ORDO/Orphanet_71519
Multiple mitochondrial dysfunctions syndrome type 5	Multiple mitochondrial dysfunctions syndrome type 5	Orphanet	569274	http://www.orpha.net/ORDO/Orphanet_569274
Inherited retinal disorder	Inherited retinal disorder	Orphanet	71862	http://www.orpha.net/ORDO/Orphanet_71862
Multiple mitochondrial dysfunctions syndrome type 6	Multiple mitochondrial dysfunctions syndrome type 6	Orphanet	569290	http://www.orpha.net/ORDO/Orphanet_569290
Muscular channelopathy	Muscular channelopathy	Orphanet	71864	http://www.orpha.net/ORDO/Orphanet_71864
Rare genetic neurological disorder	Rare genetic neurological disorder	Orphanet	71859	http://www.orpha.net/ORDO/Orphanet_71859
Microcystic stromal tumor	Microcystic stromal tumor	Orphanet	569248	http://www.orpha.net/ORDO/Orphanet_569248
HANAC syndrome	HANAC syndrome	Orphanet	73229	http://www.orpha.net/ORDO/Orphanet_73229
Tubular renal disease-cardiomyopathy syndrome	Tubular renal disease-cardiomyopathy syndrome	Orphanet	73224	http://www.orpha.net/ORDO/Orphanet_73224
Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome	Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome	Orphanet	73245	http://www.orpha.net/ORDO/Orphanet_73245
Ossification anomalies-psychomotor developmental delay syndrome	Ossification anomalies-psychomotor developmental delay syndrome	Orphanet	73230	http://www.orpha.net/ORDO/Orphanet_73230
Müllerian aplasia	Müllerian aplasia	Orphanet	73217	http://www.orpha.net/ORDO/Orphanet_73217
Intractable diarrhea of infancy	Intractable diarrhea of infancy	Orphanet	73014	http://www.orpha.net/ORDO/Orphanet_73014
Global developmental delay-osteopenia-ectodermal defect syndrome	Global developmental delay-osteopenia-ectodermal defect syndrome	Orphanet	73223	http://www.orpha.net/ORDO/Orphanet_73223
X-linked intellectual disability-hypotonic face syndrome	X-linked intellectual disability-hypotonic face syndrome	Orphanet	73220	http://www.orpha.net/ORDO/Orphanet_73220
Acitretin/etretinate embryopathy	Acitretin/etretinate embryopathy	Orphanet	40366	http://www.orpha.net/ORDO/Orphanet_40366
Eales disease	Eales disease	Orphanet	40923	http://www.orpha.net/ORDO/Orphanet_40923
Graft versus host disease	Graft versus host disease	Orphanet	39812	http://www.orpha.net/ORDO/Orphanet_39812
NON RARE IN EUROPE: Psoriatic arthritis	NON RARE IN EUROPE: Psoriatic arthritis	Orphanet	40050	http://www.orpha.net/ORDO/Orphanet_40050
Familial apolipoprotein A5 deficiency	Familial apolipoprotein A5 deficiency	Orphanet	530849	http://www.orpha.net/ORDO/Orphanet_530849
Omenn syndrome	Omenn syndrome	Orphanet	39041	http://www.orpha.net/ORDO/Orphanet_39041
KRT1-related diffuse nonepidermolytic keratoderma	KRT1-related diffuse nonepidermolytic keratoderma	Orphanet	530838	http://www.orpha.net/ORDO/Orphanet_530838
Uveal melanoma	Uveal melanoma	Orphanet	39044	http://www.orpha.net/ORDO/Orphanet_39044
RELA fusion-positive ependymoma	RELA fusion-positive ependymoma	Orphanet	530792	http://www.orpha.net/ORDO/Orphanet_530792
Dihydropyrimidinuria	Dihydropyrimidinuria	Orphanet	38874	http://www.orpha.net/ORDO/Orphanet_38874
Schnitzler syndrome	Schnitzler syndrome	Orphanet	37748	http://www.orpha.net/ORDO/Orphanet_37748
PIK3CA-related overgrowth syndrome	PIK3CA-related overgrowth syndrome	Orphanet	530313	http://www.orpha.net/ORDO/Orphanet_530313
Progressive dementia with neuroserpin inclusion bodies	Progressive dementia with neuroserpin inclusion bodies	Orphanet	530303	http://www.orpha.net/ORDO/Orphanet_530303
Neonatal neutropenia	Neonatal neutropenia	Orphanet	37629	http://www.orpha.net/ORDO/Orphanet_37629
Episodic ataxia type 1	Episodic ataxia type 1	Orphanet	37612	http://www.orpha.net/ORDO/Orphanet_37612
Acquired kinky hair syndrome	Acquired kinky hair syndrome	Orphanet	37559	http://www.orpha.net/ORDO/Orphanet_37559
Progressive myoclonic epilepsy with neuroserpin inclusion bodies	Progressive myoclonic epilepsy with neuroserpin inclusion bodies	Orphanet	530298	http://www.orpha.net/ORDO/Orphanet_530298
Andersen-Tawil syndrome	Andersen-Tawil syndrome	Orphanet	37553	http://www.orpha.net/ORDO/Orphanet_37553
Interstitial cystitis	Interstitial cystitis	Orphanet	37202	http://www.orpha.net/ORDO/Orphanet_37202
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	Orphanet	37042	http://www.orpha.net/ORDO/Orphanet_37042
Autoimmune hypoparathyroidism	Autoimmune hypoparathyroidism	Orphanet	36913	http://www.orpha.net/ORDO/Orphanet_36913
Myoclonus-dystonia syndrome	Myoclonus-dystonia syndrome	Orphanet	36899	http://www.orpha.net/ORDO/Orphanet_36899
Rare sleep disorder	Rare sleep disorder	Orphanet	68354	http://www.orpha.net/ORDO/Orphanet_68354
Leukodystrophy	Leukodystrophy	Orphanet	68356	http://www.orpha.net/ORDO/Orphanet_68356
Rare genetic skin disease	Rare genetic skin disease	Orphanet	68346	http://www.orpha.net/ORDO/Orphanet_68346
Tumor of hematopoietic and lymphoid tissues	Tumor of hematopoietic and lymphoid tissues	Orphanet	68347	http://www.orpha.net/ORDO/Orphanet_68347
Multiple congenital anomalies/dysmorphic syndrome	Multiple congenital anomalies/dysmorphic syndrome	Orphanet	68341	http://www.orpha.net/ORDO/Orphanet_68341
Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Orphanet	68334	http://www.orpha.net/ORDO/Orphanet_68334
Rare genetic tumor	Rare genetic tumor	Orphanet	68336	http://www.orpha.net/ORDO/Orphanet_68336
9q21.13 microdeletion syndrome	9q21.13 microdeletion syndrome	Orphanet	531151	http://www.orpha.net/ORDO/Orphanet_531151
Rare chromosomal anomaly	Rare chromosomal anomaly	Orphanet	68335	http://www.orpha.net/ORDO/Orphanet_68335
Rare maxillo-facial surgical disease	Rare maxillo-facial surgical disease	Orphanet	68329	http://www.orpha.net/ORDO/Orphanet_68329
Lamb-Shaffer syndrome	Lamb-Shaffer syndrome	Orphanet	530983	http://www.orpha.net/ORDO/Orphanet_530983
Mixed phenotype acute leukemia	Mixed phenotype acute leukemia	Orphanet	530995	http://www.orpha.net/ORDO/Orphanet_530995
NON RARE IN EUROPE: Fibromyalgia	NON RARE IN EUROPE: Fibromyalgia	Orphanet	41842	http://www.orpha.net/ORDO/Orphanet_41842
Bietti crystalline dystrophy	Bietti crystalline dystrophy	Orphanet	41751	http://www.orpha.net/ORDO/Orphanet_41751
Iminoglycinuria	Iminoglycinuria	Orphanet	42062	http://www.orpha.net/ORDO/Orphanet_42062
Neurometabolic disorder due to serine deficiency	Neurometabolic disorder due to serine deficiency	Orphanet	35705	http://www.orpha.net/ORDO/Orphanet_35705
Glutaric acidemia type 3	Glutaric acidemia type 3	Orphanet	35706	http://www.orpha.net/ORDO/Orphanet_35706
L-Arginine:glycine amidinotransferase deficiency	L-Arginine:glycine amidinotransferase deficiency	Orphanet	35704	http://www.orpha.net/ORDO/Orphanet_35704
Glucose-galactose malabsorption	Glucose-galactose malabsorption	Orphanet	35710	http://www.orpha.net/ORDO/Orphanet_35710
Morning glory disc anomaly	Morning glory disc anomaly	Orphanet	35737	http://www.orpha.net/ORDO/Orphanet_35737
Aromatic L-amino acid decarboxylase deficiency	Aromatic L-amino acid decarboxylase deficiency	Orphanet	35708	http://www.orpha.net/ORDO/Orphanet_35708
Mitochondrial disorder due to a defect in mitochondrial protein synthesis	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	Orphanet	35696	http://www.orpha.net/ORDO/Orphanet_35696
Primary lateral sclerosis	Primary lateral sclerosis	Orphanet	35689	http://www.orpha.net/ORDO/Orphanet_35689
3-hydroxy-3-methylglutaryl-CoA synthase deficiency	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	Orphanet	35701	http://www.orpha.net/ORDO/Orphanet_35701
Mitochondrial DNA depletion syndrome	Mitochondrial DNA depletion syndrome	Orphanet	35698	http://www.orpha.net/ORDO/Orphanet_35698
Nanophthalmos	Nanophthalmos	Orphanet	35612	http://www.orpha.net/ORDO/Orphanet_35612
X-linked dominant chondrodysplasia punctata	X-linked dominant chondrodysplasia punctata	Orphanet	35173	http://www.orpha.net/ORDO/Orphanet_35173
Erdheim-Chester disease	Erdheim-Chester disease	Orphanet	35687	http://www.orpha.net/ORDO/Orphanet_35687
Serpiginous choroiditis	Serpiginous choroiditis	Orphanet	35686	http://www.orpha.net/ORDO/Orphanet_35686
ALDH18A1-related De Barsy syndrome	ALDH18A1-related De Barsy syndrome	Orphanet	35664	http://www.orpha.net/ORDO/Orphanet_35664
Coenzyme Q10 deficiency	Coenzyme Q10 deficiency	Orphanet	35656	http://www.orpha.net/ORDO/Orphanet_35656
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	Orphanet	35120	http://www.orpha.net/ORDO/Orphanet_35120
Desmosterolosis	Desmosterolosis	Orphanet	35107	http://www.orpha.net/ORDO/Orphanet_35107
Isolated brachycephaly	Isolated brachycephaly	Orphanet	35099	http://www.orpha.net/ORDO/Orphanet_35099
Isolated plagiocephaly	Isolated plagiocephaly	Orphanet	35098	http://www.orpha.net/ORDO/Orphanet_35098
Epidermal nevus syndrome	Epidermal nevus syndrome	Orphanet	35125	http://www.orpha.net/ORDO/Orphanet_35125
Congenital sucrase-isomaltase deficiency	Congenital sucrase-isomaltase deficiency	Orphanet	35122	http://www.orpha.net/ORDO/Orphanet_35122
Lysosomal acid phosphatase deficiency	Lysosomal acid phosphatase deficiency	Orphanet	35121	http://www.orpha.net/ORDO/Orphanet_35121
Generalized epilepsy with febrile seizures-plus	Generalized epilepsy with febrile seizures-plus	Orphanet	36387	http://www.orpha.net/ORDO/Orphanet_36387
Paraneoplastic neurologic syndrome	Paraneoplastic neurologic syndrome	Orphanet	36388	http://www.orpha.net/ORDO/Orphanet_36388
Adiposis dolorosa	Adiposis dolorosa	Orphanet	36397	http://www.orpha.net/ORDO/Orphanet_36397
Hypocomplementemic urticarial vasculitis	Hypocomplementemic urticarial vasculitis	Orphanet	36412	http://www.orpha.net/ORDO/Orphanet_36412
Stevens-Johnson syndrome	Stevens-Johnson syndrome	Orphanet	36426	http://www.orpha.net/ORDO/Orphanet_36426
NON RARE IN EUROPE: Anorexia nervosa	NON RARE IN EUROPE: Anorexia nervosa	Orphanet	36297	http://www.orpha.net/ORDO/Orphanet_36297
Bleeding disorder due to P2Y12 defect	Bleeding disorder due to P2Y12 defect	Orphanet	36355	http://www.orpha.net/ORDO/Orphanet_36355
Distal monosomy 1q	Distal monosomy 1q	Orphanet	36367	http://www.orpha.net/ORDO/Orphanet_36367
Familial cervical artery dissection	Familial cervical artery dissection	Orphanet	36382	http://www.orpha.net/ORDO/Orphanet_36382
COL4A1-related familial vascular leukoencephalopathy	COL4A1-related familial vascular leukoencephalopathy	Orphanet	36383	http://www.orpha.net/ORDO/Orphanet_36383
Hereditary sensory and autonomic neuropathy type 1	Hereditary sensory and autonomic neuropathy type 1	Orphanet	36386	http://www.orpha.net/ORDO/Orphanet_36386
Bacterial toxic-shock syndrome	Bacterial toxic-shock syndrome	Orphanet	36234	http://www.orpha.net/ORDO/Orphanet_36234
Staphylococcal scalded skin syndrome	Staphylococcal scalded skin syndrome	Orphanet	36236	http://www.orpha.net/ORDO/Orphanet_36236
Staphylococcal scarlet fever	Staphylococcal scarlet fever	Orphanet	36235	http://www.orpha.net/ORDO/Orphanet_36235
Staphylococcal necrotizing pneumonia	Staphylococcal necrotizing pneumonia	Orphanet	36238	http://www.orpha.net/ORDO/Orphanet_36238
Bullous impetigo	Bullous impetigo	Orphanet	36237	http://www.orpha.net/ORDO/Orphanet_36237
Gastric linitis plastica	Gastric linitis plastica	Orphanet	36273	http://www.orpha.net/ORDO/Orphanet_36273
Buerger disease	Buerger disease	Orphanet	36258	http://www.orpha.net/ORDO/Orphanet_36258
Malignant sex cord stromal tumor of ovary	Malignant sex cord stromal tumor of ovary	Orphanet	35808	http://www.orpha.net/ORDO/Orphanet_35808
Malignant germ cell tumor of ovary	Malignant germ cell tumor of ovary	Orphanet	35807	http://www.orpha.net/ORDO/Orphanet_35807
Hyperinsulinism-hyperammonemia syndrome	Hyperinsulinism-hyperammonemia syndrome	Orphanet	35878	http://www.orpha.net/ORDO/Orphanet_35878
Imerslund-Gräsbeck syndrome	Imerslund-Gräsbeck syndrome	Orphanet	35858	http://www.orpha.net/ORDO/Orphanet_35858
Combined deficiency of factor V and factor VIII	Combined deficiency of factor V and factor VIII	Orphanet	35909	http://www.orpha.net/ORDO/Orphanet_35909
Acute opioid poisoning	Acute opioid poisoning	Orphanet	35889	http://www.orpha.net/ORDO/Orphanet_35889
Intestinal lymphangiectasia	Intestinal lymphangiectasia	Orphanet	36204	http://www.orpha.net/ORDO/Orphanet_36204
Polymicrogyria	Polymicrogyria	Orphanet	35981	http://www.orpha.net/ORDO/Orphanet_35981
5-oxoprolinase deficiency	5-oxoprolinase deficiency	Orphanet	33572	http://www.orpha.net/ORDO/Orphanet_33572
Kleine-Levin syndrome	Kleine-Levin syndrome	Orphanet	33543	http://www.orpha.net/ORDO/Orphanet_33543
Meningococcal meningitis	Meningococcal meningitis	Orphanet	33475	http://www.orpha.net/ORDO/Orphanet_33475
Neuroectodermal melanolysosomal disease	Neuroectodermal melanolysosomal disease	Orphanet	33445	http://www.orpha.net/ORDO/Orphanet_33445
NON RARE IN EUROPE: Lichen sclerosus	NON RARE IN EUROPE: Lichen sclerosus	Orphanet	33409	http://www.orpha.net/ORDO/Orphanet_33409
Bullous lichen planus	Bullous lichen planus	Orphanet	33408	http://www.orpha.net/ORDO/Orphanet_33408
Familial GPIHBP1 deficiency	Familial GPIHBP1 deficiency	Orphanet	535458	http://www.orpha.net/ORDO/Orphanet_535458
Pediatric hepatocellular carcinoma	Pediatric hepatocellular carcinoma	Orphanet	33402	http://www.orpha.net/ORDO/Orphanet_33402
NON RARE IN EUROPE: HAIR-AN syndrome	NON RARE IN EUROPE: HAIR-AN syndrome	Orphanet	34412	http://www.orpha.net/ORDO/Orphanet_34412
Naxos disease	Naxos disease	Orphanet	34217	http://www.orpha.net/ORDO/Orphanet_34217
Autosomal dominant tubulointerstitial kidney disease	Autosomal dominant tubulointerstitial kidney disease	Orphanet	34149	http://www.orpha.net/ORDO/Orphanet_34149
NON RARE IN EUROPE: Berger disease	NON RARE IN EUROPE: Berger disease	Orphanet	34145	http://www.orpha.net/ORDO/Orphanet_34145
Nodular non-suppurative panniculitis	Nodular non-suppurative panniculitis	Orphanet	33577	http://www.orpha.net/ORDO/Orphanet_33577
Glutamate-cysteine ligase deficiency	Glutamate-cysteine ligase deficiency	Orphanet	33574	http://www.orpha.net/ORDO/Orphanet_33574
Gamma-glutamyl transpeptidase deficiency	Gamma-glutamyl transpeptidase deficiency	Orphanet	33573	http://www.orpha.net/ORDO/Orphanet_33573
Autosomal agammaglobulinemia	Autosomal agammaglobulinemia	Orphanet	33110	http://www.orpha.net/ORDO/Orphanet_33110
Granulomatous slack skin	Granulomatous slack skin	Orphanet	33111	http://www.orpha.net/ORDO/Orphanet_33111
Lethal multiple pterygium syndrome	Lethal multiple pterygium syndrome	Orphanet	33108	http://www.orpha.net/ORDO/Orphanet_33108
Metaphyseal chondrodysplasia, Jansen type	Metaphyseal chondrodysplasia, Jansen type	Orphanet	33067	http://www.orpha.net/ORDO/Orphanet_33067
Dravet syndrome	Dravet syndrome	Orphanet	33069	http://www.orpha.net/ORDO/Orphanet_33069
Lymphedema-distichiasis syndrome	Lymphedema-distichiasis syndrome	Orphanet	33001	http://www.orpha.net/ORDO/Orphanet_33001
Reticular dysgenesis	Reticular dysgenesis	Orphanet	33355	http://www.orpha.net/ORDO/Orphanet_33355
Familial lipase maturation factor 1 deficiency	Familial lipase maturation factor 1 deficiency	Orphanet	535453	http://www.orpha.net/ORDO/Orphanet_535453
Trichothiodystrophy	Trichothiodystrophy	Orphanet	33364	http://www.orpha.net/ORDO/Orphanet_33364
Kaposi sarcoma	Kaposi sarcoma	Orphanet	33276	http://www.orpha.net/ORDO/Orphanet_33276
Jessner lymphocytic infiltration of the skin	Jessner lymphocytic infiltration of the skin	Orphanet	33314	http://www.orpha.net/ORDO/Orphanet_33314
NON RARE IN EUROPE: Non-alcoholic fatty liver disease	NON RARE IN EUROPE: Non-alcoholic fatty liver disease	Orphanet	33271	http://www.orpha.net/ORDO/Orphanet_33271
Idiopathic hypersomnia	Idiopathic hypersomnia	Orphanet	33208	http://www.orpha.net/ORDO/Orphanet_33208
Waldenström macroglobulinemia	Waldenström macroglobulinemia	Orphanet	33226	http://www.orpha.net/ORDO/Orphanet_33226
NON RARE IN EUROPE: Trimethylaminuria	NON RARE IN EUROPE: Trimethylaminuria	Orphanet	35056	http://www.orpha.net/ORDO/Orphanet_35056
Infantile neuroaxonal dystrophy	Infantile neuroaxonal dystrophy	Orphanet	35069	http://www.orpha.net/ORDO/Orphanet_35069
NON RARE IN EUROPE: Idiopathic cutaneous and mucosal candidosis	NON RARE IN EUROPE: Idiopathic cutaneous and mucosal candidosis	Orphanet	35066	http://www.orpha.net/ORDO/Orphanet_35066
Isolated scaphocephaly	Isolated scaphocephaly	Orphanet	35093	http://www.orpha.net/ORDO/Orphanet_35093
T-B+ severe combined immunodeficiency due to JAK3 deficiency	T-B+ severe combined immunodeficiency due to JAK3 deficiency	Orphanet	35078	http://www.orpha.net/ORDO/Orphanet_35078
Fulminant viral hepatitis	Fulminant viral hepatitis	Orphanet	35063	http://www.orpha.net/ORDO/Orphanet_35063
Idiopathic disseminated cytomegalovirus infection	Idiopathic disseminated cytomegalovirus infection	Orphanet	35062	http://www.orpha.net/ORDO/Orphanet_35062
Congenital muscular dystrophy with integrin alpha-7 deficiency	Congenital muscular dystrophy with integrin alpha-7 deficiency	Orphanet	34520	http://www.orpha.net/ORDO/Orphanet_34520
Distal myopathy with early respiratory muscle involvement	Distal myopathy with early respiratory muscle involvement	Orphanet	34521	http://www.orpha.net/ORDO/Orphanet_34521
Telethonin-related  limb-girdle muscular dystrophy R7	Telethonin-related  limb-girdle muscular dystrophy R7	Orphanet	34514	http://www.orpha.net/ORDO/Orphanet_34514
FKRP-related  limb-girdle muscular dystrophy R9	FKRP-related  limb-girdle muscular dystrophy R9	Orphanet	34515	http://www.orpha.net/ORDO/Orphanet_34515
DNAJB6-related  limb-girdle muscular dystrophy D1	DNAJB6-related  limb-girdle muscular dystrophy D1	Orphanet	34516	http://www.orpha.net/ORDO/Orphanet_34516
Autosomal dominant limb-girdle muscular dystrophy type 1E	Autosomal dominant limb-girdle muscular dystrophy type 1E	Orphanet	34517	http://www.orpha.net/ORDO/Orphanet_34517
Glycogen storage disease due to LAMP-2 deficiency	Glycogen storage disease due to LAMP-2 deficiency	Orphanet	34587	http://www.orpha.net/ORDO/Orphanet_34587
Immunodeficiency by defective expression of MHC class I	Immunodeficiency by defective expression of MHC class I	Orphanet	34592	http://www.orpha.net/ORDO/Orphanet_34592
Genetic primary hypomagnesemia	Genetic primary hypomagnesemia	Orphanet	34526	http://www.orpha.net/ORDO/Orphanet_34526
Familial primary hypomagnesemia with normocalciuria and normocalcemia	Familial primary hypomagnesemia with normocalciuria and normocalcemia	Orphanet	34527	http://www.orpha.net/ORDO/Orphanet_34527
Autosomal dominant primary hypomagnesemia with hypocalciuria	Autosomal dominant primary hypomagnesemia with hypocalciuria	Orphanet	34528	http://www.orpha.net/ORDO/Orphanet_34528
Corneal dystrophy	Corneal dystrophy	Orphanet	34533	http://www.orpha.net/ORDO/Orphanet_34533
RASopathy	RASopathy	Orphanet	536391	http://www.orpha.net/ORDO/Orphanet_536391
Myopathic Ehlers-Danlos syndrome	Myopathic Ehlers-Danlos syndrome	Orphanet	536516	http://www.orpha.net/ORDO/Orphanet_536516
Spondylodysplastic Ehlers-Danlos syndrome	Spondylodysplastic Ehlers-Danlos syndrome	Orphanet	536471	http://www.orpha.net/ORDO/Orphanet_536471
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	Orphanet	536467	http://www.orpha.net/ORDO/Orphanet_536467
Kyphoscoliotic Ehlers-Danlos syndrome	Kyphoscoliotic Ehlers-Danlos syndrome	Orphanet	536545	http://www.orpha.net/ORDO/Orphanet_536545
Classical-like Ehlers-Danlos syndrome type 2	Classical-like Ehlers-Danlos syndrome type 2	Orphanet	536532	http://www.orpha.net/ORDO/Orphanet_536532
PLG-related hereditary angioedema with normal C1Inh	PLG-related hereditary angioedema with normal C1Inh	Orphanet	537072	http://www.orpha.net/ORDO/Orphanet_537072
Tumor necrosis factor receptor 1 associated periodic syndrome	Tumor necrosis factor receptor 1 associated periodic syndrome	Orphanet	32960	http://www.orpha.net/ORDO/Orphanet_32960
Rare teratologic disease	Rare teratologic disease	Orphanet	52662	http://www.orpha.net/ORDO/Orphanet_52662
Pseudo-von Willebrand disease	Pseudo-von Willebrand disease	Orphanet	52530	http://www.orpha.net/ORDO/Orphanet_52530
Myelodysplastic syndrome	Myelodysplastic syndrome	Orphanet	52688	http://www.orpha.net/ORDO/Orphanet_52688
ANGPT1-related hereditary angioedema with normal C1Inh	ANGPT1-related hereditary angioedema with normal C1Inh	Orphanet	537891	http://www.orpha.net/ORDO/Orphanet_537891
Branchiootic syndrome	Branchiootic syndrome	Orphanet	52429	http://www.orpha.net/ORDO/Orphanet_52429
Congenital muscular dystrophy type 1C	Congenital muscular dystrophy type 1C	Orphanet	52428	http://www.orpha.net/ORDO/Orphanet_52428
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Orphanet	538096	http://www.orpha.net/ORDO/Orphanet_538096
X-linked creatine transporter deficiency	X-linked creatine transporter deficiency	Orphanet	52503	http://www.orpha.net/ORDO/Orphanet_52503
Congenital axonal neuropathy with encephalopathy	Congenital axonal neuropathy with encephalopathy	Orphanet	538101	http://www.orpha.net/ORDO/Orphanet_538101
Neurological channelopathy of the central nervous system due to a genetic chloride channel defect	Neurological channelopathy of the central nervous system due to a genetic chloride channel defect	Orphanet	538238	http://www.orpha.net/ORDO/Orphanet_538238
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Orphanet	52430	http://www.orpha.net/ORDO/Orphanet_52430
Mantle cell lymphoma	Mantle cell lymphoma	Orphanet	52416	http://www.orpha.net/ORDO/Orphanet_52416
Retinitis punctata albescens	Retinitis punctata albescens	Orphanet	52427	http://www.orpha.net/ORDO/Orphanet_52427
MALT lymphoma	MALT lymphoma	Orphanet	52417	http://www.orpha.net/ORDO/Orphanet_52417
Ulnar/fibula ray defect-brachydactyly syndrome	Ulnar/fibula ray defect-brachydactyly syndrome	Orphanet	52056	http://www.orpha.net/ORDO/Orphanet_52056
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	Orphanet	52055	http://www.orpha.net/ORDO/Orphanet_52055
Mohr-Tranebjaerg syndrome	Mohr-Tranebjaerg syndrome	Orphanet	52368	http://www.orpha.net/ORDO/Orphanet_52368
Premature chromosome condensation with microcephaly and intellectual disability	Premature chromosome condensation with microcephaly and intellectual disability	Orphanet	52183	http://www.orpha.net/ORDO/Orphanet_52183
Muenke syndrome	Muenke syndrome	Orphanet	53271	http://www.orpha.net/ORDO/Orphanet_53271
Familial cutaneous collagenoma	Familial cutaneous collagenoma	Orphanet	53296	http://www.orpha.net/ORDO/Orphanet_53296
Brody myopathy	Brody myopathy	Orphanet	53347	http://www.orpha.net/ORDO/Orphanet_53347
Orbital leiomyoma	Orbital leiomyoma	Orphanet	52994	http://www.orpha.net/ORDO/Orphanet_52994
Caroli disease	Caroli disease	Orphanet	53035	http://www.orpha.net/ORDO/Orphanet_53035
Vasculitis	Vasculitis	Orphanet	52759	http://www.orpha.net/ORDO/Orphanet_52759
Isolated follicle stimulating hormone deficiency	Isolated follicle stimulating hormone deficiency	Orphanet	52901	http://www.orpha.net/ORDO/Orphanet_52901
Congenital lactase deficiency	Congenital lactase deficiency	Orphanet	53690	http://www.orpha.net/ORDO/Orphanet_53690
Congenital chloride diarrhea	Congenital chloride diarrhea	Orphanet	53689	http://www.orpha.net/ORDO/Orphanet_53689
Classic pyoderma gangrenosum	Classic pyoderma gangrenosum	Orphanet	538863	http://www.orpha.net/ORDO/Orphanet_538863
Familial multiple discoid fibromas	Familial multiple discoid fibromas	Orphanet	538756	http://www.orpha.net/ORDO/Orphanet_538756
Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome	Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome	Orphanet	538574	http://www.orpha.net/ORDO/Orphanet_538574
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity	Orphanet	53583	http://www.orpha.net/ORDO/Orphanet_53583
Goldmann-Favre syndrome	Goldmann-Favre syndrome	Orphanet	53540	http://www.orpha.net/ORDO/Orphanet_53540
Hereditary geniospasm	Hereditary geniospasm	Orphanet	53372	http://www.orpha.net/ORDO/Orphanet_53372
X-linked dystonia-parkinsonism	X-linked dystonia-parkinsonism	Orphanet	53351	http://www.orpha.net/ORDO/Orphanet_53351
Left ventricular noncompaction	Left ventricular noncompaction	Orphanet	54260	http://www.orpha.net/ORDO/Orphanet_54260
Posterior cortical atrophy	Posterior cortical atrophy	Orphanet	54247	http://www.orpha.net/ORDO/Orphanet_54247
X-linked lymphoproliferative disease due to XIAP deficiency	X-linked lymphoproliferative disease due to XIAP deficiency	Orphanet	538934	http://www.orpha.net/ORDO/Orphanet_538934
Corticosteroid-sensitive aseptic abscess syndrome	Corticosteroid-sensitive aseptic abscess syndrome	Orphanet	54251	http://www.orpha.net/ORDO/Orphanet_54251
X-linked lymphoproliferative disease due to SH2D1A deficiency	X-linked lymphoproliferative disease due to SH2D1A deficiency	Orphanet	538931	http://www.orpha.net/ORDO/Orphanet_538931
Thrombotic thrombocytopenic purpura	Thrombotic thrombocytopenic purpura	Orphanet	54057	http://www.orpha.net/ORDO/Orphanet_54057
Myotonic dystrophy type 3	Myotonic dystrophy type 3	Orphanet	54238	http://www.orpha.net/ORDO/Orphanet_54238
Distal hereditary motor neuropathy	Distal hereditary motor neuropathy	Orphanet	53739	http://www.orpha.net/ORDO/Orphanet_53739
Plummer-Vinson syndrome	Plummer-Vinson syndrome	Orphanet	54028	http://www.orpha.net/ORDO/Orphanet_54028
Wyburn-Mason syndrome	Wyburn-Mason syndrome	Orphanet	53719	http://www.orpha.net/ORDO/Orphanet_53719
Spinal arteriovenous metameric syndrome	Spinal arteriovenous metameric syndrome	Orphanet	53721	http://www.orpha.net/ORDO/Orphanet_53721
Hyaline body myopathy	Hyaline body myopathy	Orphanet	53698	http://www.orpha.net/ORDO/Orphanet_53698
Familial tumoral calcinosis	Familial tumoral calcinosis	Orphanet	53715	http://www.orpha.net/ORDO/Orphanet_53715
Arthrogryposis-anterior horn cell disease syndrome	Arthrogryposis-anterior horn cell disease syndrome	Orphanet	53696	http://www.orpha.net/ORDO/Orphanet_53696
Vegetative pyoderma gangrenosum	Vegetative pyoderma gangrenosum	Orphanet	538872	http://www.orpha.net/ORDO/Orphanet_538872
Gnathodiaphyseal dysplasia	Gnathodiaphyseal dysplasia	Orphanet	53697	http://www.orpha.net/ORDO/Orphanet_53697
Congenital cornea plana	Congenital cornea plana	Orphanet	53691	http://www.orpha.net/ORDO/Orphanet_53691
Bullous pyoderma gangrenosum	Bullous pyoderma gangrenosum	Orphanet	538869	http://www.orpha.net/ORDO/Orphanet_538869
Pustular pyoderma gangrenosum	Pustular pyoderma gangrenosum	Orphanet	538866	http://www.orpha.net/ORDO/Orphanet_538866
GRACILE syndrome	GRACILE syndrome	Orphanet	53693	http://www.orpha.net/ORDO/Orphanet_53693
Aceruloplasminemia	Aceruloplasminemia	Orphanet	48818	http://www.orpha.net/ORDO/Orphanet_48818
Embryonal carcinoma of the central nervous system	Embryonal carcinoma of the central nervous system	Orphanet	48736	http://www.orpha.net/ORDO/Orphanet_48736
IgG4-related retroperitoneal fibrosis	IgG4-related retroperitoneal fibrosis	Orphanet	49041	http://www.orpha.net/ORDO/Orphanet_49041
Focal myositis	Focal myositis	Orphanet	48918	http://www.orpha.net/ORDO/Orphanet_48918
Achromatopsia	Achromatopsia	Orphanet	49382	http://www.orpha.net/ORDO/Orphanet_49382
Dentinogenesis imperfecta	Dentinogenesis imperfecta	Orphanet	49042	http://www.orpha.net/ORDO/Orphanet_49042
Combined immunodeficiency due to CD70 deficiency	Combined immunodeficiency due to CD70 deficiency	Orphanet	538958	http://www.orpha.net/ORDO/Orphanet_538958
Congenital cataracts-facial dysmorphism-neuropathy syndrome	Congenital cataracts-facial dysmorphism-neuropathy syndrome	Orphanet	48431	http://www.orpha.net/ORDO/Orphanet_48431
Combined immunodeficiency due to ITK deficiency	Combined immunodeficiency due to ITK deficiency	Orphanet	538963	http://www.orpha.net/ORDO/Orphanet_538963
Lissencephaly	Lissencephaly	Orphanet	48471	http://www.orpha.net/ORDO/Orphanet_48471
Postinfectious vasculitis	Postinfectious vasculitis	Orphanet	48435	http://www.orpha.net/ORDO/Orphanet_48435
Primary effusion lymphoma	Primary effusion lymphoma	Orphanet	48686	http://www.orpha.net/ORDO/Orphanet_48686
Monosomy 22q13.3	Monosomy 22q13.3	Orphanet	48652	http://www.orpha.net/ORDO/Orphanet_48652
Talo-patello-scaphoid osteolysis	Talo-patello-scaphoid osteolysis	Orphanet	50809	http://www.orpha.net/ORDO/Orphanet_50809
Microlissencephaly-micromelia syndrome	Microlissencephaly-micromelia syndrome	Orphanet	50810	http://www.orpha.net/ORDO/Orphanet_50810
Lipodystrophy-intellectual disability-deafness syndrome	Lipodystrophy-intellectual disability-deafness syndrome	Orphanet	50811	http://www.orpha.net/ORDO/Orphanet_50811
Zellweger-like syndrome without peroxisomal anomalies	Zellweger-like syndrome without peroxisomal anomalies	Orphanet	50812	http://www.orpha.net/ORDO/Orphanet_50812
Craniolenticulosutural dysplasia	Craniolenticulosutural dysplasia	Orphanet	50814	http://www.orpha.net/ORDO/Orphanet_50814
Branchiogenic deafness syndrome	Branchiogenic deafness syndrome	Orphanet	50815	http://www.orpha.net/ORDO/Orphanet_50815
Spondylometaphyseal dysplasia with combined immunodeficiency	Spondylometaphyseal dysplasia with combined immunodeficiency	Orphanet	50816	http://www.orpha.net/ORDO/Orphanet_50816
Acquired purpura fulminans	Acquired purpura fulminans	Orphanet	49566	http://www.orpha.net/ORDO/Orphanet_49566
Lichen amyloidosis	Lichen amyloidosis	Orphanet	49804	http://www.orpha.net/ORDO/Orphanet_49804
Thiamine-responsive megaloblastic anemia syndrome	Thiamine-responsive megaloblastic anemia syndrome	Orphanet	49827	http://www.orpha.net/ORDO/Orphanet_49827
Pleural mesothelioma	Pleural mesothelioma	Orphanet	50251	http://www.orpha.net/ORDO/Orphanet_50251
Blomstrand lethal chondrodysplasia	Blomstrand lethal chondrodysplasia	Orphanet	50945	http://www.orpha.net/ORDO/Orphanet_50945
Schöpf-Schulz-Passarge syndrome	Schöpf-Schulz-Passarge syndrome	Orphanet	50944	http://www.orpha.net/ORDO/Orphanet_50944
Torsade-de-pointes syndrome with short coupling interval	Torsade-de-pointes syndrome with short coupling interval	Orphanet	51084	http://www.orpha.net/ORDO/Orphanet_51084
Familial short QT syndrome	Familial short QT syndrome	Orphanet	51083	http://www.orpha.net/ORDO/Orphanet_51083
Cat-scratch disease	Cat-scratch disease	Orphanet	50839	http://www.orpha.net/ORDO/Orphanet_50839
NON RARE IN EUROPE: Carpal tunnel syndrome	NON RARE IN EUROPE: Carpal tunnel syndrome	Orphanet	50838	http://www.orpha.net/ORDO/Orphanet_50838
Duane anomaly-myopathy-scoliosis syndrome	Duane anomaly-myopathy-scoliosis syndrome	Orphanet	50817	http://www.orpha.net/ORDO/Orphanet_50817
Keratolytic winter erythema	Keratolytic winter erythema	Orphanet	50943	http://www.orpha.net/ORDO/Orphanet_50943
Striate palmoplantar keratoderma	Striate palmoplantar keratoderma	Orphanet	50942	http://www.orpha.net/ORDO/Orphanet_50942
Kikuchi-Fujimoto disease	Kikuchi-Fujimoto disease	Orphanet	50918	http://www.orpha.net/ORDO/Orphanet_50918
Craniosynostosis-intracranial calcifications syndrome	Craniosynostosis-intracranial calcifications syndrome	Orphanet	52054	http://www.orpha.net/ORDO/Orphanet_52054
Potocki-Shaffer syndrome	Potocki-Shaffer syndrome	Orphanet	52022	http://www.orpha.net/ORDO/Orphanet_52022
Braddock syndrome	Braddock syndrome	Orphanet	52047	http://www.orpha.net/ORDO/Orphanet_52047
Cobblestone lissencephaly	Cobblestone lissencephaly	Orphanet	51577	http://www.orpha.net/ORDO/Orphanet_51577
Generalized arterial calcification of infancy	Generalized arterial calcification of infancy	Orphanet	51608	http://www.orpha.net/ORDO/Orphanet_51608
Ethylmalonic encephalopathy	Ethylmalonic encephalopathy	Orphanet	51188	http://www.orpha.net/ORDO/Orphanet_51188
Growth delay-intellectual disability-hepatopathy syndrome	Growth delay-intellectual disability-hepatopathy syndrome	Orphanet	541423	http://www.orpha.net/ORDO/Orphanet_541423
Formiminoglutamic aciduria	Formiminoglutamic aciduria	Orphanet	51208	http://www.orpha.net/ORDO/Orphanet_51208
Anomalous origin of coronary artery from the pulmonary artery	Anomalous origin of coronary artery from the pulmonary artery	Orphanet	541507	http://www.orpha.net/ORDO/Orphanet_541507
Anomalous aortic origin of coronary artery	Anomalous aortic origin of coronary artery	Orphanet	541478	http://www.orpha.net/ORDO/Orphanet_541478
WHIM syndrome	WHIM syndrome	Orphanet	51636	http://www.orpha.net/ORDO/Orphanet_51636
Anomalous aortic origin of the right coronary artery	Anomalous aortic origin of the right coronary artery	Orphanet	541454	http://www.orpha.net/ORDO/Orphanet_541454
Anterior cutaneous nerve entrapment syndrome	Anterior cutaneous nerve entrapment syndrome	Orphanet	51890	http://www.orpha.net/ORDO/Orphanet_51890
Anomalous aortic origin of the left coronary artery	Anomalous aortic origin of the left coronary artery	Orphanet	541443	http://www.orpha.net/ORDO/Orphanet_541443
GNB5-related intellectual disability-cardiac arrhythmia syndrome	GNB5-related intellectual disability-cardiac arrhythmia syndrome	Orphanet	542306	http://www.orpha.net/ORDO/Orphanet_542306
Severe combined immunodeficiency due to CARMIL2 deficiency	Severe combined immunodeficiency due to CARMIL2 deficiency	Orphanet	542301	http://www.orpha.net/ORDO/Orphanet_542301
Leukoencephalopathy with calcifications and cysts	Leukoencephalopathy with calcifications and cysts	Orphanet	542310	http://www.orpha.net/ORDO/Orphanet_542310
Vascular anomaly or angioma	Vascular anomaly or angioma	Orphanet	68419	http://www.orpha.net/ORDO/Orphanet_68419
PFAPA syndrome	PFAPA syndrome	Orphanet	42642	http://www.orpha.net/ORDO/Orphanet_42642
Tietz syndrome	Tietz syndrome	Orphanet	42665	http://www.orpha.net/ORDO/Orphanet_42665
CAR T cell therapy-associated cytokine release syndrome	CAR T cell therapy-associated cytokine release syndrome	Orphanet	542323	http://www.orpha.net/ORDO/Orphanet_542323
Acute tricyclic antidepressant poisoning	Acute tricyclic antidepressant poisoning	Orphanet	43117	http://www.orpha.net/ORDO/Orphanet_43117
Auditory neuropathy-optic atrophy syndrome	Auditory neuropathy-optic atrophy syndrome	Orphanet	542585	http://www.orpha.net/ORDO/Orphanet_542585
Serotonin syndrome	Serotonin syndrome	Orphanet	43116	http://www.orpha.net/ORDO/Orphanet_43116
Necrobiosis lipoidica	Necrobiosis lipoidica	Orphanet	542592	http://www.orpha.net/ORDO/Orphanet_542592
Lambert-Eaton myasthenic syndrome	Lambert-Eaton myasthenic syndrome	Orphanet	43393	http://www.orpha.net/ORDO/Orphanet_43393
Acute poisoning by drugs with membrane-stabilizing effect	Acute poisoning by drugs with membrane-stabilizing effect	Orphanet	43119	http://www.orpha.net/ORDO/Orphanet_43119
Livedoid vasculopathy	Livedoid vasculopathy	Orphanet	542643	http://www.orpha.net/ORDO/Orphanet_542643
PHACE syndrome	PHACE syndrome	Orphanet	42775	http://www.orpha.net/ORDO/Orphanet_42775
Severe congenital neutropenia	Severe congenital neutropenia	Orphanet	42738	http://www.orpha.net/ORDO/Orphanet_42738
Hereditary myopathy with lactic acidosis due to ISCU deficiency	Hereditary myopathy with lactic acidosis due to ISCU deficiency	Orphanet	43115	http://www.orpha.net/ORDO/Orphanet_43115
Quadricuspid aortic valve	Quadricuspid aortic valve	Orphanet	542568	http://www.orpha.net/ORDO/Orphanet_542568
Miyoshi myopathy	Miyoshi myopathy	Orphanet	45448	http://www.orpha.net/ORDO/Orphanet_45448
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	Orphanet	543470	http://www.orpha.net/ORDO/Orphanet_543470
Incessant infant ventricular tachycardia	Incessant infant ventricular tachycardia	Orphanet	45453	http://www.orpha.net/ORDO/Orphanet_45453
Idiopathic neonatal atrial flutter	Idiopathic neonatal atrial flutter	Orphanet	45452	http://www.orpha.net/ORDO/Orphanet_45452
Isolated hyperchlorhidrosis	Isolated hyperchlorhidrosis	Orphanet	542657	http://www.orpha.net/ORDO/Orphanet_542657
Anomaly of the coronary ostia	Anomaly of the coronary ostia	Orphanet	542822	http://www.orpha.net/ORDO/Orphanet_542822
Gastrointestinal stromal tumor	Gastrointestinal stromal tumor	Orphanet	44890	http://www.orpha.net/ORDO/Orphanet_44890
NON RARE IN EUROPE: Menière disease	NON RARE IN EUROPE: Menière disease	Orphanet	45360	http://www.orpha.net/ORDO/Orphanet_45360
Congenital fibrosis of extraocular muscles	Congenital fibrosis of extraocular muscles	Orphanet	45358	http://www.orpha.net/ORDO/Orphanet_45358
Epidermolysis bullosa acquisita	Epidermolysis bullosa acquisita	Orphanet	46487	http://www.orpha.net/ORDO/Orphanet_46487
SYNGAP1-related developmental and epileptic encephalopathy	SYNGAP1-related developmental and epileptic encephalopathy	Orphanet	544254	http://www.orpha.net/ORDO/Orphanet_544254
Linear IgA dermatosis	Linear IgA dermatosis	Orphanet	46488	http://www.orpha.net/ORDO/Orphanet_46488
Superficial pemphigus	Superficial pemphigus	Orphanet	46485	http://www.orpha.net/ORDO/Orphanet_46485
Mucous membrane pemphigoid	Mucous membrane pemphigoid	Orphanet	46486	http://www.orpha.net/ORDO/Orphanet_46486
Paroxysmal extreme pain disorder	Paroxysmal extreme pain disorder	Orphanet	46348	http://www.orpha.net/ORDO/Orphanet_46348
Oligodendroglial tumor	Oligodendroglial tumor	Orphanet	46484	http://www.orpha.net/ORDO/Orphanet_46484
Lathosterolosis	Lathosterolosis	Orphanet	46059	http://www.orpha.net/ORDO/Orphanet_46059
Primary central nervous system lymphoma	Primary central nervous system lymphoma	Orphanet	46135	http://www.orpha.net/ORDO/Orphanet_46135
Hemolytic uremic syndrome	Hemolytic uremic syndrome	Orphanet	544458	http://www.orpha.net/ORDO/Orphanet_544458
Hereditary papillary renal cell carcinoma	Hereditary papillary renal cell carcinoma	Orphanet	47044	http://www.orpha.net/ORDO/Orphanet_47044
Cerebral arteriovenous malformation	Cerebral arteriovenous malformation	Orphanet	46724	http://www.orpha.net/ORDO/Orphanet_46724
Char syndrome	Char syndrome	Orphanet	46627	http://www.orpha.net/ORDO/Orphanet_46627
Primordial short stature-microdontia-opalescent and rootless teeth syndrome	Primordial short stature-microdontia-opalescent and rootless teeth syndrome	Orphanet	46658	http://www.orpha.net/ORDO/Orphanet_46658
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	Orphanet	46532	http://www.orpha.net/ORDO/Orphanet_46532
Nodular regenerative hyperplasia of the liver	Nodular regenerative hyperplasia of the liver	Orphanet	48372	http://www.orpha.net/ORDO/Orphanet_48372
Lewis-Sumner syndrome	Lewis-Sumner syndrome	Orphanet	48162	http://www.orpha.net/ORDO/Orphanet_48162
Streptococcus pneumoniae-associated hemolytic uremic syndrome	Streptococcus pneumoniae-associated hemolytic uremic syndrome	Orphanet	544493	http://www.orpha.net/ORDO/Orphanet_544493
Pyoderma gangrenosum	Pyoderma gangrenosum	Orphanet	48104	http://www.orpha.net/ORDO/Orphanet_48104
RNF13-related severe early-onset epileptic encephalopathy	RNF13-related severe early-onset epileptic encephalopathy	Orphanet	544503	http://www.orpha.net/ORDO/Orphanet_544503
Felty syndrome	Felty syndrome	Orphanet	47612	http://www.orpha.net/ORDO/Orphanet_47612
Infection-related hemolytic uremic syndrome	Infection-related hemolytic uremic syndrome	Orphanet	544482	http://www.orpha.net/ORDO/Orphanet_544482
Proximal renal tubular acidosis	Proximal renal tubular acidosis	Orphanet	47159	http://www.orpha.net/ORDO/Orphanet_47159
Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	Orphanet	544488	http://www.orpha.net/ORDO/Orphanet_544488
PRUNE1-related neurological syndrome	PRUNE1-related neurological syndrome	Orphanet	544469	http://www.orpha.net/ORDO/Orphanet_544469
Atypical hemolytic uremic syndrome with complement gene abnormality	Atypical hemolytic uremic syndrome with complement gene abnormality	Orphanet	544472	http://www.orpha.net/ORDO/Orphanet_544472
Familial cold urticaria	Familial cold urticaria	Orphanet	47045	http://www.orpha.net/ORDO/Orphanet_47045
Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome	Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome	Orphanet	544628	http://www.orpha.net/ORDO/Orphanet_544628
Collagen-related glomerular basement membrane disease	Collagen-related glomerular basement membrane disease	Orphanet	544590	http://www.orpha.net/ORDO/Orphanet_544590
Congenital myopathy with reduced type 2 muscle fibers	Congenital myopathy with reduced type 2 muscle fibers	Orphanet	544602	http://www.orpha.net/ORDO/Orphanet_544602
Subcorneal pustular dermatosis	Subcorneal pustular dermatosis	Orphanet	48377	http://www.orpha.net/ORDO/Orphanet_48377
Congenital primary megaureter, refluxing and obstructed form	Congenital primary megaureter, refluxing and obstructed form	Orphanet	544578	http://www.orpha.net/ORDO/Orphanet_544578
Rare deafness	Rare deafness	Orphanet	68361	http://www.orpha.net/ORDO/Orphanet_68361
Rare vascular disease	Rare vascular disease	Orphanet	68362	http://www.orpha.net/ORDO/Orphanet_68362
Rare dystonia	Rare dystonia	Orphanet	68363	http://www.orpha.net/ORDO/Orphanet_68363
NAD(P)HX dehydratase deficiency	NAD(P)HX dehydratase deficiency	Orphanet	555402	http://www.orpha.net/ORDO/Orphanet_555402
Hemoglobinopathy	Hemoglobinopathy	Orphanet	68364	http://www.orpha.net/ORDO/Orphanet_68364
Fibrohistiocytic inflammatory pseudotumor of the liver	Fibrohistiocytic inflammatory pseudotumor of the liver	Orphanet	555434	http://www.orpha.net/ORDO/Orphanet_555434
NAD(P)HX epimerase deficiency	NAD(P)HX epimerase deficiency	Orphanet	555407	http://www.orpha.net/ORDO/Orphanet_555407
Lysosomal disease	Lysosomal disease	Orphanet	68366	http://www.orpha.net/ORDO/Orphanet_68366
Rare inborn errors of metabolism	Rare inborn errors of metabolism	Orphanet	68367	http://www.orpha.net/ORDO/Orphanet_68367
Lymphoplasmacytic inflammatory pseudotumor of the liver	Lymphoplasmacytic inflammatory pseudotumor of the liver	Orphanet	555437	http://www.orpha.net/ORDO/Orphanet_555437
Peroxisomal disease	Peroxisomal disease	Orphanet	68373	http://www.orpha.net/ORDO/Orphanet_68373
Congenital tricuspid valve dysplasia	Congenital tricuspid valve dysplasia	Orphanet	555874	http://www.orpha.net/ORDO/Orphanet_555874
Congenital limb malformation	Congenital limb malformation	Orphanet	68378	http://www.orpha.net/ORDO/Orphanet_68378
FLNA-related X-linked myxomatous valvular dysplasia	FLNA-related X-linked myxomatous valvular dysplasia	Orphanet	555877	http://www.orpha.net/ORDO/Orphanet_555877
Neuromuscular disease	Neuromuscular disease	Orphanet	68381	http://www.orpha.net/ORDO/Orphanet_68381
IgA pemphigus	IgA pemphigus	Orphanet	555905	http://www.orpha.net/ORDO/Orphanet_555905
Mitochondrial disease	Mitochondrial disease	Orphanet	68380	http://www.orpha.net/ORDO/Orphanet_68380
Rare constitutional aplastic anemia	Rare constitutional aplastic anemia	Orphanet	68383	http://www.orpha.net/ORDO/Orphanet_68383
Early-onset familial hypoaldosteronism	Early-onset familial hypoaldosteronism	Orphanet	556030	http://www.orpha.net/ORDO/Orphanet_556030
Neurometabolic disease	Neurometabolic disease	Orphanet	68385	http://www.orpha.net/ORDO/Orphanet_68385
Late-onset familial hypoaldosteronism	Late-onset familial hypoaldosteronism	Orphanet	556037	http://www.orpha.net/ORDO/Orphanet_556037
Early-onset calcifying leukoencephalopathy-skeletal dysplasia	Early-onset calcifying leukoencephalopathy-skeletal dysplasia	Orphanet	556985	http://www.orpha.net/ORDO/Orphanet_556985
Pancreatic agenesis-holoprosencephaly syndrome	Pancreatic agenesis-holoprosencephaly syndrome	Orphanet	556955	http://www.orpha.net/ORDO/Orphanet_556955
Rare disorder due to poisoning	Rare disorder due to poisoning	Orphanet	556508	http://www.orpha.net/ORDO/Orphanet_556508
Rare parkinsonian disorder	Rare parkinsonian disorder	Orphanet	68402	http://www.orpha.net/ORDO/Orphanet_68402
Neonatal epileptic encephalopathy due to glutaminase deficiency	Neonatal epileptic encephalopathy due to glutaminase deficiency	Orphanet	557064	http://www.orpha.net/ORDO/Orphanet_557064
Spastic ataxia-dysarthria due to glutaminase deficiency	Spastic ataxia-dysarthria due to glutaminase deficiency	Orphanet	557056	http://www.orpha.net/ORDO/Orphanet_557056
Oculocerebrodental syndrome	Oculocerebrodental syndrome	Orphanet	557003	http://www.orpha.net/ORDO/Orphanet_557003
Rare bone tumor	Rare bone tumor	Orphanet	68411	http://www.orpha.net/ORDO/Orphanet_68411
Rare infectious disease	Rare infectious disease	Orphanet	68416	http://www.orpha.net/ORDO/Orphanet_68416
Rare parathyroid disease and phosphocalcic metabolism anomaly	Rare parathyroid disease and phosphocalcic metabolism anomaly	Orphanet	68415	http://www.orpha.net/ORDO/Orphanet_68415
Acquired aneurysmal subarachnoid hemorrhage	Acquired aneurysmal subarachnoid hemorrhage	Orphanet	90065	http://www.orpha.net/ORDO/Orphanet_90065
Isolated iridoschisis	Isolated iridoschisis	Orphanet	519392	http://www.orpha.net/ORDO/Orphanet_519392
Pneumonia caused by Pseudomonas aeruginosa infection	Pneumonia caused by Pseudomonas aeruginosa infection	Orphanet	90066	http://www.orpha.net/ORDO/Orphanet_90066
Isolated blepharochalasis	Isolated blepharochalasis	Orphanet	519390	http://www.orpha.net/ORDO/Orphanet_519390
Isolated microspherophakia	Isolated microspherophakia	Orphanet	519396	http://www.orpha.net/ORDO/Orphanet_519396
Cocaine intoxication	Cocaine intoxication	Orphanet	90068	http://www.orpha.net/ORDO/Orphanet_90068
Non-infectious posterior uveitis	Non-infectious posterior uveitis	Orphanet	90061	http://www.orpha.net/ORDO/Orphanet_90061
Congenital cystic eye	Congenital cystic eye	Orphanet	519384	http://www.orpha.net/ORDO/Orphanet_519384
Acute liver failure	Acute liver failure	Orphanet	90062	http://www.orpha.net/ORDO/Orphanet_90062
Autosomal recessive anterior segment dysgenesis	Autosomal recessive anterior segment dysgenesis	Orphanet	519388	http://www.orpha.net/ORDO/Orphanet_519388
Acute peripheral arterial occlusion	Acute peripheral arterial occlusion	Orphanet	90064	http://www.orpha.net/ORDO/Orphanet_90064
Isolated congenital entropion	Isolated congenital entropion	Orphanet	519386	http://www.orpha.net/ORDO/Orphanet_519386
Hepatitis B reinfection following liver transplantation	Hepatitis B reinfection following liver transplantation	Orphanet	90073	http://www.orpha.net/ORDO/Orphanet_90073
Mooren ulcer	Mooren ulcer	Orphanet	519408	http://www.orpha.net/ORDO/Orphanet_519408
Thygeson superficial punctate keratitis	Thygeson superficial punctate keratitis	Orphanet	519406	http://www.orpha.net/ORDO/Orphanet_519406
Terrien marginal degeneration	Terrien marginal degeneration	Orphanet	519410	http://www.orpha.net/ORDO/Orphanet_519410
Partial deep dermal and full thickness burns	Partial deep dermal and full thickness burns	Orphanet	90076	http://www.orpha.net/ORDO/Orphanet_90076
Systemic monochloroacetate poisoning	Systemic monochloroacetate poisoning	Orphanet	90069	http://www.orpha.net/ORDO/Orphanet_90069
Peripapillary staphyloma	Peripapillary staphyloma	Orphanet	519400	http://www.orpha.net/ORDO/Orphanet_519400
Isolated foveal hypoplasia	Isolated foveal hypoplasia	Orphanet	519398	http://www.orpha.net/ORDO/Orphanet_519398
Optic disc pit	Optic disc pit	Orphanet	519404	http://www.orpha.net/ORDO/Orphanet_519404
Isolated megalopapilla	Isolated megalopapilla	Orphanet	519402	http://www.orpha.net/ORDO/Orphanet_519402
Retinopathy of prematurity	Retinopathy of prematurity	Orphanet	90050	http://www.orpha.net/ORDO/Orphanet_90050
Congenital optic disc excavation	Congenital optic disc excavation	Orphanet	519333	http://www.orpha.net/ORDO/Orphanet_519333
Hereditary folate malabsorption	Hereditary folate malabsorption	Orphanet	90045	http://www.orpha.net/ORDO/Orphanet_90045
Recurrent hepatitis C virus induced liver disease in liver transplant recipients	Recurrent hepatitis C virus induced liver disease in liver transplant recipients	Orphanet	90052	http://www.orpha.net/ORDO/Orphanet_90052
Disorder with optic nerve compression	Disorder with optic nerve compression	Orphanet	519337	http://www.orpha.net/ORDO/Orphanet_519337
Sepsis in premature infants	Sepsis in premature infants	Orphanet	90051	http://www.orpha.net/ORDO/Orphanet_90051
Pseudopapilledema	Pseudopapilledema	Orphanet	519339	http://www.orpha.net/ORDO/Orphanet_519339
Syndromic inherited retinal disorder	Syndromic inherited retinal disorder	Orphanet	519325	http://www.orpha.net/ORDO/Orphanet_519325
Gaisböck syndrome	Gaisböck syndrome	Orphanet	90041	http://www.orpha.net/ORDO/Orphanet_90041
Syndromic vitreoretinopathy	Syndromic vitreoretinopathy	Orphanet	519327	http://www.orpha.net/ORDO/Orphanet_519327
Hemoglobin D disease	Hemoglobin D disease	Orphanet	90039	http://www.orpha.net/ORDO/Orphanet_90039
Rare disorder involving multiple structures of the eye	Rare disorder involving multiple structures of the eye	Orphanet	519329	http://www.orpha.net/ORDO/Orphanet_519329
Familial pseudohyperkalemia	Familial pseudohyperkalemia	Orphanet	90044	http://www.orpha.net/ORDO/Orphanet_90044
Secondary early-onset glaucoma	Secondary early-onset glaucoma	Orphanet	519331	http://www.orpha.net/ORDO/Orphanet_519331
Primary familial polycythemia	Primary familial polycythemia	Orphanet	90042	http://www.orpha.net/ORDO/Orphanet_90042
Spinal cord injury	Spinal cord injury	Orphanet	90058	http://www.orpha.net/ORDO/Orphanet_90058
Rare ophthalmic disorder with cranial nerve involvement	Rare ophthalmic disorder with cranial nerve involvement	Orphanet	519349	http://www.orpha.net/ORDO/Orphanet_519349
Rare optic nerve disorder	Rare optic nerve disorder	Orphanet	519351	http://www.orpha.net/ORDO/Orphanet_519351
Rare trochlear nerve disorder	Rare trochlear nerve disorder	Orphanet	519353	http://www.orpha.net/ORDO/Orphanet_519353
Diffuse alveolar hemorrhage	Diffuse alveolar hemorrhage	Orphanet	90060	http://www.orpha.net/ORDO/Orphanet_90060
Rare ocular motility/alignment disorder	Rare ocular motility/alignment disorder	Orphanet	519355	http://www.orpha.net/ORDO/Orphanet_519355
Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma	Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma	Orphanet	90059	http://www.orpha.net/ORDO/Orphanet_90059
Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature	Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature	Orphanet	519341	http://www.orpha.net/ORDO/Orphanet_519341
Rare ophthalmic disorder with cortical involvement	Rare ophthalmic disorder with cortical involvement	Orphanet	519343	http://www.orpha.net/ORDO/Orphanet_519343
Complications after hematopoietic stem cell transplantation	Complications after hematopoietic stem cell transplantation	Orphanet	90053	http://www.orpha.net/ORDO/Orphanet_90053
Rare disorder with optic disc malformation	Rare disorder with optic disc malformation	Orphanet	519345	http://www.orpha.net/ORDO/Orphanet_519345
Moderate and severe traumatic brain injury	Moderate and severe traumatic brain injury	Orphanet	90056	http://www.orpha.net/ORDO/Orphanet_90056
Rare neuromuscular disorder with ocular motility/alignment anomaly	Rare neuromuscular disorder with ocular motility/alignment anomaly	Orphanet	519347	http://www.orpha.net/ORDO/Orphanet_519347
Deafness with labyrinthine aplasia, microtia, and microdontia	Deafness with labyrinthine aplasia, microtia, and microdontia	Orphanet	90024	http://www.orpha.net/ORDO/Orphanet_90024
Isolated progressive inherited retinal disorder	Isolated progressive inherited retinal disorder	Orphanet	519306	http://www.orpha.net/ORDO/Orphanet_519306
Non-syndromic syndactyly	Non-syndromic syndactyly	Orphanet	90025	http://www.orpha.net/ORDO/Orphanet_90025
Isolated vitreoretinopathy	Isolated vitreoretinopathy	Orphanet	519304	http://www.orpha.net/ORDO/Orphanet_519304
Isolated macular dystrophy	Isolated macular dystrophy	Orphanet	519302	http://www.orpha.net/ORDO/Orphanet_519302
Primary immunodeficiency syndrome due to LAMTOR2 deficiency	Primary immunodeficiency syndrome due to LAMTOR2 deficiency	Orphanet	90023	http://www.orpha.net/ORDO/Orphanet_90023
Isolated chorioretinal dystrophy	Isolated chorioretinal dystrophy	Orphanet	519300	http://www.orpha.net/ORDO/Orphanet_519300
Rare scleral disorder	Rare scleral disorder	Orphanet	519298	http://www.orpha.net/ORDO/Orphanet_519298
Amyotrophic lateral sclerosis-parkinsonism-dementia complex	Amyotrophic lateral sclerosis-parkinsonism-dementia complex	Orphanet	90020	http://www.orpha.net/ORDO/Orphanet_90020
Rare disorder with pigmented sclera	Rare disorder with pigmented sclera	Orphanet	519296	http://www.orpha.net/ORDO/Orphanet_519296
Radiation myelitis	Radiation myelitis	Orphanet	90021	http://www.orpha.net/ORDO/Orphanet_90021
Undifferentiated connective tissue syndrome	Undifferentiated connective tissue syndrome	Orphanet	90002	http://www.orpha.net/ORDO/Orphanet_90002
Syndromic microspherophakia	Syndromic microspherophakia	Orphanet	519294	http://www.orpha.net/ORDO/Orphanet_519294
Syndromic ectopia lentis	Syndromic ectopia lentis	Orphanet	519292	http://www.orpha.net/ORDO/Orphanet_519292
Inflammatory pseudotumor of the liver	Inflammatory pseudotumor of the liver	Orphanet	90003	http://www.orpha.net/ORDO/Orphanet_90003
Syndromic macular dystrophy	Syndromic macular dystrophy	Orphanet	519323	http://www.orpha.net/ORDO/Orphanet_519323
Drug-induced autoimmune hemolytic anemia	Drug-induced autoimmune hemolytic anemia	Orphanet	90037	http://www.orpha.net/ORDO/Orphanet_90037
Syndromic chorioretinal dystrophy	Syndromic chorioretinal dystrophy	Orphanet	519321	http://www.orpha.net/ORDO/Orphanet_519321
Shiga toxin-associated hemolytic uremic syndrome	Shiga toxin-associated hemolytic uremic syndrome	Orphanet	90038	http://www.orpha.net/ORDO/Orphanet_90038
Paroxysmal cold hemoglobinuria	Paroxysmal cold hemoglobinuria	Orphanet	90035	http://www.orpha.net/ORDO/Orphanet_90035
Isolated stationary inherited retinal disorder	Isolated stationary inherited retinal disorder	Orphanet	519319	http://www.orpha.net/ORDO/Orphanet_519319
Rare retinal vasculopathy	Rare retinal vasculopathy	Orphanet	519317	http://www.orpha.net/ORDO/Orphanet_519317
Mixed-type autoimmune hemolytic anemia	Mixed-type autoimmune hemolytic anemia	Orphanet	90036	http://www.orpha.net/ORDO/Orphanet_90036
Rare retinal disorder	Rare retinal disorder	Orphanet	519315	http://www.orpha.net/ORDO/Orphanet_519315
Non-spherocytic hemolytic anemia due to hexokinase deficiency	Non-spherocytic hemolytic anemia due to hexokinase deficiency	Orphanet	90031	http://www.orpha.net/ORDO/Orphanet_90031
Rare macular disorder	Rare macular disorder	Orphanet	519313	http://www.orpha.net/ORDO/Orphanet_519313
Autoimmune hemolytic anemia, warm type	Autoimmune hemolytic anemia, warm type	Orphanet	90033	http://www.orpha.net/ORDO/Orphanet_90033
Rare disorder of the posterior segment of the eye	Rare disorder of the posterior segment of the eye	Orphanet	519311	http://www.orpha.net/ORDO/Orphanet_519311
Primary erythromelalgia	Primary erythromelalgia	Orphanet	90026	http://www.orpha.net/ORDO/Orphanet_90026
Rare choroidal disorder	Rare choroidal disorder	Orphanet	519309	http://www.orpha.net/ORDO/Orphanet_519309
Hemolytic anemia due to glutathione reductase deficiency	Hemolytic anemia due to glutathione reductase deficiency	Orphanet	90030	http://www.orpha.net/ORDO/Orphanet_90030
X-linked hypophosphatemia	X-linked hypophosphatemia	Orphanet	89936	http://www.orpha.net/ORDO/Orphanet_89936
Structural developmental eye defect	Structural developmental eye defect	Orphanet	519272	http://www.orpha.net/ORDO/Orphanet_519272
Syndromic lacrimal system disorder	Syndromic lacrimal system disorder	Orphanet	519274	http://www.orpha.net/ORDO/Orphanet_519274
Rare disorder with ectropion	Rare disorder with ectropion	Orphanet	519268	http://www.orpha.net/ORDO/Orphanet_519268
Lissencephaly syndrome, Norman-Roberts type	Lissencephaly syndrome, Norman-Roberts type	Orphanet	89844	http://www.orpha.net/ORDO/Orphanet_89844
Rare disorder with entropion	Rare disorder with entropion	Orphanet	519270	http://www.orpha.net/ORDO/Orphanet_519270
Dystrophic epidermolysis bullosa pruriginosa	Dystrophic epidermolysis bullosa pruriginosa	Orphanet	89843	http://www.orpha.net/ORDO/Orphanet_89843
Recessive dystrophic epidermolysis bullosa, generalized intermediate	Recessive dystrophic epidermolysis bullosa, generalized intermediate	Orphanet	89842	http://www.orpha.net/ORDO/Orphanet_89842
Inflammatory/autoimmune disorder involving the lacrimal system	Inflammatory/autoimmune disorder involving the lacrimal system	Orphanet	519264	http://www.orpha.net/ORDO/Orphanet_519264
Rare disorder of the ocular adnexa	Rare disorder of the ocular adnexa	Orphanet	519266	http://www.orpha.net/ORDO/Orphanet_519266
Centripetalis recessive dystrophic epidermolysis bullosa	Centripetalis recessive dystrophic epidermolysis bullosa	Orphanet	89841	http://www.orpha.net/ORDO/Orphanet_89841
Junctional epidermolysis bullosa, non-Herlitz type	Junctional epidermolysis bullosa, non-Herlitz type	Orphanet	89840	http://www.orpha.net/ORDO/Orphanet_89840
Epidermolysis bullosa simplex superficialis	Epidermolysis bullosa simplex superficialis	Orphanet	89839	http://www.orpha.net/ORDO/Orphanet_89839
X-linked cone dysfunction syndrome with myopia	X-linked cone dysfunction syndrome with myopia	Orphanet	90001	http://www.orpha.net/ORDO/Orphanet_90001
Rare disorder with corneal involvement as a major feature	Rare disorder with corneal involvement as a major feature	Orphanet	519288	http://www.orpha.net/ORDO/Orphanet_519288
Rare inflammatory/autoimmune corneal disorder	Rare inflammatory/autoimmune corneal disorder	Orphanet	519290	http://www.orpha.net/ORDO/Orphanet_519290
Erythema elevatum diutinum	Erythema elevatum diutinum	Orphanet	90000	http://www.orpha.net/ORDO/Orphanet_90000
Rare disorder of the anterior segment of the eye	Rare disorder of the anterior segment of the eye	Orphanet	519284	http://www.orpha.net/ORDO/Orphanet_519284
Rare disorder of the pupil	Rare disorder of the pupil	Orphanet	519286	http://www.orpha.net/ORDO/Orphanet_519286
Rare conjunctivitis	Rare conjunctivitis	Orphanet	519280	http://www.orpha.net/ORDO/Orphanet_519280
Rare corneal disorder	Rare corneal disorder	Orphanet	519282	http://www.orpha.net/ORDO/Orphanet_519282
NON RARE IN EUROPE: Hyperkalemic renal tubular acidosis	NON RARE IN EUROPE: Hyperkalemic renal tubular acidosis	Orphanet	89939	http://www.orpha.net/ORDO/Orphanet_89939
Anterior segment developmental abnormality with extraocular manifestations	Anterior segment developmental abnormality with extraocular manifestations	Orphanet	519276	http://www.orpha.net/ORDO/Orphanet_519276
Infantile Bartter syndrome with sensorineural deafness	Infantile Bartter syndrome with sensorineural deafness	Orphanet	89938	http://www.orpha.net/ORDO/Orphanet_89938
Autosomal dominant hypophosphatemic rickets	Autosomal dominant hypophosphatemic rickets	Orphanet	89937	http://www.orpha.net/ORDO/Orphanet_89937
Infective keratitis	Infective keratitis	Orphanet	519278	http://www.orpha.net/ORDO/Orphanet_519278
Margarita island ectodermal dysplasia	Margarita island ectodermal dysplasia	Orphanet	90338	http://www.orpha.net/ORDO/Orphanet_90338
Blau syndrome	Blau syndrome	Orphanet	90340	http://www.orpha.net/ORDO/Orphanet_90340
Early-onset sarcoidosis	Early-onset sarcoidosis	Orphanet	90341	http://www.orpha.net/ORDO/Orphanet_90341
Xeroderma pigmentosum variant	Xeroderma pigmentosum variant	Orphanet	90342	http://www.orpha.net/ORDO/Orphanet_90342
Autosomal dominant cutis laxa	Autosomal dominant cutis laxa	Orphanet	90348	http://www.orpha.net/ORDO/Orphanet_90348
Autosomal recessive cutis laxa type 1	Autosomal recessive cutis laxa type 1	Orphanet	90349	http://www.orpha.net/ORDO/Orphanet_90349
Autosomal recessive cutis laxa type 2	Autosomal recessive cutis laxa type 2	Orphanet	90350	http://www.orpha.net/ORDO/Orphanet_90350
Brittle cornea syndrome	Brittle cornea syndrome	Orphanet	90354	http://www.orpha.net/ORDO/Orphanet_90354
Primary intestinal lymphangiectasia	Primary intestinal lymphangiectasia	Orphanet	90362	http://www.orpha.net/ORDO/Orphanet_90362
Secondary intestinal lymphangiectasia	Secondary intestinal lymphangiectasia	Orphanet	90363	http://www.orpha.net/ORDO/Orphanet_90363
CREST syndrome	CREST syndrome	Orphanet	90290	http://www.orpha.net/ORDO/Orphanet_90290
Localized scleroderma	Localized scleroderma	Orphanet	90289	http://www.orpha.net/ORDO/Orphanet_90289
Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome	Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome	Orphanet	90301	http://www.orpha.net/ORDO/Orphanet_90301
Systemic sclerosis	Systemic sclerosis	Orphanet	90291	http://www.orpha.net/ORDO/Orphanet_90291
Klippel-Trénaunay syndrome	Klippel-Trénaunay syndrome	Orphanet	90308	http://www.orpha.net/ORDO/Orphanet_90308
Parkes Weber syndrome	Parkes Weber syndrome	Orphanet	90307	http://www.orpha.net/ORDO/Orphanet_90307
Cockayne syndrome type 2	Cockayne syndrome type 2	Orphanet	90322	http://www.orpha.net/ORDO/Orphanet_90322
Cockayne syndrome type 1	Cockayne syndrome type 1	Orphanet	90321	http://www.orpha.net/ORDO/Orphanet_90321
Cockayne syndrome type 3	Cockayne syndrome type 3	Orphanet	90324	http://www.orpha.net/ORDO/Orphanet_90324
Centrifugal lipodystrophy	Centrifugal lipodystrophy	Orphanet	90156	http://www.orpha.net/ORDO/Orphanet_90156
Drug-induced localized lipodystrophy	Drug-induced localized lipodystrophy	Orphanet	90157	http://www.orpha.net/ORDO/Orphanet_90157
Mandibuloacral dysplasia with type A lipodystrophy	Mandibuloacral dysplasia with type A lipodystrophy	Orphanet	90153	http://www.orpha.net/ORDO/Orphanet_90153
Mandibuloacral dysplasia with type B lipodystrophy	Mandibuloacral dysplasia with type B lipodystrophy	Orphanet	90154	http://www.orpha.net/ORDO/Orphanet_90154
Pressure-induced localized lipoatrophy	Pressure-induced localized lipoatrophy	Orphanet	90160	http://www.orpha.net/ORDO/Orphanet_90160
Idiopathic localized lipodystrophy	Idiopathic localized lipodystrophy	Orphanet	90158	http://www.orpha.net/ORDO/Orphanet_90158
Panniculitis-induced localized lipodystrophy	Panniculitis-induced localized lipodystrophy	Orphanet	90159	http://www.orpha.net/ORDO/Orphanet_90159
Chilblain lupus	Chilblain lupus	Orphanet	90280	http://www.orpha.net/ORDO/Orphanet_90280
Discoid lupus erythematosus	Discoid lupus erythematosus	Orphanet	90281	http://www.orpha.net/ORDO/Orphanet_90281
Non-hereditary late-onset primary lymphedema	Non-hereditary late-onset primary lymphedema	Orphanet	90185	http://www.orpha.net/ORDO/Orphanet_90185
Meige disease	Meige disease	Orphanet	90186	http://www.orpha.net/ORDO/Orphanet_90186
Lupus erythematosus panniculitis	Lupus erythematosus panniculitis	Orphanet	90285	http://www.orpha.net/ORDO/Orphanet_90285
Hypertrophic or verrucous lupus erythematosus	Hypertrophic or verrucous lupus erythematosus	Orphanet	90282	http://www.orpha.net/ORDO/Orphanet_90282
Lupus erythematosus tumidus	Lupus erythematosus tumidus	Orphanet	90283	http://www.orpha.net/ORDO/Orphanet_90283
Scarring in glaucoma filtration surgical procedures	Scarring in glaucoma filtration surgical procedures	Orphanet	90080	http://www.orpha.net/ORDO/Orphanet_90080
Invasive infections due to vancomycin-resistant enterococci	Invasive infections due to vancomycin-resistant enterococci	Orphanet	90078	http://www.orpha.net/ORDO/Orphanet_90078
Other acquired skin disease	Other acquired skin disease	Orphanet	90077	http://www.orpha.net/ORDO/Orphanet_90077
Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome	Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome	Orphanet	90103	http://www.orpha.net/ORDO/Orphanet_90103
ATP13A2-related parkinsonism	ATP13A2-related parkinsonism	Orphanet	514980	http://www.orpha.net/ORDO/Orphanet_514980
AIDS wasting syndrome	AIDS wasting syndrome	Orphanet	90081	http://www.orpha.net/ORDO/Orphanet_90081
Severe early-onset axonal neuropathy due to MFN2 deficiency	Severe early-onset axonal neuropathy due to MFN2 deficiency	Orphanet	90118	http://www.orpha.net/ORDO/Orphanet_90118
Hereditary motor and sensory neuropathy, Okinawa type	Hereditary motor and sensory neuropathy, Okinawa type	Orphanet	90117	http://www.orpha.net/ORDO/Orphanet_90117
Autosomal dominant intermediate Charcot-Marie-Tooth disease	Autosomal dominant intermediate Charcot-Marie-Tooth disease	Orphanet	90114	http://www.orpha.net/ORDO/Orphanet_90114
Hereditary motor and sensory neuropathy type 6	Hereditary motor and sensory neuropathy type 6	Orphanet	90120	http://www.orpha.net/ORDO/Orphanet_90120
Hereditary motor and sensory neuropathy with acrodystrophy	Hereditary motor and sensory neuropathy with acrodystrophy	Orphanet	90119	http://www.orpha.net/ORDO/Orphanet_90119
Genetic congenital malformation of the eye with glaucoma as a major feature	Genetic congenital malformation of the eye with glaucoma as a major feature	Orphanet	525677	http://www.orpha.net/ORDO/Orphanet_525677
Pediatric-onset Graves disease	Pediatric-onset Graves disease	Orphanet	525731	http://www.orpha.net/ORDO/Orphanet_525731
Prepubertal anorexia nervosa	Prepubertal anorexia nervosa	Orphanet	525738	http://www.orpha.net/ORDO/Orphanet_525738
Rare genetic choroidal disorder	Rare genetic choroidal disorder	Orphanet	522584	http://www.orpha.net/ORDO/Orphanet_522584
Pediatric-onset glaucoma	Pediatric-onset glaucoma	Orphanet	523000	http://www.orpha.net/ORDO/Orphanet_523000
Rare genetic macular disorder	Rare genetic macular disorder	Orphanet	522574	http://www.orpha.net/ORDO/Orphanet_522574
Rare genetic retinal vasculopathy	Rare genetic retinal vasculopathy	Orphanet	522576	http://www.orpha.net/ORDO/Orphanet_522576
Hepatocellular carcinoma	Hepatocellular carcinoma	Orphanet	88673	http://www.orpha.net/ORDO/Orphanet_88673
Rare genetic disorder involving multiple structures of the eye	Rare genetic disorder involving multiple structures of the eye	Orphanet	522578	http://www.orpha.net/ORDO/Orphanet_522578
Secondary early-onset glaucoma of genetic origin	Secondary early-onset glaucoma of genetic origin	Orphanet	522580	http://www.orpha.net/ORDO/Orphanet_522580
Rare genetic disorder of the pupil	Rare genetic disorder of the pupil	Orphanet	522568	http://www.orpha.net/ORDO/Orphanet_522568
Autosomal recessive ataxia, Beauce type	Autosomal recessive ataxia, Beauce type	Orphanet	88644	http://www.orpha.net/ORDO/Orphanet_88644
Rare genetic inflammatory/autoimmune corneal disorder	Rare genetic inflammatory/autoimmune corneal disorder	Orphanet	522566	http://www.orpha.net/ORDO/Orphanet_522566
Autosomal dominant progressive nephropathy with hypertension	Autosomal dominant progressive nephropathy with hypertension	Orphanet	88659	http://www.orpha.net/ORDO/Orphanet_88659
Rare genetic retinal disorder	Rare genetic retinal disorder	Orphanet	522572	http://www.orpha.net/ORDO/Orphanet_522572
Hypertension due to gain-of-function mutations in the mineralocorticoid receptor	Hypertension due to gain-of-function mutations in the mineralocorticoid receptor	Orphanet	88660	http://www.orpha.net/ORDO/Orphanet_88660
Rare genetic disorder of the posterior segment of the eye	Rare genetic disorder of the posterior segment of the eye	Orphanet	522570	http://www.orpha.net/ORDO/Orphanet_522570
Amelogenesis imperfecta	Amelogenesis imperfecta	Orphanet	88661	http://www.orpha.net/ORDO/Orphanet_88661
Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome	Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome	Orphanet	88637	http://www.orpha.net/ORDO/Orphanet_88637
Genetic corneal dystrophy	Genetic corneal dystrophy	Orphanet	522560	http://www.orpha.net/ORDO/Orphanet_522560
Rare genetic disorder with corneal involvement as a major feature	Rare genetic disorder with corneal involvement as a major feature	Orphanet	522558	http://www.orpha.net/ORDO/Orphanet_522558
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	Orphanet	88639	http://www.orpha.net/ORDO/Orphanet_88639
Syndromic genetic keratoconus	Syndromic genetic keratoconus	Orphanet	522564	http://www.orpha.net/ORDO/Orphanet_522564
Channelopathy-associated congenital insensitivity to pain	Channelopathy-associated congenital insensitivity to pain	Orphanet	88642	http://www.orpha.net/ORDO/Orphanet_88642
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome	Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome	Orphanet	88643	http://www.orpha.net/ORDO/Orphanet_88643
Genetic superficial corneal dystrophy	Genetic superficial corneal dystrophy	Orphanet	522562	http://www.orpha.net/ORDO/Orphanet_522562
Anterior segment developmental anomaly	Anterior segment developmental anomaly	Orphanet	88632	http://www.orpha.net/ORDO/Orphanet_88632
Lens position anomaly of genetic origin	Lens position anomaly of genetic origin	Orphanet	522552	http://www.orpha.net/ORDO/Orphanet_522552
Superior limbic keratoconjunctivitis	Superior limbic keratoconjunctivitis	Orphanet	88633	http://www.orpha.net/ORDO/Orphanet_88633
Lens size anomaly of genetic origin	Lens size anomaly of genetic origin	Orphanet	522550	http://www.orpha.net/ORDO/Orphanet_522550
Vacuolar myopathy with sarcoplasmic reticulum protein aggregates	Vacuolar myopathy with sarcoplasmic reticulum protein aggregates	Orphanet	88635	http://www.orpha.net/ORDO/Orphanet_88635
Rare genetic corneal disorder	Rare genetic corneal disorder	Orphanet	522556	http://www.orpha.net/ORDO/Orphanet_522556
Syndromic genetic ectopia lentis	Syndromic genetic ectopia lentis	Orphanet	522554	http://www.orpha.net/ORDO/Orphanet_522554
Aortic dilatation-joint hypermobility-arterial tortuosity syndrome	Aortic dilatation-joint hypermobility-arterial tortuosity syndrome	Orphanet	88636	http://www.orpha.net/ORDO/Orphanet_88636
Rare genetic conjunctivitis	Rare genetic conjunctivitis	Orphanet	522544	http://www.orpha.net/ORDO/Orphanet_522544
Ichthyosis-prematurity syndrome	Ichthyosis-prematurity syndrome	Orphanet	88621	http://www.orpha.net/ORDO/Orphanet_88621
Rare genetic disorder with conjunctival involvement as a major feature	Rare genetic disorder with conjunctival involvement as a major feature	Orphanet	522542	http://www.orpha.net/ORDO/Orphanet_522542
Posterior column ataxia-retinitis pigmentosa syndrome	Posterior column ataxia-retinitis pigmentosa syndrome	Orphanet	88628	http://www.orpha.net/ORDO/Orphanet_88628
Tritanopia	Tritanopia	Orphanet	88629	http://www.orpha.net/ORDO/Orphanet_88629
Syndromic genetic cataract	Syndromic genetic cataract	Orphanet	522548	http://www.orpha.net/ORDO/Orphanet_522548
Terminal osseous dysplasia-pigmentary defects syndrome	Terminal osseous dysplasia-pigmentary defects syndrome	Orphanet	88630	http://www.orpha.net/ORDO/Orphanet_88630
Rare genetic disorder with lens opacification	Rare genetic disorder with lens opacification	Orphanet	522546	http://www.orpha.net/ORDO/Orphanet_522546
Rare genetic disorder of the anterior segment of the eye	Rare genetic disorder of the anterior segment of the eye	Orphanet	522538	http://www.orpha.net/ORDO/Orphanet_522538
Isolated congenital anosmia	Isolated congenital anosmia	Orphanet	88620	http://www.orpha.net/ORDO/Orphanet_88620
Anterior segment developmental anomaly of genetic origin	Anterior segment developmental anomaly of genetic origin	Orphanet	522540	http://www.orpha.net/ORDO/Orphanet_522540
Familial acute necrotizing encephalopathy	Familial acute necrotizing encephalopathy	Orphanet	88619	http://www.orpha.net/ORDO/Orphanet_88619
Psychomotor delay due to S-adenosylhomocysteine hydrolase deficiency	Psychomotor delay due to S-adenosylhomocysteine hydrolase deficiency	Orphanet	88618	http://www.orpha.net/ORDO/Orphanet_88618
Lacrimal drainage system anomaly of genetic origin	Lacrimal drainage system anomaly of genetic origin	Orphanet	522534	http://www.orpha.net/ORDO/Orphanet_522534
Structural developmental eye defect of genetic origin	Structural developmental eye defect of genetic origin	Orphanet	522536	http://www.orpha.net/ORDO/Orphanet_522536
Autosomal recessive non-syndromic intellectual disability	Autosomal recessive non-syndromic intellectual disability	Orphanet	88616	http://www.orpha.net/ORDO/Orphanet_88616
Rare genetic disorder with entropion	Rare genetic disorder with entropion	Orphanet	522530	http://www.orpha.net/ORDO/Orphanet_522530
Rare genetic disorder of the lacrimal apparatus	Rare genetic disorder of the lacrimal apparatus	Orphanet	522532	http://www.orpha.net/ORDO/Orphanet_522532
Non-syndromic genetic deafness	Non-syndromic genetic deafness	Orphanet	87884	http://www.orpha.net/ORDO/Orphanet_87884
Sialidosis type 2	Sialidosis type 2	Orphanet	87876	http://www.orpha.net/ORDO/Orphanet_87876
Rare genetic palpebral disorder	Rare genetic palpebral disorder	Orphanet	522526	http://www.orpha.net/ORDO/Orphanet_522526
Rare genetic eyelid malposition disorder	Rare genetic eyelid malposition disorder	Orphanet	522528	http://www.orpha.net/ORDO/Orphanet_522528
Mal de Meleda	Mal de Meleda	Orphanet	87503	http://www.orpha.net/ORDO/Orphanet_87503
Rare genetic neuromuscular disorder with ocular motility/alignment anomaly	Rare genetic neuromuscular disorder with ocular motility/alignment anomaly	Orphanet	522522	http://www.orpha.net/ORDO/Orphanet_522522
Rare intellectual disability	Rare intellectual disability	Orphanet	87277	http://www.orpha.net/ORDO/Orphanet_87277
Rare genetic disorder of the ocular adnexa	Rare genetic disorder of the ocular adnexa	Orphanet	522524	http://www.orpha.net/ORDO/Orphanet_522524
Rare genetic disorder with strabismus	Rare genetic disorder with strabismus	Orphanet	522518	http://www.orpha.net/ORDO/Orphanet_522518
Syndromic genetic disorder with strabismus	Syndromic genetic disorder with strabismus	Orphanet	522520	http://www.orpha.net/ORDO/Orphanet_522520
Hereditary palmoplantar keratoderma, Gamborg-Nielsen type	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type	Orphanet	86923	http://www.orpha.net/ORDO/Orphanet_86923
Congenital optic disc excavation of genetic origin	Congenital optic disc excavation of genetic origin	Orphanet	522514	http://www.orpha.net/ORDO/Orphanet_522514
Rare genetic ocular motility/alignment disorder	Rare genetic ocular motility/alignment disorder	Orphanet	522516	http://www.orpha.net/ORDO/Orphanet_522516
Rare genetic ophthalmic disorder with cranial nerve involvement	Rare genetic ophthalmic disorder with cranial nerve involvement	Orphanet	522510	http://www.orpha.net/ORDO/Orphanet_522510
Dermatopathia pigmentosa reticularis	Dermatopathia pigmentosa reticularis	Orphanet	86920	http://www.orpha.net/ORDO/Orphanet_86920
Rare genetic optic nerve disorder	Rare genetic optic nerve disorder	Orphanet	522512	http://www.orpha.net/ORDO/Orphanet_522512
Keratosis palmaris et plantaris-clinodactyly syndrome	Keratosis palmaris et plantaris-clinodactyly syndrome	Orphanet	86919	http://www.orpha.net/ORDO/Orphanet_86919
Rare genetic ophthalmic disorder with cortical involvement	Rare genetic ophthalmic disorder with cortical involvement	Orphanet	522508	http://www.orpha.net/ORDO/Orphanet_522508
Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature	Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature	Orphanet	522506	http://www.orpha.net/ORDO/Orphanet_522506
Diffuse palmoplantar keratoderma-acrocyanosis syndrome	Diffuse palmoplantar keratoderma-acrocyanosis syndrome	Orphanet	86918	http://www.orpha.net/ORDO/Orphanet_86918
Rare genetic disorder of the visual organs	Rare genetic disorder of the visual organs	Orphanet	522504	http://www.orpha.net/ORDO/Orphanet_522504
Lymphedema-atrial septal defects-facial changes syndrome	Lymphedema-atrial septal defects-facial changes syndrome	Orphanet	86915	http://www.orpha.net/ORDO/Orphanet_86915
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	Orphanet	522077	http://www.orpha.net/ORDO/Orphanet_522077
Syndromic autoimmune enteropathy	Syndromic autoimmune enteropathy	Orphanet	522043	http://www.orpha.net/ORDO/Orphanet_522043
Myoclonic epilepsy in non-progressive encephalopathies	Myoclonic epilepsy in non-progressive encephalopathies	Orphanet	86913	http://www.orpha.net/ORDO/Orphanet_86913
Primary autoimmune enteropathy	Primary autoimmune enteropathy	Orphanet	522037	http://www.orpha.net/ORDO/Orphanet_522037
Lymphedema-cerebral arteriovenous anomaly syndrome	Lymphedema-cerebral arteriovenous anomaly syndrome	Orphanet	86914	http://www.orpha.net/ORDO/Orphanet_86914
Myoclonic epilepsy of infancy	Myoclonic epilepsy of infancy	Orphanet	86909	http://www.orpha.net/ORDO/Orphanet_86909
Epilepsy with myoclonic absences	Epilepsy with myoclonic absences	Orphanet	86911	http://www.orpha.net/ORDO/Orphanet_86911
Hypothalamic hamartomas with gelastic seizures	Hypothalamic hamartomas with gelastic seizures	Orphanet	86906	http://www.orpha.net/ORDO/Orphanet_86906
Idiopathic hemiconvulsion-hemiplegia syndrome	Idiopathic hemiconvulsion-hemiplegia syndrome	Orphanet	86908	http://www.orpha.net/ORDO/Orphanet_86908
Dendritic cell sarcoma not otherwise specified	Dendritic cell sarcoma not otherwise specified	Orphanet	86903	http://www.orpha.net/ORDO/Orphanet_86903
LAMA5-related multisystemic syndrome	LAMA5-related multisystemic syndrome	Orphanet	521450	http://www.orpha.net/ORDO/Orphanet_521450
Methotrexate-associated lymphoproliferative disorders	Methotrexate-associated lymphoproliferative disorders	Orphanet	86904	http://www.orpha.net/ORDO/Orphanet_86904
Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	Orphanet	521445	http://www.orpha.net/ORDO/Orphanet_521445
Congenital vertebral-cardiac-renal anomalies syndrome	Congenital vertebral-cardiac-renal anomalies syndrome	Orphanet	521438	http://www.orpha.net/ORDO/Orphanet_521438
Interdigitating dendritic cell sarcoma	Interdigitating dendritic cell sarcoma	Orphanet	86900	http://www.orpha.net/ORDO/Orphanet_86900
Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome	Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome	Orphanet	521432	http://www.orpha.net/ORDO/Orphanet_521432
Follicular dendritic cell sarcoma	Follicular dendritic cell sarcoma	Orphanet	86902	http://www.orpha.net/ORDO/Orphanet_86902
PLAA-associated neurodevelopmental disorder	PLAA-associated neurodevelopmental disorder	Orphanet	521426	http://www.orpha.net/ORDO/Orphanet_521426
Histiocytic sarcoma	Histiocytic sarcoma	Orphanet	86896	http://www.orpha.net/ORDO/Orphanet_86896
Autosomal dominant Charcot-Marie-Tooth disease type 2DD	Autosomal dominant Charcot-Marie-Tooth disease type 2DD	Orphanet	521414	http://www.orpha.net/ORDO/Orphanet_521414
Langerhans cell sarcoma	Langerhans cell sarcoma	Orphanet	86897	http://www.orpha.net/ORDO/Orphanet_86897
Xq25 microduplication syndrome	Xq25 microduplication syndrome	Orphanet	521258	http://www.orpha.net/ORDO/Orphanet_521258
Rare skin disease	Rare skin disease	Orphanet	89826	http://www.orpha.net/ORDO/Orphanet_89826
Proximal myopathy with focal depletion of mitochondria	Proximal myopathy with focal depletion of mitochondria	Orphanet	521305	http://www.orpha.net/ORDO/Orphanet_521305
Palmoplantar keratoderma with tonotubular keratin	Palmoplantar keratoderma with tonotubular keratin	Orphanet	89833	http://www.orpha.net/ORDO/Orphanet_89833
Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome	Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome	Orphanet	521308	http://www.orpha.net/ORDO/Orphanet_521308
Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	Orphanet	521390	http://www.orpha.net/ORDO/Orphanet_521390
NON RARE IN EUROPE: Non rare obesity	NON RARE IN EUROPE: Non rare obesity	Orphanet	521399	http://www.orpha.net/ORDO/Orphanet_521399
Dystonia-parkinsonism-hypermanganesemia syndrome	Dystonia-parkinsonism-hypermanganesemia syndrome	Orphanet	521406	http://www.orpha.net/ORDO/Orphanet_521406
Epidermolysis bullosa simplex, autosomal recessive K14	Epidermolysis bullosa simplex, autosomal recessive K14	Orphanet	89838	http://www.orpha.net/ORDO/Orphanet_89838
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect	Orphanet	521411	http://www.orpha.net/ORDO/Orphanet_521411
Progressive external ophthalmoplegia	Progressive external ophthalmoplegia	Orphanet	520820	http://www.orpha.net/ORDO/Orphanet_520820
Radiation-induced plexopathy	Radiation-induced plexopathy	Orphanet	521123	http://www.orpha.net/ORDO/Orphanet_521123
Osteoradionecrosis of the mandible	Osteoradionecrosis of the mandible	Orphanet	521127	http://www.orpha.net/ORDO/Orphanet_521127
Radiation-induced disorder	Radiation-induced disorder	Orphanet	521132	http://www.orpha.net/ORDO/Orphanet_521132
Mirizzi syndrome	Mirizzi syndrome	Orphanet	521219	http://www.orpha.net/ORDO/Orphanet_521219
Rare dementia	Rare dementia	Orphanet	89043	http://www.orpha.net/ORDO/Orphanet_89043
Genetic primary orthostatic disorder	Genetic primary orthostatic disorder	Orphanet	521232	http://www.orpha.net/ORDO/Orphanet_521232
Primary orthostatic disorder	Primary orthostatic disorder	Orphanet	521236	http://www.orpha.net/ORDO/Orphanet_521236
MUC1-related autosomal dominant tubulointerstitial kidney disease	MUC1-related autosomal dominant tubulointerstitial kidney disease	Orphanet	88949	http://www.orpha.net/ORDO/Orphanet_88949
UMOD-related autosomal dominant tubulointerstitial kidney disease	UMOD-related autosomal dominant tubulointerstitial kidney disease	Orphanet	88950	http://www.orpha.net/ORDO/Orphanet_88950
Rare congenital non-syndromic heart malformation	Rare congenital non-syndromic heart malformation	Orphanet	88991	http://www.orpha.net/ORDO/Orphanet_88991
Esophageal malformation	Esophageal malformation	Orphanet	88993	http://www.orpha.net/ORDO/Orphanet_88993
Isolated inherited retinal disorder	Isolated inherited retinal disorder	Orphanet	520817	http://www.orpha.net/ORDO/Orphanet_520817
Rare disorder of the visual organs	Rare disorder of the visual organs	Orphanet	520814	http://www.orpha.net/ORDO/Orphanet_520814
Pseudohypoaldosteronism type 2C	Pseudohypoaldosteronism type 2C	Orphanet	88940	http://www.orpha.net/ORDO/Orphanet_88940
Pseudohypoaldosteronism type 2B	Pseudohypoaldosteronism type 2B	Orphanet	88939	http://www.orpha.net/ORDO/Orphanet_88939
Fungal keratitis	Fungal keratitis	Orphanet	519930	http://www.orpha.net/ORDO/Orphanet_519930
Pseudohypoaldosteronism type 2A	Pseudohypoaldosteronism type 2A	Orphanet	88938	http://www.orpha.net/ORDO/Orphanet_88938
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Orphanet	88924	http://www.orpha.net/ORDO/Orphanet_88924
Autosomal dominant Alport syndrome	Autosomal dominant Alport syndrome	Orphanet	88918	http://www.orpha.net/ORDO/Orphanet_88918
Autosomal recessive Alport syndrome	Autosomal recessive Alport syndrome	Orphanet	88919	http://www.orpha.net/ORDO/Orphanet_88919
X-linked Alport syndrome	X-linked Alport syndrome	Orphanet	88917	http://www.orpha.net/ORDO/Orphanet_88917
Fragile X-associated tremor/ataxia syndrome	Fragile X-associated tremor/ataxia syndrome	Orphanet	93256	http://www.orpha.net/ORDO/Orphanet_93256
Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome	Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome	Orphanet	528105	http://www.orpha.net/ORDO/Orphanet_528105
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome	Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome	Orphanet	528091	http://www.orpha.net/ORDO/Orphanet_528091
Non-specific syndromic intellectual disability	Non-specific syndromic intellectual disability	Orphanet	528084	http://www.orpha.net/ORDO/Orphanet_528084
Crouzon syndrome-acanthosis nigricans syndrome	Crouzon syndrome-acanthosis nigricans syndrome	Orphanet	93262	http://www.orpha.net/ORDO/Orphanet_93262
Pfeiffer syndrome type 3	Pfeiffer syndrome type 3	Orphanet	93260	http://www.orpha.net/ORDO/Orphanet_93260
Pfeiffer syndrome type 2	Pfeiffer syndrome type 2	Orphanet	93259	http://www.orpha.net/ORDO/Orphanet_93259
Pfeiffer syndrome type 1	Pfeiffer syndrome type 1	Orphanet	93258	http://www.orpha.net/ORDO/Orphanet_93258
Short rib-polydactyly syndrome, Verma-Naumoff type	Short rib-polydactyly syndrome, Verma-Naumoff type	Orphanet	93271	http://www.orpha.net/ORDO/Orphanet_93271
Short rib-polydactyly syndrome, Majewski type	Short rib-polydactyly syndrome, Majewski type	Orphanet	93269	http://www.orpha.net/ORDO/Orphanet_93269
Short rib-polydactyly syndrome, Saldino-Noonan type	Short rib-polydactyly syndrome, Saldino-Noonan type	Orphanet	93270	http://www.orpha.net/ORDO/Orphanet_93270
Cloverleaf skull-multiple congenital anomalies syndrome	Cloverleaf skull-multiple congenital anomalies syndrome	Orphanet	93267	http://www.orpha.net/ORDO/Orphanet_93267
Short rib-polydactyly syndrome, Beemer-Langer type	Short rib-polydactyly syndrome, Beemer-Langer type	Orphanet	93268	http://www.orpha.net/ORDO/Orphanet_93268
Spondyloepimetaphyseal dysplasia, PAPSS2 type	Spondyloepimetaphyseal dysplasia, PAPSS2 type	Orphanet	93282	http://www.orpha.net/ORDO/Orphanet_93282
Spondyloepiphyseal dysplasia, Kimberley type	Spondyloepiphyseal dysplasia, Kimberley type	Orphanet	93283	http://www.orpha.net/ORDO/Orphanet_93283
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis	Orphanet	93279	http://www.orpha.net/ORDO/Orphanet_93279
Spondyloepiphyseal dysplasia, Omani type	Spondyloepiphyseal dysplasia, Omani type	Orphanet	93280	http://www.orpha.net/ORDO/Orphanet_93280
Polyostotic fibrous dysplasia	Polyostotic fibrous dysplasia	Orphanet	93276	http://www.orpha.net/ORDO/Orphanet_93276
Monostotic fibrous dysplasia	Monostotic fibrous dysplasia	Orphanet	93277	http://www.orpha.net/ORDO/Orphanet_93277
Thanatophoric dysplasia type 2	Thanatophoric dysplasia type 2	Orphanet	93274	http://www.orpha.net/ORDO/Orphanet_93274
Thanatophoric dysplasia, Glasgow variant	Thanatophoric dysplasia, Glasgow variant	Orphanet	93275	http://www.orpha.net/ORDO/Orphanet_93275
Renal dysplasia	Renal dysplasia	Orphanet	93108	http://www.orpha.net/ORDO/Orphanet_93108
NKX6-2-related autosomal recessive hypomyelinating leukodystrophy	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy	Orphanet	527497	http://www.orpha.net/ORDO/Orphanet_527497
Renal hypoplasia	Renal hypoplasia	Orphanet	93101	http://www.orpha.net/ORDO/Orphanet_93101
Posterior urethral valve	Posterior urethral valve	Orphanet	93110	http://www.orpha.net/ORDO/Orphanet_93110
Congenital megacalycosis	Congenital megacalycosis	Orphanet	93109	http://www.orpha.net/ORDO/Orphanet_93109
Severe myopia-generalized joint laxity-short stature syndrome	Severe myopia-generalized joint laxity-short stature syndrome	Orphanet	527450	http://www.orpha.net/ORDO/Orphanet_527450
Relapsing fever	Relapsing fever	Orphanet	91547	http://www.orpha.net/ORDO/Orphanet_91547
Renal agenesis, unilateral	Renal agenesis, unilateral	Orphanet	93100	http://www.orpha.net/ORDO/Orphanet_93100
Diaphragmatic hernia-short bowel-asplenia syndrome	Diaphragmatic hernia-short bowel-asplenia syndrome	Orphanet	527468	http://www.orpha.net/ORDO/Orphanet_527468
Congenital tufting enteropathy	Congenital tufting enteropathy	Orphanet	92050	http://www.orpha.net/ORDO/Orphanet_92050
Hypocalcemic vitamin D-resistant rickets	Hypocalcemic vitamin D-resistant rickets	Orphanet	93160	http://www.orpha.net/ORDO/Orphanet_93160
Transient pseudohypoaldosteronism	Transient pseudohypoaldosteronism	Orphanet	93164	http://www.orpha.net/ORDO/Orphanet_93164
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E	Orphanet	93114	http://www.orpha.net/ORDO/Orphanet_93114
HNF1B-related autosomal dominant tubulointerstitial kidney disease	HNF1B-related autosomal dominant tubulointerstitial kidney disease	Orphanet	93111	http://www.orpha.net/ORDO/Orphanet_93111
Pauci-immune glomerulonephritis	Pauci-immune glomerulonephritis	Orphanet	93126	http://www.orpha.net/ORDO/Orphanet_93126
Congenital bilateral megacalycosis	Congenital bilateral megacalycosis	Orphanet	93177	http://www.orpha.net/ORDO/Orphanet_93177
Renal dysplasia, unilateral	Renal dysplasia, unilateral	Orphanet	93172	http://www.orpha.net/ORDO/Orphanet_93172
Renal dysplasia, bilateral	Renal dysplasia, bilateral	Orphanet	93173	http://www.orpha.net/ORDO/Orphanet_93173
Unilateral congenital megacalycosis	Unilateral congenital megacalycosis	Orphanet	93176	http://www.orpha.net/ORDO/Orphanet_93176
Tibial hemimelia	Tibial hemimelia	Orphanet	93322	http://www.orpha.net/ORDO/Orphanet_93322
Radial hemimelia	Radial hemimelia	Orphanet	93321	http://www.orpha.net/ORDO/Orphanet_93321
Ulnar hemimelia	Ulnar hemimelia	Orphanet	93320	http://www.orpha.net/ORDO/Orphanet_93320
Autosomal dominant Kenny-Caffey syndrome	Autosomal dominant Kenny-Caffey syndrome	Orphanet	93325	http://www.orpha.net/ORDO/Orphanet_93325
Autosomal recessive Kenny-Caffey syndrome	Autosomal recessive Kenny-Caffey syndrome	Orphanet	93324	http://www.orpha.net/ORDO/Orphanet_93324
Fibular hemimelia	Fibular hemimelia	Orphanet	93323	http://www.orpha.net/ORDO/Orphanet_93323
Autosomal recessive omodysplasia	Autosomal recessive omodysplasia	Orphanet	93329	http://www.orpha.net/ORDO/Orphanet_93329
Autosomal dominant omodysplasia	Autosomal dominant omodysplasia	Orphanet	93328	http://www.orpha.net/ORDO/Orphanet_93328
Polydactyly of a triphalangeal thumb	Polydactyly of a triphalangeal thumb	Orphanet	93336	http://www.orpha.net/ORDO/Orphanet_93336
Postaxial polydactyly type B	Postaxial polydactyly type B	Orphanet	93335	http://www.orpha.net/ORDO/Orphanet_93335
Postaxial polydactyly type A	Postaxial polydactyly type A	Orphanet	93334	http://www.orpha.net/ORDO/Orphanet_93334
Pelviscapular dysplasia	Pelviscapular dysplasia	Orphanet	93333	http://www.orpha.net/ORDO/Orphanet_93333
Polydactyly of a biphalangeal thumb	Polydactyly of a biphalangeal thumb	Orphanet	93339	http://www.orpha.net/ORDO/Orphanet_93339
Polydactyly of an index finger	Polydactyly of an index finger	Orphanet	93337	http://www.orpha.net/ORDO/Orphanet_93337
Encephalopathy due to mitochondrial and peroxisomal fission defect	Encephalopathy due to mitochondrial and peroxisomal fission defect	Orphanet	527276	http://www.orpha.net/ORDO/Orphanet_527276
Polysyndactyly	Polysyndactyly	Orphanet	93338	http://www.orpha.net/ORDO/Orphanet_93338
X-linked spondyloepimetaphyseal dysplasia	X-linked spondyloepimetaphyseal dysplasia	Orphanet	93349	http://www.orpha.net/ORDO/Orphanet_93349
Spondyloepimetaphyseal dysplasia congenita, Strudwick type	Spondyloepimetaphyseal dysplasia congenita, Strudwick type	Orphanet	93346	http://www.orpha.net/ORDO/Orphanet_93346
Anauxetic dysplasia	Anauxetic dysplasia	Orphanet	93347	http://www.orpha.net/ORDO/Orphanet_93347
Spondyloepimetaphyseal dysplasia, Missouri type	Spondyloepimetaphyseal dysplasia, Missouri type	Orphanet	93356	http://www.orpha.net/ORDO/Orphanet_93356
Spondyloepimetaphyseal dysplasia, Irapa type	Spondyloepimetaphyseal dysplasia, Irapa type	Orphanet	93351	http://www.orpha.net/ORDO/Orphanet_93351
Spondyloepimetaphyseal dysplasia, Shohat type	Spondyloepimetaphyseal dysplasia, Shohat type	Orphanet	93352	http://www.orpha.net/ORDO/Orphanet_93352
Spondyloepiphyseal dysplasia tarda	Spondyloepiphyseal dysplasia tarda	Orphanet	93284	http://www.orpha.net/ORDO/Orphanet_93284
Adenoma of pancreas	Adenoma of pancreas	Orphanet	93292	http://www.orpha.net/ORDO/Orphanet_93292
Okihiro syndrome	Okihiro syndrome	Orphanet	93293	http://www.orpha.net/ORDO/Orphanet_93293
Achondrogenesis type 2	Achondrogenesis type 2	Orphanet	93296	http://www.orpha.net/ORDO/Orphanet_93296
Achondrogenesis type 1B	Achondrogenesis type 1B	Orphanet	93298	http://www.orpha.net/ORDO/Orphanet_93298
Hypochondrogenesis	Hypochondrogenesis	Orphanet	93297	http://www.orpha.net/ORDO/Orphanet_93297
Achondrogenesis type 1A	Achondrogenesis type 1A	Orphanet	93299	http://www.orpha.net/ORDO/Orphanet_93299
Brachyolmia, Maroteaux type	Brachyolmia, Maroteaux type	Orphanet	93302	http://www.orpha.net/ORDO/Orphanet_93302
Brachyolmia type 1, Hobaek type	Brachyolmia type 1, Hobaek type	Orphanet	93301	http://www.orpha.net/ORDO/Orphanet_93301
Brachyolmia type 1, Toledo type	Brachyolmia type 1, Toledo type	Orphanet	93303	http://www.orpha.net/ORDO/Orphanet_93303
Autosomal dominant brachyolmia	Autosomal dominant brachyolmia	Orphanet	93304	http://www.orpha.net/ORDO/Orphanet_93304
Multiple epiphyseal dysplasia type 4	Multiple epiphyseal dysplasia type 4	Orphanet	93307	http://www.orpha.net/ORDO/Orphanet_93307
Multiple epiphyseal dysplasia type 1	Multiple epiphyseal dysplasia type 1	Orphanet	93308	http://www.orpha.net/ORDO/Orphanet_93308
Multiple epiphyseal dysplasia type 5	Multiple epiphyseal dysplasia type 5	Orphanet	93311	http://www.orpha.net/ORDO/Orphanet_93311
Spondylometaphyseal dysplasia, Kozlowski type	Spondylometaphyseal dysplasia, Kozlowski type	Orphanet	93314	http://www.orpha.net/ORDO/Orphanet_93314
Spondylometaphyseal dysplasia, 'corner fracture' type	Spondylometaphyseal dysplasia, 'corner fracture' type	Orphanet	93315	http://www.orpha.net/ORDO/Orphanet_93315
Spondylometaphyseal dysplasia, Schmidt type	Spondylometaphyseal dysplasia, Schmidt type	Orphanet	93316	http://www.orpha.net/ORDO/Orphanet_93316
Spondylometaphyseal dysplasia, Sedaghatian type	Spondylometaphyseal dysplasia, Sedaghatian type	Orphanet	93317	http://www.orpha.net/ORDO/Orphanet_93317
Rare endocrine growth disease	Rare endocrine growth disease	Orphanet	90692	http://www.orpha.net/ORDO/Orphanet_90692
17q24.2 microdeletion syndrome	17q24.2 microdeletion syndrome	Orphanet	529962	http://www.orpha.net/ORDO/Orphanet_529962
Secondary erythromelalgia	Secondary erythromelalgia	Orphanet	529864	http://www.orpha.net/ORDO/Orphanet_529864
Combined hepatocellular carcinoma and cholangiocarcinoma	Combined hepatocellular carcinoma and cholangiocarcinoma	Orphanet	529852	http://www.orpha.net/ORDO/Orphanet_529852
Hypothyroidism due to TSH receptor mutations	Hypothyroidism due to TSH receptor mutations	Orphanet	90673	http://www.orpha.net/ORDO/Orphanet_90673
Isolated thyroid-stimulating hormone deficiency	Isolated thyroid-stimulating hormone deficiency	Orphanet	90674	http://www.orpha.net/ORDO/Orphanet_90674
Letrozole toxicity	Letrozole toxicity	Orphanet	529831	http://www.orpha.net/ORDO/Orphanet_529831
Enzalutamide toxicity	Enzalutamide toxicity	Orphanet	529828	http://www.orpha.net/ORDO/Orphanet_529828
NON RARE IN EUROPE: Exfoliation syndrome	NON RARE IN EUROPE: Exfoliation syndrome	Orphanet	529819	http://www.orpha.net/ORDO/Orphanet_529819
Chronic bilirubin encephalopathy	Chronic bilirubin encephalopathy	Orphanet	529808	http://www.orpha.net/ORDO/Orphanet_529808
Charcot-Marie-Tooth disease type 1E	Charcot-Marie-Tooth disease type 1E	Orphanet	90658	http://www.orpha.net/ORDO/Orphanet_90658
Acute bilirubin encephalopathy	Acute bilirubin encephalopathy	Orphanet	529799	http://www.orpha.net/ORDO/Orphanet_529799
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	Orphanet	90791	http://www.orpha.net/ORDO/Orphanet_90791
Congenital lipoid adrenal hyperplasia due to STAR deficency	Congenital lipoid adrenal hyperplasia due to STAR deficency	Orphanet	90790	http://www.orpha.net/ORDO/Orphanet_90790
46,XY disorder of sex development due to testicular steroidogenesis defect	46,XY disorder of sex development due to testicular steroidogenesis defect	Orphanet	90787	http://www.orpha.net/ORDO/Orphanet_90787
46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect	Orphanet	90786	http://www.orpha.net/ORDO/Orphanet_90786
46,XY disorder of sex development due to a testosterone synthesis defect	46,XY disorder of sex development due to a testosterone synthesis defect	Orphanet	90783	http://www.orpha.net/ORDO/Orphanet_90783
46,XX disorder of sex development induced by fetal androgens excess	46,XX disorder of sex development induced by fetal androgens excess	Orphanet	90776	http://www.orpha.net/ORDO/Orphanet_90776
Disorder of sex development	Disorder of sex development	Orphanet	90771	http://www.orpha.net/ORDO/Orphanet_90771
Inflammatory bowel disease-recurrent sinopulmonary infections syndrome	Inflammatory bowel disease-recurrent sinopulmonary infections syndrome	Orphanet	529980	http://www.orpha.net/ORDO/Orphanet_529980
Dermoid or epidermoid cyst of the central nervous system	Dermoid or epidermoid cyst of the central nervous system	Orphanet	530033	http://www.orpha.net/ORDO/Orphanet_530033
Immune dysregulation with inflammatory bowel disease	Immune dysregulation with inflammatory bowel disease	Orphanet	529974	http://www.orpha.net/ORDO/Orphanet_529974
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome	Orphanet	529977	http://www.orpha.net/ORDO/Orphanet_529977
Non-acquired panhypopituitarism	Non-acquired panhypopituitarism	Orphanet	90695	http://www.orpha.net/ORDO/Orphanet_90695
Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome	Orphanet	529965	http://www.orpha.net/ORDO/Orphanet_529965
Male infertility due to acephalic spermatozoa	Male infertility due to acephalic spermatozoa	Orphanet	529970	http://www.orpha.net/ORDO/Orphanet_529970
Scleromyxedema without monoclonal gammopathy	Scleromyxedema without monoclonal gammopathy	Orphanet	90400	http://www.orpha.net/ORDO/Orphanet_90400
X-linked non-syndromic sensorineural deafness type DFN	X-linked non-syndromic sensorineural deafness type DFN	Orphanet	90625	http://www.orpha.net/ORDO/Orphanet_90625
Autosomal dominant non-syndromic sensorineural deafness type DFNA	Autosomal dominant non-syndromic sensorineural deafness type DFNA	Orphanet	90635	http://www.orpha.net/ORDO/Orphanet_90635
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Autosomal recessive non-syndromic sensorineural deafness type DFNB	Orphanet	90636	http://www.orpha.net/ORDO/Orphanet_90636
Acral persistent papular mucinosis	Acral persistent papular mucinosis	Orphanet	90396	http://www.orpha.net/ORDO/Orphanet_90396
Monoclonal mast cell activation syndrome	Monoclonal mast cell activation syndrome	Orphanet	529468	http://www.orpha.net/ORDO/Orphanet_529468
Self-healing papular mucinosis	Self-healing papular mucinosis	Orphanet	90397	http://www.orpha.net/ORDO/Orphanet_90397
Duane retraction syndrome with congenital deafness	Duane retraction syndrome with congenital deafness	Orphanet	529574	http://www.orpha.net/ORDO/Orphanet_529574
Localized lichen myxedematosus with mixed features of different subtypes	Localized lichen myxedematosus with mixed features of different subtypes	Orphanet	90398	http://www.orpha.net/ORDO/Orphanet_90398
Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms	Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms	Orphanet	90399	http://www.orpha.net/ORDO/Orphanet_90399
Nodular lichen myxedematosus	Nodular lichen myxedematosus	Orphanet	90393	http://www.orpha.net/ORDO/Orphanet_90393
Discrete papular lichen myxedematosus	Discrete papular lichen myxedematosus	Orphanet	90394	http://www.orpha.net/ORDO/Orphanet_90394
Papular mucinosis of infancy	Papular mucinosis of infancy	Orphanet	90395	http://www.orpha.net/ORDO/Orphanet_90395
Hypotrichosis simplex of the scalp	Hypotrichosis simplex of the scalp	Orphanet	90368	http://www.orpha.net/ORDO/Orphanet_90368
Telangiectasia macularis eruptiva perstans	Telangiectasia macularis eruptiva perstans	Orphanet	90389	http://www.orpha.net/ORDO/Orphanet_90389
Anonychia-onychodystrophy syndrome	Anonychia-onychodystrophy syndrome	Orphanet	90390	http://www.orpha.net/ORDO/Orphanet_90390
Stickler syndrome type 1	Stickler syndrome type 1	Orphanet	90653	http://www.orpha.net/ORDO/Orphanet_90653
Otopalatodigital syndrome type 2	Otopalatodigital syndrome type 2	Orphanet	90652	http://www.orpha.net/ORDO/Orphanet_90652
Stickler syndrome type 2	Stickler syndrome type 2	Orphanet	90654	http://www.orpha.net/ORDO/Orphanet_90654
Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	Orphanet	529665	http://www.orpha.net/ORDO/Orphanet_529665
Jervell and Lange-Nielsen syndrome	Jervell and Lange-Nielsen syndrome	Orphanet	90647	http://www.orpha.net/ORDO/Orphanet_90647
Otopalatodigital syndrome type 1	Otopalatodigital syndrome type 1	Orphanet	90650	http://www.orpha.net/ORDO/Orphanet_90650
Orofaciodigital syndrome type 7	Orofaciodigital syndrome type 7	Orphanet	90649	http://www.orpha.net/ORDO/Orphanet_90649
Deafness-hypogonadism syndrome	Deafness-hypogonadism syndrome	Orphanet	90646	http://www.orpha.net/ORDO/Orphanet_90646
Syndromic genetic deafness	Syndromic genetic deafness	Orphanet	90642	http://www.orpha.net/ORDO/Orphanet_90642
Mitochondrial non-syndromic sensorineural deafness	Mitochondrial non-syndromic sensorineural deafness	Orphanet	90641	http://www.orpha.net/ORDO/Orphanet_90641
Familial thoracic aortic aneurysm and aortic dissection	Familial thoracic aortic aneurysm and aortic dissection	Orphanet	91387	http://www.orpha.net/ORDO/Orphanet_91387
Isolated cryptophthalmia	Isolated cryptophthalmia	Orphanet	91396	http://www.orpha.net/ORDO/Orphanet_91396
Hereditary angioedema	Hereditary angioedema	Orphanet	91378	http://www.orpha.net/ORDO/Orphanet_91378
Acquired angioedema	Acquired angioedema	Orphanet	91385	http://www.orpha.net/ORDO/Orphanet_91385
Marcus-Gunn syndrome	Marcus-Gunn syndrome	Orphanet	91412	http://www.orpha.net/ORDO/Orphanet_91412
Congenital Horner syndrome	Congenital Horner syndrome	Orphanet	91413	http://www.orpha.net/ORDO/Orphanet_91413
Isolated ankyloblepharon filiforme adnatum	Isolated ankyloblepharon filiforme adnatum	Orphanet	91397	http://www.orpha.net/ORDO/Orphanet_91397
Congenital ptosis	Congenital ptosis	Orphanet	91411	http://www.orpha.net/ORDO/Orphanet_91411
Duplication of the esophagus	Duplication of the esophagus	Orphanet	91357	http://www.orpha.net/ORDO/Orphanet_91357
Pituitary deficiency due to empty sella turcica syndrome	Pituitary deficiency due to empty sella turcica syndrome	Orphanet	91354	http://www.orpha.net/ORDO/Orphanet_91354
Sheehan syndrome	Sheehan syndrome	Orphanet	91355	http://www.orpha.net/ORDO/Orphanet_91355
Non-specific interstitial pneumonia	Non-specific interstitial pneumonia	Orphanet	91364	http://www.orpha.net/ORDO/Orphanet_91364
Congenital esophageal diverticulum	Congenital esophageal diverticulum	Orphanet	91358	http://www.orpha.net/ORDO/Orphanet_91358
Chronic pneumonitis of infancy	Chronic pneumonitis of infancy	Orphanet	91359	http://www.orpha.net/ORDO/Orphanet_91359
Snowflake vitreoretinal degeneration	Snowflake vitreoretinal degeneration	Orphanet	91496	http://www.orpha.net/ORDO/Orphanet_91496
Persistent hyperplastic primary vitreous	Persistent hyperplastic primary vitreous	Orphanet	91495	http://www.orpha.net/ORDO/Orphanet_91495
Macular coloboma-cleft palate-hallux valgus syndrome	Macular coloboma-cleft palate-hallux valgus syndrome	Orphanet	91494	http://www.orpha.net/ORDO/Orphanet_91494
Early-onset non-syndromic cataract	Early-onset non-syndromic cataract	Orphanet	91492	http://www.orpha.net/ORDO/Orphanet_91492
Lyme disease	Lyme disease	Orphanet	91546	http://www.orpha.net/ORDO/Orphanet_91546
Tubulointerstitial nephritis and uveitis syndrome	Tubulointerstitial nephritis and uveitis syndrome	Orphanet	91500	http://www.orpha.net/ORDO/Orphanet_91500
Familial congenital palsy of trochlear nerve	Familial congenital palsy of trochlear nerve	Orphanet	91498	http://www.orpha.net/ORDO/Orphanet_91498
Ring dermoid of cornea	Ring dermoid of cornea	Orphanet	91481	http://www.orpha.net/ORDO/Orphanet_91481
Isolated congenital alacrima	Isolated congenital alacrima	Orphanet	91416	http://www.orpha.net/ORDO/Orphanet_91416
Pilomatrixoma	Pilomatrixoma	Orphanet	91414	http://www.orpha.net/ORDO/Orphanet_91414
Congenital ectropion uveae	Congenital ectropion uveae	Orphanet	91491	http://www.orpha.net/ORDO/Orphanet_91491
Isolated congenital sclerocornea	Isolated congenital sclerocornea	Orphanet	91490	http://www.orpha.net/ORDO/Orphanet_91490
Isolated congenital megalocornea	Isolated congenital megalocornea	Orphanet	91489	http://www.orpha.net/ORDO/Orphanet_91489
Rieger anomaly	Rieger anomaly	Orphanet	91483	http://www.orpha.net/ORDO/Orphanet_91483
Adenovirus infection in immunocompromised patients	Adenovirus infection in immunocompromised patients	Orphanet	91127	http://www.orpha.net/ORDO/Orphanet_91127
Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome	Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome	Orphanet	91129	http://www.orpha.net/ORDO/Orphanet_91129
Cardiomyopathy-hypotonia-lactic acidosis syndrome	Cardiomyopathy-hypotonia-lactic acidosis syndrome	Orphanet	91130	http://www.orpha.net/ORDO/Orphanet_91130
DK1-CDG	DK1-CDG	Orphanet	91131	http://www.orpha.net/ORDO/Orphanet_91131
Ichthyosis-hypotrichosis syndrome	Ichthyosis-hypotrichosis syndrome	Orphanet	91132	http://www.orpha.net/ORDO/Orphanet_91132
Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome	Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome	Orphanet	91133	http://www.orpha.net/ORDO/Orphanet_91133
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	Orphanet	90793	http://www.orpha.net/ORDO/Orphanet_90793
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Orphanet	90794	http://www.orpha.net/ORDO/Orphanet_90794
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	Orphanet	90795	http://www.orpha.net/ORDO/Orphanet_90795
46,XY disorder of sex development due to isolated 17,20-lyase deficiency	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	Orphanet	90796	http://www.orpha.net/ORDO/Orphanet_90796
Partial androgen insensitivity syndrome	Partial androgen insensitivity syndrome	Orphanet	90797	http://www.orpha.net/ORDO/Orphanet_90797
Primary lipodystrophy	Primary lipodystrophy	Orphanet	90970	http://www.orpha.net/ORDO/Orphanet_90970
Autosomal recessive axonal hereditary motor and sensory neuropathy	Autosomal recessive axonal hereditary motor and sensory neuropathy	Orphanet	91024	http://www.orpha.net/ORDO/Orphanet_91024
Other metabolic disease	Other metabolic disease	Orphanet	91088	http://www.orpha.net/ORDO/Orphanet_91088
TSH-secreting pituitary adenoma	TSH-secreting pituitary adenoma	Orphanet	91347	http://www.orpha.net/ORDO/Orphanet_91347
Non-functioning pituitary adenoma	Non-functioning pituitary adenoma	Orphanet	91349	http://www.orpha.net/ORDO/Orphanet_91349
Functioning gonadotropic adenoma	Functioning gonadotropic adenoma	Orphanet	91348	http://www.orpha.net/ORDO/Orphanet_91348
Pituitary dermoid and epidermoid cysts	Pituitary dermoid and epidermoid cysts	Orphanet	91351	http://www.orpha.net/ORDO/Orphanet_91351
Pituitary deficiency due to Rathke cleft cysts	Pituitary deficiency due to Rathke cleft cysts	Orphanet	91350	http://www.orpha.net/ORDO/Orphanet_91350
Germinoma of the central nervous system	Germinoma of the central nervous system	Orphanet	91352	http://www.orpha.net/ORDO/Orphanet_91352
Acquired monoclonal Ig light chain-associated Fanconi syndrome	Acquired monoclonal Ig light chain-associated Fanconi syndrome	Orphanet	91136	http://www.orpha.net/ORDO/Orphanet_91136
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	Orphanet	91135	http://www.orpha.net/ORDO/Orphanet_91135
Cryoglobulinemic vasculitis	Cryoglobulinemic vasculitis	Orphanet	91138	http://www.orpha.net/ORDO/Orphanet_91138
Immunotactoid or fibrillary glomerulopathy	Immunotactoid or fibrillary glomerulopathy	Orphanet	91137	http://www.orpha.net/ORDO/Orphanet_91137
Unspecified juvenile idiopathic arthritis	Unspecified juvenile idiopathic arthritis	Orphanet	91140	http://www.orpha.net/ORDO/Orphanet_91140
Simple cryoglobulinemia	Simple cryoglobulinemia	Orphanet	91139	http://www.orpha.net/ORDO/Orphanet_91139
Hereditary angioedema with C1Inh deficiency	Hereditary angioedema with C1Inh deficiency	Orphanet	528623	http://www.orpha.net/ORDO/Orphanet_528623
46,XX disorder of sex development induced by maternal-derived androgen	46,XX disorder of sex development induced by maternal-derived androgen	Orphanet	91144	http://www.orpha.net/ORDO/Orphanet_91144
Hereditary angioedema with normal C1Inh	Hereditary angioedema with normal C1Inh	Orphanet	528647	http://www.orpha.net/ORDO/Orphanet_528647
Acquired angioedema with C1Inh deficiency	Acquired angioedema with C1Inh deficiency	Orphanet	528663	http://www.orpha.net/ORDO/Orphanet_528663
Rare urticaria	Rare urticaria	Orphanet	79384	http://www.orpha.net/ORDO/Orphanet_79384
Unclassified genetic skin disorder	Unclassified genetic skin disorder	Orphanet	79385	http://www.orpha.net/ORDO/Orphanet_79385
Subcutaneous tissue disease	Subcutaneous tissue disease	Orphanet	79382	http://www.orpha.net/ORDO/Orphanet_79382
Mucopolysaccharidosis with skin involvement	Mucopolysaccharidosis with skin involvement	Orphanet	79388	http://www.orpha.net/ORDO/Orphanet_79388
Premature aging	Premature aging	Orphanet	79389	http://www.orpha.net/ORDO/Orphanet_79389
Rare skin tumor or hamartoma	Rare skin tumor or hamartoma	Orphanet	79386	http://www.orpha.net/ORDO/Orphanet_79386
Metabolic disease with skin involvement	Metabolic disease with skin involvement	Orphanet	79387	http://www.orpha.net/ORDO/Orphanet_79387
Rare photodermatosis	Rare photodermatosis	Orphanet	79390	http://www.orpha.net/ORDO/Orphanet_79390
Immune deficiency with skin involvement	Immune deficiency with skin involvement	Orphanet	79391	http://www.orpha.net/ORDO/Orphanet_79391
Epidermolysis bullosa simplex, generalized severe	Epidermolysis bullosa simplex, generalized severe	Orphanet	79396	http://www.orpha.net/ORDO/Orphanet_79396
Epidermolysis bullosa simplex with mottled pigmentation	Epidermolysis bullosa simplex with mottled pigmentation	Orphanet	79397	http://www.orpha.net/ORDO/Orphanet_79397
Congenital non-bullous ichthyosiform erythroderma	Congenital non-bullous ichthyosiform erythroderma	Orphanet	79394	http://www.orpha.net/ORDO/Orphanet_79394
Keratoderma hereditarium mutilans with ichthyosis	Keratoderma hereditarium mutilans with ichthyosis	Orphanet	79395	http://www.orpha.net/ORDO/Orphanet_79395
Isolated nail anomaly	Isolated nail anomaly	Orphanet	79369	http://www.orpha.net/ORDO/Orphanet_79369
Nail anomaly	Nail anomaly	Orphanet	79368	http://www.orpha.net/ORDO/Orphanet_79368
Syndromic hair shaft abnormality	Syndromic hair shaft abnormality	Orphanet	79367	http://www.orpha.net/ORDO/Orphanet_79367
Isolated hair shaft abnormality	Isolated hair shaft abnormality	Orphanet	79366	http://www.orpha.net/ORDO/Orphanet_79366
Ectodermal dysplasia syndrome	Ectodermal dysplasia syndrome	Orphanet	79373	http://www.orpha.net/ORDO/Orphanet_79373
Sebaceous gland anomaly	Sebaceous gland anomaly	Orphanet	79372	http://www.orpha.net/ORDO/Orphanet_79372
Syndromic nail anomaly	Syndromic nail anomaly	Orphanet	79370	http://www.orpha.net/ORDO/Orphanet_79370
Dermis disorder	Dermis disorder	Orphanet	79377	http://www.orpha.net/ORDO/Orphanet_79377
Hypopigmentation of the skin	Hypopigmentation of the skin	Orphanet	79376	http://www.orpha.net/ORDO/Orphanet_79376
Hyperpigmentation of the skin	Hyperpigmentation of the skin	Orphanet	79375	http://www.orpha.net/ORDO/Orphanet_79375
Pigmentation anomaly of the skin	Pigmentation anomaly of the skin	Orphanet	79374	http://www.orpha.net/ORDO/Orphanet_79374
Other dermis disorder	Other dermis disorder	Orphanet	79381	http://www.orpha.net/ORDO/Orphanet_79381
Mixed dermis disorder	Mixed dermis disorder	Orphanet	79380	http://www.orpha.net/ORDO/Orphanet_79380
Skin vascular disease	Skin vascular disease	Orphanet	79379	http://www.orpha.net/ORDO/Orphanet_79379
Dermis elastic tissue disorder	Dermis elastic tissue disorder	Orphanet	79378	http://www.orpha.net/ORDO/Orphanet_79378
Woolly hair nevus	Woolly hair nevus	Orphanet	79414	http://www.orpha.net/ORDO/Orphanet_79414
Epidermolysis bullosa simplex, generalized intermediate	Epidermolysis bullosa simplex, generalized intermediate	Orphanet	79399	http://www.orpha.net/ORDO/Orphanet_79399
Epidermolysis bullosa simplex, Ogna type	Epidermolysis bullosa simplex, Ogna type	Orphanet	79401	http://www.orpha.net/ORDO/Orphanet_79401
Localized epidermolysis bullosa simplex	Localized epidermolysis bullosa simplex	Orphanet	79400	http://www.orpha.net/ORDO/Orphanet_79400
Junctional epidermolysis bullosa-pyloric atresia syndrome	Junctional epidermolysis bullosa-pyloric atresia syndrome	Orphanet	79403	http://www.orpha.net/ORDO/Orphanet_79403
Junctional epidermolysis bullosa, generalized intermediate	Junctional epidermolysis bullosa, generalized intermediate	Orphanet	79402	http://www.orpha.net/ORDO/Orphanet_79402
Junctional epidermolysis bullosa inversa	Junctional epidermolysis bullosa inversa	Orphanet	79405	http://www.orpha.net/ORDO/Orphanet_79405
Junctional epidermolysis bullosa, generalized severe	Junctional epidermolysis bullosa, generalized severe	Orphanet	79404	http://www.orpha.net/ORDO/Orphanet_79404
Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type	Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type	Orphanet	79407	http://www.orpha.net/ORDO/Orphanet_79407
Late-onset junctional epidermolysis bullosa	Late-onset junctional epidermolysis bullosa	Orphanet	79406	http://www.orpha.net/ORDO/Orphanet_79406
Recessive dystrophic epidermolysis bullosa inversa	Recessive dystrophic epidermolysis bullosa inversa	Orphanet	79409	http://www.orpha.net/ORDO/Orphanet_79409
Severe generalized recessive dystrophic epidermolysis bullosa	Severe generalized recessive dystrophic epidermolysis bullosa	Orphanet	79408	http://www.orpha.net/ORDO/Orphanet_79408
Transient bullous dermolysis of the newborn	Transient bullous dermolysis of the newborn	Orphanet	79411	http://www.orpha.net/ORDO/Orphanet_79411
Pretibial dystrophic epidermolysis bullosa	Pretibial dystrophic epidermolysis bullosa	Orphanet	79410	http://www.orpha.net/ORDO/Orphanet_79410
Milroy disease	Milroy disease	Orphanet	79452	http://www.orpha.net/ORDO/Orphanet_79452
Non-hereditary congenital primary lymphedema	Non-hereditary congenital primary lymphedema	Orphanet	79450	http://www.orpha.net/ORDO/Orphanet_79450
Multiple pterygium syndrome, Aslan type	Multiple pterygium syndrome, Aslan type	Orphanet	79446	http://www.orpha.net/ORDO/Orphanet_79446
X-linked lethal multiple pterygium syndrome	X-linked lethal multiple pterygium syndrome	Orphanet	79447	http://www.orpha.net/ORDO/Orphanet_79447
Oley syndrome	Oley syndrome	Orphanet	79458	http://www.orpha.net/ORDO/Orphanet_79458
Follicular atrophoderma-basal cell carcinoma	Follicular atrophoderma-basal cell carcinoma	Orphanet	79459	http://www.orpha.net/ORDO/Orphanet_79459
Diffuse cutaneous mastocytosis	Diffuse cutaneous mastocytosis	Orphanet	79456	http://www.orpha.net/ORDO/Orphanet_79456
Maculopapular cutaneous mastocytosis	Maculopapular cutaneous mastocytosis	Orphanet	79457	http://www.orpha.net/ORDO/Orphanet_79457
Cutaneous mastocytoma	Cutaneous mastocytoma	Orphanet	79455	http://www.orpha.net/ORDO/Orphanet_79455
Oculocutaneous albinism type 4	Oculocutaneous albinism type 4	Orphanet	79435	http://www.orpha.net/ORDO/Orphanet_79435
Oculocutaneous albinism type 1B	Oculocutaneous albinism type 1B	Orphanet	79434	http://www.orpha.net/ORDO/Orphanet_79434
Oculocutaneous albinism type 3	Oculocutaneous albinism type 3	Orphanet	79433	http://www.orpha.net/ORDO/Orphanet_79433
Oculocutaneous albinism type 2	Oculocutaneous albinism type 2	Orphanet	79432	http://www.orpha.net/ORDO/Orphanet_79432
Oculocutaneous albinism type 1A	Oculocutaneous albinism type 1A	Orphanet	79431	http://www.orpha.net/ORDO/Orphanet_79431
Hermansky-Pudlak syndrome	Hermansky-Pudlak syndrome	Orphanet	79430	http://www.orpha.net/ORDO/Orphanet_79430
Pseudopseudohypoparathyroidism	Pseudopseudohypoparathyroidism	Orphanet	79445	http://www.orpha.net/ORDO/Orphanet_79445
Pseudohypoparathyroidism type 1C	Pseudohypoparathyroidism type 1C	Orphanet	79444	http://www.orpha.net/ORDO/Orphanet_79444
Pseudohypoparathyroidism type 1A	Pseudohypoparathyroidism type 1A	Orphanet	79443	http://www.orpha.net/ORDO/Orphanet_79443
Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome	Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome	Orphanet	79482	http://www.orpha.net/ORDO/Orphanet_79482
Phakomatosis cesioflammea	Phakomatosis cesioflammea	Orphanet	79483	http://www.orpha.net/ORDO/Orphanet_79483
Phakomatosis cesiomarmorata	Phakomatosis cesiomarmorata	Orphanet	79484	http://www.orpha.net/ORDO/Orphanet_79484
Phakomatosis spilorosea	Phakomatosis spilorosea	Orphanet	79485	http://www.orpha.net/ORDO/Orphanet_79485
Griscelli syndrome type 3	Griscelli syndrome type 3	Orphanet	79478	http://www.orpha.net/ORDO/Orphanet_79478
Pemphigus vegetans	Pemphigus vegetans	Orphanet	79479	http://www.orpha.net/ORDO/Orphanet_79479
Pemphigus erythematosus	Pemphigus erythematosus	Orphanet	79480	http://www.orpha.net/ORDO/Orphanet_79480
Pemphigus foliaceus	Pemphigus foliaceus	Orphanet	79481	http://www.orpha.net/ORDO/Orphanet_79481
Microcystic lymphatic malformation	Microcystic lymphatic malformation	Orphanet	79490	http://www.orpha.net/ORDO/Orphanet_79490
Pili gemini	Pili gemini	Orphanet	79492	http://www.orpha.net/ORDO/Orphanet_79492
Brooke-Spiegler syndrome	Brooke-Spiegler syndrome	Orphanet	79493	http://www.orpha.net/ORDO/Orphanet_79493
Cystic hygroma	Cystic hygroma	Orphanet	79486	http://www.orpha.net/ORDO/Orphanet_79486
Macrocystic lymphatic malformation	Macrocystic lymphatic malformation	Orphanet	79489	http://www.orpha.net/ORDO/Orphanet_79489
Verrucous nevus	Verrucous nevus	Orphanet	79467	http://www.orpha.net/ORDO/Orphanet_79467
Inflammatory linear verrucous epidermal nevus	Inflammatory linear verrucous epidermal nevus	Orphanet	79466	http://www.orpha.net/ORDO/Orphanet_79466
Acanthokeratolytic verrucous nevus	Acanthokeratolytic verrucous nevus	Orphanet	79468	http://www.orpha.net/ORDO/Orphanet_79468
Atypical Werner syndrome	Atypical Werner syndrome	Orphanet	79474	http://www.orpha.net/ORDO/Orphanet_79474
Griscelli syndrome type 2	Griscelli syndrome type 2	Orphanet	79477	http://www.orpha.net/ORDO/Orphanet_79477
Griscelli syndrome type 1	Griscelli syndrome type 1	Orphanet	79476	http://www.orpha.net/ORDO/Orphanet_79476
Porphyria variegata	Porphyria variegata	Orphanet	79473	http://www.orpha.net/ORDO/Orphanet_79473
Juvenile neuronal ceroid lipofuscinosis	Juvenile neuronal ceroid lipofuscinosis	Orphanet	79264	http://www.orpha.net/ORDO/Orphanet_79264
Infantile neuronal ceroid lipofuscinosis	Infantile neuronal ceroid lipofuscinosis	Orphanet	79263	http://www.orpha.net/ORDO/Orphanet_79263
Adult neuronal ceroid lipofuscinosis	Adult neuronal ceroid lipofuscinosis	Orphanet	79262	http://www.orpha.net/ORDO/Orphanet_79262
Sanfilippo syndrome type A	Sanfilippo syndrome type A	Orphanet	79269	http://www.orpha.net/ORDO/Orphanet_79269
GM1 gangliosidosis type 3	GM1 gangliosidosis type 3	Orphanet	79257	http://www.orpha.net/ORDO/Orphanet_79257
GM1 gangliosidosis type 2	GM1 gangliosidosis type 2	Orphanet	79256	http://www.orpha.net/ORDO/Orphanet_79256
GM1 gangliosidosis type 1	GM1 gangliosidosis type 1	Orphanet	79255	http://www.orpha.net/ORDO/Orphanet_79255
Classic phenylketonuria	Classic phenylketonuria	Orphanet	79254	http://www.orpha.net/ORDO/Orphanet_79254
Glycogen storage disease type 1d	Glycogen storage disease type 1d	Orphanet	79261	http://www.orpha.net/ORDO/Orphanet_79261
Glycogen storage disease type 1c	Glycogen storage disease type 1c	Orphanet	79260	http://www.orpha.net/ORDO/Orphanet_79260
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	Orphanet	79259	http://www.orpha.net/ORDO/Orphanet_79259
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia	Orphanet	79258	http://www.orpha.net/ORDO/Orphanet_79258
Pyruvate dehydrogenase phosphatase deficiency	Pyruvate dehydrogenase phosphatase deficiency	Orphanet	79246	http://www.orpha.net/ORDO/Orphanet_79246
Mild phenylketonuria	Mild phenylketonuria	Orphanet	79253	http://www.orpha.net/ORDO/Orphanet_79253
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency	Orphanet	79240	http://www.orpha.net/ORDO/Orphanet_79240
Biotinidase deficiency	Biotinidase deficiency	Orphanet	79241	http://www.orpha.net/ORDO/Orphanet_79241
Galactose epimerase deficiency	Galactose epimerase deficiency	Orphanet	79238	http://www.orpha.net/ORDO/Orphanet_79238
Classic galactosemia	Classic galactosemia	Orphanet	79239	http://www.orpha.net/ORDO/Orphanet_79239
Pyruvate dehydrogenase E2 deficiency	Pyruvate dehydrogenase E2 deficiency	Orphanet	79244	http://www.orpha.net/ORDO/Orphanet_79244
Holocarboxylase synthetase deficiency	Holocarboxylase synthetase deficiency	Orphanet	79242	http://www.orpha.net/ORDO/Orphanet_79242
Pyruvate dehydrogenase E1-alpha deficiency	Pyruvate dehydrogenase E1-alpha deficiency	Orphanet	79243	http://www.orpha.net/ORDO/Orphanet_79243
Hyperinsulinism due to glucokinase deficiency	Hyperinsulinism due to glucokinase deficiency	Orphanet	79299	http://www.orpha.net/ORDO/Orphanet_79299
Diazoxide-resistant focal hyperinsulinism	Diazoxide-resistant focal hyperinsulinism	Orphanet	79298	http://www.orpha.net/ORDO/Orphanet_79298
Congenital bile acid synthesis defect type 1	Congenital bile acid synthesis defect type 1	Orphanet	79301	http://www.orpha.net/ORDO/Orphanet_79301
Niemann-Pick disease type D	Niemann-Pick disease type D	Orphanet	79289	http://www.orpha.net/ORDO/Orphanet_79289
Familial LCAT deficiency	Familial LCAT deficiency	Orphanet	79293	http://www.orpha.net/ORDO/Orphanet_79293
Fish-eye disease	Fish-eye disease	Orphanet	79292	http://www.orpha.net/ORDO/Orphanet_79292
Autosomal erythropoietic protoporphyria	Autosomal erythropoietic protoporphyria	Orphanet	79278	http://www.orpha.net/ORDO/Orphanet_79278
Alpha-N-acetylgalactosaminidase deficiency type 1	Alpha-N-acetylgalactosaminidase deficiency type 1	Orphanet	79279	http://www.orpha.net/ORDO/Orphanet_79279
Alpha-N-acetylgalactosaminidase deficiency type 2	Alpha-N-acetylgalactosaminidase deficiency type 2	Orphanet	79280	http://www.orpha.net/ORDO/Orphanet_79280
Alpha-N-acetylgalactosaminidase deficiency type 3	Alpha-N-acetylgalactosaminidase deficiency type 3	Orphanet	79281	http://www.orpha.net/ORDO/Orphanet_79281
Methylmalonic acidemia with homocystinuria, type cblC	Methylmalonic acidemia with homocystinuria, type cblC	Orphanet	79282	http://www.orpha.net/ORDO/Orphanet_79282
Methylmalonic acidemia with homocystinuria, type cblD	Methylmalonic acidemia with homocystinuria, type cblD	Orphanet	79283	http://www.orpha.net/ORDO/Orphanet_79283
Methylmalonic acidemia with homocystinuria type cblF	Methylmalonic acidemia with homocystinuria type cblF	Orphanet	79284	http://www.orpha.net/ORDO/Orphanet_79284
Sanfilippo syndrome type B	Sanfilippo syndrome type B	Orphanet	79270	http://www.orpha.net/ORDO/Orphanet_79270
Sanfilippo syndrome type C	Sanfilippo syndrome type C	Orphanet	79271	http://www.orpha.net/ORDO/Orphanet_79271
Sanfilippo syndrome type D	Sanfilippo syndrome type D	Orphanet	79272	http://www.orpha.net/ORDO/Orphanet_79272
Hereditary coproporphyria	Hereditary coproporphyria	Orphanet	79273	http://www.orpha.net/ORDO/Orphanet_79273
Acute intermittent porphyria	Acute intermittent porphyria	Orphanet	79276	http://www.orpha.net/ORDO/Orphanet_79276
Congenital erythropoietic porphyria	Congenital erythropoietic porphyria	Orphanet	79277	http://www.orpha.net/ORDO/Orphanet_79277
COG7-CDG	COG7-CDG	Orphanet	79333	http://www.orpha.net/ORDO/Orphanet_79333
B4GALT1-CDG	B4GALT1-CDG	Orphanet	79332	http://www.orpha.net/ORDO/Orphanet_79332
MOGS-CDG	MOGS-CDG	Orphanet	79330	http://www.orpha.net/ORDO/Orphanet_79330
MGAT2-CDG	MGAT2-CDG	Orphanet	79329	http://www.orpha.net/ORDO/Orphanet_79329
ALG9-CDG	ALG9-CDG	Orphanet	79328	http://www.orpha.net/ORDO/Orphanet_79328
ALG1-CDG	ALG1-CDG	Orphanet	79327	http://www.orpha.net/ORDO/Orphanet_79327
ALG2-CDG	ALG2-CDG	Orphanet	79326	http://www.orpha.net/ORDO/Orphanet_79326
ALG8-CDG	ALG8-CDG	Orphanet	79325	http://www.orpha.net/ORDO/Orphanet_79325
ALG12-CDG	ALG12-CDG	Orphanet	79324	http://www.orpha.net/ORDO/Orphanet_79324
MPDU1-CDG	MPDU1-CDG	Orphanet	79323	http://www.orpha.net/ORDO/Orphanet_79323
DPM1-CDG	DPM1-CDG	Orphanet	79322	http://www.orpha.net/ORDO/Orphanet_79322
ALG3-CDG	ALG3-CDG	Orphanet	79321	http://www.orpha.net/ORDO/Orphanet_79321
ALG6-CDG	ALG6-CDG	Orphanet	79320	http://www.orpha.net/ORDO/Orphanet_79320
MPI-CDG	MPI-CDG	Orphanet	79319	http://www.orpha.net/ORDO/Orphanet_79319
PMM2-CDG	PMM2-CDG	Orphanet	79318	http://www.orpha.net/ORDO/Orphanet_79318
L-2-hydroxyglutaric aciduria	L-2-hydroxyglutaric aciduria	Orphanet	79314	http://www.orpha.net/ORDO/Orphanet_79314
D-2-hydroxyglutaric aciduria	D-2-hydroxyglutaric aciduria	Orphanet	79315	http://www.orpha.net/ORDO/Orphanet_79315
Vitamin B12-unresponsive methylmalonic acidemia type mut-	Vitamin B12-unresponsive methylmalonic acidemia type mut-	Orphanet	79312	http://www.orpha.net/ORDO/Orphanet_79312
Vitamin B12-responsive methylmalonic acidemia type cblA	Vitamin B12-responsive methylmalonic acidemia type cblA	Orphanet	79310	http://www.orpha.net/ORDO/Orphanet_79310
Vitamin B12-responsive methylmalonic acidemia type cblB	Vitamin B12-responsive methylmalonic acidemia type cblB	Orphanet	79311	http://www.orpha.net/ORDO/Orphanet_79311
Progressive familial intrahepatic cholestasis type 1	Progressive familial intrahepatic cholestasis type 1	Orphanet	79306	http://www.orpha.net/ORDO/Orphanet_79306
Progressive familial intrahepatic cholestasis type 2	Progressive familial intrahepatic cholestasis type 2	Orphanet	79304	http://www.orpha.net/ORDO/Orphanet_79304
Progressive familial intrahepatic cholestasis type 3	Progressive familial intrahepatic cholestasis type 3	Orphanet	79305	http://www.orpha.net/ORDO/Orphanet_79305
Congenital bile acid synthesis defect type 3	Congenital bile acid synthesis defect type 3	Orphanet	79302	http://www.orpha.net/ORDO/Orphanet_79302
Congenital bile acid synthesis defect type 2	Congenital bile acid synthesis defect type 2	Orphanet	79303	http://www.orpha.net/ORDO/Orphanet_79303
Hair anomaly	Hair anomaly	Orphanet	79363	http://www.orpha.net/ORDO/Orphanet_79363
Epidermal appendage anomaly	Epidermal appendage anomaly	Orphanet	79362	http://www.orpha.net/ORDO/Orphanet_79362
Rare disorder with hypertrichosis	Rare disorder with hypertrichosis	Orphanet	79365	http://www.orpha.net/ORDO/Orphanet_79365
Alopecia	Alopecia	Orphanet	79364	http://www.orpha.net/ORDO/Orphanet_79364
Other epidermal disorder	Other epidermal disorder	Orphanet	79359	http://www.orpha.net/ORDO/Orphanet_79359
Porokeratosis	Porokeratosis	Orphanet	79358	http://www.orpha.net/ORDO/Orphanet_79358
Inherited epidermolysis bullosa	Inherited epidermolysis bullosa	Orphanet	79361	http://www.orpha.net/ORDO/Orphanet_79361
Other genetic epidermal disease	Other genetic epidermal disease	Orphanet	79360	http://www.orpha.net/ORDO/Orphanet_79360
Erythrokeratoderma	Erythrokeratoderma	Orphanet	79355	http://www.orpha.net/ORDO/Orphanet_79355
Ichthyosis	Ichthyosis	Orphanet	79354	http://www.orpha.net/ORDO/Orphanet_79354
Hereditary palmoplantar keratoderma	Hereditary palmoplantar keratoderma	Orphanet	79357	http://www.orpha.net/ORDO/Orphanet_79357
Acrokeratoderma	Acrokeratoderma	Orphanet	79356	http://www.orpha.net/ORDO/Orphanet_79356
3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	Orphanet	79351	http://www.orpha.net/ORDO/Orphanet_79351
3-phosphoserine phosphatase deficiency, infantile/juvenile form	3-phosphoserine phosphatase deficiency, infantile/juvenile form	Orphanet	79350	http://www.orpha.net/ORDO/Orphanet_79350
Epidermal disease	Epidermal disease	Orphanet	79353	http://www.orpha.net/ORDO/Orphanet_79353
Chondrodysplasia punctata, tibial-metacarpal type	Chondrodysplasia punctata, tibial-metacarpal type	Orphanet	79346	http://www.orpha.net/ORDO/Orphanet_79346
Chondrodysplasia punctata, Toriello type	Chondrodysplasia punctata, Toriello type	Orphanet	79347	http://www.orpha.net/ORDO/Orphanet_79347
Brachytelephalangic chondrodysplasia punctata	Brachytelephalangic chondrodysplasia punctata	Orphanet	79345	http://www.orpha.net/ORDO/Orphanet_79345
Singleton-Merten dysplasia	Singleton-Merten dysplasia	Orphanet	85191	http://www.orpha.net/ORDO/Orphanet_85191
Metaphyseal dysplasia, Braun-Tinschert type	Metaphyseal dysplasia, Braun-Tinschert type	Orphanet	85188	http://www.orpha.net/ORDO/Orphanet_85188
Idiopathic juvenile osteoporosis	Idiopathic juvenile osteoporosis	Orphanet	85193	http://www.orpha.net/ORDO/Orphanet_85193
Calvarial doughnut lesions-bone fragility syndrome	Calvarial doughnut lesions-bone fragility syndrome	Orphanet	85192	http://www.orpha.net/ORDO/Orphanet_85192
Familial expansile osteolysis	Familial expansile osteolysis	Orphanet	85195	http://www.orpha.net/ORDO/Orphanet_85195
Spondylo-ocular syndrome	Spondylo-ocular syndrome	Orphanet	85194	http://www.orpha.net/ORDO/Orphanet_85194
Genochondromatosis type 1	Genochondromatosis type 1	Orphanet	85197	http://www.orpha.net/ORDO/Orphanet_85197
Nodulosis-arthropathy-osteolysis syndrome	Nodulosis-arthropathy-osteolysis syndrome	Orphanet	85196	http://www.orpha.net/ORDO/Orphanet_85196
Craniosynostosis-anal anomalies-porokeratosis syndrome	Craniosynostosis-anal anomalies-porokeratosis syndrome	Orphanet	85199	http://www.orpha.net/ORDO/Orphanet_85199
Dysspondyloenchondromatosis	Dysspondyloenchondromatosis	Orphanet	85198	http://www.orpha.net/ORDO/Orphanet_85198
Genitopatellar syndrome	Genitopatellar syndrome	Orphanet	85201	http://www.orpha.net/ORDO/Orphanet_85201
Ischiovertebral syndrome	Ischiovertebral syndrome	Orphanet	85200	http://www.orpha.net/ORDO/Orphanet_85200
Acropectoral syndrome	Acropectoral syndrome	Orphanet	85203	http://www.orpha.net/ORDO/Orphanet_85203
Keutel syndrome	Keutel syndrome	Orphanet	85202	http://www.orpha.net/ORDO/Orphanet_85202
X-linked intellectual disability, Abidi type	X-linked intellectual disability, Abidi type	Orphanet	85273	http://www.orpha.net/ORDO/Orphanet_85273
Fetal Gaucher disease	Fetal Gaucher disease	Orphanet	85212	http://www.orpha.net/ORDO/Orphanet_85212
Syndromic X-linked intellectual disability 7	Syndromic X-linked intellectual disability 7	Orphanet	85274	http://www.orpha.net/ORDO/Orphanet_85274
Microphthalmia-ankyloblepharon-intellectual disability syndrome	Microphthalmia-ankyloblepharon-intellectual disability syndrome	Orphanet	85275	http://www.orpha.net/ORDO/Orphanet_85275
X-linked intellectual disability, Armfield type	X-linked intellectual disability, Armfield type	Orphanet	85276	http://www.orpha.net/ORDO/Orphanet_85276
X-linked intellectual disability, Cantagrel type	X-linked intellectual disability, Cantagrel type	Orphanet	85277	http://www.orpha.net/ORDO/Orphanet_85277
Christianson syndrome	Christianson syndrome	Orphanet	85278	http://www.orpha.net/ORDO/Orphanet_85278
Syndromic X-linked intellectual disability due to JARID1C mutation	Syndromic X-linked intellectual disability due to JARID1C mutation	Orphanet	85279	http://www.orpha.net/ORDO/Orphanet_85279
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome	X-linked intellectual disability-cubitus valgus-dysmorphism syndrome	Orphanet	85280	http://www.orpha.net/ORDO/Orphanet_85280
MECP2 duplication syndrome	MECP2 duplication syndrome	Orphanet	85281	http://www.orpha.net/ORDO/Orphanet_85281
MEHMO syndrome	MEHMO syndrome	Orphanet	85282	http://www.orpha.net/ORDO/Orphanet_85282
X-linked intellectual disability, Miles-Carpenter type	X-linked intellectual disability, Miles-Carpenter type	Orphanet	85283	http://www.orpha.net/ORDO/Orphanet_85283
BRESEK syndrome	BRESEK syndrome	Orphanet	85284	http://www.orpha.net/ORDO/Orphanet_85284
X-linked intellectual disability, Schimke type	X-linked intellectual disability, Schimke type	Orphanet	85285	http://www.orpha.net/ORDO/Orphanet_85285
X-linked intellectual disability, Shashi type	X-linked intellectual disability, Shashi type	Orphanet	85286	http://www.orpha.net/ORDO/Orphanet_85286
X-linked intellectual disability, Siderius type	X-linked intellectual disability, Siderius type	Orphanet	85287	http://www.orpha.net/ORDO/Orphanet_85287
X-linked intellectual disability, Stocco Dos Santos type	X-linked intellectual disability, Stocco Dos Santos type	Orphanet	85288	http://www.orpha.net/ORDO/Orphanet_85288
X-linked intellectual disability, Vitale type	X-linked intellectual disability, Vitale type	Orphanet	85289	http://www.orpha.net/ORDO/Orphanet_85289
X-linked intellectual disability, Cabezas type	X-linked intellectual disability, Cabezas type	Orphanet	85293	http://www.orpha.net/ORDO/Orphanet_85293
X-linked spinocerebellar ataxia type 4	X-linked spinocerebellar ataxia type 4	Orphanet	85292	http://www.orpha.net/ORDO/Orphanet_85292
X-linked intellectual disability, Wittwer type	X-linked intellectual disability, Wittwer type	Orphanet	85291	http://www.orpha.net/ORDO/Orphanet_85291
X-linked intellectual disability, Wilson type	X-linked intellectual disability, Wilson type	Orphanet	85290	http://www.orpha.net/ORDO/Orphanet_85290
X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome	X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome	Orphanet	85317	http://www.orpha.net/ORDO/Orphanet_85317
X-linked spinocerebellar ataxia type 3	X-linked spinocerebellar ataxia type 3	Orphanet	85297	http://www.orpha.net/ORDO/Orphanet_85297
HSD10 disease, atypical type	HSD10 disease, atypical type	Orphanet	85295	http://www.orpha.net/ORDO/Orphanet_85295
X-linked epilepsy-learning disabilities-behavior disorders syndrome	X-linked epilepsy-learning disabilities-behavior disorders syndrome	Orphanet	85294	http://www.orpha.net/ORDO/Orphanet_85294
Deafness-intellectual disability syndrome, Martin-Probst type	Deafness-intellectual disability syndrome, Martin-Probst type	Orphanet	85321	http://www.orpha.net/ORDO/Orphanet_85321
X-linked intellectual disability-macrocephaly-macroorchidism syndrome	X-linked intellectual disability-macrocephaly-macroorchidism syndrome	Orphanet	85320	http://www.orpha.net/ORDO/Orphanet_85320
X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome	X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome	Orphanet	85319	http://www.orpha.net/ORDO/Orphanet_85319
X-linked intellectual disability, Stevenson type	X-linked intellectual disability, Stevenson type	Orphanet	85325	http://www.orpha.net/ORDO/Orphanet_85325
X-linked intellectual disability, Shrimpton type	X-linked intellectual disability, Shrimpton type	Orphanet	85324	http://www.orpha.net/ORDO/Orphanet_85324
X-linked intellectual disability, Seemanova type	X-linked intellectual disability, Seemanova type	Orphanet	85323	http://www.orpha.net/ORDO/Orphanet_85323
X-linked intellectual disability, Pai type	X-linked intellectual disability, Pai type	Orphanet	85322	http://www.orpha.net/ORDO/Orphanet_85322
X-linked intellectual disability, Turner type	X-linked intellectual disability, Turner type	Orphanet	85328	http://www.orpha.net/ORDO/Orphanet_85328
X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome	Orphanet	85329	http://www.orpha.net/ORDO/Orphanet_85329
X-linked intellectual disability, Stoll type	X-linked intellectual disability, Stoll type	Orphanet	85326	http://www.orpha.net/ORDO/Orphanet_85326
X-linked intellectual disability-acromegaly-hyperactivity syndrome	X-linked intellectual disability-acromegaly-hyperactivity syndrome	Orphanet	85327	http://www.orpha.net/ORDO/Orphanet_85327
X-linked intellectual disability-retinitis pigmentosa syndrome	X-linked intellectual disability-retinitis pigmentosa syndrome	Orphanet	85332	http://www.orpha.net/ORDO/Orphanet_85332
X-linked intellectual disability-spastic paraplegia with iron deposits syndrome	X-linked intellectual disability-spastic paraplegia with iron deposits syndrome	Orphanet	85333	http://www.orpha.net/ORDO/Orphanet_85333
X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome	X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome	Orphanet	85330	http://www.orpha.net/ORDO/Orphanet_85330
X-linked neurodegenerative syndrome, Hamel type	X-linked neurodegenerative syndrome, Hamel type	Orphanet	85336	http://www.orpha.net/ORDO/Orphanet_85336
X-linked intellectual disability, Zorick type	X-linked intellectual disability, Zorick type	Orphanet	85337	http://www.orpha.net/ORDO/Orphanet_85337
X-linked neurodegenerative syndrome, Bertini type	X-linked neurodegenerative syndrome, Bertini type	Orphanet	85334	http://www.orpha.net/ORDO/Orphanet_85334
Fried syndrome	Fried syndrome	Orphanet	85335	http://www.orpha.net/ORDO/Orphanet_85335
Oligoarticular juvenile idiopathic arthritis	Oligoarticular juvenile idiopathic arthritis	Orphanet	85410	http://www.orpha.net/ORDO/Orphanet_85410
Systemic-onset juvenile idiopathic arthritis	Systemic-onset juvenile idiopathic arthritis	Orphanet	85414	http://www.orpha.net/ORDO/Orphanet_85414
X-linked intellectual disability-ataxia-apraxia syndrome	X-linked intellectual disability-ataxia-apraxia syndrome	Orphanet	85338	http://www.orpha.net/ORDO/Orphanet_85338
Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	Orphanet	85408	http://www.orpha.net/ORDO/Orphanet_85408
AL amyloidosis	AL amyloidosis	Orphanet	85443	http://www.orpha.net/ORDO/Orphanet_85443
Short stature-pituitary and cerebellar defects-small sella turcica syndrome	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	Orphanet	85442	http://www.orpha.net/ORDO/Orphanet_85442
Wild type ABeta2M amyloidosis	Wild type ABeta2M amyloidosis	Orphanet	85446	http://www.orpha.net/ORDO/Orphanet_85446
AA amyloidosis	AA amyloidosis	Orphanet	85445	http://www.orpha.net/ORDO/Orphanet_85445
Psoriasis-related juvenile idiopathic arthritis	Psoriasis-related juvenile idiopathic arthritis	Orphanet	85436	http://www.orpha.net/ORDO/Orphanet_85436
Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis	Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis	Orphanet	85435	http://www.orpha.net/ORDO/Orphanet_85435
Enthesitis-related juvenile idiopathic arthritis	Enthesitis-related juvenile idiopathic arthritis	Orphanet	85438	http://www.orpha.net/ORDO/Orphanet_85438
Hereditary cerebral hemorrhage with amyloidosis	Hereditary cerebral hemorrhage with amyloidosis	Orphanet	85458	http://www.orpha.net/ORDO/Orphanet_85458
X-linked reticulate pigmentary disorder	X-linked reticulate pigmentary disorder	Orphanet	85453	http://www.orpha.net/ORDO/Orphanet_85453
X-linked severe congenital neutropenia	X-linked severe congenital neutropenia	Orphanet	86788	http://www.orpha.net/ORDO/Orphanet_86788
DPAGT1-CDG	DPAGT1-CDG	Orphanet	86309	http://www.orpha.net/ORDO/Orphanet_86309
AGel amyloidosis	AGel amyloidosis	Orphanet	85448	http://www.orpha.net/ORDO/Orphanet_85448
ATTRV30M amyloidosis	ATTRV30M amyloidosis	Orphanet	85447	http://www.orpha.net/ORDO/Orphanet_85447
ATTRV122I amyloidosis	ATTRV122I amyloidosis	Orphanet	85451	http://www.orpha.net/ORDO/Orphanet_85451
Hereditary amyloidosis with primary renal involvement	Hereditary amyloidosis with primary renal involvement	Orphanet	85450	http://www.orpha.net/ORDO/Orphanet_85450
POMT1-related  limb-girdle muscular dystrophy R11	POMT1-related  limb-girdle muscular dystrophy R11	Orphanet	86812	http://www.orpha.net/ORDO/Orphanet_86812
Helicoid peripapillary chorioretinal degeneration	Helicoid peripapillary chorioretinal degeneration	Orphanet	86813	http://www.orpha.net/ORDO/Orphanet_86813
Benign adult familial myoclonic epilepsy	Benign adult familial myoclonic epilepsy	Orphanet	86814	http://www.orpha.net/ORDO/Orphanet_86814
Aplasia of lacrimal and salivary glands	Aplasia of lacrimal and salivary glands	Orphanet	86815	http://www.orpha.net/ORDO/Orphanet_86815
Patella aplasia/hypoplasia	Patella aplasia/hypoplasia	Orphanet	86789	http://www.orpha.net/ORDO/Orphanet_86789
Localized lichen myxedematosus	Localized lichen myxedematosus	Orphanet	86795	http://www.orpha.net/ORDO/Orphanet_86795
Atypical lichen myxedematosus	Atypical lichen myxedematosus	Orphanet	86797	http://www.orpha.net/ORDO/Orphanet_86797
Familial avascular necrosis of femoral head	Familial avascular necrosis of femoral head	Orphanet	86820	http://www.orpha.net/ORDO/Orphanet_86820
Lissencephaly type 3-familial fetal akinesia sequence syndrome	Lissencephaly type 3-familial fetal akinesia sequence syndrome	Orphanet	86821	http://www.orpha.net/ORDO/Orphanet_86821
Lissencephaly type 3-metacarpal bone dysplasia syndrome	Lissencephaly type 3-metacarpal bone dysplasia syndrome	Orphanet	86822	http://www.orpha.net/ORDO/Orphanet_86822
Lissencephaly with cerebellar hypoplasia	Lissencephaly with cerebellar hypoplasia	Orphanet	86823	http://www.orpha.net/ORDO/Orphanet_86823
Congenital analbuminemia	Congenital analbuminemia	Orphanet	86816	http://www.orpha.net/ORDO/Orphanet_86816
Chronic lymphoproliferative disorder of natural killer cells	Chronic lymphoproliferative disorder of natural killer cells	Orphanet	512017	http://www.orpha.net/ORDO/Orphanet_512017
Hemolytic anemia due to adenylate kinase deficiency	Hemolytic anemia due to adenylate kinase deficiency	Orphanet	86817	http://www.orpha.net/ORDO/Orphanet_86817
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	Orphanet	86818	http://www.orpha.net/ORDO/Orphanet_86818
Atrichia with papular lesions	Atrichia with papular lesions	Orphanet	86819	http://www.orpha.net/ORDO/Orphanet_86819
Large granular lymphocyte leukemia	Large granular lymphocyte leukemia	Orphanet	512034	http://www.orpha.net/ORDO/Orphanet_512034
Acute panmyelosis with myelofibrosis	Acute panmyelosis with myelofibrosis	Orphanet	86843	http://www.orpha.net/ORDO/Orphanet_86843
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	Orphanet	86841	http://www.orpha.net/ORDO/Orphanet_86841
Refractory anemia with excess blasts	Refractory anemia with excess blasts	Orphanet	86839	http://www.orpha.net/ORDO/Orphanet_86839
Refractory cytopenia with multilineage dysplasia	Refractory cytopenia with multilineage dysplasia	Orphanet	86836	http://www.orpha.net/ORDO/Orphanet_86836
Autosomal recessive epidermolytic ichthyosis	Autosomal recessive epidermolytic ichthyosis	Orphanet	512103	http://www.orpha.net/ORDO/Orphanet_512103
Juvenile myelomonocytic leukemia	Juvenile myelomonocytic leukemia	Orphanet	86834	http://www.orpha.net/ORDO/Orphanet_86834
Chronic myeloproliferative disease, unclassifiable	Chronic myeloproliferative disease, unclassifiable	Orphanet	86830	http://www.orpha.net/ORDO/Orphanet_86830
Chronic neutrophilic leukemia	Chronic neutrophilic leukemia	Orphanet	86829	http://www.orpha.net/ORDO/Orphanet_86829
Plasmacytoma	Plasmacytoma	Orphanet	86855	http://www.orpha.net/ORDO/Orphanet_86855
Congenital cerebellar ataxia due to RNU12 mutation	Congenital cerebellar ataxia due to RNU12 mutation	Orphanet	512260	http://www.orpha.net/ORDO/Orphanet_512260
Splenic marginal zone lymphoma	Splenic marginal zone lymphoma	Orphanet	86854	http://www.orpha.net/ORDO/Orphanet_86854
B-cell prolymphocytic leukemia	B-cell prolymphocytic leukemia	Orphanet	86852	http://www.orpha.net/ORDO/Orphanet_86852
Acute leukemia of ambiguous lineage	Acute leukemia of ambiguous lineage	Orphanet	86851	http://www.orpha.net/ORDO/Orphanet_86851
Myeloid sarcoma	Myeloid sarcoma	Orphanet	86850	http://www.orpha.net/ORDO/Orphanet_86850
Acute basophilic leukemia	Acute basophilic leukemia	Orphanet	86849	http://www.orpha.net/ORDO/Orphanet_86849
Therapy related acute myeloid leukemia and myelodysplastic syndrome	Therapy related acute myeloid leukemia and myelodysplastic syndrome	Orphanet	86846	http://www.orpha.net/ORDO/Orphanet_86846
Acute myeloid leukaemia with myelodysplasia-related features	Acute myeloid leukaemia with myelodysplasia-related features	Orphanet	86845	http://www.orpha.net/ORDO/Orphanet_86845
T-cell large granular lymphocyte leukemia	T-cell large granular lymphocyte leukemia	Orphanet	86872	http://www.orpha.net/ORDO/Orphanet_86872
Aggressive NK-cell leukemia	Aggressive NK-cell leukemia	Orphanet	86873	http://www.orpha.net/ORDO/Orphanet_86873
CD4+/CD56+ hematodermic neoplasm	CD4+/CD56+ hematodermic neoplasm	Orphanet	86870	http://www.orpha.net/ORDO/Orphanet_86870
T-cell prolymphocytic leukemia	T-cell prolymphocytic leukemia	Orphanet	86871	http://www.orpha.net/ORDO/Orphanet_86871
Nodal marginal zone B-cell lymphoma	Nodal marginal zone B-cell lymphoma	Orphanet	86867	http://www.orpha.net/ORDO/Orphanet_86867
Lymphomatoid granulomatosis	Lymphomatoid granulomatosis	Orphanet	86869	http://www.orpha.net/ORDO/Orphanet_86869
Non-amyloid monoclonal immunoglobulin deposition disease	Non-amyloid monoclonal immunoglobulin deposition disease	Orphanet	86861	http://www.orpha.net/ORDO/Orphanet_86861
Heavy chain disease	Heavy chain disease	Orphanet	86864	http://www.orpha.net/ORDO/Orphanet_86864
Angioimmunoblastic T-cell lymphoma	Angioimmunoblastic T-cell lymphoma	Orphanet	86886	http://www.orpha.net/ORDO/Orphanet_86886
Nodular lymphocyte predominant Hodgkin lymphoma	Nodular lymphocyte predominant Hodgkin lymphoma	Orphanet	86893	http://www.orpha.net/ORDO/Orphanet_86893
Subcutaneous panniculitis-like T-cell lymphoma	Subcutaneous panniculitis-like T-cell lymphoma	Orphanet	86884	http://www.orpha.net/ORDO/Orphanet_86884
Primary cutaneous peripheral T-cell lymphoma not otherwise specified	Primary cutaneous peripheral T-cell lymphoma not otherwise specified	Orphanet	86885	http://www.orpha.net/ORDO/Orphanet_86885
Enteropathy-associated T-cell lymphoma	Enteropathy-associated T-cell lymphoma	Orphanet	86880	http://www.orpha.net/ORDO/Orphanet_86880
Hepatosplenic T-cell lymphoma	Hepatosplenic T-cell lymphoma	Orphanet	86882	http://www.orpha.net/ORDO/Orphanet_86882
Adult T-cell leukemia/lymphoma	Adult T-cell leukemia/lymphoma	Orphanet	86875	http://www.orpha.net/ORDO/Orphanet_86875
Extranodal nasal NK/T cell lymphoma	Extranodal nasal NK/T cell lymphoma	Orphanet	86879	http://www.orpha.net/ORDO/Orphanet_86879
Punctate palmoplantar keratoderma type 2	Punctate palmoplantar keratoderma type 2	Orphanet	79502	http://www.orpha.net/ORDO/Orphanet_79502
Ichthyosis hystrix of Curth-Macklin	Ichthyosis hystrix of Curth-Macklin	Orphanet	79503	http://www.orpha.net/ORDO/Orphanet_79503
Ichthyosis hystrix gravior	Ichthyosis hystrix gravior	Orphanet	79504	http://www.orpha.net/ORDO/Orphanet_79504
Cholesterol-ester transfer protein deficiency	Cholesterol-ester transfer protein deficiency	Orphanet	79506	http://www.orpha.net/ORDO/Orphanet_79506
Hypotonia-failure to thrive-microcephaly syndrome	Hypotonia-failure to thrive-microcephaly syndrome	Orphanet	79507	http://www.orpha.net/ORDO/Orphanet_79507
X-linked congenital generalized hypertrichosis	X-linked congenital generalized hypertrichosis	Orphanet	79495	http://www.orpha.net/ORDO/Orphanet_79495
Autosomal dominant deafness-onychodystrophy syndrome	Autosomal dominant deafness-onychodystrophy syndrome	Orphanet	79499	http://www.orpha.net/ORDO/Orphanet_79499
DOORS syndrome	DOORS syndrome	Orphanet	79500	http://www.orpha.net/ORDO/Orphanet_79500
Punctate palmoplantar keratoderma type 1	Punctate palmoplantar keratoderma type 1	Orphanet	79501	http://www.orpha.net/ORDO/Orphanet_79501
Autoimmune bullous skin disease	Autoimmune bullous skin disease	Orphanet	79669	http://www.orpha.net/ORDO/Orphanet_79669
Gardner syndrome	Gardner syndrome	Orphanet	79665	http://www.orpha.net/ORDO/Orphanet_79665
Ehlers-Danlos syndrome with periventricular heterotopia	Ehlers-Danlos syndrome with periventricular heterotopia	Orphanet	82004	http://www.orpha.net/ORDO/Orphanet_82004
Urogenital tract malformation	Urogenital tract malformation	Orphanet	83001	http://www.orpha.net/ORDO/Orphanet_83001
Autosomal recessive hyperinsulinism due to SUR1 deficiency	Autosomal recessive hyperinsulinism due to SUR1 deficiency	Orphanet	79643	http://www.orpha.net/ORDO/Orphanet_79643
Mild hyperphenylalaninemia	Mild hyperphenylalaninemia	Orphanet	79651	http://www.orpha.net/ORDO/Orphanet_79651
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency	Orphanet	79644	http://www.orpha.net/ORDO/Orphanet_79644
Scrub typhus	Scrub typhus	Orphanet	83317	http://www.orpha.net/ORDO/Orphanet_83317
Proximal spinal muscular atrophy type 1	Proximal spinal muscular atrophy type 1	Orphanet	83330	http://www.orpha.net/ORDO/Orphanet_83330
Murine typhus	Murine typhus	Orphanet	83315	http://www.orpha.net/ORDO/Orphanet_83315
Pseudotyphus of California	Pseudotyphus of California	Orphanet	83316	http://www.orpha.net/ORDO/Orphanet_83316
Proximal spinal muscular atrophy type 3	Proximal spinal muscular atrophy type 3	Orphanet	83419	http://www.orpha.net/ORDO/Orphanet_83419
Proximal spinal muscular atrophy type 4	Proximal spinal muscular atrophy type 4	Orphanet	83420	http://www.orpha.net/ORDO/Orphanet_83420
Proximal spinal muscular atrophy type 2	Proximal spinal muscular atrophy type 2	Orphanet	83418	http://www.orpha.net/ORDO/Orphanet_83418
Boutonneuse fever	Boutonneuse fever	Orphanet	83313	http://www.orpha.net/ORDO/Orphanet_83313
Epidemic typhus	Epidemic typhus	Orphanet	83314	http://www.orpha.net/ORDO/Orphanet_83314
Rocky Mountain spotted fever	Rocky Mountain spotted fever	Orphanet	83311	http://www.orpha.net/ORDO/Orphanet_83311
Rickettsialpox	Rickettsialpox	Orphanet	83312	http://www.orpha.net/ORDO/Orphanet_83312
Desmoplastic small round cell tumor	Desmoplastic small round cell tumor	Orphanet	83469	http://www.orpha.net/ORDO/Orphanet_83469
Solitary bone cyst	Solitary bone cyst	Orphanet	83468	http://www.orpha.net/ORDO/Orphanet_83468
Morvan syndrome	Morvan syndrome	Orphanet	83467	http://www.orpha.net/ORDO/Orphanet_83467
Narcolepsy type 2	Narcolepsy type 2	Orphanet	83465	http://www.orpha.net/ORDO/Orphanet_83465
West-Nile encephalitis	West-Nile encephalitis	Orphanet	83476	http://www.orpha.net/ORDO/Orphanet_83476
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	Orphanet	83473	http://www.orpha.net/ORDO/Orphanet_83473
CAMOS syndrome	CAMOS syndrome	Orphanet	83472	http://www.orpha.net/ORDO/Orphanet_83472
Thymic aplasia	Thymic aplasia	Orphanet	83471	http://www.orpha.net/ORDO/Orphanet_83471
Complex regional pain syndrome	Complex regional pain syndrome	Orphanet	83452	http://www.orpha.net/ORDO/Orphanet_83452
Florid cemento-osseous dysplasia	Florid cemento-osseous dysplasia	Orphanet	83451	http://www.orpha.net/ORDO/Orphanet_83451
Regional odontodysplasia	Regional odontodysplasia	Orphanet	83450	http://www.orpha.net/ORDO/Orphanet_83450
NON RARE IN EUROPE: Inappropriate antidiuretic hormone secretion syndrome	NON RARE IN EUROPE: Inappropriate antidiuretic hormone secretion syndrome	Orphanet	83449	http://www.orpha.net/ORDO/Orphanet_83449
Microtia	Microtia	Orphanet	83463	http://www.orpha.net/ORDO/Orphanet_83463
Congenital primary aphakia	Congenital primary aphakia	Orphanet	83461	http://www.orpha.net/ORDO/Orphanet_83461
Glomuvenous malformation	Glomuvenous malformation	Orphanet	83454	http://www.orpha.net/ORDO/Orphanet_83454
Vulvovaginal gingival syndrome	Vulvovaginal gingival syndrome	Orphanet	83453	http://www.orpha.net/ORDO/Orphanet_83453
Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome	Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome	Orphanet	514352	http://www.orpha.net/ORDO/Orphanet_514352
Severe dilated cardiomyopathy due to lamin A/C mutation	Severe dilated cardiomyopathy due to lamin A/C mutation	Orphanet	83618	http://www.orpha.net/ORDO/Orphanet_83618
Macrostomia-preauricular tags-external ophthalmoplegia syndrome	Macrostomia-preauricular tags-external ophthalmoplegia syndrome	Orphanet	83619	http://www.orpha.net/ORDO/Orphanet_83619
Enteric anendocrinosis	Enteric anendocrinosis	Orphanet	83620	http://www.orpha.net/ORDO/Orphanet_83620
LUMBAR syndrome	LUMBAR syndrome	Orphanet	83628	http://www.orpha.net/ORDO/Orphanet_83628
Steroid-responsive encephalopathy associated with autoimmune thyroiditis	Steroid-responsive encephalopathy associated with autoimmune thyroiditis	Orphanet	83601	http://www.orpha.net/ORDO/Orphanet_83601
Rubella panencephalitis	Rubella panencephalitis	Orphanet	83616	http://www.orpha.net/ORDO/Orphanet_83616
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome	Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome	Orphanet	83617	http://www.orpha.net/ORDO/Orphanet_83617
Eastern equine encephalitis	Eastern equine encephalitis	Orphanet	83594	http://www.orpha.net/ORDO/Orphanet_83594
Colorado tick fever	Colorado tick fever	Orphanet	83595	http://www.orpha.net/ORDO/Orphanet_83595
Acute disseminated encephalomyelitis	Acute disseminated encephalomyelitis	Orphanet	83597	http://www.orpha.net/ORDO/Orphanet_83597
Encephalitis lethargica	Encephalitis lethargica	Orphanet	83600	http://www.orpha.net/ORDO/Orphanet_83600
Mycoplasma encephalitis	Mycoplasma encephalitis	Orphanet	83482	http://www.orpha.net/ORDO/Orphanet_83482
La Crosse encephalitis	La Crosse encephalitis	Orphanet	83483	http://www.orpha.net/ORDO/Orphanet_83483
St. Louis encephalitis	St. Louis encephalitis	Orphanet	83484	http://www.orpha.net/ORDO/Orphanet_83484
Western equine encephalitis	Western equine encephalitis	Orphanet	83593	http://www.orpha.net/ORDO/Orphanet_83593
Hinman syndrome	Hinman syndrome	Orphanet	84085	http://www.orpha.net/ORDO/Orphanet_84085
Senior-Boichis syndrome	Senior-Boichis syndrome	Orphanet	84081	http://www.orpha.net/ORDO/Orphanet_84081
Fibronectin glomerulopathy	Fibronectin glomerulopathy	Orphanet	84090	http://www.orpha.net/ORDO/Orphanet_84090
Collagen type III glomerulopathy	Collagen type III glomerulopathy	Orphanet	84087	http://www.orpha.net/ORDO/Orphanet_84087
Syndromic diarrhea	Syndromic diarrhea	Orphanet	84064	http://www.orpha.net/ORDO/Orphanet_84064
Idiopathic malabsorption due to bile acid synthesis defects	Idiopathic malabsorption due to bile acid synthesis defects	Orphanet	84065	http://www.orpha.net/ORDO/Orphanet_84065
Autosomal recessive spastic paraplegia type 78	Autosomal recessive spastic paraplegia type 78	Orphanet	513436	http://www.orpha.net/ORDO/Orphanet_513436
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	Orphanet	83639	http://www.orpha.net/ORDO/Orphanet_83639
Leukoencephalopathy-spondylometaphyseal dysplasia syndrome	Leukoencephalopathy-spondylometaphyseal dysplasia syndrome	Orphanet	83629	http://www.orpha.net/ORDO/Orphanet_83629
Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	Orphanet	513456	http://www.orpha.net/ORDO/Orphanet_513456
Microcytic anemia with liver iron overload	Microcytic anemia with liver iron overload	Orphanet	83642	http://www.orpha.net/ORDO/Orphanet_83642
Hypomyelination-congenital cataract syndrome	Hypomyelination-congenital cataract syndrome	Orphanet	85163	http://www.orpha.net/ORDO/Orphanet_85163
Camptodactyly-tall stature-scoliosis-hearing loss syndrome	Camptodactyly-tall stature-scoliosis-hearing loss syndrome	Orphanet	85164	http://www.orpha.net/ORDO/Orphanet_85164
Neurogenic scapuloperoneal syndrome, Kaeser type	Neurogenic scapuloperoneal syndrome, Kaeser type	Orphanet	85146	http://www.orpha.net/ORDO/Orphanet_85146
Facial onset sensory and motor neuronopathy	Facial onset sensory and motor neuronopathy	Orphanet	85162	http://www.orpha.net/ORDO/Orphanet_85162
Addison disease	Addison disease	Orphanet	85138	http://www.orpha.net/ORDO/Orphanet_85138
NON RARE IN EUROPE: Aldosterone-producing adenoma	NON RARE IN EUROPE: Aldosterone-producing adenoma	Orphanet	85142	http://www.orpha.net/ORDO/Orphanet_85142
Bothnia retinal dystrophy	Bothnia retinal dystrophy	Orphanet	85128	http://www.orpha.net/ORDO/Orphanet_85128
Cystic leukoencephalopathy without megalencephaly	Cystic leukoencephalopathy without megalencephaly	Orphanet	85136	http://www.orpha.net/ORDO/Orphanet_85136
Familial encephalopathy with neuroserpin inclusion bodies	Familial encephalopathy with neuroserpin inclusion bodies	Orphanet	85110	http://www.orpha.net/ORDO/Orphanet_85110
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome	Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome	Orphanet	85112	http://www.orpha.net/ORDO/Orphanet_85112
Sporadic idiopathic steroid-resistant nephrotic syndrome	Sporadic idiopathic steroid-resistant nephrotic syndrome	Orphanet	84271	http://www.orpha.net/ORDO/Orphanet_84271
Perineurioma	Perineurioma	Orphanet	85102	http://www.orpha.net/ORDO/Orphanet_85102
Desmin-related myopathy with Mallory body-like inclusions	Desmin-related myopathy with Mallory body-like inclusions	Orphanet	84132	http://www.orpha.net/ORDO/Orphanet_84132
Isaac syndrome	Isaac syndrome	Orphanet	84142	http://www.orpha.net/ORDO/Orphanet_84142
Hereditary thermosensitive neuropathy	Hereditary thermosensitive neuropathy	Orphanet	84093	http://www.orpha.net/ORDO/Orphanet_84093
Endosteal sclerosis-cerebellar hypoplasia syndrome	Endosteal sclerosis-cerebellar hypoplasia syndrome	Orphanet	85186	http://www.orpha.net/ORDO/Orphanet_85186
Craniometadiaphyseal dysplasia, wormian bone type	Craniometadiaphyseal dysplasia, wormian bone type	Orphanet	85184	http://www.orpha.net/ORDO/Orphanet_85184
Diaphyseal medullary stenosis-bone malignancy syndrome	Diaphyseal medullary stenosis-bone malignancy syndrome	Orphanet	85182	http://www.orpha.net/ORDO/Orphanet_85182
Infantile osteopetrosis with neuroaxonal dysplasia	Infantile osteopetrosis with neuroaxonal dysplasia	Orphanet	85179	http://www.orpha.net/ORDO/Orphanet_85179
Astley-Kendall dysplasia	Astley-Kendall dysplasia	Orphanet	85175	http://www.orpha.net/ORDO/Orphanet_85175
Pseudodiastrophic dysplasia	Pseudodiastrophic dysplasia	Orphanet	85174	http://www.orpha.net/ORDO/Orphanet_85174
IMAGe syndrome	IMAGe syndrome	Orphanet	85173	http://www.orpha.net/ORDO/Orphanet_85173
Microcephalic osteodysplastic dysplasia, Saul-Wilson type	Microcephalic osteodysplastic dysplasia, Saul-Wilson type	Orphanet	85172	http://www.orpha.net/ORDO/Orphanet_85172
Mesomelic dysplasia, Savarirayan type	Mesomelic dysplasia, Savarirayan type	Orphanet	85170	http://www.orpha.net/ORDO/Orphanet_85170
Familial digital arthropathy-brachydactyly	Familial digital arthropathy-brachydactyly	Orphanet	85169	http://www.orpha.net/ORDO/Orphanet_85169
Craniofacial conodysplasia	Craniofacial conodysplasia	Orphanet	85168	http://www.orpha.net/ORDO/Orphanet_85168
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	Orphanet	85167	http://www.orpha.net/ORDO/Orphanet_85167
Platyspondylic dysplasia, Torrance type	Platyspondylic dysplasia, Torrance type	Orphanet	85166	http://www.orpha.net/ORDO/Orphanet_85166
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome	Orphanet	85165	http://www.orpha.net/ORDO/Orphanet_85165
Autosomal anomaly	Autosomal anomaly	Orphanet	98127	http://www.orpha.net/ORDO/Orphanet_98127
Autosomal trisomy	Autosomal trisomy	Orphanet	98130	http://www.orpha.net/ORDO/Orphanet_98130
Total autosomal trisomy	Total autosomal trisomy	Orphanet	98131	http://www.orpha.net/ORDO/Orphanet_98131
Partial autosomal trisomy/tetrasomy	Partial autosomal trisomy/tetrasomy	Orphanet	98132	http://www.orpha.net/ORDO/Orphanet_98132
Autosomal uniparental disomy	Autosomal uniparental disomy	Orphanet	98152	http://www.orpha.net/ORDO/Orphanet_98152
Maternal uniparental disomy	Maternal uniparental disomy	Orphanet	98153	http://www.orpha.net/ORDO/Orphanet_98153
Sex-chromosome number anomaly	Sex-chromosome number anomaly	Orphanet	98156	http://www.orpha.net/ORDO/Orphanet_98156
Sex-chromosome structural anomaly	Sex-chromosome structural anomaly	Orphanet	98157	http://www.orpha.net/ORDO/Orphanet_98157
Paternal uniparental disomy	Paternal uniparental disomy	Orphanet	98154	http://www.orpha.net/ORDO/Orphanet_98154
Sex-chromosome anomaly	Sex-chromosome anomaly	Orphanet	98155	http://www.orpha.net/ORDO/Orphanet_98155
Chromosome Y structural anomaly	Chromosome Y structural anomaly	Orphanet	98158	http://www.orpha.net/ORDO/Orphanet_98158
Chromosome X structural anomaly	Chromosome X structural anomaly	Orphanet	98159	http://www.orpha.net/ORDO/Orphanet_98159
Total autosomal monosomy	Total autosomal monosomy	Orphanet	98141	http://www.orpha.net/ORDO/Orphanet_98141
Partial autosomal monosomy	Partial autosomal monosomy	Orphanet	98142	http://www.orpha.net/ORDO/Orphanet_98142
Rare urinary tract tumor	Rare urinary tract tumor	Orphanet	98058	http://www.orpha.net/ORDO/Orphanet_98058
Rare digestive tumor	Rare digestive tumor	Orphanet	98059	http://www.orpha.net/ORDO/Orphanet_98059
Rare respiratory tumor	Rare respiratory tumor	Orphanet	98060	http://www.orpha.net/ORDO/Orphanet_98060
Rare otorhinolaryngologic tumor	Rare otorhinolaryngologic tumor	Orphanet	98061	http://www.orpha.net/ORDO/Orphanet_98061
Rare genetic cardiac disease	Rare genetic cardiac disease	Orphanet	98054	http://www.orpha.net/ORDO/Orphanet_98054
Rare genetic renal disease	Rare genetic renal disease	Orphanet	98056	http://www.orpha.net/ORDO/Orphanet_98056
Rare tumor	Rare tumor	Orphanet	98057	http://www.orpha.net/ORDO/Orphanet_98057
Rare nervous system tumor	Rare nervous system tumor	Orphanet	98062	http://www.orpha.net/ORDO/Orphanet_98062
Rare gynecological tumor	Rare gynecological tumor	Orphanet	98063	http://www.orpha.net/ORDO/Orphanet_98063
Diaphragmatic or abdominal wall malformation	Diaphragmatic or abdominal wall malformation	Orphanet	98043	http://www.orpha.net/ORDO/Orphanet_98043
Respiratory or mediastinal malformation	Respiratory or mediastinal malformation	Orphanet	98045	http://www.orpha.net/ORDO/Orphanet_98045
Central nervous system malformation	Central nervous system malformation	Orphanet	98044	http://www.orpha.net/ORDO/Orphanet_98044
Digestive tract malformation	Digestive tract malformation	Orphanet	98039	http://www.orpha.net/ORDO/Orphanet_98039
Cranial malformation	Cranial malformation	Orphanet	98038	http://www.orpha.net/ORDO/Orphanet_98038
Visceral malformation of the liver, biliary tract, pancreas or spleen	Visceral malformation of the liver, biliary tract, pancreas or spleen	Orphanet	98041	http://www.orpha.net/ORDO/Orphanet_98041
Rare allergic disease	Rare allergic disease	Orphanet	98050	http://www.orpha.net/ORDO/Orphanet_98050
Rare genetic disease	Rare genetic disease	Orphanet	98053	http://www.orpha.net/ORDO/Orphanet_98053
Rare allergic respiratory disease	Rare allergic respiratory disease	Orphanet	98052	http://www.orpha.net/ORDO/Orphanet_98052
Rare infertility	Rare infertility	Orphanet	98047	http://www.orpha.net/ORDO/Orphanet_98047
Rare female infertility	Rare female infertility	Orphanet	98049	http://www.orpha.net/ORDO/Orphanet_98049
Rare male infertility	Rare male infertility	Orphanet	98048	http://www.orpha.net/ORDO/Orphanet_98048
46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue	46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue	Orphanet	98086	http://www.orpha.net/ORDO/Orphanet_98086
Syndrome with 46,XY disorder of sex development	Syndrome with 46,XY disorder of sex development	Orphanet	98087	http://www.orpha.net/ORDO/Orphanet_98087
Autosomal recessive degenerative and progressive cerebellar ataxia	Autosomal recessive degenerative and progressive cerebellar ataxia	Orphanet	98098	http://www.orpha.net/ORDO/Orphanet_98098
Autosomal recessive syndromic cerebellar ataxia	Autosomal recessive syndromic cerebellar ataxia	Orphanet	98099	http://www.orpha.net/ORDO/Orphanet_98099
Autosomal recessive metabolic cerebellar ataxia	Autosomal recessive metabolic cerebellar ataxia	Orphanet	98096	http://www.orpha.net/ORDO/Orphanet_98096
Autosomal recessive cerebellar ataxia due to a DNA repair defect	Autosomal recessive cerebellar ataxia due to a DNA repair defect	Orphanet	98097	http://www.orpha.net/ORDO/Orphanet_98097
Autosomal recessive congenital cerebellar ataxia	Autosomal recessive congenital cerebellar ataxia	Orphanet	98095	http://www.orpha.net/ORDO/Orphanet_98095
Gonadal dysgenesis of gynecological interest	Gonadal dysgenesis of gynecological interest	Orphanet	98074	http://www.orpha.net/ORDO/Orphanet_98074
46,XY disorder of sex development	46,XY disorder of sex development	Orphanet	98085	http://www.orpha.net/ORDO/Orphanet_98085
46,XX disorder of sex development induced by androgens excess	46,XX disorder of sex development induced by androgens excess	Orphanet	98078	http://www.orpha.net/ORDO/Orphanet_98078
Chronic encephalitis	Chronic encephalitis	Orphanet	98255	http://www.orpha.net/ORDO/Orphanet_98255
Infantile epilepsy syndrome	Infantile epilepsy syndrome	Orphanet	98258	http://www.orpha.net/ORDO/Orphanet_98258
Neonatal epilepsy syndrome	Neonatal epilepsy syndrome	Orphanet	98257	http://www.orpha.net/ORDO/Orphanet_98257
Adolescent-onset epilepsy syndrome	Adolescent-onset epilepsy syndrome	Orphanet	98260	http://www.orpha.net/ORDO/Orphanet_98260
Childhood-onset epilepsy syndrome	Childhood-onset epilepsy syndrome	Orphanet	98259	http://www.orpha.net/ORDO/Orphanet_98259
Progressive myoclonic epilepsy	Progressive myoclonic epilepsy	Orphanet	98261	http://www.orpha.net/ORDO/Orphanet_98261
Ehlers-Danlos syndrome	Ehlers-Danlos syndrome	Orphanet	98249	http://www.orpha.net/ORDO/Orphanet_98249
Infectious encephalitis	Infectious encephalitis	Orphanet	98252	http://www.orpha.net/ORDO/Orphanet_98252
Postinfectious encephalitis	Postinfectious encephalitis	Orphanet	98253	http://www.orpha.net/ORDO/Orphanet_98253
Immunodeficiency-associated lymphoproliferative disease	Immunodeficiency-associated lymphoproliferative disease	Orphanet	98290	http://www.orpha.net/ORDO/Orphanet_98290
Dendritic cell tumor	Dendritic cell tumor	Orphanet	98289	http://www.orpha.net/ORDO/Orphanet_98289
Macrophage or histiocytic tumor	Macrophage or histiocytic tumor	Orphanet	98288	http://www.orpha.net/ORDO/Orphanet_98288
Histiocytic and dendritic cell tumor	Histiocytic and dendritic cell tumor	Orphanet	98287	http://www.orpha.net/ORDO/Orphanet_98287
Hodgkin lymphoma	Hodgkin lymphoma	Orphanet	98293	http://www.orpha.net/ORDO/Orphanet_98293
Mastocytosis	Mastocytosis	Orphanet	98292	http://www.orpha.net/ORDO/Orphanet_98292
Lymphoproliferative disease associated with primary immune disease	Lymphoproliferative disease associated with primary immune disease	Orphanet	98291	http://www.orpha.net/ORDO/Orphanet_98291
Plasma cell tumor	Plasma cell tumor	Orphanet	98282	http://www.orpha.net/ORDO/Orphanet_98282
Myeloproliferative neoplasm	Myeloproliferative neoplasm	Orphanet	98274	http://www.orpha.net/ORDO/Orphanet_98274
Acute myeloid leukemia with recurrent genetic anomaly	Acute myeloid leukemia with recurrent genetic anomaly	Orphanet	98277	http://www.orpha.net/ORDO/Orphanet_98277
Myelodysplastic/myeloproliferative disease	Myelodysplastic/myeloproliferative disease	Orphanet	98275	http://www.orpha.net/ORDO/Orphanet_98275
Genetic non-syndromic obesity	Genetic non-syndromic obesity	Orphanet	98267	http://www.orpha.net/ORDO/Orphanet_98267
Malformation syndrome with hamartosis	Malformation syndrome with hamartosis	Orphanet	98196	http://www.orpha.net/ORDO/Orphanet_98196
Combined dystonia	Combined dystonia	Orphanet	98203	http://www.orpha.net/ORDO/Orphanet_98203
Congenital myopathy	Congenital myopathy	Orphanet	97245	http://www.orpha.net/ORDO/Orphanet_97245
Rigid spine syndrome	Rigid spine syndrome	Orphanet	97244	http://www.orpha.net/ORDO/Orphanet_97244
Congenital muscular dystrophy	Congenital muscular dystrophy	Orphanet	97242	http://www.orpha.net/ORDO/Orphanet_97242
GRFoma	GRFoma	Orphanet	97261	http://www.orpha.net/ORDO/Orphanet_97261
Neuroendocrine tumor of pancreas	Neuroendocrine tumor of pancreas	Orphanet	97253	http://www.orpha.net/ORDO/Orphanet_97253
Mega-cisterna magna	Mega-cisterna magna	Orphanet	97252	http://www.orpha.net/ORDO/Orphanet_97252
Pontocerebellar hypoplasia type 3	Pontocerebellar hypoplasia type 3	Orphanet	97249	http://www.orpha.net/ORDO/Orphanet_97249
Insulinoma	Insulinoma	Orphanet	97279	http://www.orpha.net/ORDO/Orphanet_97279
PPoma	PPoma	Orphanet	97278	http://www.orpha.net/ORDO/Orphanet_97278
Encephalitis	Encephalitis	Orphanet	97275	http://www.orpha.net/ORDO/Orphanet_97275
Thyroid lymphoma	Thyroid lymphoma	Orphanet	97285	http://www.orpha.net/ORDO/Orphanet_97285
Somatostatinoma	Somatostatinoma	Orphanet	97283	http://www.orpha.net/ORDO/Orphanet_97283
VIPoma	VIPoma	Orphanet	97282	http://www.orpha.net/ORDO/Orphanet_97282
Glucagonoma	Glucagonoma	Orphanet	97280	http://www.orpha.net/ORDO/Orphanet_97280
Thymic neuroendocrine tumor	Thymic neuroendocrine tumor	Orphanet	97289	http://www.orpha.net/ORDO/Orphanet_97289
Familial papillary thyroid carcinoma with renal papillary neoplasia	Familial papillary thyroid carcinoma with renal papillary neoplasia	Orphanet	97290	http://www.orpha.net/ORDO/Orphanet_97290
Carney-Stratakis syndrome	Carney-Stratakis syndrome	Orphanet	97286	http://www.orpha.net/ORDO/Orphanet_97286
Bronchial neuroendocrine tumor	Bronchial neuroendocrine tumor	Orphanet	97287	http://www.orpha.net/ORDO/Orphanet_97287
Rare benign ovarian tumor	Rare benign ovarian tumor	Orphanet	97293	http://www.orpha.net/ORDO/Orphanet_97293
Furlong syndrome	Furlong syndrome	Orphanet	97295	http://www.orpha.net/ORDO/Orphanet_97295
Cardiogenic shock	Cardiogenic shock	Orphanet	97292	http://www.orpha.net/ORDO/Orphanet_97292
Kienbock disease	Kienbock disease	Orphanet	97332	http://www.orpha.net/ORDO/Orphanet_97332
Osgood-Schlatter disease	Osgood-Schlatter disease	Orphanet	97335	http://www.orpha.net/ORDO/Orphanet_97335
Bohring-Opitz syndrome	Bohring-Opitz syndrome	Orphanet	97297	http://www.orpha.net/ORDO/Orphanet_97297
Thoracic outlet syndrome	Thoracic outlet syndrome	Orphanet	97330	http://www.orpha.net/ORDO/Orphanet_97330
Melanoma of soft tissue	Melanoma of soft tissue	Orphanet	97338	http://www.orpha.net/ORDO/Orphanet_97338
Dural sinus malformation	Dural sinus malformation	Orphanet	97339	http://www.orpha.net/ORDO/Orphanet_97339
Panner disease	Panner disease	Orphanet	97336	http://www.orpha.net/ORDO/Orphanet_97336
Sinding-Larsen-Johansson disease	Sinding-Larsen-Johansson disease	Orphanet	97337	http://www.orpha.net/ORDO/Orphanet_97337
Persistent placoid maculopathy	Persistent placoid maculopathy	Orphanet	97341	http://www.orpha.net/ORDO/Orphanet_97341
Hunter-McAlpine craniosynostosis	Hunter-McAlpine craniosynostosis	Orphanet	97340	http://www.orpha.net/ORDO/Orphanet_97340
ADan amyloidosis	ADan amyloidosis	Orphanet	97346	http://www.orpha.net/ORDO/Orphanet_97346
ABri amyloidosis	ABri amyloidosis	Orphanet	97345	http://www.orpha.net/ORDO/Orphanet_97345
Postencephalitic parkinsonism	Postencephalitic parkinsonism	Orphanet	97349	http://www.orpha.net/ORDO/Orphanet_97349
Pellagra	Pellagra	Orphanet	97352	http://www.orpha.net/ORDO/Orphanet_97352
NON RARE IN EUROPE: Wernicke encephalopathy	NON RARE IN EUROPE: Wernicke encephalopathy	Orphanet	97354	http://www.orpha.net/ORDO/Orphanet_97354
Dementia pugilistica	Dementia pugilistica	Orphanet	97353	http://www.orpha.net/ORDO/Orphanet_97353
Robinow syndrome	Robinow syndrome	Orphanet	97360	http://www.orpha.net/ORDO/Orphanet_97360
Caribbean parkinsonism	Caribbean parkinsonism	Orphanet	97355	http://www.orpha.net/ORDO/Orphanet_97355
Renal hypoplasia, unilateral	Renal hypoplasia, unilateral	Orphanet	97361	http://www.orpha.net/ORDO/Orphanet_97361
Renal hypoplasia, bilateral	Renal hypoplasia, bilateral	Orphanet	97362	http://www.orpha.net/ORDO/Orphanet_97362
Unilateral multicystic dysplastic kidney	Unilateral multicystic dysplastic kidney	Orphanet	97363	http://www.orpha.net/ORDO/Orphanet_97363
Bilateral multicystic dysplastic kidney	Bilateral multicystic dysplastic kidney	Orphanet	97364	http://www.orpha.net/ORDO/Orphanet_97364
NON RARE IN EUROPE: Solitary renal cyst	NON RARE IN EUROPE: Solitary renal cyst	Orphanet	97365	http://www.orpha.net/ORDO/Orphanet_97365
Multiloculated renal cyst	Multiloculated renal cyst	Orphanet	97366	http://www.orpha.net/ORDO/Orphanet_97366
Renal tubular dysgenesis due to twin-twin transfusion	Renal tubular dysgenesis due to twin-twin transfusion	Orphanet	97367	http://www.orpha.net/ORDO/Orphanet_97367
Drug-related renal tubular dysgenesis	Drug-related renal tubular dysgenesis	Orphanet	97368	http://www.orpha.net/ORDO/Orphanet_97368
Renal tubular dysgenesis of genetic origin	Renal tubular dysgenesis of genetic origin	Orphanet	97369	http://www.orpha.net/ORDO/Orphanet_97369
Right sided atrial isomerism	Right sided atrial isomerism	Orphanet	97548	http://www.orpha.net/ORDO/Orphanet_97548
Steroid-sensitive nephrotic syndrome without renal biopsy	Steroid-sensitive nephrotic syndrome without renal biopsy	Orphanet	97552	http://www.orpha.net/ORDO/Orphanet_97552
Congenital and infantile nephrotic syndrome	Congenital and infantile nephrotic syndrome	Orphanet	97556	http://www.orpha.net/ORDO/Orphanet_97556
NON RARE IN EUROPE: Chronic proteinuria with focal and segmental hyalinosis	NON RARE IN EUROPE: Chronic proteinuria with focal and segmental hyalinosis	Orphanet	97557	http://www.orpha.net/ORDO/Orphanet_97557
Primary membranous glomerulonephritis	Primary membranous glomerulonephritis	Orphanet	97560	http://www.orpha.net/ORDO/Orphanet_97560
Maternal uniparental disomy of chromosome 9	Maternal uniparental disomy of chromosome 9	Orphanet	96183	http://www.orpha.net/ORDO/Orphanet_96183
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	Orphanet	96182	http://www.orpha.net/ORDO/Orphanet_96182
Maternal uniparental disomy of chromosome 6	Maternal uniparental disomy of chromosome 6	Orphanet	96181	http://www.orpha.net/ORDO/Orphanet_96181
Maternal uniparental disomy of chromosome 4	Maternal uniparental disomy of chromosome 4	Orphanet	96180	http://www.orpha.net/ORDO/Orphanet_96180
Maternal uniparental disomy of chromosome 2	Maternal uniparental disomy of chromosome 2	Orphanet	96179	http://www.orpha.net/ORDO/Orphanet_96179
Ring chromosome 16 syndrome	Ring chromosome 16 syndrome	Orphanet	96178	http://www.orpha.net/ORDO/Orphanet_96178
Ring chromosome 15 syndrome	Ring chromosome 15 syndrome	Orphanet	96177	http://www.orpha.net/ORDO/Orphanet_96177
Ring chromosome 13 syndrome	Ring chromosome 13 syndrome	Orphanet	96176	http://www.orpha.net/ORDO/Orphanet_96176
Paternal uniparental disomy of chromosome 6	Paternal uniparental disomy of chromosome 6	Orphanet	96191	http://www.orpha.net/ORDO/Orphanet_96191
Paternal uniparental disomy of chromosome 5	Paternal uniparental disomy of chromosome 5	Orphanet	96190	http://www.orpha.net/ORDO/Orphanet_96190
Maternal uniparental disomy of chromosome 22	Maternal uniparental disomy of chromosome 22	Orphanet	96188	http://www.orpha.net/ORDO/Orphanet_96188
Maternal uniparental disomy of chromosome 21	Maternal uniparental disomy of chromosome 21	Orphanet	96187	http://www.orpha.net/ORDO/Orphanet_96187
Maternal uniparental disomy of chromosome 20	Maternal uniparental disomy of chromosome 20	Orphanet	96186	http://www.orpha.net/ORDO/Orphanet_96186
Maternal uniparental disomy of chromosome 16	Maternal uniparental disomy of chromosome 16	Orphanet	96185	http://www.orpha.net/ORDO/Orphanet_96185
Temple syndrome due to maternal uniparental disomy of chromosome 14	Temple syndrome due to maternal uniparental disomy of chromosome 14	Orphanet	96184	http://www.orpha.net/ORDO/Orphanet_96184
Paternal uniparental disomy of chromosome 20	Paternal uniparental disomy of chromosome 20	Orphanet	96194	http://www.orpha.net/ORDO/Orphanet_96194
Paternal uniparental disomy of chromosome 21	Paternal uniparental disomy of chromosome 21	Orphanet	96195	http://www.orpha.net/ORDO/Orphanet_96195
Paternal uniparental disomy of chromosome 7	Paternal uniparental disomy of chromosome 7	Orphanet	96192	http://www.orpha.net/ORDO/Orphanet_96192
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11	Orphanet	96193	http://www.orpha.net/ORDO/Orphanet_96193
Somatotropic adenoma	Somatotropic adenoma	Orphanet	96256	http://www.orpha.net/ORDO/Orphanet_96256
Rare genetic deafness	Rare genetic deafness	Orphanet	96210	http://www.orpha.net/ORDO/Orphanet_96210
Cushing disease	Cushing disease	Orphanet	96253	http://www.orpha.net/ORDO/Orphanet_96253
X small rings	X small rings	Orphanet	96201	http://www.orpha.net/ORDO/Orphanet_96201
Polyploidy	Polyploidy	Orphanet	96321	http://www.orpha.net/ORDO/Orphanet_96321
Isolated partial vaginal agenesis	Isolated partial vaginal agenesis	Orphanet	96269	http://www.orpha.net/ORDO/Orphanet_96269
49,XXXXY syndrome	49,XXXXY syndrome	Orphanet	96264	http://www.orpha.net/ORDO/Orphanet_96264
48,XXXY syndrome	48,XXXY syndrome	Orphanet	96263	http://www.orpha.net/ORDO/Orphanet_96263
Leydig cell hypoplasia due to partial LH resistance	Leydig cell hypoplasia due to partial LH resistance	Orphanet	96266	http://www.orpha.net/ORDO/Orphanet_96266
Leydig cell hypoplasia due to complete LH resistance	Leydig cell hypoplasia due to complete LH resistance	Orphanet	96265	http://www.orpha.net/ORDO/Orphanet_96265
Rare gynecologic or obstetric disease	Rare gynecologic or obstetric disease	Orphanet	96344	http://www.orpha.net/ORDO/Orphanet_96344
Anorectal malformation	Anorectal malformation	Orphanet	96346	http://www.orpha.net/ORDO/Orphanet_96346
Isochromosome Y	Isochromosome Y	Orphanet	96325	http://www.orpha.net/ORDO/Orphanet_96325
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	Orphanet	96334	http://www.orpha.net/ORDO/Orphanet_96334
Rare otorhinolaryngological malformation	Rare otorhinolaryngological malformation	Orphanet	96333	http://www.orpha.net/ORDO/Orphanet_96333
Distal arthrogryposis	Distal arthrogryposis	Orphanet	97120	http://www.orpha.net/ORDO/Orphanet_97120
Eisenmenger syndrome	Eisenmenger syndrome	Orphanet	97214	http://www.orpha.net/ORDO/Orphanet_97214
Early-onset schizophrenia	Early-onset schizophrenia	Orphanet	96369	http://www.orpha.net/ORDO/Orphanet_96369
Glycogen storage disease due to phosphoglycerate mutase deficiency	Glycogen storage disease due to phosphoglycerate mutase deficiency	Orphanet	97234	http://www.orpha.net/ORDO/Orphanet_97234
Rippling muscle disease	Rippling muscle disease	Orphanet	97238	http://www.orpha.net/ORDO/Orphanet_97238
Reducing body myopathy	Reducing body myopathy	Orphanet	97239	http://www.orpha.net/ORDO/Orphanet_97239
Zebra body myopathy	Zebra body myopathy	Orphanet	97240	http://www.orpha.net/ORDO/Orphanet_97240
Riboflavin transporter deficiency	Riboflavin transporter deficiency	Orphanet	97229	http://www.orpha.net/ORDO/Orphanet_97229
Solar urticaria	Solar urticaria	Orphanet	97230	http://www.orpha.net/ORDO/Orphanet_97230
Ligneous conjunctivitis	Ligneous conjunctivitis	Orphanet	97231	http://www.orpha.net/ORDO/Orphanet_97231
Fingerprint body myopathy	Fingerprint body myopathy	Orphanet	97232	http://www.orpha.net/ORDO/Orphanet_97232
Rare endocrine disease	Rare endocrine disease	Orphanet	97978	http://www.orpha.net/ORDO/Orphanet_97978
Rare immune disease	Rare immune disease	Orphanet	98004	http://www.orpha.net/ORDO/Orphanet_98004
Rare hematologic disease	Rare hematologic disease	Orphanet	97992	http://www.orpha.net/ORDO/Orphanet_97992
Rare neurologic disease	Rare neurologic disease	Orphanet	98006	http://www.orpha.net/ORDO/Orphanet_98006
Infectious disease of the nervous system	Infectious disease of the nervous system	Orphanet	98010	http://www.orpha.net/ORDO/Orphanet_98010
Rare neurologic disease with psychiatric involvement	Rare neurologic disease with psychiatric involvement	Orphanet	98033	http://www.orpha.net/ORDO/Orphanet_98033
Rare otorhinolaryngologic disease	Rare otorhinolaryngologic disease	Orphanet	98036	http://www.orpha.net/ORDO/Orphanet_98036
Rare systemic or rheumatologic disease	Rare systemic or rheumatologic disease	Orphanet	98023	http://www.orpha.net/ORDO/Orphanet_98023
Rare headache	Rare headache	Orphanet	98022	http://www.orpha.net/ORDO/Orphanet_98022
Rare disease with odontological manifestation	Rare disease with odontological manifestation	Orphanet	98027	http://www.orpha.net/ORDO/Orphanet_98027
Rare odontologic disease	Rare odontologic disease	Orphanet	98026	http://www.orpha.net/ORDO/Orphanet_98026
Rare circulatory system disease	Rare circulatory system disease	Orphanet	98028	http://www.orpha.net/ORDO/Orphanet_98028
Maternal uniparental disomy of chromosome 13	Maternal uniparental disomy of chromosome 13	Orphanet	97678	http://www.orpha.net/ORDO/Orphanet_97678
Congenital renal artery stenosis	Congenital renal artery stenosis	Orphanet	97598	http://www.orpha.net/ORDO/Orphanet_97598
Pseudohypoparathyroidism	Pseudohypoparathyroidism	Orphanet	97593	http://www.orpha.net/ORDO/Orphanet_97593
Immunotactoid glomerulopathy	Immunotactoid glomerulopathy	Orphanet	97567	http://www.orpha.net/ORDO/Orphanet_97567
Pauci-immune glomerulonephritis without ANCA	Pauci-immune glomerulonephritis without ANCA	Orphanet	97564	http://www.orpha.net/ORDO/Orphanet_97564
Non-amyloid fibrillary glomerulopathy	Non-amyloid fibrillary glomerulopathy	Orphanet	97566	http://www.orpha.net/ORDO/Orphanet_97566
NON RARE IN EUROPE: Benign familial hematuria	NON RARE IN EUROPE: Benign familial hematuria	Orphanet	97562	http://www.orpha.net/ORDO/Orphanet_97562
Pauci-immune glomerulonephritis with ANCA	Pauci-immune glomerulonephritis with ANCA	Orphanet	97563	http://www.orpha.net/ORDO/Orphanet_97563
Rare gastroenterologic disease	Rare gastroenterologic disease	Orphanet	97935	http://www.orpha.net/ORDO/Orphanet_97935
Rare cardiac disease	Rare cardiac disease	Orphanet	97929	http://www.orpha.net/ORDO/Orphanet_97929
17q11 microdeletion syndrome	17q11 microdeletion syndrome	Orphanet	97685	http://www.orpha.net/ORDO/Orphanet_97685
Rare respiratory disease	Rare respiratory disease	Orphanet	97955	http://www.orpha.net/ORDO/Orphanet_97955
Intestinal malformation	Intestinal malformation	Orphanet	97945	http://www.orpha.net/ORDO/Orphanet_97945
Gastroduodenal malformation	Gastroduodenal malformation	Orphanet	97944	http://www.orpha.net/ORDO/Orphanet_97944
Rare ophthalmic disorder	Rare ophthalmic disorder	Orphanet	97966	http://www.orpha.net/ORDO/Orphanet_97966
Rare surgical thoracic disease	Rare surgical thoracic disease	Orphanet	97962	http://www.orpha.net/ORDO/Orphanet_97962
Rare surgical cardiac disease	Rare surgical cardiac disease	Orphanet	97965	http://www.orpha.net/ORDO/Orphanet_97965
Respiratory or thoracic malformation	Respiratory or thoracic malformation	Orphanet	97957	http://www.orpha.net/ORDO/Orphanet_97957
Idiopathic isolated micropenis	Idiopathic isolated micropenis	Orphanet	95707	http://www.orpha.net/ORDO/Orphanet_95707
Rare precocious puberty	Rare precocious puberty	Orphanet	95708	http://www.orpha.net/ORDO/Orphanet_95708
Posterior hypospadias	Posterior hypospadias	Orphanet	95706	http://www.orpha.net/ORDO/Orphanet_95706
Cytomegalic congenital adrenal hypoplasia	Cytomegalic congenital adrenal hypoplasia	Orphanet	95702	http://www.orpha.net/ORDO/Orphanet_95702
Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies	Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies	Orphanet	95715	http://www.orpha.net/ORDO/Orphanet_95715
Familial thyroid dyshormonogenesis	Familial thyroid dyshormonogenesis	Orphanet	95716	http://www.orpha.net/ORDO/Orphanet_95716
Athyreosis	Athyreosis	Orphanet	95713	http://www.orpha.net/ORDO/Orphanet_95713
Primary congenital hypothyroidism without thyroid developmental anomaly	Primary congenital hypothyroidism without thyroid developmental anomaly	Orphanet	95714	http://www.orpha.net/ORDO/Orphanet_95714
Congenital hypothyroidism due to developmental anomaly	Congenital hypothyroidism due to developmental anomaly	Orphanet	95711	http://www.orpha.net/ORDO/Orphanet_95711
Thyroid ectopia	Thyroid ectopia	Orphanet	95712	http://www.orpha.net/ORDO/Orphanet_95712
Acquired premature ovarian failure	Acquired premature ovarian failure	Orphanet	95709	http://www.orpha.net/ORDO/Orphanet_95709
Non-acquired premature ovarian failure	Non-acquired premature ovarian failure	Orphanet	95710	http://www.orpha.net/ORDO/Orphanet_95710
Post-traumatic pituitary deficiency	Post-traumatic pituitary deficiency	Orphanet	95619	http://www.orpha.net/ORDO/Orphanet_95619
Pituitary hormone deficiency secondary to storage disease	Pituitary hormone deficiency secondary to storage disease	Orphanet	95618	http://www.orpha.net/ORDO/Orphanet_95618
Pituitary hormone deficiency secondary to a granulomatous disease	Pituitary hormone deficiency secondary to a granulomatous disease	Orphanet	95617	http://www.orpha.net/ORDO/Orphanet_95617
Pituitary apoplexy	Pituitary apoplexy	Orphanet	95613	http://www.orpha.net/ORDO/Orphanet_95613
Familial adrenal hypoplasia with absent pituitary luteinizing hormone	Familial adrenal hypoplasia with absent pituitary luteinizing hormone	Orphanet	95700	http://www.orpha.net/ORDO/Orphanet_95700
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	Orphanet	95699	http://www.orpha.net/ORDO/Orphanet_95699
NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Orphanet	95698	http://www.orpha.net/ORDO/Orphanet_95698
Acquired central diabetes insipidus	Acquired central diabetes insipidus	Orphanet	95626	http://www.orpha.net/ORDO/Orphanet_95626
Pituitary hormone deficiency of meningeal origin	Pituitary hormone deficiency of meningeal origin	Orphanet	95505	http://www.orpha.net/ORDO/Orphanet_95505
Primary hypophysitis	Primary hypophysitis	Orphanet	95506	http://www.orpha.net/ORDO/Orphanet_95506
Congenital anomaly of hepatic vein	Congenital anomaly of hepatic vein	Orphanet	95507	http://www.orpha.net/ORDO/Orphanet_95507
Congenital anomaly of the coronary sinus	Congenital anomaly of the coronary sinus	Orphanet	95500	http://www.orpha.net/ORDO/Orphanet_95500
Acquired pituitary hormone deficiency	Acquired pituitary hormone deficiency	Orphanet	95502	http://www.orpha.net/ORDO/Orphanet_95502
Pituitary hormone deficiency of tumoral origin	Pituitary hormone deficiency of tumoral origin	Orphanet	95503	http://www.orpha.net/ORDO/Orphanet_95503
Adenohypophysitis	Adenohypophysitis	Orphanet	95512	http://www.orpha.net/ORDO/Orphanet_95512
Panhypophysitis	Panhypophysitis	Orphanet	95513	http://www.orpha.net/ORDO/Orphanet_95513
Pituitary hormone deficiency of vascular origin	Pituitary hormone deficiency of vascular origin	Orphanet	95611	http://www.orpha.net/ORDO/Orphanet_95611
Atrial appendage anomaly	Atrial appendage anomaly	Orphanet	95510	http://www.orpha.net/ORDO/Orphanet_95510
Non-acquired pituitary hormone deficiency	Non-acquired pituitary hormone deficiency	Orphanet	95488	http://www.orpha.net/ORDO/Orphanet_95488
Congenital coronary artery aneurysm	Congenital coronary artery aneurysm	Orphanet	95491	http://www.orpha.net/ORDO/Orphanet_95491
Arterial duct anomaly	Arterial duct anomaly	Orphanet	95485	http://www.orpha.net/ORDO/Orphanet_95485
NON RARE IN EUROPE: Atypical arterial duct	NON RARE IN EUROPE: Atypical arterial duct	Orphanet	95487	http://www.orpha.net/ORDO/Orphanet_95487
Premature closure of the arterial duct	Premature closure of the arterial duct	Orphanet	95486	http://www.orpha.net/ORDO/Orphanet_95486
Pituitary stalk interruption syndrome	Pituitary stalk interruption syndrome	Orphanet	95496	http://www.orpha.net/ORDO/Orphanet_95496
Congenital anomaly of the inferior vena cava	Congenital anomaly of the inferior vena cava	Orphanet	95499	http://www.orpha.net/ORDO/Orphanet_95499
Congenital anomaly of superior vena cava	Congenital anomaly of superior vena cava	Orphanet	95498	http://www.orpha.net/ORDO/Orphanet_95498
Disease associated with non-acquired combined pituitary hormone deficiency	Disease associated with non-acquired combined pituitary hormone deficiency	Orphanet	95495	http://www.orpha.net/ORDO/Orphanet_95495
Combined pituitary hormone deficiencies, genetic forms	Combined pituitary hormone deficiencies, genetic forms	Orphanet	95494	http://www.orpha.net/ORDO/Orphanet_95494
Mesocardia	Mesocardia	Orphanet	95443	http://www.orpha.net/ORDO/Orphanet_95443
Congenital aortic valve atresia	Congenital aortic valve atresia	Orphanet	95448	http://www.orpha.net/ORDO/Orphanet_95448
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome	Orphanet	95433	http://www.orpha.net/ORDO/Orphanet_95433
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	Orphanet	95434	http://www.orpha.net/ORDO/Orphanet_95434
Tricuspid valve agenesis	Tricuspid valve agenesis	Orphanet	95457	http://www.orpha.net/ORDO/Orphanet_95457
Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum	Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum	Orphanet	95455	http://www.orpha.net/ORDO/Orphanet_95455
Accessory tricuspid valve tissue	Accessory tricuspid valve tissue	Orphanet	95462	http://www.orpha.net/ORDO/Orphanet_95462
Anomaly of the tricuspid subvalvular apparatus	Anomaly of the tricuspid subvalvular apparatus	Orphanet	95463	http://www.orpha.net/ORDO/Orphanet_95463
Congenital tricuspid stenosis	Congenital tricuspid stenosis	Orphanet	95459	http://www.orpha.net/ORDO/Orphanet_95459
Straddling or overriding tricuspid valve	Straddling or overriding tricuspid valve	Orphanet	95461	http://www.orpha.net/ORDO/Orphanet_95461
Double-orifice mitral valve	Double-orifice mitral valve	Orphanet	95474	http://www.orpha.net/ORDO/Orphanet_95474
Univentricular cardiopathy	Univentricular cardiopathy	Orphanet	95483	http://www.orpha.net/ORDO/Orphanet_95483
Congenital mitral valve insufficiency and/or stenosis	Congenital mitral valve insufficiency and/or stenosis	Orphanet	95464	http://www.orpha.net/ORDO/Orphanet_95464
Cleft mitral valve	Cleft mitral valve	Orphanet	95465	http://www.orpha.net/ORDO/Orphanet_95465
Acute hepatic porphyria	Acute hepatic porphyria	Orphanet	95157	http://www.orpha.net/ORDO/Orphanet_95157
Lissencephaly due to LIS1 mutation	Lissencephaly due to LIS1 mutation	Orphanet	95232	http://www.orpha.net/ORDO/Orphanet_95232
Chronic hepatic porphyria	Chronic hepatic porphyria	Orphanet	95161	http://www.orpha.net/ORDO/Orphanet_95161
Hepatoerythropoietic porphyria	Hepatoerythropoietic porphyria	Orphanet	95159	http://www.orpha.net/ORDO/Orphanet_95159
COG8-CDG	COG8-CDG	Orphanet	95428	http://www.orpha.net/ORDO/Orphanet_95428
Secondary short bowel syndrome	Secondary short bowel syndrome	Orphanet	95427	http://www.orpha.net/ORDO/Orphanet_95427
Acute adrenal insufficiency	Acute adrenal insufficiency	Orphanet	95409	http://www.orpha.net/ORDO/Orphanet_95409
Primary progressive aphasia	Primary progressive aphasia	Orphanet	95432	http://www.orpha.net/ORDO/Orphanet_95432
Twin to twin transfusion syndrome	Twin to twin transfusion syndrome	Orphanet	95431	http://www.orpha.net/ORDO/Orphanet_95431
Congenital tracheomalacia	Congenital tracheomalacia	Orphanet	95430	http://www.orpha.net/ORDO/Orphanet_95430
Angioma serpiginosum	Angioma serpiginosum	Orphanet	95429	http://www.orpha.net/ORDO/Orphanet_95429
Mills syndrome	Mills syndrome	Orphanet	94091	http://www.orpha.net/ORDO/Orphanet_94091
Neuroleptic malignant syndrome	Neuroleptic malignant syndrome	Orphanet	94093	http://www.orpha.net/ORDO/Orphanet_94093
Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome	Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome	Orphanet	94095	http://www.orpha.net/ORDO/Orphanet_94095
Cerebellar ataxia, Cayman type	Cerebellar ataxia, Cayman type	Orphanet	94122	http://www.orpha.net/ORDO/Orphanet_94122
Spinocerebellar ataxia with axonal neuropathy type 1	Spinocerebellar ataxia with axonal neuropathy type 1	Orphanet	94124	http://www.orpha.net/ORDO/Orphanet_94124
Recessive mitochondrial ataxia syndrome	Recessive mitochondrial ataxia syndrome	Orphanet	94125	http://www.orpha.net/ORDO/Orphanet_94125
Autosomal dominant cerebellar ataxia type I	Autosomal dominant cerebellar ataxia type I	Orphanet	94145	http://www.orpha.net/ORDO/Orphanet_94145
Spinocerebellar ataxia type 7	Spinocerebellar ataxia type 7	Orphanet	94147	http://www.orpha.net/ORDO/Orphanet_94147
Autosomal dominant cerebellar ataxia type III	Autosomal dominant cerebellar ataxia type III	Orphanet	94148	http://www.orpha.net/ORDO/Orphanet_94148
Autosomal dominant cerebellar ataxia type IV	Autosomal dominant cerebellar ataxia type IV	Orphanet	94149	http://www.orpha.net/ORDO/Orphanet_94149
Anonychia congenita totalis	Anonychia congenita totalis	Orphanet	94150	http://www.orpha.net/ORDO/Orphanet_94150
Deafness-infertility syndrome	Deafness-infertility syndrome	Orphanet	94064	http://www.orpha.net/ORDO/Orphanet_94064
12q14 microdeletion syndrome	12q14 microdeletion syndrome	Orphanet	94063	http://www.orpha.net/ORDO/Orphanet_94063
Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia	Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia	Orphanet	94066	http://www.orpha.net/ORDO/Orphanet_94066
15q24 microdeletion syndrome	15q24 microdeletion syndrome	Orphanet	94065	http://www.orpha.net/ORDO/Orphanet_94065
Spondyloepiphyseal dysplasia congenita	Spondyloepiphyseal dysplasia congenita	Orphanet	94068	http://www.orpha.net/ORDO/Orphanet_94068
Severe immune-mediated enteropathy	Severe immune-mediated enteropathy	Orphanet	94075	http://www.orpha.net/ORDO/Orphanet_94075
Partington syndrome	Partington syndrome	Orphanet	94083	http://www.orpha.net/ORDO/Orphanet_94083
Non-functioning paraganglioma	Non-functioning paraganglioma	Orphanet	94080	http://www.orpha.net/ORDO/Orphanet_94080
Blue diaper syndrome	Blue diaper syndrome	Orphanet	94086	http://www.orpha.net/ORDO/Orphanet_94086
Cerebro-oculo-facial-lymphatic syndrome	Cerebro-oculo-facial-lymphatic syndrome	Orphanet	94084	http://www.orpha.net/ORDO/Orphanet_94084
Hereditary renal hypouricemia	Hereditary renal hypouricemia	Orphanet	94088	http://www.orpha.net/ORDO/Orphanet_94088
Cytophagic histiocytic panniculitis	Cytophagic histiocytic panniculitis	Orphanet	94087	http://www.orpha.net/ORDO/Orphanet_94087
Pseudohypoparathyroidism type 2	Pseudohypoparathyroidism type 2	Orphanet	94090	http://www.orpha.net/ORDO/Orphanet_94090
Pseudohypoparathyroidism type 1B	Pseudohypoparathyroidism type 1B	Orphanet	94089	http://www.orpha.net/ORDO/Orphanet_94089
Ring chromosome 11 syndrome	Ring chromosome 11 syndrome	Orphanet	96175	http://www.orpha.net/ORDO/Orphanet_96175
Ring chromosome 9 syndrome	Ring chromosome 9 syndrome	Orphanet	96173	http://www.orpha.net/ORDO/Orphanet_96173
Ring chromosome 3 syndrome	Ring chromosome 3 syndrome	Orphanet	96172	http://www.orpha.net/ORDO/Orphanet_96172
Ring chromosome 2 syndrome	Ring chromosome 2 syndrome	Orphanet	96171	http://www.orpha.net/ORDO/Orphanet_96171
Emanuel syndrome	Emanuel syndrome	Orphanet	96170	http://www.orpha.net/ORDO/Orphanet_96170
Koolen-De Vries syndrome	Koolen-De Vries syndrome	Orphanet	96169	http://www.orpha.net/ORDO/Orphanet_96169
Monosomy 13q34	Monosomy 13q34	Orphanet	96168	http://www.orpha.net/ORDO/Orphanet_96168
Recombinant 8 syndrome	Recombinant 8 syndrome	Orphanet	96167	http://www.orpha.net/ORDO/Orphanet_96167
Non-distal monosomy 20q	Non-distal monosomy 20q	Orphanet	96164	http://www.orpha.net/ORDO/Orphanet_96164
Non-distal monosomy 12q	Non-distal monosomy 12q	Orphanet	96160	http://www.orpha.net/ORDO/Orphanet_96160
Distal monosomy 20q	Distal monosomy 20q	Orphanet	96152	http://www.orpha.net/ORDO/Orphanet_96152
Distal monosomy 14q	Distal monosomy 14q	Orphanet	96150	http://www.orpha.net/ORDO/Orphanet_96150
Distal monosomy 10q	Distal monosomy 10q	Orphanet	96148	http://www.orpha.net/ORDO/Orphanet_96148
Distal monosomy 12q	Distal monosomy 12q	Orphanet	96149	http://www.orpha.net/ORDO/Orphanet_96149
Kleefstra syndrome due to 9q34 microdeletion	Kleefstra syndrome due to 9q34 microdeletion	Orphanet	96147	http://www.orpha.net/ORDO/Orphanet_96147
Distal monosomy 4q	Distal monosomy 4q	Orphanet	96145	http://www.orpha.net/ORDO/Orphanet_96145
Distal monosomy 19p13.3	Distal monosomy 19p13.3	Orphanet	96129	http://www.orpha.net/ORDO/Orphanet_96129
Distal monosomy 6p	Distal monosomy 6p	Orphanet	96125	http://www.orpha.net/ORDO/Orphanet_96125
Distal monosomy 7p	Distal monosomy 7p	Orphanet	96126	http://www.orpha.net/ORDO/Orphanet_96126
7q11.23 microduplication syndrome	7q11.23 microduplication syndrome	Orphanet	96121	http://www.orpha.net/ORDO/Orphanet_96121
Monosomy 22	Monosomy 22	Orphanet	96123	http://www.orpha.net/ORDO/Orphanet_96123
Non-distal trisomy 9q	Non-distal trisomy 9q	Orphanet	96112	http://www.orpha.net/ORDO/Orphanet_96112
Distal trisomy 20q	Distal trisomy 20q	Orphanet	96107	http://www.orpha.net/ORDO/Orphanet_96107
Distal trisomy 16q	Distal trisomy 16q	Orphanet	96106	http://www.orpha.net/ORDO/Orphanet_96106
Distal trisomy 13q	Distal trisomy 13q	Orphanet	96105	http://www.orpha.net/ORDO/Orphanet_96105
Distal trisomy 22q	Distal trisomy 22q	Orphanet	96109	http://www.orpha.net/ORDO/Orphanet_96109
Distal trisomy 6q	Distal trisomy 6q	Orphanet	96098	http://www.orpha.net/ORDO/Orphanet_96098
Distal trisomy 5q	Distal trisomy 5q	Orphanet	96097	http://www.orpha.net/ORDO/Orphanet_96097
Distal trisomy 4q	Distal trisomy 4q	Orphanet	96096	http://www.orpha.net/ORDO/Orphanet_96096
Distal trisomy 11q	Distal trisomy 11q	Orphanet	96103	http://www.orpha.net/ORDO/Orphanet_96103
Distal trisomy 10q	Distal trisomy 10q	Orphanet	96102	http://www.orpha.net/ORDO/Orphanet_96102
Distal trisomy 9q	Distal trisomy 9q	Orphanet	96101	http://www.orpha.net/ORDO/Orphanet_96101
Distal trisomy 8q	Distal trisomy 8q	Orphanet	96100	http://www.orpha.net/ORDO/Orphanet_96100
Distal trisomy 2q	Distal trisomy 2q	Orphanet	96094	http://www.orpha.net/ORDO/Orphanet_96094
3q26 microduplication syndrome	3q26 microduplication syndrome	Orphanet	96095	http://www.orpha.net/ORDO/Orphanet_96095
8p inverted duplication/deletion syndrome	8p inverted duplication/deletion syndrome	Orphanet	96092	http://www.orpha.net/ORDO/Orphanet_96092
4p16.3 microduplication syndrome	4p16.3 microduplication syndrome	Orphanet	96072	http://www.orpha.net/ORDO/Orphanet_96072
Distal trisomy 7p	Distal trisomy 7p	Orphanet	96074	http://www.orpha.net/ORDO/Orphanet_96074
Beckwith-Wiedemann syndrome due to 11p15 microduplication	Beckwith-Wiedemann syndrome due to 11p15 microduplication	Orphanet	96076	http://www.orpha.net/ORDO/Orphanet_96076
16p13.3 microduplication syndrome	16p13.3 microduplication syndrome	Orphanet	96078	http://www.orpha.net/ORDO/Orphanet_96078
Distal trisomy 1p36	Distal trisomy 1p36	Orphanet	96069	http://www.orpha.net/ORDO/Orphanet_96069
Mosaic trisomy 22	Mosaic trisomy 22	Orphanet	96068	http://www.orpha.net/ORDO/Orphanet_96068
Distal trisomy 3p	Distal trisomy 3p	Orphanet	96071	http://www.orpha.net/ORDO/Orphanet_96071
Distal trisomy 2p	Distal trisomy 2p	Orphanet	96070	http://www.orpha.net/ORDO/Orphanet_96070
Mosaic trisomy 4	Mosaic trisomy 4	Orphanet	96059	http://www.orpha.net/ORDO/Orphanet_96059
Mosaic trisomy 5	Mosaic trisomy 5	Orphanet	96060	http://www.orpha.net/ORDO/Orphanet_96060
Mosaic trisomy 8	Mosaic trisomy 8	Orphanet	96061	http://www.orpha.net/ORDO/Orphanet_96061
Mosaic trisomy 10	Mosaic trisomy 10	Orphanet	96063	http://www.orpha.net/ORDO/Orphanet_96063
Idiopathic congenital hypothyroidism	Idiopathic congenital hypothyroidism	Orphanet	95717	http://www.orpha.net/ORDO/Orphanet_95717
Congenital thyroid malformation without hypothyroidism	Congenital thyroid malformation without hypothyroidism	Orphanet	95718	http://www.orpha.net/ORDO/Orphanet_95718
Thyroid hemiagenesis	Thyroid hemiagenesis	Orphanet	95719	http://www.orpha.net/ORDO/Orphanet_95719
Thyroid hypoplasia	Thyroid hypoplasia	Orphanet	95720	http://www.orpha.net/ORDO/Orphanet_95720
Levocardia	Levocardia	Orphanet	95854	http://www.orpha.net/ORDO/Orphanet_95854
Tetrasomy 21	Tetrasomy 21	Orphanet	96055	http://www.orpha.net/ORDO/Orphanet_96055
Syndromic renal or urinary tract malformation	Syndromic renal or urinary tract malformation	Orphanet	93547	http://www.orpha.net/ORDO/Orphanet_93547
Non-syndromic renal or urinary tract malformation	Non-syndromic renal or urinary tract malformation	Orphanet	93546	http://www.orpha.net/ORDO/Orphanet_93546
Glomerular disease	Glomerular disease	Orphanet	93548	http://www.orpha.net/ORDO/Orphanet_93548
Renal or urinary tract malformation	Renal or urinary tract malformation	Orphanet	93545	http://www.orpha.net/ORDO/Orphanet_93545
Mixed cryoglobulinemia type III	Mixed cryoglobulinemia type III	Orphanet	93555	http://www.orpha.net/ORDO/Orphanet_93555
Type II mixed cryoglobulinemia	Type II mixed cryoglobulinemia	Orphanet	93554	http://www.orpha.net/ORDO/Orphanet_93554
Light and heavy chain deposition disease	Light and heavy chain deposition disease	Orphanet	93557	http://www.orpha.net/ORDO/Orphanet_93557
Heavy chain deposition disease	Heavy chain deposition disease	Orphanet	93556	http://www.orpha.net/ORDO/Orphanet_93556
Pediatric systemic lupus erythematosus	Pediatric systemic lupus erythematosus	Orphanet	93552	http://www.orpha.net/ORDO/Orphanet_93552
AFib amyloidosis	AFib amyloidosis	Orphanet	93562	http://www.orpha.net/ORDO/Orphanet_93562
Light chain deposition disease	Light chain deposition disease	Orphanet	93558	http://www.orpha.net/ORDO/Orphanet_93558
C3 deposition glomerulonephritis without proliferation	C3 deposition glomerulonephritis without proliferation	Orphanet	93559	http://www.orpha.net/ORDO/Orphanet_93559
AApoAI amyloidosis	AApoAI amyloidosis	Orphanet	93560	http://www.orpha.net/ORDO/Orphanet_93560
ALys amyloidosis	ALys amyloidosis	Orphanet	93561	http://www.orpha.net/ORDO/Orphanet_93561
Dense deposit disease	Dense deposit disease	Orphanet	93571	http://www.orpha.net/ORDO/Orphanet_93571
Thrombotic microangiopathy	Thrombotic microangiopathy	Orphanet	93573	http://www.orpha.net/ORDO/Orphanet_93573
Juvenile polymyositis	Juvenile polymyositis	Orphanet	93568	http://www.orpha.net/ORDO/Orphanet_93568
Polymyalgia rheumatica	Polymyalgia rheumatica	Orphanet	93569	http://www.orpha.net/ORDO/Orphanet_93569
Lysosomal storage disease with skeletal involvement	Lysosomal storage disease with skeletal involvement	Orphanet	93448	http://www.orpha.net/ORDO/Orphanet_93448
Primary bone dysplasia with defective bone mineralization	Primary bone dysplasia with defective bone mineralization	Orphanet	93447	http://www.orpha.net/ORDO/Orphanet_93447
Primary bone dysplasia with decreased bone density	Primary bone dysplasia with decreased bone density	Orphanet	93446	http://www.orpha.net/ORDO/Orphanet_93446
Primary bone dysplasia with increased bone density	Primary bone dysplasia with increased bone density	Orphanet	93444	http://www.orpha.net/ORDO/Orphanet_93444
Neonatal osteosclerotic dysplasia	Neonatal osteosclerotic dysplasia	Orphanet	93443	http://www.orpha.net/ORDO/Orphanet_93443
Chondrodysplasia punctata	Chondrodysplasia punctata	Orphanet	93442	http://www.orpha.net/ORDO/Orphanet_93442
Primary bone dysplasia with multiple joint dislocations	Primary bone dysplasia with multiple joint dislocations	Orphanet	93441	http://www.orpha.net/ORDO/Orphanet_93441
Patellar dysostosis	Patellar dysostosis	Orphanet	93455	http://www.orpha.net/ORDO/Orphanet_93455
Dysostosis with predominant vertebral and costal involvement	Dysostosis with predominant vertebral and costal involvement	Orphanet	93454	http://www.orpha.net/ORDO/Orphanet_93454
Dysostosis with predominant craniofacial involvement	Dysostosis with predominant craniofacial involvement	Orphanet	93453	http://www.orpha.net/ORDO/Orphanet_93453
Cleidocranial dysplasia and isolated cranial ossification defect	Cleidocranial dysplasia and isolated cranial ossification defect	Orphanet	93451	http://www.orpha.net/ORDO/Orphanet_93451
Primary bone dysplasia with disorganized development of skeletal components	Primary bone dysplasia with disorganized development of skeletal components	Orphanet	93450	http://www.orpha.net/ORDO/Orphanet_93450
Primary osteolysis	Primary osteolysis	Orphanet	93449	http://www.orpha.net/ORDO/Orphanet_93449
Lethal chondrodysplasia	Lethal chondrodysplasia	Orphanet	93465	http://www.orpha.net/ORDO/Orphanet_93465
Chromosomal disease with overgrowth	Chromosomal disease with overgrowth	Orphanet	93461	http://www.orpha.net/ORDO/Orphanet_93461
Syndrome with synostosis or other joint formation defect	Syndrome with synostosis or other joint formation defect	Orphanet	93459	http://www.orpha.net/ORDO/Orphanet_93459
Overgrowth syndrome	Overgrowth syndrome	Orphanet	93460	http://www.orpha.net/ORDO/Orphanet_93460
Non-syndromic limb reduction defect	Non-syndromic limb reduction defect	Orphanet	93457	http://www.orpha.net/ORDO/Orphanet_93457
Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	Orphanet	93458	http://www.orpha.net/ORDO/Orphanet_93458
Scheie syndrome	Scheie syndrome	Orphanet	93474	http://www.orpha.net/ORDO/Orphanet_93474
Hurler-Scheie syndrome	Hurler-Scheie syndrome	Orphanet	93476	http://www.orpha.net/ORDO/Orphanet_93476
Hurler syndrome	Hurler syndrome	Orphanet	93473	http://www.orpha.net/ORDO/Orphanet_93473
Juvenile sialidosis type 2	Juvenile sialidosis type 2	Orphanet	93399	http://www.orpha.net/ORDO/Orphanet_93399
Genochondromatosis type 2	Genochondromatosis type 2	Orphanet	93398	http://www.orpha.net/ORDO/Orphanet_93398
Congenital sialidosis type 2	Congenital sialidosis type 2	Orphanet	93400	http://www.orpha.net/ORDO/Orphanet_93400
Syndactyly type 2	Syndactyly type 2	Orphanet	93403	http://www.orpha.net/ORDO/Orphanet_93403
Syndactyly type 1	Syndactyly type 1	Orphanet	93402	http://www.orpha.net/ORDO/Orphanet_93402
Syndactyly type 4	Syndactyly type 4	Orphanet	93405	http://www.orpha.net/ORDO/Orphanet_93405
Syndactyly type 3	Syndactyly type 3	Orphanet	93404	http://www.orpha.net/ORDO/Orphanet_93404
Syndactyly type 5	Syndactyly type 5	Orphanet	93406	http://www.orpha.net/ORDO/Orphanet_93406
Brachydactyly-syndactyly, Zhao type	Brachydactyly-syndactyly, Zhao type	Orphanet	93409	http://www.orpha.net/ORDO/Orphanet_93409
Rare bone disease	Rare bone disease	Orphanet	93419	http://www.orpha.net/ORDO/Orphanet_93419
Type 2 collagen-related bone disorder	Type 2 collagen-related bone disorder	Orphanet	93421	http://www.orpha.net/ORDO/Orphanet_93421
FGFR3-related chondrodysplasia	FGFR3-related chondrodysplasia	Orphanet	93420	http://www.orpha.net/ORDO/Orphanet_93420
Type 11 collagen-related bone disorder	Type 11 collagen-related bone disorder	Orphanet	93422	http://www.orpha.net/ORDO/Orphanet_93422
Sulfation-related bone disorder	Sulfation-related bone disorder	Orphanet	93423	http://www.orpha.net/ORDO/Orphanet_93423
Perlecan-related bone disorder	Perlecan-related bone disorder	Orphanet	93424	http://www.orpha.net/ORDO/Orphanet_93424
Filamin-related bone disorder	Filamin-related bone disorder	Orphanet	93425	http://www.orpha.net/ORDO/Orphanet_93425
Ciliopathies with major skeletal involvement	Ciliopathies with major skeletal involvement	Orphanet	93426	http://www.orpha.net/ORDO/Orphanet_93426
Multiple epiphyseal dysplasia and pseudoachondroplasia	Multiple epiphyseal dysplasia and pseudoachondroplasia	Orphanet	93429	http://www.orpha.net/ORDO/Orphanet_93429
Multiple metaphyseal dysplasia	Multiple metaphyseal dysplasia	Orphanet	93430	http://www.orpha.net/ORDO/Orphanet_93430
Spondylodysplastic dysplasia	Spondylodysplastic dysplasia	Orphanet	93434	http://www.orpha.net/ORDO/Orphanet_93434
Acromelic dysplasia	Acromelic dysplasia	Orphanet	93436	http://www.orpha.net/ORDO/Orphanet_93436
Acromesomelic dysplasia	Acromesomelic dysplasia	Orphanet	93437	http://www.orpha.net/ORDO/Orphanet_93437
Mesomelic and rhizo-mesomelic dysplasia	Mesomelic and rhizo-mesomelic dysplasia	Orphanet	93438	http://www.orpha.net/ORDO/Orphanet_93438
Campomelic dysplasia and related disorders	Campomelic dysplasia and related disorders	Orphanet	93439	http://www.orpha.net/ORDO/Orphanet_93439
Slender bone dysplasia	Slender bone dysplasia	Orphanet	93440	http://www.orpha.net/ORDO/Orphanet_93440
Spondyloepimetaphyseal dysplasia with multiple dislocations	Spondyloepimetaphyseal dysplasia with multiple dislocations	Orphanet	93360	http://www.orpha.net/ORDO/Orphanet_93360
Spondyloepimetaphyseal dysplasia with joint laxity	Spondyloepimetaphyseal dysplasia with joint laxity	Orphanet	93359	http://www.orpha.net/ORDO/Orphanet_93359
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	Orphanet	93358	http://www.orpha.net/ORDO/Orphanet_93358
SPONASTRIME dysplasia	SPONASTRIME dysplasia	Orphanet	93357	http://www.orpha.net/ORDO/Orphanet_93357
Familial hypocalciuric hypercalcemia type 1	Familial hypocalciuric hypercalcemia type 1	Orphanet	93372	http://www.orpha.net/ORDO/Orphanet_93372
Brachydactyly type A6	Brachydactyly type A6	Orphanet	93382	http://www.orpha.net/ORDO/Orphanet_93382
Brachydactyly type B	Brachydactyly type B	Orphanet	93383	http://www.orpha.net/ORDO/Orphanet_93383
Brachydactyly type E	Brachydactyly type E	Orphanet	93387	http://www.orpha.net/ORDO/Orphanet_93387
Brachydactyly type A1	Brachydactyly type A1	Orphanet	93388	http://www.orpha.net/ORDO/Orphanet_93388
Brachydactyly type C	Brachydactyly type C	Orphanet	93384	http://www.orpha.net/ORDO/Orphanet_93384
NON RARE IN EUROPE: Brachydactyly type D	NON RARE IN EUROPE: Brachydactyly type D	Orphanet	93385	http://www.orpha.net/ORDO/Orphanet_93385
NON RARE IN EUROPE: Brachydactyly type A3	NON RARE IN EUROPE: Brachydactyly type A3	Orphanet	93393	http://www.orpha.net/ORDO/Orphanet_93393
Brachydactyly type A5	Brachydactyly type A5	Orphanet	93389	http://www.orpha.net/ORDO/Orphanet_93389
Brachydactyly type A2	Brachydactyly type A2	Orphanet	93396	http://www.orpha.net/ORDO/Orphanet_93396
Brachydactyly type A7	Brachydactyly type A7	Orphanet	93397	http://www.orpha.net/ORDO/Orphanet_93397
Brachydactyly type A4	Brachydactyly type A4	Orphanet	93394	http://www.orpha.net/ORDO/Orphanet_93394
Ballard syndrome	Ballard syndrome	Orphanet	93395	http://www.orpha.net/ORDO/Orphanet_93395
Meningocele	Meningocele	Orphanet	93968	http://www.orpha.net/ORDO/Orphanet_93968
Myelomeningocele	Myelomeningocele	Orphanet	93969	http://www.orpha.net/ORDO/Orphanet_93969
Blepharospasm-oromandibular dystonia syndrome	Blepharospasm-oromandibular dystonia syndrome	Orphanet	93964	http://www.orpha.net/ORDO/Orphanet_93964
Oromandibular dystonia	Oromandibular dystonia	Orphanet	93958	http://www.orpha.net/ORDO/Orphanet_93958
Uremic pruritus	Uremic pruritus	Orphanet	94059	http://www.orpha.net/ORDO/Orphanet_94059
NON RARE IN EUROPE: Coronary artery disease-hyperlipidemia-hypertension-diabetes-osteoporosis syndrome	NON RARE IN EUROPE: Coronary artery disease-hyperlipidemia-hypertension-diabetes-osteoporosis syndrome	Orphanet	94062	http://www.orpha.net/ORDO/Orphanet_94062
Neovascular glaucoma	Neovascular glaucoma	Orphanet	94058	http://www.orpha.net/ORDO/Orphanet_94058
Humero-ulnar synostosis	Humero-ulnar synostosis	Orphanet	94056	http://www.orpha.net/ORDO/Orphanet_94056
Renier-Gabreels-Jasper syndrome	Renier-Gabreels-Jasper syndrome	Orphanet	93975	http://www.orpha.net/ORDO/Orphanet_93975
Smith-Fineman-Myers syndrome	Smith-Fineman-Myers syndrome	Orphanet	93974	http://www.orpha.net/ORDO/Orphanet_93974
Anotia	Anotia	Orphanet	93976	http://www.orpha.net/ORDO/Orphanet_93976
Chudley-Lowry-Hoar syndrome	Chudley-Lowry-Hoar syndrome	Orphanet	93971	http://www.orpha.net/ORDO/Orphanet_93971
Holmes-Gang syndrome	Holmes-Gang syndrome	Orphanet	93970	http://www.orpha.net/ORDO/Orphanet_93970
Carpenter-Waziri syndrome	Carpenter-Waziri syndrome	Orphanet	93973	http://www.orpha.net/ORDO/Orphanet_93973
Juberg-Marsidi syndrome	Juberg-Marsidi syndrome	Orphanet	93972	http://www.orpha.net/ORDO/Orphanet_93972
FG syndrome type 1	FG syndrome type 1	Orphanet	93932	http://www.orpha.net/ORDO/Orphanet_93932
Bladder exstrophy	Bladder exstrophy	Orphanet	93930	http://www.orpha.net/ORDO/Orphanet_93930
Isolated epispadias	Isolated epispadias	Orphanet	93928	http://www.orpha.net/ORDO/Orphanet_93928
Cloacal exstrophy	Cloacal exstrophy	Orphanet	93929	http://www.orpha.net/ORDO/Orphanet_93929
Midline interhemispheric variant of holoprosencephaly	Midline interhemispheric variant of holoprosencephaly	Orphanet	93926	http://www.orpha.net/ORDO/Orphanet_93926
Lobar holoprosencephaly	Lobar holoprosencephaly	Orphanet	93924	http://www.orpha.net/ORDO/Orphanet_93924
Alobar holoprosencephaly	Alobar holoprosencephaly	Orphanet	93925	http://www.orpha.net/ORDO/Orphanet_93925
Schwannomatosis	Schwannomatosis	Orphanet	93921	http://www.orpha.net/ORDO/Orphanet_93921
Familial thyroglossal duct cyst	Familial thyroglossal duct cyst	Orphanet	93953	http://www.orpha.net/ORDO/Orphanet_93953
X-linked intellectual disability, Hedera type	X-linked intellectual disability, Hedera type	Orphanet	93952	http://www.orpha.net/ORDO/Orphanet_93952
X-linked intellectual disability, Sutherland-Haan type	X-linked intellectual disability, Sutherland-Haan type	Orphanet	93950	http://www.orpha.net/ORDO/Orphanet_93950
X-linked intellectual disability, Golabi-Ito-Hall type	X-linked intellectual disability, Golabi-Ito-Hall type	Orphanet	93947	http://www.orpha.net/ORDO/Orphanet_93947
Hamel cerebro-palato-cardiac syndrome	Hamel cerebro-palato-cardiac syndrome	Orphanet	93946	http://www.orpha.net/ORDO/Orphanet_93946
X-linked intellectual disability, Porteous type	X-linked intellectual disability, Porteous type	Orphanet	93945	http://www.orpha.net/ORDO/Orphanet_93945
X-linked intellectual disability, Fichera type	X-linked intellectual disability, Fichera type	Orphanet	93944	http://www.orpha.net/ORDO/Orphanet_93944
Corpus callosum dysgenesis-hypopituitarism syndrome	Corpus callosum dysgenesis-hypopituitarism syndrome	Orphanet	93943	http://www.orpha.net/ORDO/Orphanet_93943
Laryngotracheoesophageal cleft type 4	Laryngotracheoesophageal cleft type 4	Orphanet	93941	http://www.orpha.net/ORDO/Orphanet_93941
Laryngotracheoesophageal cleft type 3	Laryngotracheoesophageal cleft type 3	Orphanet	93940	http://www.orpha.net/ORDO/Orphanet_93940
Laryngotracheoesophageal cleft type 2	Laryngotracheoesophageal cleft type 2	Orphanet	93939	http://www.orpha.net/ORDO/Orphanet_93939
Laryngotracheoesophageal cleft type 1	Laryngotracheoesophageal cleft type 1	Orphanet	93938	http://www.orpha.net/ORDO/Orphanet_93938
Rare renal disease	Rare renal disease	Orphanet	93626	http://www.orpha.net/ORDO/Orphanet_93626
Autoinflammatory syndrome	Autoinflammatory syndrome	Orphanet	93665	http://www.orpha.net/ORDO/Orphanet_93665
Hemoglobin H disease	Hemoglobin H disease	Orphanet	93616	http://www.orpha.net/ORDO/Orphanet_93616
Rare cause of hypertension	Rare cause of hypertension	Orphanet	93618	http://www.orpha.net/ORDO/Orphanet_93618
Rare renal tumor	Rare renal tumor	Orphanet	93619	http://www.orpha.net/ORDO/Orphanet_93619
Dent disease type 1	Dent disease type 1	Orphanet	93622	http://www.orpha.net/ORDO/Orphanet_93622
Dent disease type 2	Dent disease type 2	Orphanet	93623	http://www.orpha.net/ORDO/Orphanet_93623
Juvenile dermatomyositis	Juvenile dermatomyositis	Orphanet	93672	http://www.orpha.net/ORDO/Orphanet_93672
Unicentric Castleman disease	Unicentric Castleman disease	Orphanet	93685	http://www.orpha.net/ORDO/Orphanet_93685
Rare developmental defect during embryogenesis	Rare developmental defect during embryogenesis	Orphanet	93890	http://www.orpha.net/ORDO/Orphanet_93890
Infantile nephronophthisis	Infantile nephronophthisis	Orphanet	93591	http://www.orpha.net/ORDO/Orphanet_93591
Juvenile nephronophthisis	Juvenile nephronophthisis	Orphanet	93592	http://www.orpha.net/ORDO/Orphanet_93592
Familial cystic renal disease	Familial cystic renal disease	Orphanet	93587	http://www.orpha.net/ORDO/Orphanet_93587
Late-onset nephronophthisis	Late-onset nephronophthisis	Orphanet	93589	http://www.orpha.net/ORDO/Orphanet_93589
Primary hyperoxaluria type 1	Primary hyperoxaluria type 1	Orphanet	93598	http://www.orpha.net/ORDO/Orphanet_93598
Nephropathy secondary to a storage or other metabolic disease	Nephropathy secondary to a storage or other metabolic disease	Orphanet	93593	http://www.orpha.net/ORDO/Orphanet_93593
Congenital thrombotic thrombocytopenic purpura	Congenital thrombotic thrombocytopenic purpura	Orphanet	93583	http://www.orpha.net/ORDO/Orphanet_93583
Acquired thrombotic thrombocytopenic purpura	Acquired thrombotic thrombocytopenic purpura	Orphanet	93585	http://www.orpha.net/ORDO/Orphanet_93585
Atypical hemolytic uremic syndrome with anti-factor H antibodies	Atypical hemolytic uremic syndrome with anti-factor H antibodies	Orphanet	93581	http://www.orpha.net/ORDO/Orphanet_93581
Distal renal tubular acidosis with anemia	Distal renal tubular acidosis with anemia	Orphanet	93610	http://www.orpha.net/ORDO/Orphanet_93610
Autosomal recessive distal renal tubular acidosis without deafness	Autosomal recessive distal renal tubular acidosis without deafness	Orphanet	93609	http://www.orpha.net/ORDO/Orphanet_93609
Autosomal dominant distal renal tubular acidosis	Autosomal dominant distal renal tubular acidosis	Orphanet	93608	http://www.orpha.net/ORDO/Orphanet_93608
Autosomal recessive proximal renal tubular acidosis	Autosomal recessive proximal renal tubular acidosis	Orphanet	93607	http://www.orpha.net/ORDO/Orphanet_93607
Hematological disorder with renal involvement	Hematological disorder with renal involvement	Orphanet	93614	http://www.orpha.net/ORDO/Orphanet_93614
Cystinuria type B	Cystinuria type B	Orphanet	93613	http://www.orpha.net/ORDO/Orphanet_93613
Cystinuria type A	Cystinuria type A	Orphanet	93612	http://www.orpha.net/ORDO/Orphanet_93612
Autosomal recessive distal renal tubular acidosis with deafness	Autosomal recessive distal renal tubular acidosis with deafness	Orphanet	93611	http://www.orpha.net/ORDO/Orphanet_93611
Xanthinuria type II	Xanthinuria type II	Orphanet	93602	http://www.orpha.net/ORDO/Orphanet_93602
Xanthinuria type I	Xanthinuria type I	Orphanet	93601	http://www.orpha.net/ORDO/Orphanet_93601
Primary hyperoxaluria type 3	Primary hyperoxaluria type 3	Orphanet	93600	http://www.orpha.net/ORDO/Orphanet_93600
Primary hyperoxaluria type 2	Primary hyperoxaluria type 2	Orphanet	93599	http://www.orpha.net/ORDO/Orphanet_93599
Nephrogenic syndrome of inappropriate antidiuresis	Nephrogenic syndrome of inappropriate antidiuresis	Orphanet	93606	http://www.orpha.net/ORDO/Orphanet_93606
Classic Bartter syndrome	Classic Bartter syndrome	Orphanet	93605	http://www.orpha.net/ORDO/Orphanet_93605
Antenatal Bartter syndrome	Antenatal Bartter syndrome	Orphanet	93604	http://www.orpha.net/ORDO/Orphanet_93604
Rare renal tubular disease	Rare renal tubular disease	Orphanet	93603	http://www.orpha.net/ORDO/Orphanet_93603
Interventricular septum aneurysm	Interventricular septum aneurysm	Orphanet	99092	http://www.orpha.net/ORDO/Orphanet_99092
Laubry-Pezzi syndrome	Laubry-Pezzi syndrome	Orphanet	99094	http://www.orpha.net/ORDO/Orphanet_99094
Coronary ostial stenosis or atresia	Coronary ostial stenosis or atresia	Orphanet	99087	http://www.orpha.net/ORDO/Orphanet_99087
Abnormal number of coronary ostia	Abnormal number of coronary ostia	Orphanet	99089	http://www.orpha.net/ORDO/Orphanet_99089
Malposition of a coronary ostium	Malposition of a coronary ostium	Orphanet	99090	http://www.orpha.net/ORDO/Orphanet_99090
Pulmonary artery hypoplasia	Pulmonary artery hypoplasia	Orphanet	99083	http://www.orpha.net/ORDO/Orphanet_99083
Peripheral pulmonary stenosis	Peripheral pulmonary stenosis	Orphanet	99084	http://www.orpha.net/ORDO/Orphanet_99084
Cervical aortic arch	Cervical aortic arch	Orphanet	99079	http://www.orpha.net/ORDO/Orphanet_99079
Right aortic arch	Right aortic arch	Orphanet	99081	http://www.orpha.net/ORDO/Orphanet_99081
Dysphagia lusoria	Dysphagia lusoria	Orphanet	99082	http://www.orpha.net/ORDO/Orphanet_99082
Persistent fifth aortic arch	Persistent fifth aortic arch	Orphanet	99076	http://www.orpha.net/ORDO/Orphanet_99076
Encircling double aortic arch	Encircling double aortic arch	Orphanet	99075	http://www.orpha.net/ORDO/Orphanet_99075
Neuhauser anomaly	Neuhauser anomaly	Orphanet	99078	http://www.orpha.net/ORDO/Orphanet_99078
Kommerell diverticulum	Kommerell diverticulum	Orphanet	99077	http://www.orpha.net/ORDO/Orphanet_99077
Congenital patent ductus arteriosus aneurysm	Congenital patent ductus arteriosus aneurysm	Orphanet	99072	http://www.orpha.net/ORDO/Orphanet_99072
Aorto-left ventricular tunnel	Aorto-left ventricular tunnel	Orphanet	99071	http://www.orpha.net/ORDO/Orphanet_99071
Complete atrioventricular septal defect-tetralogy of Fallot	Complete atrioventricular septal defect-tetralogy of Fallot	Orphanet	99068	http://www.orpha.net/ORDO/Orphanet_99068
Complete atrioventricular septal defect with ventricular hypoplasia	Complete atrioventricular septal defect with ventricular hypoplasia	Orphanet	99067	http://www.orpha.net/ORDO/Orphanet_99067
Aorto-right ventricular tunnel	Aorto-right ventricular tunnel	Orphanet	99070	http://www.orpha.net/ORDO/Orphanet_99070
Univentricular heart with single atrio-ventricular valve	Univentricular heart with single atrio-ventricular valve	Orphanet	99069	http://www.orpha.net/ORDO/Orphanet_99069
Straddling and/or overriding mitral valve	Straddling and/or overriding mitral valve	Orphanet	99064	http://www.orpha.net/ORDO/Orphanet_99064
Shone complex	Shone complex	Orphanet	99063	http://www.orpha.net/ORDO/Orphanet_99063
Congenital total pulmonary venous return anomaly	Congenital total pulmonary venous return anomaly	Orphanet	99125	http://www.orpha.net/ORDO/Orphanet_99125
Inferior vena cava interruption without azygos continuation	Inferior vena cava interruption without azygos continuation	Orphanet	99123	http://www.orpha.net/ORDO/Orphanet_99123
Congenital partial pulmonary venous return anomaly	Congenital partial pulmonary venous return anomaly	Orphanet	99124	http://www.orpha.net/ORDO/Orphanet_99124
Azygos continuation of the inferior vena cava	Azygos continuation of the inferior vena cava	Orphanet	99121	http://www.orpha.net/ORDO/Orphanet_99121
Congenital stenosis of the inferior vena cava	Congenital stenosis of the inferior vena cava	Orphanet	99122	http://www.orpha.net/ORDO/Orphanet_99122
Right inferior vena cava connecting to left-sided atrium	Right inferior vena cava connecting to left-sided atrium	Orphanet	99119	http://www.orpha.net/ORDO/Orphanet_99119
Persistent eustachian valve	Persistent eustachian valve	Orphanet	99120	http://www.orpha.net/ORDO/Orphanet_99120
Coronary sinus stenosis	Coronary sinus stenosis	Orphanet	99117	http://www.orpha.net/ORDO/Orphanet_99117
Coronary sinus atresia	Coronary sinus atresia	Orphanet	99118	http://www.orpha.net/ORDO/Orphanet_99118
Subaortic course of innominate vein	Subaortic course of innominate vein	Orphanet	99113	http://www.orpha.net/ORDO/Orphanet_99113
Agenesis of the superior vena cava	Agenesis of the superior vena cava	Orphanet	99114	http://www.orpha.net/ORDO/Orphanet_99114
Persistent left superior vena cava connecting to the roof of left-sided atrium	Persistent left superior vena cava connecting to the roof of left-sided atrium	Orphanet	99111	http://www.orpha.net/ORDO/Orphanet_99111
Absence of innominate vein	Absence of innominate vein	Orphanet	99112	http://www.orpha.net/ORDO/Orphanet_99112
Right superior vena cava connecting to left-sided atrium	Right superior vena cava connecting to left-sided atrium	Orphanet	99110	http://www.orpha.net/ORDO/Orphanet_99110
Persistent left superior vena cava connecting through coronary sinus to left-sided atrium	Persistent left superior vena cava connecting through coronary sinus to left-sided atrium	Orphanet	99109	http://www.orpha.net/ORDO/Orphanet_99109
NON RARE IN EUROPE: Patent foramen ovale	NON RARE IN EUROPE: Patent foramen ovale	Orphanet	99108	http://www.orpha.net/ORDO/Orphanet_99108
Atrial septal aneurysm	Atrial septal aneurysm	Orphanet	99107	http://www.orpha.net/ORDO/Orphanet_99107
Atrial septal defect, ostium primum type	Atrial septal defect, ostium primum type	Orphanet	99106	http://www.orpha.net/ORDO/Orphanet_99106
Atrial septal defect, sinus venosus type	Atrial septal defect, sinus venosus type	Orphanet	99105	http://www.orpha.net/ORDO/Orphanet_99105
Atrial septal defect, coronary sinus type	Atrial septal defect, coronary sinus type	Orphanet	99104	http://www.orpha.net/ORDO/Orphanet_99104
Atrial septal defect, ostium secundum type	Atrial septal defect, ostium secundum type	Orphanet	99103	http://www.orpha.net/ORDO/Orphanet_99103
Ectasia of the left atrial appendage	Ectasia of the left atrial appendage	Orphanet	99102	http://www.orpha.net/ORDO/Orphanet_99102
Ectasia of the right atrial appendage	Ectasia of the right atrial appendage	Orphanet	99101	http://www.orpha.net/ORDO/Orphanet_99101
Juxtaposition of the atrial appendages	Juxtaposition of the atrial appendages	Orphanet	99100	http://www.orpha.net/ORDO/Orphanet_99100
Cor triatriatum sinister	Cor triatriatum sinister	Orphanet	99099	http://www.orpha.net/ORDO/Orphanet_99099
Cor triatriatum dexter	Cor triatriatum dexter	Orphanet	99098	http://www.orpha.net/ORDO/Orphanet_99098
Congenital Gerbode defect	Congenital Gerbode defect	Orphanet	99095	http://www.orpha.net/ORDO/Orphanet_99095
NON RARE IN EUROPE: Hippocampal tauopathy in cerebral aging	NON RARE IN EUROPE: Hippocampal tauopathy in cerebral aging	Orphanet	99151	http://www.orpha.net/ORDO/Orphanet_99151
Acquired von Willebrand syndrome	Acquired von Willebrand syndrome	Orphanet	99147	http://www.orpha.net/ORDO/Orphanet_99147
6-phosphogluconate dehydrogenase deficiency	6-phosphogluconate dehydrogenase deficiency	Orphanet	99135	http://www.orpha.net/ORDO/Orphanet_99135
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction	Orphanet	99138	http://www.orpha.net/ORDO/Orphanet_99138
Unstable hemoglobin disease	Unstable hemoglobin disease	Orphanet	99139	http://www.orpha.net/ORDO/Orphanet_99139
Lymphedema-posterior choanal atresia syndrome	Lymphedema-posterior choanal atresia syndrome	Orphanet	99141	http://www.orpha.net/ORDO/Orphanet_99141
Congenital partial agenesis of pericardium	Congenital partial agenesis of pericardium	Orphanet	99130	http://www.orpha.net/ORDO/Orphanet_99130
Congenital complete agenesis of pericardium	Congenital complete agenesis of pericardium	Orphanet	99129	http://www.orpha.net/ORDO/Orphanet_99129
Pleuro-pericardial cyst	Pleuro-pericardial cyst	Orphanet	99131	http://www.orpha.net/ORDO/Orphanet_99131
48,XYYY syndrome	48,XYYY syndrome	Orphanet	99329	http://www.orpha.net/ORDO/Orphanet_99329
49,XYYYY syndrome	49,XYYYY syndrome	Orphanet	99330	http://www.orpha.net/ORDO/Orphanet_99330
Mosaic monosomy X	Mosaic monosomy X	Orphanet	99228	http://www.orpha.net/ORDO/Orphanet_99228
Paternal uniparental disomy of chromosome 13	Paternal uniparental disomy of chromosome 13	Orphanet	99324	http://www.orpha.net/ORDO/Orphanet_99324
Familial medullary thyroid carcinoma	Familial medullary thyroid carcinoma	Orphanet	99361	http://www.orpha.net/ORDO/Orphanet_99361
Isolated distichiasis	Isolated distichiasis	Orphanet	99177	http://www.orpha.net/ORDO/Orphanet_99177
Congenital eyelid retraction	Congenital eyelid retraction	Orphanet	99176	http://www.orpha.net/ORDO/Orphanet_99176
Monosomy X	Monosomy X	Orphanet	99226	http://www.orpha.net/ORDO/Orphanet_99226
Kandori fleck retina	Kandori fleck retina	Orphanet	99179	http://www.orpha.net/ORDO/Orphanet_99179
Tarsal kink syndrome	Tarsal kink syndrome	Orphanet	99170	http://www.orpha.net/ORDO/Orphanet_99170
Epiblepharon	Epiblepharon	Orphanet	99169	http://www.orpha.net/ORDO/Orphanet_99169
Euryblepharon	Euryblepharon	Orphanet	99172	http://www.orpha.net/ORDO/Orphanet_99172
Isolated congenital ectropion	Isolated congenital ectropion	Orphanet	99171	http://www.orpha.net/ORDO/Orphanet_99171
Primary dystonia, DYT2 type	Primary dystonia, DYT2 type	Orphanet	99657	http://www.orpha.net/ORDO/Orphanet_99657
NON RARE IN EUROPE: Ventral hernia	NON RARE IN EUROPE: Ventral hernia	Orphanet	99665	http://www.orpha.net/ORDO/Orphanet_99665
Complete androgen insensitivity syndrome	Complete androgen insensitivity syndrome	Orphanet	99429	http://www.orpha.net/ORDO/Orphanet_99429
Spondyloepimetaphyseal dysplasia, Handigodu type	Spondyloepimetaphyseal dysplasia, Handigodu type	Orphanet	99642	http://www.orpha.net/ORDO/Orphanet_99642
Pituitary adenoma	Pituitary adenoma	Orphanet	99408	http://www.orpha.net/ORDO/Orphanet_99408
Turner syndrome due to structural X chromosome anomalies	Turner syndrome due to structural X chromosome anomalies	Orphanet	99413	http://www.orpha.net/ORDO/Orphanet_99413
Cheirospondyloenchondromatosis	Cheirospondyloenchondromatosis	Orphanet	99647	http://www.orpha.net/ORDO/Orphanet_99647
Dappled diaphyseal dysplasia	Dappled diaphyseal dysplasia	Orphanet	99645	http://www.orpha.net/ORDO/Orphanet_99645
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria	Orphanet	99646	http://www.orpha.net/ORDO/Orphanet_99646
Dermotrichic syndrome	Dermotrichic syndrome	Orphanet	99688	http://www.orpha.net/ORDO/Orphanet_99688
Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome	Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome	Orphanet	99694	http://www.orpha.net/ORDO/Orphanet_99694
Fried's tooth and nail syndrome	Fried's tooth and nail syndrome	Orphanet	99672	http://www.orpha.net/ORDO/Orphanet_99672
MASS syndrome	MASS syndrome	Orphanet	99715	http://www.orpha.net/ORDO/Orphanet_99715
Leber plus disease	Leber plus disease	Orphanet	99718	http://www.orpha.net/ORDO/Orphanet_99718
Pituitary gigantism	Pituitary gigantism	Orphanet	99725	http://www.orpha.net/ORDO/Orphanet_99725
Mesial temporal lobe epilepsy with hippocampal sclerosis	Mesial temporal lobe epilepsy with hippocampal sclerosis	Orphanet	99701	http://www.orpha.net/ORDO/Orphanet_99701
Punctate acrokeratoderma freckle-like pigmentation	Punctate acrokeratoderma freckle-like pigmentation	Orphanet	99710	http://www.orpha.net/ORDO/Orphanet_99710
Atypical progressive supranuclear palsy syndrome	Atypical progressive supranuclear palsy syndrome	Orphanet	99750	http://www.orpha.net/ORDO/Orphanet_99750
Kostmann syndrome	Kostmann syndrome	Orphanet	99749	http://www.orpha.net/ORDO/Orphanet_99749
Pontiac fever	Pontiac fever	Orphanet	99748	http://www.orpha.net/ORDO/Orphanet_99748
Embryonal rhabdomyosarcoma	Embryonal rhabdomyosarcoma	Orphanet	99757	http://www.orpha.net/ORDO/Orphanet_99757
Alveolar rhabdomyosarcoma	Alveolar rhabdomyosarcoma	Orphanet	99756	http://www.orpha.net/ORDO/Orphanet_99756
Myotonia fluctuans	Myotonia fluctuans	Orphanet	99734	http://www.orpha.net/ORDO/Orphanet_99734
Isolated sulfite oxidase deficiency	Isolated sulfite oxidase deficiency	Orphanet	99731	http://www.orpha.net/ORDO/Orphanet_99731
Sulfite oxidase deficiency due to molybdenum cofactor deficiency	Sulfite oxidase deficiency due to molybdenum cofactor deficiency	Orphanet	99732	http://www.orpha.net/ORDO/Orphanet_99732
Myotonia permanens	Myotonia permanens	Orphanet	99735	http://www.orpha.net/ORDO/Orphanet_99735
Acetazolamide-responsive myotonia	Acetazolamide-responsive myotonia	Orphanet	99736	http://www.orpha.net/ORDO/Orphanet_99736
King-Denborough syndrome	King-Denborough syndrome	Orphanet	99741	http://www.orpha.net/ORDO/Orphanet_99741
Amish lethal microcephaly	Amish lethal microcephaly	Orphanet	99742	http://www.orpha.net/ORDO/Orphanet_99742
Rare familial disorder with hypertrophic cardiomyopathy	Rare familial disorder with hypertrophic cardiomyopathy	Orphanet	99739	http://www.orpha.net/ORDO/Orphanet_99739
Typhoid	Typhoid	Orphanet	99745	http://www.orpha.net/ORDO/Orphanet_99745
Familial focal epilepsy with variable foci	Familial focal epilepsy with variable foci	Orphanet	98820	http://www.orpha.net/ORDO/Orphanet_98820
Familial temporal lobe epilepsy	Familial temporal lobe epilepsy	Orphanet	98819	http://www.orpha.net/ORDO/Orphanet_98819
Landau-Kleffner syndrome	Landau-Kleffner syndrome	Orphanet	98818	http://www.orpha.net/ORDO/Orphanet_98818
Benign childhood occipital epilepsy, Gastaut type	Benign childhood occipital epilepsy, Gastaut type	Orphanet	98816	http://www.orpha.net/ORDO/Orphanet_98816
Benign childhood occipital epilepsy, Panayiotopoulos type	Benign childhood occipital epilepsy, Panayiotopoulos type	Orphanet	98815	http://www.orpha.net/ORDO/Orphanet_98815
Hypohidrotic ectodermal dysplasia with immunodeficiency	Hypohidrotic ectodermal dysplasia with immunodeficiency	Orphanet	98813	http://www.orpha.net/ORDO/Orphanet_98813
Paroxysmal hypnogenic dyskinesia	Paroxysmal hypnogenic dyskinesia	Orphanet	98812	http://www.orpha.net/ORDO/Orphanet_98812
Paroxysmal exertion-induced dyskinesia	Paroxysmal exertion-induced dyskinesia	Orphanet	98811	http://www.orpha.net/ORDO/Orphanet_98811
Paroxysmal non-kinesigenic dyskinesia	Paroxysmal non-kinesigenic dyskinesia	Orphanet	98810	http://www.orpha.net/ORDO/Orphanet_98810
Paroxysmal kinesigenic dyskinesia	Paroxysmal kinesigenic dyskinesia	Orphanet	98809	http://www.orpha.net/ORDO/Orphanet_98809
Autosomal dominant dopa-responsive dystonia	Autosomal dominant dopa-responsive dystonia	Orphanet	98808	http://www.orpha.net/ORDO/Orphanet_98808
Primary dystonia, DYT13 type	Primary dystonia, DYT13 type	Orphanet	98807	http://www.orpha.net/ORDO/Orphanet_98807
Acute biphenotypic leukemia	Acute biphenotypic leukemia	Orphanet	98837	http://www.orpha.net/ORDO/Orphanet_98837
Primary mediastinal large B-cell lymphoma	Primary mediastinal large B-cell lymphoma	Orphanet	98838	http://www.orpha.net/ORDO/Orphanet_98838
Acute undifferentiated leukemia	Acute undifferentiated leukemia	Orphanet	98835	http://www.orpha.net/ORDO/Orphanet_98835
Bilineal acute leukemia	Bilineal acute leukemia	Orphanet	98836	http://www.orpha.net/ORDO/Orphanet_98836
Acute myeloblastic leukemia without maturation	Acute myeloblastic leukemia without maturation	Orphanet	98833	http://www.orpha.net/ORDO/Orphanet_98833
Acute myeloblastic leukemia with maturation	Acute myeloblastic leukemia with maturation	Orphanet	98834	http://www.orpha.net/ORDO/Orphanet_98834
Acute myeloid leukemia with 11q23 abnormalities	Acute myeloid leukemia with 11q23 abnormalities	Orphanet	98831	http://www.orpha.net/ORDO/Orphanet_98831
Acute myeloid leukemia with minimal differentiation	Acute myeloid leukemia with minimal differentiation	Orphanet	98832	http://www.orpha.net/ORDO/Orphanet_98832
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	Orphanet	98829	http://www.orpha.net/ORDO/Orphanet_98829
Unclassified myelodysplastic syndrome	Unclassified myelodysplastic syndrome	Orphanet	98827	http://www.orpha.net/ORDO/Orphanet_98827
Unclassified myelodysplastic/myeloproliferative disease	Unclassified myelodysplastic/myeloproliferative disease	Orphanet	98825	http://www.orpha.net/ORDO/Orphanet_98825
Refractory anemia	Refractory anemia	Orphanet	98826	http://www.orpha.net/ORDO/Orphanet_98826
Chronic myelomonocytic leukemia	Chronic myelomonocytic leukemia	Orphanet	98823	http://www.orpha.net/ORDO/Orphanet_98823
Atypical chronic myeloid leukemia	Atypical chronic myeloid leukemia	Orphanet	98824	http://www.orpha.net/ORDO/Orphanet_98824
Desquamative interstitial pneumonia	Desquamative interstitial pneumonia	Orphanet	98852	http://www.orpha.net/ORDO/Orphanet_98852
Mast cell leukemia	Mast cell leukemia	Orphanet	98851	http://www.orpha.net/ORDO/Orphanet_98851
Autosomal dominant Emery-Dreifuss muscular dystrophy	Autosomal dominant Emery-Dreifuss muscular dystrophy	Orphanet	98853	http://www.orpha.net/ORDO/Orphanet_98853
Indolent systemic mastocytosis	Indolent systemic mastocytosis	Orphanet	98848	http://www.orpha.net/ORDO/Orphanet_98848
Aggressive systemic mastocytosis	Aggressive systemic mastocytosis	Orphanet	98850	http://www.orpha.net/ORDO/Orphanet_98850
Systemic mastocytosis with associated hematologic neoplasm	Systemic mastocytosis with associated hematologic neoplasm	Orphanet	98849	http://www.orpha.net/ORDO/Orphanet_98849
Classic Hodgkin lymphoma, mixed cellularity type	Classic Hodgkin lymphoma, mixed cellularity type	Orphanet	98844	http://www.orpha.net/ORDO/Orphanet_98844
Classic Hodgkin lymphoma, nodular sclerosis type	Classic Hodgkin lymphoma, nodular sclerosis type	Orphanet	98843	http://www.orpha.net/ORDO/Orphanet_98843
Classic Hodgkin lymphoma, lymphocyte-depleted type	Classic Hodgkin lymphoma, lymphocyte-depleted type	Orphanet	98846	http://www.orpha.net/ORDO/Orphanet_98846
Classic Hodgkin lymphoma, lymphocyte-rich type	Classic Hodgkin lymphoma, lymphocyte-rich type	Orphanet	98845	http://www.orpha.net/ORDO/Orphanet_98845
Intravascular large B-cell lymphoma	Intravascular large B-cell lymphoma	Orphanet	98839	http://www.orpha.net/ORDO/Orphanet_98839
Lymphomatoid papulosis	Lymphomatoid papulosis	Orphanet	98842	http://www.orpha.net/ORDO/Orphanet_98842
Anaplastic large cell lymphoma	Anaplastic large cell lymphoma	Orphanet	98841	http://www.orpha.net/ORDO/Orphanet_98841
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	Orphanet	98867	http://www.orpha.net/ORDO/Orphanet_98867
Southeast Asian ovalocytosis	Southeast Asian ovalocytosis	Orphanet	98868	http://www.orpha.net/ORDO/Orphanet_98868
Congenital dyserythropoietic anemia type I	Congenital dyserythropoietic anemia type I	Orphanet	98869	http://www.orpha.net/ORDO/Orphanet_98869
Congenital dyserythropoietic anemia type III	Congenital dyserythropoietic anemia type III	Orphanet	98870	http://www.orpha.net/ORDO/Orphanet_98870
X-linked Emery-Dreifuss muscular dystrophy	X-linked Emery-Dreifuss muscular dystrophy	Orphanet	98863	http://www.orpha.net/ORDO/Orphanet_98863
Common hereditary elliptocytosis	Common hereditary elliptocytosis	Orphanet	98864	http://www.orpha.net/ORDO/Orphanet_98864
Homozygous hereditary elliptocytosis	Homozygous hereditary elliptocytosis	Orphanet	98865	http://www.orpha.net/ORDO/Orphanet_98865
Primary ciliary dyskinesia, Kartagener type	Primary ciliary dyskinesia, Kartagener type	Orphanet	98861	http://www.orpha.net/ORDO/Orphanet_98861
Autosomal recessive Emery-Dreifuss muscular dystrophy	Autosomal recessive Emery-Dreifuss muscular dystrophy	Orphanet	98855	http://www.orpha.net/ORDO/Orphanet_98855
Charcot-Marie-Tooth disease type 2B1	Charcot-Marie-Tooth disease type 2B1	Orphanet	98856	http://www.orpha.net/ORDO/Orphanet_98856
Familial dysfibrinogenemia	Familial dysfibrinogenemia	Orphanet	98881	http://www.orpha.net/ORDO/Orphanet_98881
Familial afibrinogenemia	Familial afibrinogenemia	Orphanet	98880	http://www.orpha.net/ORDO/Orphanet_98880
Hemophilia B	Hemophilia B	Orphanet	98879	http://www.orpha.net/ORDO/Orphanet_98879
Bleeding diathesis due to integrin alpha2-beta1 deficiency	Bleeding diathesis due to integrin alpha2-beta1 deficiency	Orphanet	98886	http://www.orpha.net/ORDO/Orphanet_98886
Bleeding diathesis due to glycoprotein VI deficiency	Bleeding diathesis due to glycoprotein VI deficiency	Orphanet	98885	http://www.orpha.net/ORDO/Orphanet_98885
Congenital dyserythropoietic anemia type II	Congenital dyserythropoietic anemia type II	Orphanet	98873	http://www.orpha.net/ORDO/Orphanet_98873
Adult pure red cell aplasia	Adult pure red cell aplasia	Orphanet	98872	http://www.orpha.net/ORDO/Orphanet_98872
Transient erythroblastopenia of childhood	Transient erythroblastopenia of childhood	Orphanet	98871	http://www.orpha.net/ORDO/Orphanet_98871
Hemophilia A	Hemophilia A	Orphanet	98878	http://www.orpha.net/ORDO/Orphanet_98878
Oculopharyngodistal myopathy	Oculopharyngodistal myopathy	Orphanet	98897	http://www.orpha.net/ORDO/Orphanet_98897
Becker muscular dystrophy	Becker muscular dystrophy	Orphanet	98895	http://www.orpha.net/ORDO/Orphanet_98895
Duchenne muscular dystrophy	Duchenne muscular dystrophy	Orphanet	98896	http://www.orpha.net/ORDO/Orphanet_98896
Amish nemaline myopathy	Amish nemaline myopathy	Orphanet	98902	http://www.orpha.net/ORDO/Orphanet_98902
Bilateral perisylvian polymicrogyria	Bilateral perisylvian polymicrogyria	Orphanet	98889	http://www.orpha.net/ORDO/Orphanet_98889
Early-onset X-linked optic atrophy	Early-onset X-linked optic atrophy	Orphanet	98890	http://www.orpha.net/ORDO/Orphanet_98890
X-linked complex spastic paraplegia	X-linked complex spastic paraplegia	Orphanet	98888	http://www.orpha.net/ORDO/Orphanet_98888
Congenital muscular dystrophy type 1B	Congenital muscular dystrophy type 1B	Orphanet	98893	http://www.orpha.net/ORDO/Orphanet_98893
Congenital muscular dystrophy type 1D	Congenital muscular dystrophy type 1D	Orphanet	98894	http://www.orpha.net/ORDO/Orphanet_98894
Periventricular nodular heterotopia	Periventricular nodular heterotopia	Orphanet	98892	http://www.orpha.net/ORDO/Orphanet_98892
Late-onset distal myopathy, Markesbery-Griggs type	Late-onset distal myopathy, Markesbery-Griggs type	Orphanet	98912	http://www.orpha.net/ORDO/Orphanet_98912
Distal myotilinopathy	Distal myotilinopathy	Orphanet	98911	http://www.orpha.net/ORDO/Orphanet_98911
Presynaptic congenital myasthenic syndromes	Presynaptic congenital myasthenic syndromes	Orphanet	98914	http://www.orpha.net/ORDO/Orphanet_98914
Postsynaptic congenital myasthenic syndromes	Postsynaptic congenital myasthenic syndromes	Orphanet	98913	http://www.orpha.net/ORDO/Orphanet_98913
Acute inflammatory demyelinating polyradiculoneuropathy	Acute inflammatory demyelinating polyradiculoneuropathy	Orphanet	98916	http://www.orpha.net/ORDO/Orphanet_98916
Synaptic congenital myasthenic syndromes	Synaptic congenital myasthenic syndromes	Orphanet	98915	http://www.orpha.net/ORDO/Orphanet_98915
Acute motor axonal neuropathy	Acute motor axonal neuropathy	Orphanet	98918	http://www.orpha.net/ORDO/Orphanet_98918
Acute motor and sensory axonal neuropathy	Acute motor and sensory axonal neuropathy	Orphanet	98917	http://www.orpha.net/ORDO/Orphanet_98917
Congenital myopathy with excess of thin filaments	Congenital myopathy with excess of thin filaments	Orphanet	98904	http://www.orpha.net/ORDO/Orphanet_98904
Congenital multicore myopathy with external ophthalmoplegia	Congenital multicore myopathy with external ophthalmoplegia	Orphanet	98905	http://www.orpha.net/ORDO/Orphanet_98905
Neutral lipid storage myopathy	Neutral lipid storage myopathy	Orphanet	98908	http://www.orpha.net/ORDO/Orphanet_98908
Neutral lipid storage disease with ichthyosis	Neutral lipid storage disease with ichthyosis	Orphanet	98907	http://www.orpha.net/ORDO/Orphanet_98907
Alpha-crystallinopathy	Alpha-crystallinopathy	Orphanet	98910	http://www.orpha.net/ORDO/Orphanet_98910
Desminopathy	Desminopathy	Orphanet	98909	http://www.orpha.net/ORDO/Orphanet_98909
Multiple system atrophy, parkinsonian type	Multiple system atrophy, parkinsonian type	Orphanet	98933	http://www.orpha.net/ORDO/Orphanet_98933
Huntington disease-like 2	Huntington disease-like 2	Orphanet	98934	http://www.orpha.net/ORDO/Orphanet_98934
Miller Fisher syndrome	Miller Fisher syndrome	Orphanet	98919	http://www.orpha.net/ORDO/Orphanet_98919
Spinal muscular atrophy with respiratory distress type 1	Spinal muscular atrophy with respiratory distress type 1	Orphanet	98920	http://www.orpha.net/ORDO/Orphanet_98920
Blake pouch cyst	Blake pouch cyst	Orphanet	98922	http://www.orpha.net/ORDO/Orphanet_98922
Coloboma of choroid and retina	Coloboma of choroid and retina	Orphanet	98942	http://www.orpha.net/ORDO/Orphanet_98942
Colobomatous microphthalmia	Colobomatous microphthalmia	Orphanet	98938	http://www.orpha.net/ORDO/Orphanet_98938
Complete cryptophthalmia	Complete cryptophthalmia	Orphanet	98949	http://www.orpha.net/ORDO/Orphanet_98949
Partial cryptophthalmia	Partial cryptophthalmia	Orphanet	98950	http://www.orpha.net/ORDO/Orphanet_98950
Coloboma of optic disc	Coloboma of optic disc	Orphanet	98947	http://www.orpha.net/ORDO/Orphanet_98947
Congenital symblepharon	Congenital symblepharon	Orphanet	98948	http://www.orpha.net/ORDO/Orphanet_98948
Coloboma of macula	Coloboma of macula	Orphanet	98945	http://www.orpha.net/ORDO/Orphanet_98945
Coloboma of eyelid	Coloboma of eyelid	Orphanet	98946	http://www.orpha.net/ORDO/Orphanet_98946
Coloboma of eye lens	Coloboma of eye lens	Orphanet	98943	http://www.orpha.net/ORDO/Orphanet_98943
Coloboma of iris	Coloboma of iris	Orphanet	98944	http://www.orpha.net/ORDO/Orphanet_98944
Climatic droplet keratopathy	Climatic droplet keratopathy	Orphanet	98958	http://www.orpha.net/ORDO/Orphanet_98958
Gelatinous drop-like corneal dystrophy	Gelatinous drop-like corneal dystrophy	Orphanet	98957	http://www.orpha.net/ORDO/Orphanet_98957
Epithelial basement membrane dystrophy	Epithelial basement membrane dystrophy	Orphanet	98956	http://www.orpha.net/ORDO/Orphanet_98956
Lisch epithelial corneal dystrophy	Lisch epithelial corneal dystrophy	Orphanet	98955	http://www.orpha.net/ORDO/Orphanet_98955
Meesmann corneal dystrophy	Meesmann corneal dystrophy	Orphanet	98954	http://www.orpha.net/ORDO/Orphanet_98954
Inverse Marcus-Gunn phenomenon	Inverse Marcus-Gunn phenomenon	Orphanet	98951	http://www.orpha.net/ORDO/Orphanet_98951
Lattice corneal dystrophy type I	Lattice corneal dystrophy type I	Orphanet	98964	http://www.orpha.net/ORDO/Orphanet_98964
Granular corneal dystrophy type II	Granular corneal dystrophy type II	Orphanet	98963	http://www.orpha.net/ORDO/Orphanet_98963
Granular corneal dystrophy type I	Granular corneal dystrophy type I	Orphanet	98962	http://www.orpha.net/ORDO/Orphanet_98962
Reis-Bücklers corneal dystrophy	Reis-Bücklers corneal dystrophy	Orphanet	98961	http://www.orpha.net/ORDO/Orphanet_98961
Thiel-Behnke corneal dystrophy	Thiel-Behnke corneal dystrophy	Orphanet	98960	http://www.orpha.net/ORDO/Orphanet_98960
Subepithelial mucinous corneal dystrophy	Subepithelial mucinous corneal dystrophy	Orphanet	98959	http://www.orpha.net/ORDO/Orphanet_98959
Posterior amorphous corneal dystrophy	Posterior amorphous corneal dystrophy	Orphanet	98971	http://www.orpha.net/ORDO/Orphanet_98971
Central cloudy dystrophy of François	Central cloudy dystrophy of François	Orphanet	98972	http://www.orpha.net/ORDO/Orphanet_98972
Posterior polymorphous corneal dystrophy	Posterior polymorphous corneal dystrophy	Orphanet	98973	http://www.orpha.net/ORDO/Orphanet_98973
Fuchs endothelial corneal dystrophy	Fuchs endothelial corneal dystrophy	Orphanet	98974	http://www.orpha.net/ORDO/Orphanet_98974
Schnyder corneal dystrophy	Schnyder corneal dystrophy	Orphanet	98967	http://www.orpha.net/ORDO/Orphanet_98967
Central discoid corneal dystrophy	Central discoid corneal dystrophy	Orphanet	98968	http://www.orpha.net/ORDO/Orphanet_98968
Macular corneal dystrophy	Macular corneal dystrophy	Orphanet	98969	http://www.orpha.net/ORDO/Orphanet_98969
Fleck corneal dystrophy	Fleck corneal dystrophy	Orphanet	98970	http://www.orpha.net/ORDO/Orphanet_98970
Chandler syndrome	Chandler syndrome	Orphanet	98979	http://www.orpha.net/ORDO/Orphanet_98979
Cogan-Reese syndrome	Cogan-Reese syndrome	Orphanet	98980	http://www.orpha.net/ORDO/Orphanet_98980
Essential iris atrophy	Essential iris atrophy	Orphanet	98981	http://www.orpha.net/ORDO/Orphanet_98981
Congenital hereditary endothelial dystrophy type I	Congenital hereditary endothelial dystrophy type I	Orphanet	98975	http://www.orpha.net/ORDO/Orphanet_98975
Congenital glaucoma	Congenital glaucoma	Orphanet	98976	http://www.orpha.net/ORDO/Orphanet_98976
Juvenile glaucoma	Juvenile glaucoma	Orphanet	98977	http://www.orpha.net/ORDO/Orphanet_98977
Axenfeld anomaly	Axenfeld anomaly	Orphanet	98978	http://www.orpha.net/ORDO/Orphanet_98978
Early-onset anterior polar cataract	Early-onset anterior polar cataract	Orphanet	98988	http://www.orpha.net/ORDO/Orphanet_98988
Coralliform cataract	Coralliform cataract	Orphanet	98990	http://www.orpha.net/ORDO/Orphanet_98990
Cerulean cataract	Cerulean cataract	Orphanet	98989	http://www.orpha.net/ORDO/Orphanet_98989
Pulverulent cataract	Pulverulent cataract	Orphanet	98984	http://www.orpha.net/ORDO/Orphanet_98984
Early-onset sutural cataract	Early-onset sutural cataract	Orphanet	98985	http://www.orpha.net/ORDO/Orphanet_98985
Early-onset zonular cataract	Early-onset zonular cataract	Orphanet	98995	http://www.orpha.net/ORDO/Orphanet_98995
Early-onset partial cataract	Early-onset partial cataract	Orphanet	98992	http://www.orpha.net/ORDO/Orphanet_98992
Early-onset nuclear cataract	Early-onset nuclear cataract	Orphanet	98991	http://www.orpha.net/ORDO/Orphanet_98991
Total early-onset cataract	Total early-onset cataract	Orphanet	98994	http://www.orpha.net/ORDO/Orphanet_98994
Early-onset posterior polar cataract	Early-onset posterior polar cataract	Orphanet	98993	http://www.orpha.net/ORDO/Orphanet_98993
Butterfly-shaped pigment dystrophy	Butterfly-shaped pigment dystrophy	Orphanet	99001	http://www.orpha.net/ORDO/Orphanet_99001
Reticular dystrophy of the retinal pigment epithelium	Reticular dystrophy of the retinal pigment epithelium	Orphanet	99002	http://www.orpha.net/ORDO/Orphanet_99002
Adult-onset foveomacular vitelliform dystrophy	Adult-onset foveomacular vitelliform dystrophy	Orphanet	99000	http://www.orpha.net/ORDO/Orphanet_99000
Multifocal pattern dystrophy simulating fundus flavimaculatus	Multifocal pattern dystrophy simulating fundus flavimaculatus	Orphanet	99003	http://www.orpha.net/ORDO/Orphanet_99003
Fundus pulverulentus	Fundus pulverulentus	Orphanet	99004	http://www.orpha.net/ORDO/Orphanet_99004
Spastic paraplegia type 7	Spastic paraplegia type 7	Orphanet	99013	http://www.orpha.net/ORDO/Orphanet_99013
X-linked Charcot-Marie-Tooth disease type 5	X-linked Charcot-Marie-Tooth disease type 5	Orphanet	99014	http://www.orpha.net/ORDO/Orphanet_99014
Spastic paraplegia type 2	Spastic paraplegia type 2	Orphanet	99015	http://www.orpha.net/ORDO/Orphanet_99015
Adult-onset autosomal dominant leukodystrophy	Adult-onset autosomal dominant leukodystrophy	Orphanet	99027	http://www.orpha.net/ORDO/Orphanet_99027
Congenitally uncorrected transposition of the great arteries with coarctation	Congenitally uncorrected transposition of the great arteries with coarctation	Orphanet	99042	http://www.orpha.net/ORDO/Orphanet_99042
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis	Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis	Orphanet	99043	http://www.orpha.net/ORDO/Orphanet_99043
Double outlet right ventricle with subaortic ventricular septal defect	Double outlet right ventricle with subaortic ventricular septal defect	Orphanet	99044	http://www.orpha.net/ORDO/Orphanet_99044
Double outlet right ventricle with subpulmonary ventricular septal defect	Double outlet right ventricle with subpulmonary ventricular septal defect	Orphanet	99045	http://www.orpha.net/ORDO/Orphanet_99045
Double outlet right ventricle with non-committed subpulmonary ventricular septal defect	Double outlet right ventricle with non-committed subpulmonary ventricular septal defect	Orphanet	99046	http://www.orpha.net/ORDO/Orphanet_99046
Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome	Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome	Orphanet	99048	http://www.orpha.net/ORDO/Orphanet_99048
Double outlet right ventricle with doubly committed ventricular septal defect	Double outlet right ventricle with doubly committed ventricular septal defect	Orphanet	99047	http://www.orpha.net/ORDO/Orphanet_99047
Abnormal origin of right or left pulmonary artery from the aorta	Abnormal origin of right or left pulmonary artery from the aorta	Orphanet	99050	http://www.orpha.net/ORDO/Orphanet_99050
Pulmonary artery coming from patent ductus arteriosus	Pulmonary artery coming from patent ductus arteriosus	Orphanet	99049	http://www.orpha.net/ORDO/Orphanet_99049
Discrete fibromuscular subaortic stenosis	Discrete fibromuscular subaortic stenosis	Orphanet	99052	http://www.orpha.net/ORDO/Orphanet_99052
Discrete fixed membranous subaortic stenosis	Discrete fixed membranous subaortic stenosis	Orphanet	99051	http://www.orpha.net/ORDO/Orphanet_99051
Valvular pulmonary stenosis	Valvular pulmonary stenosis	Orphanet	99054	http://www.orpha.net/ORDO/Orphanet_99054
Tunnel subaortic stenosis	Tunnel subaortic stenosis	Orphanet	99053	http://www.orpha.net/ORDO/Orphanet_99053
Parachute tricuspid valve	Parachute tricuspid valve	Orphanet	99056	http://www.orpha.net/ORDO/Orphanet_99056
Congenital anomaly of the tricuspid valve chordae	Congenital anomaly of the tricuspid valve chordae	Orphanet	99055	http://www.orpha.net/ORDO/Orphanet_99055
Hypoplasia of the mitral valve annulus	Hypoplasia of the mitral valve annulus	Orphanet	99058	http://www.orpha.net/ORDO/Orphanet_99058
Congenital mitral stenosis	Congenital mitral stenosis	Orphanet	99057	http://www.orpha.net/ORDO/Orphanet_99057
Congenital unguarded mitral orifice	Congenital unguarded mitral orifice	Orphanet	99060	http://www.orpha.net/ORDO/Orphanet_99060
Congenital supravalvular mitral ring	Congenital supravalvular mitral ring	Orphanet	99059	http://www.orpha.net/ORDO/Orphanet_99059
Mitral valve agenesis	Mitral valve agenesis	Orphanet	99062	http://www.orpha.net/ORDO/Orphanet_99062
Accessory mitral valve tissue	Accessory mitral valve tissue	Orphanet	99061	http://www.orpha.net/ORDO/Orphanet_99061
EEC syndrome and related disorders	EEC syndrome and related disorders	Orphanet	98609	http://www.orpha.net/ORDO/Orphanet_98609
Rare disorder with conjunctival involvement as a major feature	Rare disorder with conjunctival involvement as a major feature	Orphanet	98610	http://www.orpha.net/ORDO/Orphanet_98610
Rare disorder of the lacrimal apparatus	Rare disorder of the lacrimal apparatus	Orphanet	98602	http://www.orpha.net/ORDO/Orphanet_98602
Lacrimal drainage system anomaly	Lacrimal drainage system anomaly	Orphanet	98605	http://www.orpha.net/ORDO/Orphanet_98605
Syndromic orbital border hypoplasia	Syndromic orbital border hypoplasia	Orphanet	98606	http://www.orpha.net/ORDO/Orphanet_98606
Congenital alacrima	Congenital alacrima	Orphanet	98604	http://www.orpha.net/ORDO/Orphanet_98604
Rare eyebrow/eyelash disorder	Rare eyebrow/eyelash disorder	Orphanet	98594	http://www.orpha.net/ORDO/Orphanet_98594
Syndromic telecanthus	Syndromic telecanthus	Orphanet	98575	http://www.orpha.net/ORDO/Orphanet_98575
Syndromic outer canthal malposition	Syndromic outer canthal malposition	Orphanet	98576	http://www.orpha.net/ORDO/Orphanet_98576
Rare disorder with ptosis	Rare disorder with ptosis	Orphanet	98578	http://www.orpha.net/ORDO/Orphanet_98578
Rare eyelid malposition disorder	Rare eyelid malposition disorder	Orphanet	98567	http://www.orpha.net/ORDO/Orphanet_98567
Congenital ectropion	Congenital ectropion	Orphanet	98570	http://www.orpha.net/ORDO/Orphanet_98570
Secondary ectropion	Secondary ectropion	Orphanet	98571	http://www.orpha.net/ORDO/Orphanet_98571
Syndromic epicanthus	Syndromic epicanthus	Orphanet	98574	http://www.orpha.net/ORDO/Orphanet_98574
Rare palpebral disorder	Rare palpebral disorder	Orphanet	98560	http://www.orpha.net/ORDO/Orphanet_98560
Cryptophthalmia	Cryptophthalmia	Orphanet	98562	http://www.orpha.net/ORDO/Orphanet_98562
Congenital malformation of the eyelid	Congenital malformation of the eyelid	Orphanet	98561	http://www.orpha.net/ORDO/Orphanet_98561
Eyelid border anomaly	Eyelid border anomaly	Orphanet	98564	http://www.orpha.net/ORDO/Orphanet_98564
Microblepharon-ablephara syndrome	Microblepharon-ablephara syndrome	Orphanet	98563	http://www.orpha.net/ORDO/Orphanet_98563
Syndromic eyelid coloboma	Syndromic eyelid coloboma	Orphanet	98566	http://www.orpha.net/ORDO/Orphanet_98566
Syndromic ankyloblepharon filiforme adnatum	Syndromic ankyloblepharon filiforme adnatum	Orphanet	98565	http://www.orpha.net/ORDO/Orphanet_98565
Developmental defect of the eye	Developmental defect of the eye	Orphanet	98553	http://www.orpha.net/ORDO/Orphanet_98553
Microphthalmia-anophthalmia-coloboma	Microphthalmia-anophthalmia-coloboma	Orphanet	98555	http://www.orpha.net/ORDO/Orphanet_98555
Syndromic aniridia	Syndromic aniridia	Orphanet	98557	http://www.orpha.net/ORDO/Orphanet_98557
Autosomal recessive isolated optic atrophy	Autosomal recessive isolated optic atrophy	Orphanet	98676	http://www.orpha.net/ORDO/Orphanet_98676
Autosomal dominant optic atrophy, classic form	Autosomal dominant optic atrophy, classic form	Orphanet	98673	http://www.orpha.net/ORDO/Orphanet_98673
Hereditary optic neuropathy	Hereditary optic neuropathy	Orphanet	98671	http://www.orpha.net/ORDO/Orphanet_98671
Autosomal dominant optic atrophy	Autosomal dominant optic atrophy	Orphanet	98672	http://www.orpha.net/ORDO/Orphanet_98672
Vitreoretinopathy	Vitreoretinopathy	Orphanet	98668	http://www.orpha.net/ORDO/Orphanet_98668
Syndromic rod-cone dystrophy	Syndromic rod-cone dystrophy	Orphanet	98661	http://www.orpha.net/ORDO/Orphanet_98661
Color-vision disease	Color-vision disease	Orphanet	98658	http://www.orpha.net/ORDO/Orphanet_98658
Lens shape anomaly	Lens shape anomaly	Orphanet	98655	http://www.orpha.net/ORDO/Orphanet_98655
Lens position anomaly	Lens position anomaly	Orphanet	98653	http://www.orpha.net/ORDO/Orphanet_98653
Lens size anomaly	Lens size anomaly	Orphanet	98652	http://www.orpha.net/ORDO/Orphanet_98652
Craniofacial anomaly with cataract	Craniofacial anomaly with cataract	Orphanet	98650	http://www.orpha.net/ORDO/Orphanet_98650
Dentocutaneous disease with cataract	Dentocutaneous disease with cataract	Orphanet	98649	http://www.orpha.net/ORDO/Orphanet_98649
Musculoskeletal disease with cataract	Musculoskeletal disease with cataract	Orphanet	98648	http://www.orpha.net/ORDO/Orphanet_98648
Metabolic disease with cataract	Metabolic disease with cataract	Orphanet	98644	http://www.orpha.net/ORDO/Orphanet_98644
Renal disease with cataract	Renal disease with cataract	Orphanet	98646	http://www.orpha.net/ORDO/Orphanet_98646
Rare lens disease	Rare lens disease	Orphanet	98639	http://www.orpha.net/ORDO/Orphanet_98639
Rare disorder with lens opacification	Rare disorder with lens opacification	Orphanet	98640	http://www.orpha.net/ORDO/Orphanet_98640
Syndromic cataract	Syndromic cataract	Orphanet	98641	http://www.orpha.net/ORDO/Orphanet_98641
Chromosomal anomaly with cataract	Chromosomal anomaly with cataract	Orphanet	98642	http://www.orpha.net/ORDO/Orphanet_98642
Corneodysgenesis	Corneodysgenesis	Orphanet	98635	http://www.orpha.net/ORDO/Orphanet_98635
Rare disease with glaucoma as a major feature	Rare disease with glaucoma as a major feature	Orphanet	98638	http://www.orpha.net/ORDO/Orphanet_98638
Congenital malformation of the eye with glaucoma as a major feature	Congenital malformation of the eye with glaucoma as a major feature	Orphanet	98631	http://www.orpha.net/ORDO/Orphanet_98631
Anterior segment developmental anomaly without extraocular manifestations	Anterior segment developmental anomaly without extraocular manifestations	Orphanet	98634	http://www.orpha.net/ORDO/Orphanet_98634
Syndromic corneal dystrophy	Syndromic corneal dystrophy	Orphanet	98628	http://www.orpha.net/ORDO/Orphanet_98628
Posterior corneal dystrophy	Posterior corneal dystrophy	Orphanet	98627	http://www.orpha.net/ORDO/Orphanet_98627
Syndromic keratoconus	Syndromic keratoconus	Orphanet	98623	http://www.orpha.net/ORDO/Orphanet_98623
Stromal corneal dystrophy	Stromal corneal dystrophy	Orphanet	98626	http://www.orpha.net/ORDO/Orphanet_98626
Superficial corneal dystrophy	Superficial corneal dystrophy	Orphanet	98625	http://www.orpha.net/ORDO/Orphanet_98625
Rare isolated myopia	Rare isolated myopia	Orphanet	98619	http://www.orpha.net/ORDO/Orphanet_98619
Syndromic hyperopia	Syndromic hyperopia	Orphanet	98622	http://www.orpha.net/ORDO/Orphanet_98622
Rare hyperopia and astigmatism	Rare hyperopia and astigmatism	Orphanet	98621	http://www.orpha.net/ORDO/Orphanet_98621
Rare refraction anomaly	Rare refraction anomaly	Orphanet	98618	http://www.orpha.net/ORDO/Orphanet_98618
Neu-laxova syndrome due to phosphoserine aminotransferase deficiency	Neu-laxova syndrome due to phosphoserine aminotransferase deficiency	Orphanet	583602	http://www.orpha.net/ORDO/Orphanet_583602
Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency	Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency	Orphanet	583607	http://www.orpha.net/ORDO/Orphanet_583607
Congenital pulmonary veins anomaly	Congenital pulmonary veins anomaly	Orphanet	98729	http://www.orpha.net/ORDO/Orphanet_98729
Serine biosynthesis pathway deficiency, infantile/juvenile form	Serine biosynthesis pathway deficiency, infantile/juvenile form	Orphanet	583595	http://www.orpha.net/ORDO/Orphanet_583595
Rare atrial defect and interatrial communication	Rare atrial defect and interatrial communication	Orphanet	98727	http://www.orpha.net/ORDO/Orphanet_98727
Noonan syndrome and Noonan-related syndrome	Noonan syndrome and Noonan-related syndrome	Orphanet	98733	http://www.orpha.net/ORDO/Orphanet_98733
Neu-laxova due to 3-phosphoserine phosphatase deficiency	Neu-laxova due to 3-phosphoserine phosphatase deficiency	Orphanet	583612	http://www.orpha.net/ORDO/Orphanet_583612
Congenital arteriovenous fistula	Congenital arteriovenous fistula	Orphanet	98731	http://www.orpha.net/ORDO/Orphanet_98731
Isolated splenic vein thrombosis	Isolated splenic vein thrombosis	Orphanet	583856	http://www.orpha.net/ORDO/Orphanet_583856
Neurological muscular channelopathy due to a genetic sodium channel defect	Neurological muscular channelopathy due to a genetic sodium channel defect	Orphanet	98738	http://www.orpha.net/ORDO/Orphanet_98738
Isolated mesenteric vein thrombosis	Isolated mesenteric vein thrombosis	Orphanet	583861	http://www.orpha.net/ORDO/Orphanet_583861
Genetic neurological muscular channelopathy	Genetic neurological muscular channelopathy	Orphanet	98737	http://www.orpha.net/ORDO/Orphanet_98737
Neurological muscular channelopathy due to a genetic ryanodine receptor defect	Neurological muscular channelopathy due to a genetic ryanodine receptor defect	Orphanet	98742	http://www.orpha.net/ORDO/Orphanet_98742
Neurological muscular channelopathy due to a genetic potassium channel defect	Neurological muscular channelopathy due to a genetic potassium channel defect	Orphanet	98741	http://www.orpha.net/ORDO/Orphanet_98741
Neurological muscular channelopathy due to a genetic calcium channel defect	Neurological muscular channelopathy due to a genetic calcium channel defect	Orphanet	98740	http://www.orpha.net/ORDO/Orphanet_98740
Neurological muscular channelopathy due to a genetic chloride channel defect	Neurological muscular channelopathy due to a genetic chloride channel defect	Orphanet	98739	http://www.orpha.net/ORDO/Orphanet_98739
Transposition of the great arteries and conotruncal cardiac anomaly	Transposition of the great arteries and conotruncal cardiac anomaly	Orphanet	98717	http://www.orpha.net/ORDO/Orphanet_98717
Aortic malformation	Aortic malformation	Orphanet	98718	http://www.orpha.net/ORDO/Orphanet_98718
Uveitis	Uveitis	Orphanet	98715	http://www.orpha.net/ORDO/Orphanet_98715
Heart position anomaly	Heart position anomaly	Orphanet	98716	http://www.orpha.net/ORDO/Orphanet_98716
Congenital tricuspid malformation	Congenital tricuspid malformation	Orphanet	98721	http://www.orpha.net/ORDO/Orphanet_98721
Atrioventricular septal defect	Atrioventricular septal defect	Orphanet	98722	http://www.orpha.net/ORDO/Orphanet_98722
Pulmonary artery or pulmonary branch anomaly	Pulmonary artery or pulmonary branch anomaly	Orphanet	98719	http://www.orpha.net/ORDO/Orphanet_98719
Atrioventricular valve anomaly	Atrioventricular valve anomaly	Orphanet	98720	http://www.orpha.net/ORDO/Orphanet_98720
Ascending aorta anomaly	Ascending aorta anomaly	Orphanet	98725	http://www.orpha.net/ORDO/Orphanet_98725
Hypoplastic right heart syndrome	Hypoplastic right heart syndrome	Orphanet	98723	http://www.orpha.net/ORDO/Orphanet_98723
Congenital anomaly of the great arteries	Congenital anomaly of the great arteries	Orphanet	98724	http://www.orpha.net/ORDO/Orphanet_98724
Oculocutaneous or ocular albinism	Oculocutaneous or ocular albinism	Orphanet	98706	http://www.orpha.net/ORDO/Orphanet_98706
Rare disorder with strabismus	Rare disorder with strabismus	Orphanet	98681	http://www.orpha.net/ORDO/Orphanet_98681
NON RARE IN EUROPE: Essential strabismus	NON RARE IN EUROPE: Essential strabismus	Orphanet	98682	http://www.orpha.net/ORDO/Orphanet_98682
Syndromic disorder with strabismus	Syndromic disorder with strabismus	Orphanet	98683	http://www.orpha.net/ORDO/Orphanet_98683
Craniostenosis with strabismus	Craniostenosis with strabismus	Orphanet	98684	http://www.orpha.net/ORDO/Orphanet_98684
Rare oculomotor nerve disorder	Rare oculomotor nerve disorder	Orphanet	98685	http://www.orpha.net/ORDO/Orphanet_98685
Congenital trochlear nerve palsy	Congenital trochlear nerve palsy	Orphanet	98686	http://www.orpha.net/ORDO/Orphanet_98686
Supranuclear eye movement disorder	Supranuclear eye movement disorder	Orphanet	98687	http://www.orpha.net/ORDO/Orphanet_98687
Oculomotor apraxia	Oculomotor apraxia	Orphanet	98688	http://www.orpha.net/ORDO/Orphanet_98688
Congenital infiltrating lipomatosis of the face	Congenital infiltrating lipomatosis of the face	Orphanet	583097	http://www.orpha.net/ORDO/Orphanet_583097
Isochromosomy Yq	Isochromosomy Yq	Orphanet	98798	http://www.orpha.net/ORDO/Orphanet_98798
Isochromosomy Yp	Isochromosomy Yp	Orphanet	98797	http://www.orpha.net/ORDO/Orphanet_98797
Angelman syndrome due to paternal uniparental disomy of chromosome 15	Angelman syndrome due to paternal uniparental disomy of chromosome 15	Orphanet	98795	http://www.orpha.net/ORDO/Orphanet_98795
Angelman syndrome due to maternal 15q11q13 deletion	Angelman syndrome due to maternal 15q11q13 deletion	Orphanet	98794	http://www.orpha.net/ORDO/Orphanet_98794
Prader-Willi syndrome due to paternal 15q11q13 deletion	Prader-Willi syndrome due to paternal 15q11q13 deletion	Orphanet	98793	http://www.orpha.net/ORDO/Orphanet_98793
Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	Orphanet	98791	http://www.orpha.net/ORDO/Orphanet_98791
Primary dystonia, DYT6 type	Primary dystonia, DYT6 type	Orphanet	98806	http://www.orpha.net/ORDO/Orphanet_98806
Primary dystonia, DYT4 type	Primary dystonia, DYT4 type	Orphanet	98805	http://www.orpha.net/ORDO/Orphanet_98805
Pitt-Rogers-Danks syndrome	Pitt-Rogers-Danks syndrome	Orphanet	98788	http://www.orpha.net/ORDO/Orphanet_98788
Autosomal dominant nocturnal frontal lobe epilepsy	Autosomal dominant nocturnal frontal lobe epilepsy	Orphanet	98784	http://www.orpha.net/ORDO/Orphanet_98784
Spinocerebellar ataxia type 27	Spinocerebellar ataxia type 27	Orphanet	98764	http://www.orpha.net/ORDO/Orphanet_98764
Spinocerebellar ataxia type 14	Spinocerebellar ataxia type 14	Orphanet	98763	http://www.orpha.net/ORDO/Orphanet_98763
Spinocerebellar ataxia type 5	Spinocerebellar ataxia type 5	Orphanet	98766	http://www.orpha.net/ORDO/Orphanet_98766
Spinocerebellar ataxia type 4	Spinocerebellar ataxia type 4	Orphanet	98765	http://www.orpha.net/ORDO/Orphanet_98765
Spinocerebellar ataxia type 8	Spinocerebellar ataxia type 8	Orphanet	98760	http://www.orpha.net/ORDO/Orphanet_98760
Spinocerebellar ataxia type 17	Spinocerebellar ataxia type 17	Orphanet	98759	http://www.orpha.net/ORDO/Orphanet_98759
Spinocerebellar ataxia type 12	Spinocerebellar ataxia type 12	Orphanet	98762	http://www.orpha.net/ORDO/Orphanet_98762
Spinocerebellar ataxia type 10	Spinocerebellar ataxia type 10	Orphanet	98761	http://www.orpha.net/ORDO/Orphanet_98761
Spinocerebellar ataxia type 19/22	Spinocerebellar ataxia type 19/22	Orphanet	98772	http://www.orpha.net/ORDO/Orphanet_98772
Spinocerebellar ataxia type 18	Spinocerebellar ataxia type 18	Orphanet	98771	http://www.orpha.net/ORDO/Orphanet_98771
Spinocerebellar ataxia type 21	Spinocerebellar ataxia type 21	Orphanet	98773	http://www.orpha.net/ORDO/Orphanet_98773
Spinocerebellar ataxia type 13	Spinocerebellar ataxia type 13	Orphanet	98768	http://www.orpha.net/ORDO/Orphanet_98768
Spinocerebellar ataxia type 11	Spinocerebellar ataxia type 11	Orphanet	98767	http://www.orpha.net/ORDO/Orphanet_98767
Spinocerebellar ataxia type 16	Spinocerebellar ataxia type 16	Orphanet	98770	http://www.orpha.net/ORDO/Orphanet_98770
Spinocerebellar ataxia type 15/16	Spinocerebellar ataxia type 15/16	Orphanet	98769	http://www.orpha.net/ORDO/Orphanet_98769
Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect	Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect	Orphanet	98747	http://www.orpha.net/ORDO/Orphanet_98747
QRICH1-related intellectual disability-chondrodysplasia syndrome	QRICH1-related intellectual disability-chondrodysplasia syndrome	Orphanet	580940	http://www.orpha.net/ORDO/Orphanet_580940
Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect	Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect	Orphanet	98748	http://www.orpha.net/ORDO/Orphanet_98748
Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect	Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect	Orphanet	98749	http://www.orpha.net/ORDO/Orphanet_98749
Punctate inner choroidopathy	Punctate inner choroidopathy	Orphanet	580951	http://www.orpha.net/ORDO/Orphanet_580951
Autoimmune neurological channelopathy	Autoimmune neurological channelopathy	Orphanet	98750	http://www.orpha.net/ORDO/Orphanet_98750
Genetic neurological channelopathy of the central nervous system	Genetic neurological channelopathy of the central nervous system	Orphanet	98743	http://www.orpha.net/ORDO/Orphanet_98743
Neurological channelopathy of the central nervous system due to a genetic sodium channel defect	Neurological channelopathy of the central nervous system due to a genetic sodium channel defect	Orphanet	98744	http://www.orpha.net/ORDO/Orphanet_98744
Lethal brain and heart developmental defects	Lethal brain and heart developmental defects	Orphanet	580933	http://www.orpha.net/ORDO/Orphanet_580933
Neurological channelopathy of the central nervous system due to a genetic calcium channel defect	Neurological channelopathy of the central nervous system due to a genetic calcium channel defect	Orphanet	98745	http://www.orpha.net/ORDO/Orphanet_98745
Neurological channelopathy of the central nervous system due to a genetic potassium channel defect	Neurological channelopathy of the central nervous system due to a genetic potassium channel defect	Orphanet	98746	http://www.orpha.net/ORDO/Orphanet_98746
Spinocerebellar ataxia type 1	Spinocerebellar ataxia type 1	Orphanet	98755	http://www.orpha.net/ORDO/Orphanet_98755
Spinocerebellar ataxia type 2	Spinocerebellar ataxia type 2	Orphanet	98756	http://www.orpha.net/ORDO/Orphanet_98756
Spinocerebellar ataxia type 3	Spinocerebellar ataxia type 3	Orphanet	98757	http://www.orpha.net/ORDO/Orphanet_98757
Spinocerebellar ataxia type 6	Spinocerebellar ataxia type 6	Orphanet	98758	http://www.orpha.net/ORDO/Orphanet_98758
Cramp-fasciculation syndrome	Cramp-fasciculation syndrome	Orphanet	581271	http://www.orpha.net/ORDO/Orphanet_581271
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	Orphanet	98754	http://www.orpha.net/ORDO/Orphanet_98754
Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature	Orphanet	98352	http://www.orpha.net/ORDO/Orphanet_98352
Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature	Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature	Orphanet	98353	http://www.orpha.net/ORDO/Orphanet_98353
Autosomal recessive isolated diffuse palmoplantar keratoderma	Autosomal recessive isolated diffuse palmoplantar keratoderma	Orphanet	98356	http://www.orpha.net/ORDO/Orphanet_98356
Autosomal recessive disease with focal palmoplantar keratoderma as a major feature	Autosomal recessive disease with focal palmoplantar keratoderma as a major feature	Orphanet	98357	http://www.orpha.net/ORDO/Orphanet_98357
Male infertility due to obstructive azoospermia	Male infertility due to obstructive azoospermia	Orphanet	98343	http://www.orpha.net/ORDO/Orphanet_98343
Rare idiopathic male infertility	Rare idiopathic male infertility	Orphanet	98345	http://www.orpha.net/ORDO/Orphanet_98345
Intraductal tubulopapillary neoplasm of pancreas	Intraductal tubulopapillary neoplasm of pancreas	Orphanet	580572	http://www.orpha.net/ORDO/Orphanet_580572
Autosomal dominant isolated diffuse palmoplantar keratoderma	Autosomal dominant isolated diffuse palmoplantar keratoderma	Orphanet	98349	http://www.orpha.net/ORDO/Orphanet_98349
Familial partial lipodystrophy	Familial partial lipodystrophy	Orphanet	98306	http://www.orpha.net/ORDO/Orphanet_98306
Genetic lipodystrophy	Genetic lipodystrophy	Orphanet	98305	http://www.orpha.net/ORDO/Orphanet_98305
Acquired lipodystrophy	Acquired lipodystrophy	Orphanet	98307	http://www.orpha.net/ORDO/Orphanet_98307
Laminopathy	Laminopathy	Orphanet	98301	http://www.orpha.net/ORDO/Orphanet_98301
Idiopathic interstitial pneumonia	Idiopathic interstitial pneumonia	Orphanet	98300	http://www.orpha.net/ORDO/Orphanet_98300
Male infertility due to gonadal dysgenesis	Male infertility due to gonadal dysgenesis	Orphanet	98313	http://www.orpha.net/ORDO/Orphanet_98313
Partial atrioventricular septal defect with ventricular hypoplasia	Partial atrioventricular septal defect with ventricular hypoplasia	Orphanet	576232	http://www.orpha.net/ORDO/Orphanet_576232
Partial atrioventricular septal defect without ventricular hypoplasia	Partial atrioventricular septal defect without ventricular hypoplasia	Orphanet	576235	http://www.orpha.net/ORDO/Orphanet_576235
Complete atrioventricular septal defect without ventricular hypoplasia	Complete atrioventricular septal defect without ventricular hypoplasia	Orphanet	576227	http://www.orpha.net/ORDO/Orphanet_576227
Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder	Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder	Orphanet	98396	http://www.orpha.net/ORDO/Orphanet_98396
Middle East respiratory syndrome	Middle East respiratory syndrome	Orphanet	576074	http://www.orpha.net/ORDO/Orphanet_576074
Cathepsin A-related arteriopathy-strokes-leukoencephalopathy	Cathepsin A-related arteriopathy-strokes-leukoencephalopathy	Orphanet	575553	http://www.orpha.net/ORDO/Orphanet_575553
Red cell aplasia	Red cell aplasia	Orphanet	98421	http://www.orpha.net/ORDO/Orphanet_98421
Genetic hemolytic uremic syndrome	Genetic hemolytic uremic syndrome	Orphanet	576742	http://www.orpha.net/ORDO/Orphanet_576742
Vitamin B12- and folate-independent constitutional megaloblastic anemia	Vitamin B12- and folate-independent constitutional megaloblastic anemia	Orphanet	98415	http://www.orpha.net/ORDO/Orphanet_98415
Iatrogenic Creutzfeldt-Jakob disease	Iatrogenic Creutzfeldt-Jakob disease	Orphanet	576379	http://www.orpha.net/ORDO/Orphanet_576379
Sporadic human prion disease	Sporadic human prion disease	Orphanet	576356	http://www.orpha.net/ORDO/Orphanet_576356
NLRC4-related familial cold autoinflammatory syndrome	NLRC4-related familial cold autoinflammatory syndrome	Orphanet	576349	http://www.orpha.net/ORDO/Orphanet_576349
Variant Creutzfeldt-Jakob disease	Variant Creutzfeldt-Jakob disease	Orphanet	576370	http://www.orpha.net/ORDO/Orphanet_576370
Acquired human prion disease	Acquired human prion disease	Orphanet	576360	http://www.orpha.net/ORDO/Orphanet_576360
Intermediate atrioventricular septal defect	Intermediate atrioventricular septal defect	Orphanet	576242	http://www.orpha.net/ORDO/Orphanet_576242
Constitutional megaloblastic anemia due to folate metabolism disorder	Constitutional megaloblastic anemia due to folate metabolism disorder	Orphanet	98408	http://www.orpha.net/ORDO/Orphanet_98408
SATB2-associated syndrome due to a pathogenic variant	SATB2-associated syndrome due to a pathogenic variant	Orphanet	576283	http://www.orpha.net/ORDO/Orphanet_576283
SATB2-associated syndrome	SATB2-associated syndrome	Orphanet	576278	http://www.orpha.net/ORDO/Orphanet_576278
Pheochromocytoma-paraganglioma	Pheochromocytoma-paraganglioma	Orphanet	573163	http://www.orpha.net/ORDO/Orphanet_573163
Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder	Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder	Orphanet	98374	http://www.orpha.net/ORDO/Orphanet_98374
Split cord malformation type II	Split cord malformation type II	Orphanet	573253	http://www.orpha.net/ORDO/Orphanet_573253
Hemolytic anemia due to a disorder of glycolytic enzymes	Hemolytic anemia due to a disorder of glycolytic enzymes	Orphanet	98372	http://www.orpha.net/ORDO/Orphanet_98372
Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies	Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies	Orphanet	98370	http://www.orpha.net/ORDO/Orphanet_98370
Rare constitutional hemolytic anemia due to an enzyme disorder	Rare constitutional hemolytic anemia due to an enzyme disorder	Orphanet	98369	http://www.orpha.net/ORDO/Orphanet_98369
Constitutional hemolytic anemia due to acanthocytosis	Constitutional hemolytic anemia due to acanthocytosis	Orphanet	98366	http://www.orpha.net/ORDO/Orphanet_98366
Hereditary stomatocytosis	Hereditary stomatocytosis	Orphanet	98365	http://www.orpha.net/ORDO/Orphanet_98365
Rare constitutional hemolytic anemia due to a red cell membrane anomaly	Rare constitutional hemolytic anemia due to a red cell membrane anomaly	Orphanet	98364	http://www.orpha.net/ORDO/Orphanet_98364
Rare hemolytic anemia	Rare hemolytic anemia	Orphanet	98363	http://www.orpha.net/ORDO/Orphanet_98363
Constitutional sideroblastic anemia	Constitutional sideroblastic anemia	Orphanet	98362	http://www.orpha.net/ORDO/Orphanet_98362
Constitutional anemia due to iron metabolism disorder	Constitutional anemia due to iron metabolism disorder	Orphanet	98360	http://www.orpha.net/ORDO/Orphanet_98360
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency	Orphanet	574957	http://www.orpha.net/ORDO/Orphanet_574957
Predisposition to severe viral infection due to IRF7 deficiency	Predisposition to severe viral infection due to IRF7 deficiency	Orphanet	574918	http://www.orpha.net/ORDO/Orphanet_574918
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia	Orphanet	98375	http://www.orpha.net/ORDO/Orphanet_98375
Split cord malformation	Split cord malformation	Orphanet	573278	http://www.orpha.net/ORDO/Orphanet_573278
Alpha granule disease	Alpha granule disease	Orphanet	98455	http://www.orpha.net/ORDO/Orphanet_98455
Dense granule disease	Dense granule disease	Orphanet	98456	http://www.orpha.net/ORDO/Orphanet_98456
X-linked syndromic intellectual disability	X-linked syndromic intellectual disability	Orphanet	98464	http://www.orpha.net/ORDO/Orphanet_98464
Skeletal muscle disease	Skeletal muscle disease	Orphanet	98472	http://www.orpha.net/ORDO/Orphanet_98472
Muscular dystrophy	Muscular dystrophy	Orphanet	98473	http://www.orpha.net/ORDO/Orphanet_98473
Idiopathic inflammatory myopathy	Idiopathic inflammatory myopathy	Orphanet	98482	http://www.orpha.net/ORDO/Orphanet_98482
Metabolic myopathy	Metabolic myopathy	Orphanet	98486	http://www.orpha.net/ORDO/Orphanet_98486
Brachydactyly type B1	Brachydactyly type B1	Orphanet	572385	http://www.orpha.net/ORDO/Orphanet_572385
Blepharophimosis-ptosis-epicanthus inversus syndrome type 2	Blepharophimosis-ptosis-epicanthus inversus syndrome type 2	Orphanet	572361	http://www.orpha.net/ORDO/Orphanet_572361
Rare coagulation disorder	Rare coagulation disorder	Orphanet	98429	http://www.orpha.net/ORDO/Orphanet_98429
Polycythemia	Polycythemia	Orphanet	98427	http://www.orpha.net/ORDO/Orphanet_98427
Secondary polycythemia	Secondary polycythemia	Orphanet	98428	http://www.orpha.net/ORDO/Orphanet_98428
Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia	Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia	Orphanet	572428	http://www.orpha.net/ORDO/Orphanet_572428
Hereditary combined deficiency of vitamin K-dependent clotting factors	Hereditary combined deficiency of vitamin K-dependent clotting factors	Orphanet	98434	http://www.orpha.net/ORDO/Orphanet_98434
RFVT2-related riboflavin transporter deficiency	RFVT2-related riboflavin transporter deficiency	Orphanet	572543	http://www.orpha.net/ORDO/Orphanet_572543
RFVT3-related riboflavin transporter deficiency	RFVT3-related riboflavin transporter deficiency	Orphanet	572550	http://www.orpha.net/ORDO/Orphanet_572550
Microcephaly-short stature-limb abnormalities syndrome	Microcephaly-short stature-limb abnormalities syndrome	Orphanet	572773	http://www.orpha.net/ORDO/Orphanet_572773
WARS2-related combined oxidative phosphorylation defect	WARS2-related combined oxidative phosphorylation defect	Orphanet	572798	http://www.orpha.net/ORDO/Orphanet_572798
DONSON-related microcephaly-short stature-limb abnormalities spectrum	DONSON-related microcephaly-short stature-limb abnormalities spectrum	Orphanet	572761	http://www.orpha.net/ORDO/Orphanet_572761
Microcephaly-micromelia syndrome	Microcephaly-micromelia syndrome	Orphanet	572768	http://www.orpha.net/ORDO/Orphanet_572768
Non-syndromic pontocerebellar hypoplasia	Non-syndromic pontocerebellar hypoplasia	Orphanet	98523	http://www.orpha.net/ORDO/Orphanet_98523
Posterior fossa malformation	Posterior fossa malformation	Orphanet	98519	http://www.orpha.net/ORDO/Orphanet_98519
Neurodegenerative disease with dementia	Neurodegenerative disease with dementia	Orphanet	98534	http://www.orpha.net/ORDO/Orphanet_98534
Late-onset ataxia with dementia	Late-onset ataxia with dementia	Orphanet	98540	http://www.orpha.net/ORDO/Orphanet_98540
Early-onset ataxia with dementia	Early-onset ataxia with dementia	Orphanet	98539	http://www.orpha.net/ORDO/Orphanet_98539
Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome	Orphanet	572013	http://www.orpha.net/ORDO/Orphanet_572013
Infectious disease with dementia	Infectious disease with dementia	Orphanet	98542	http://www.orpha.net/ORDO/Orphanet_98542
Frontotemporal degeneration with dementia	Frontotemporal degeneration with dementia	Orphanet	98535	http://www.orpha.net/ORDO/Orphanet_98535
Ataxia with dementia	Ataxia with dementia	Orphanet	98538	http://www.orpha.net/ORDO/Orphanet_98538
Blepharophimosis-ptosis-epicanthus inversus syndrome plus	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	Orphanet	572333	http://www.orpha.net/ORDO/Orphanet_572333
Blepharophimosis-ptosis-epicanthus inversus syndrome type 1	Blepharophimosis-ptosis-epicanthus inversus syndrome type 1	Orphanet	572354	http://www.orpha.net/ORDO/Orphanet_572354
Rare cerebrovascular dementia	Rare cerebrovascular dementia	Orphanet	98549	http://www.orpha.net/ORDO/Orphanet_98549
Cerebral lipidosis with dementia	Cerebral lipidosis with dementia	Orphanet	98544	http://www.orpha.net/ORDO/Orphanet_98544
Metabolic disease with dementia	Metabolic disease with dementia	Orphanet	98543	http://www.orpha.net/ORDO/Orphanet_98543
Infective endocarditis	Infective endocarditis	Orphanet	570762	http://www.orpha.net/ORDO/Orphanet_570762
Acquired neuromuscular junction disease	Acquired neuromuscular junction disease	Orphanet	98494	http://www.orpha.net/ORDO/Orphanet_98494
QRSL1-related combined oxidative phosphorylation defect	QRSL1-related combined oxidative phosphorylation defect	Orphanet	570491	http://www.orpha.net/ORDO/Orphanet_570491
Neuromuscular junction disease	Neuromuscular junction disease	Orphanet	98491	http://www.orpha.net/ORDO/Orphanet_98491
Ricin poisoning	Ricin poisoning	Orphanet	570470	http://www.orpha.net/ORDO/Orphanet_570470
HHV-8-associated multicentric Castleman disease	HHV-8-associated multicentric Castleman disease	Orphanet	570438	http://www.orpha.net/ORDO/Orphanet_570438
Idiopathic multicentric Castleman disease	Idiopathic multicentric Castleman disease	Orphanet	570431	http://www.orpha.net/ORDO/Orphanet_570431
Galactose mutarotase deficiency	Galactose mutarotase deficiency	Orphanet	570422	http://www.orpha.net/ORDO/Orphanet_570422
Transient antenatal Bartter syndrome	Transient antenatal Bartter syndrome	Orphanet	570371	http://www.orpha.net/ORDO/Orphanet_570371
Genetic peripheral neuropathy	Genetic peripheral neuropathy	Orphanet	98497	http://www.orpha.net/ORDO/Orphanet_98497
Genetic neuromuscular junction disease	Genetic neuromuscular junction disease	Orphanet	98495	http://www.orpha.net/ORDO/Orphanet_98495
Rare peripheral neuropathy	Rare peripheral neuropathy	Orphanet	98496	http://www.orpha.net/ORDO/Orphanet_98496
Acquired motor neuron disease	Acquired motor neuron disease	Orphanet	98506	http://www.orpha.net/ORDO/Orphanet_98506
Genetic motor neuron disease	Genetic motor neuron disease	Orphanet	98505	http://www.orpha.net/ORDO/Orphanet_98505
Motor neuron disease	Motor neuron disease	Orphanet	98503	http://www.orpha.net/ORDO/Orphanet_98503
Cranial nerve and nuclear aplasia	Cranial nerve and nuclear aplasia	Orphanet	98518	http://www.orpha.net/ORDO/Orphanet_98518
Malformation of the cerebellar hemispheres	Malformation of the cerebellar hemispheres	Orphanet	98516	http://www.orpha.net/ORDO/Orphanet_98516
Malformation of the cerebellar vermis	Malformation of the cerebellar vermis	Orphanet	98514	http://www.orpha.net/ORDO/Orphanet_98514
Syndromic anorectal malformation	Syndromic anorectal malformation	Orphanet	117573	http://www.orpha.net/ORDO/Orphanet_117573
Myopathic intestinal pseudoobstruction	Myopathic intestinal pseudoobstruction	Orphanet	104077	http://www.orpha.net/ORDO/Orphanet_104077
Leiomyosarcoma of small intestine	Leiomyosarcoma of small intestine	Orphanet	104076	http://www.orpha.net/ORDO/Orphanet_104076
Adenocarcinoma of the small instestine	Adenocarcinoma of the small instestine	Orphanet	104075	http://www.orpha.net/ORDO/Orphanet_104075
Metabolic disease with intestinal involvement	Metabolic disease with intestinal involvement	Orphanet	104013	http://www.orpha.net/ORDO/Orphanet_104013
Rare inflammatory bowel disease	Rare inflammatory bowel disease	Orphanet	104012	http://www.orpha.net/ORDO/Orphanet_104012
Rare tumor of intestine	Rare tumor of intestine	Orphanet	104011	http://www.orpha.net/ORDO/Orphanet_104011
Intestinal polyposis syndrome	Intestinal polyposis syndrome	Orphanet	104010	http://www.orpha.net/ORDO/Orphanet_104010
Rare disease involving intestinal motility	Rare disease involving intestinal motility	Orphanet	104009	http://www.orpha.net/ORDO/Orphanet_104009
Short bowel syndrome	Short bowel syndrome	Orphanet	104008	http://www.orpha.net/ORDO/Orphanet_104008
Congenital enteropathy involving intestinal mucosa development	Congenital enteropathy involving intestinal mucosa development	Orphanet	104007	http://www.orpha.net/ORDO/Orphanet_104007
Congenital intestinal disease due to an enzymatic defect	Congenital intestinal disease due to an enzymatic defect	Orphanet	104006	http://www.orpha.net/ORDO/Orphanet_104006
Intestinal disease due to fat malabsorption	Intestinal disease due to fat malabsorption	Orphanet	104005	http://www.orpha.net/ORDO/Orphanet_104005
Intestinal disease due to vitamin absorption anomaly	Intestinal disease due to vitamin absorption anomaly	Orphanet	104004	http://www.orpha.net/ORDO/Orphanet_104004
Congenital intestinal transport defect	Congenital intestinal transport defect	Orphanet	104003	http://www.orpha.net/ORDO/Orphanet_104003
Undetermined colitis	Undetermined colitis	Orphanet	103920	http://www.orpha.net/ORDO/Orphanet_103920
Autoimmune pancreatitis	Autoimmune pancreatitis	Orphanet	103919	http://www.orpha.net/ORDO/Orphanet_103919
Tropical pancreatitis	Tropical pancreatitis	Orphanet	103918	http://www.orpha.net/ORDO/Orphanet_103918
Congenital enterocyte heparan sulfate deficiency	Congenital enterocyte heparan sulfate deficiency	Orphanet	103910	http://www.orpha.net/ORDO/Orphanet_103910
Congenital sodium diarrhea	Congenital sodium diarrhea	Orphanet	103908	http://www.orpha.net/ORDO/Orphanet_103908
Trehalase deficiency	Trehalase deficiency	Orphanet	103909	http://www.orpha.net/ORDO/Orphanet_103909
Chronic diarrhea due to glucoamylase deficiency	Chronic diarrhea due to glucoamylase deficiency	Orphanet	103907	http://www.orpha.net/ORDO/Orphanet_103907
Acute myeloid leukemia with t(8;21)(q22;q22) translocation	Acute myeloid leukemia with t(8;21)(q22;q22) translocation	Orphanet	102724	http://www.orpha.net/ORDO/Orphanet_102724
Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent	Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent	Orphanet	102379	http://www.orpha.net/ORDO/Orphanet_102379
Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor	Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor	Orphanet	102381	http://www.orpha.net/ORDO/Orphanet_102381
Non-syndromic limb malformation	Non-syndromic limb malformation	Orphanet	109011	http://www.orpha.net/ORDO/Orphanet_109011
Syndrome with limb malformations as a major feature	Syndrome with limb malformations as a major feature	Orphanet	109009	http://www.orpha.net/ORDO/Orphanet_109009
Rare intestinal disease	Rare intestinal disease	Orphanet	117569	http://www.orpha.net/ORDO/Orphanet_117569
Arthrogryposis syndrome	Arthrogryposis syndrome	Orphanet	109007	http://www.orpha.net/ORDO/Orphanet_109007
Syndromic respiratory or mediastinal malformation	Syndromic respiratory or mediastinal malformation	Orphanet	108995	http://www.orpha.net/ORDO/Orphanet_108995
Non-syndromic respiratory or mediastinal malformation	Non-syndromic respiratory or mediastinal malformation	Orphanet	108993	http://www.orpha.net/ORDO/Orphanet_108993
Rare disorder due to toxic effects	Rare disorder due to toxic effects	Orphanet	108999	http://www.orpha.net/ORDO/Orphanet_108999
Rare anemia	Rare anemia	Orphanet	108997	http://www.orpha.net/ORDO/Orphanet_108997
Syndrome with a central nervous system malformation as a major feature	Syndrome with a central nervous system malformation as a major feature	Orphanet	108991	http://www.orpha.net/ORDO/Orphanet_108991
Non-syndromic central nervous system malformation	Non-syndromic central nervous system malformation	Orphanet	108989	http://www.orpha.net/ORDO/Orphanet_108989
Non-syndromic diaphragmatic or abdominal wall malformation	Non-syndromic diaphragmatic or abdominal wall malformation	Orphanet	108977	http://www.orpha.net/ORDO/Orphanet_108977
Syndromic diaphragmatic or abdominal wall malformation	Syndromic diaphragmatic or abdominal wall malformation	Orphanet	108979	http://www.orpha.net/ORDO/Orphanet_108979
Syndromic intestinal malformation	Syndromic intestinal malformation	Orphanet	108969	http://www.orpha.net/ORDO/Orphanet_108969
Non-syndromic visceral malformation	Non-syndromic visceral malformation	Orphanet	108971	http://www.orpha.net/ORDO/Orphanet_108971
Syndromic visceral malformation	Syndromic visceral malformation	Orphanet	108973	http://www.orpha.net/ORDO/Orphanet_108973
Syndromic esophageal malformation	Syndromic esophageal malformation	Orphanet	108961	http://www.orpha.net/ORDO/Orphanet_108961
Non-syndromic gastroduodenal malformation	Non-syndromic gastroduodenal malformation	Orphanet	108963	http://www.orpha.net/ORDO/Orphanet_108963
Syndromic gastroduodenal malformation	Syndromic gastroduodenal malformation	Orphanet	108965	http://www.orpha.net/ORDO/Orphanet_108965
Non-syndromic intestinal malformation	Non-syndromic intestinal malformation	Orphanet	108967	http://www.orpha.net/ORDO/Orphanet_108967
Unclassified intestinal pseudoobstruction	Unclassified intestinal pseudoobstruction	Orphanet	104078	http://www.orpha.net/ORDO/Orphanet_104078
Non-syndromic esophageal malformation	Non-syndromic esophageal malformation	Orphanet	108959	http://www.orpha.net/ORDO/Orphanet_108959
Periodic fever syndrome	Periodic fever syndrome	Orphanet	101995	http://www.orpha.net/ORDO/Orphanet_101995
Immunodeficiency due to a complement cascade protein anomaly	Immunodeficiency due to a complement cascade protein anomaly	Orphanet	101992	http://www.orpha.net/ORDO/Orphanet_101992
Rare epilepsy	Rare epilepsy	Orphanet	101998	http://www.orpha.net/ORDO/Orphanet_101998
Primary immunodeficiency	Primary immunodeficiency	Orphanet	101997	http://www.orpha.net/ORDO/Orphanet_101997
Rare ataxia	Rare ataxia	Orphanet	102002	http://www.orpha.net/ORDO/Orphanet_102002
Rare movement disorder	Rare movement disorder	Orphanet	102003	http://www.orpha.net/ORDO/Orphanet_102003
Medullar disease	Medullar disease	Orphanet	102000	http://www.orpha.net/ORDO/Orphanet_102000
Neurovascular malformation	Neurovascular malformation	Orphanet	102006	http://www.orpha.net/ORDO/Orphanet_102006
Brain inflammatory disease	Brain inflammatory disease	Orphanet	102005	http://www.orpha.net/ORDO/Orphanet_102005
Immunodeficiency predominantly affecting antibody production	Immunodeficiency predominantly affecting antibody production	Orphanet	101977	http://www.orpha.net/ORDO/Orphanet_101977
Constitutional neutropenia	Constitutional neutropenia	Orphanet	101987	http://www.orpha.net/ORDO/Orphanet_101987
Quantitative and/or qualitative congenital phagocyte defect	Quantitative and/or qualitative congenital phagocyte defect	Orphanet	101985	http://www.orpha.net/ORDO/Orphanet_101985
Primary immunodeficiency due to a defect in innate immunity	Primary immunodeficiency due to a defect in innate immunity	Orphanet	101988	http://www.orpha.net/ORDO/Orphanet_101988
Human herpesvirus 8-related disorder	Human herpesvirus 8-related disorder	Orphanet	102024	http://www.orpha.net/ORDO/Orphanet_102024
Unexplained periodic fever syndrome	Unexplained periodic fever syndrome	Orphanet	102237	http://www.orpha.net/ORDO/Orphanet_102237
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	Orphanet	102283	http://www.orpha.net/ORDO/Orphanet_102283
Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome	Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome	Orphanet	102284	http://www.orpha.net/ORDO/Orphanet_102284
Multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Orphanet	102285	http://www.orpha.net/ORDO/Orphanet_102285
Rare syndromic intellectual disability	Rare syndromic intellectual disability	Orphanet	102369	http://www.orpha.net/ORDO/Orphanet_102369
Classic lissencephaly	Classic lissencephaly	Orphanet	102009	http://www.orpha.net/ORDO/Orphanet_102009
Lissencephaly type 3	Lissencephaly type 3	Orphanet	102011	http://www.orpha.net/ORDO/Orphanet_102011
Other syndrome with lissencephaly as a major feature	Other syndrome with lissencephaly as a major feature	Orphanet	102010	http://www.orpha.net/ORDO/Orphanet_102010
Complex hereditary spastic paraplegia	Complex hereditary spastic paraplegia	Orphanet	102013	http://www.orpha.net/ORDO/Orphanet_102013
Pure hereditary spastic paraplegia	Pure hereditary spastic paraplegia	Orphanet	102012	http://www.orpha.net/ORDO/Orphanet_102012
Autosomal recessive limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy	Orphanet	102015	http://www.orpha.net/ORDO/Orphanet_102015
Autosomal dominant limb-girdle muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy	Orphanet	102014	http://www.orpha.net/ORDO/Orphanet_102014
Rickettsial disease	Rickettsial disease	Orphanet	102021	http://www.orpha.net/ORDO/Orphanet_102021
Autosomal monosomy	Autosomal monosomy	Orphanet	102020	http://www.orpha.net/ORDO/Orphanet_102020
Typhus-group rickettsiosis	Typhus-group rickettsiosis	Orphanet	102023	http://www.orpha.net/ORDO/Orphanet_102023
Spotted fever rickettsiosis	Spotted fever rickettsiosis	Orphanet	102022	http://www.orpha.net/ORDO/Orphanet_102022
Genetic cardiac rhythm disease	Genetic cardiac rhythm disease	Orphanet	101934	http://www.orpha.net/ORDO/Orphanet_101934
Anomaly of the mitral subvalvular apparatus	Anomaly of the mitral subvalvular apparatus	Orphanet	101932	http://www.orpha.net/ORDO/Orphanet_101932
Rare non-syndromic intellectual disability	Rare non-syndromic intellectual disability	Orphanet	101685	http://www.orpha.net/ORDO/Orphanet_101685
Rare hepatic and biliary tract tumor	Rare hepatic and biliary tract tumor	Orphanet	101943	http://www.orpha.net/ORDO/Orphanet_101943
Rare metabolic liver disease	Rare metabolic liver disease	Orphanet	101940	http://www.orpha.net/ORDO/Orphanet_101940
Rare biliary tract disease	Rare biliary tract disease	Orphanet	101941	http://www.orpha.net/ORDO/Orphanet_101941
Rare vascular liver disease	Rare vascular liver disease	Orphanet	101938	http://www.orpha.net/ORDO/Orphanet_101938
Rare parenchymal liver disease	Rare parenchymal liver disease	Orphanet	101939	http://www.orpha.net/ORDO/Orphanet_101939
Rare gastroesophageal disease	Rare gastroesophageal disease	Orphanet	101936	http://www.orpha.net/ORDO/Orphanet_101936
Rare pancreatic disease	Rare pancreatic disease	Orphanet	101937	http://www.orpha.net/ORDO/Orphanet_101937
Familial isolated congenital asplenia	Familial isolated congenital asplenia	Orphanet	101351	http://www.orpha.net/ORDO/Orphanet_101351
Rare genetic eye disease	Rare genetic eye disease	Orphanet	101435	http://www.orpha.net/ORDO/Orphanet_101435
Rare urogenital disease	Rare urogenital disease	Orphanet	101433	http://www.orpha.net/ORDO/Orphanet_101433
Genetic chronic primary adrenal insufficiency	Genetic chronic primary adrenal insufficiency	Orphanet	101960	http://www.orpha.net/ORDO/Orphanet_101960
Acquired chronic primary adrenal insufficiency	Acquired chronic primary adrenal insufficiency	Orphanet	101963	http://www.orpha.net/ORDO/Orphanet_101963
Combined T and B cell immunodeficiency	Combined T and B cell immunodeficiency	Orphanet	101972	http://www.orpha.net/ORDO/Orphanet_101972
Rare eye tumor	Rare eye tumor	Orphanet	101950	http://www.orpha.net/ORDO/Orphanet_101950
Rare bronchopulmonary tumor	Rare bronchopulmonary tumor	Orphanet	101945	http://www.orpha.net/ORDO/Orphanet_101945
Rare pulmonary disease	Rare pulmonary disease	Orphanet	101944	http://www.orpha.net/ORDO/Orphanet_101944
Pituitary deficiency	Pituitary deficiency	Orphanet	101957	http://www.orpha.net/ORDO/Orphanet_101957
Polyendocrinopathy	Polyendocrinopathy	Orphanet	101956	http://www.orpha.net/ORDO/Orphanet_101956
Chronic primary adrenal insufficiency	Chronic primary adrenal insufficiency	Orphanet	101959	http://www.orpha.net/ORDO/Orphanet_101959
Primary adrenal insufficiency	Primary adrenal insufficiency	Orphanet	101958	http://www.orpha.net/ORDO/Orphanet_101958
Rare dyslipidemia	Rare dyslipidemia	Orphanet	101953	http://www.orpha.net/ORDO/Orphanet_101953
Rare diabetes mellitus	Rare diabetes mellitus	Orphanet	101952	http://www.orpha.net/ORDO/Orphanet_101952
Rare thyroid disease	Rare thyroid disease	Orphanet	101955	http://www.orpha.net/ORDO/Orphanet_101955
Rare adrenal disease	Rare adrenal disease	Orphanet	101954	http://www.orpha.net/ORDO/Orphanet_101954
Autosomal recessive dopa-responsive dystonia	Autosomal recessive dopa-responsive dystonia	Orphanet	101150	http://www.orpha.net/ORDO/Orphanet_101150
Dystonia 14	Dystonia 14	Orphanet	101151	http://www.orpha.net/ORDO/Orphanet_101151
Spinocerebellar ataxia type 25	Spinocerebellar ataxia type 25	Orphanet	101111	http://www.orpha.net/ORDO/Orphanet_101111
Spinocerebellar ataxia type 26	Spinocerebellar ataxia type 26	Orphanet	101112	http://www.orpha.net/ORDO/Orphanet_101112
Spinocerebellar ataxia type 28	Spinocerebellar ataxia type 28	Orphanet	101109	http://www.orpha.net/ORDO/Orphanet_101109
Spinocerebellar ataxia type 20	Spinocerebellar ataxia type 20	Orphanet	101110	http://www.orpha.net/ORDO/Orphanet_101110
Spinocerebellar ataxia type 22	Spinocerebellar ataxia type 22	Orphanet	101107	http://www.orpha.net/ORDO/Orphanet_101107
Spinocerebellar ataxia type 23	Spinocerebellar ataxia type 23	Orphanet	101108	http://www.orpha.net/ORDO/Orphanet_101108
African tick typhus	African tick typhus	Orphanet	101334	http://www.orpha.net/ORDO/Orphanet_101334
Porphyria cutanea tarda	Porphyria cutanea tarda	Orphanet	101330	http://www.orpha.net/ORDO/Orphanet_101330
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome	Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome	Orphanet	101206	http://www.orpha.net/ORDO/Orphanet_101206
Charcot-Marie-Tooth disease type 1F	Charcot-Marie-Tooth disease type 1F	Orphanet	101085	http://www.orpha.net/ORDO/Orphanet_101085
X-linked hyper-IgM syndrome	X-linked hyper-IgM syndrome	Orphanet	101088	http://www.orpha.net/ORDO/Orphanet_101088
Charcot-Marie-Tooth disease type 1A	Charcot-Marie-Tooth disease type 1A	Orphanet	101081	http://www.orpha.net/ORDO/Orphanet_101081
Charcot-Marie-Tooth disease type 1B	Charcot-Marie-Tooth disease type 1B	Orphanet	101082	http://www.orpha.net/ORDO/Orphanet_101082
Charcot-Marie-Tooth disease type 1C	Charcot-Marie-Tooth disease type 1C	Orphanet	101083	http://www.orpha.net/ORDO/Orphanet_101083
Charcot-Marie-Tooth disease type 1D	Charcot-Marie-Tooth disease type 1D	Orphanet	101084	http://www.orpha.net/ORDO/Orphanet_101084
X-linked Charcot-Marie-Tooth disease type 3	X-linked Charcot-Marie-Tooth disease type 3	Orphanet	101077	http://www.orpha.net/ORDO/Orphanet_101077
X-linked Charcot-Marie-Tooth disease type 4	X-linked Charcot-Marie-Tooth disease type 4	Orphanet	101078	http://www.orpha.net/ORDO/Orphanet_101078
X-linked Charcot-Marie-Tooth disease type 1	X-linked Charcot-Marie-Tooth disease type 1	Orphanet	101075	http://www.orpha.net/ORDO/Orphanet_101075
X-linked Charcot-Marie-Tooth disease type 2	X-linked Charcot-Marie-Tooth disease type 2	Orphanet	101076	http://www.orpha.net/ORDO/Orphanet_101076
Charcot-Marie-Tooth disease type 2H	Charcot-Marie-Tooth disease type 2H	Orphanet	101102	http://www.orpha.net/ORDO/Orphanet_101102
Charcot-Marie-Tooth disease type 2B2	Charcot-Marie-Tooth disease type 2B2	Orphanet	101101	http://www.orpha.net/ORDO/Orphanet_101101
Marin-Amat syndrome	Marin-Amat syndrome	Orphanet	101104	http://www.orpha.net/ORDO/Orphanet_101104
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness	Orphanet	101097	http://www.orpha.net/ORDO/Orphanet_101097
Aregenerative anemia	Aregenerative anemia	Orphanet	101096	http://www.orpha.net/ORDO/Orphanet_101096
Hyper-IgM syndrome type 3	Hyper-IgM syndrome type 3	Orphanet	101090	http://www.orpha.net/ORDO/Orphanet_101090
Hyper-IgM syndrome type 2	Hyper-IgM syndrome type 2	Orphanet	101089	http://www.orpha.net/ORDO/Orphanet_101089
Hyper-IgM syndrome type 5	Hyper-IgM syndrome type 5	Orphanet	101092	http://www.orpha.net/ORDO/Orphanet_101092
Hyper-IgM syndrome type 4	Hyper-IgM syndrome type 4	Orphanet	101091	http://www.orpha.net/ORDO/Orphanet_101091
Familial hypocalciuric hypercalcemia type 2	Familial hypocalciuric hypercalcemia type 2	Orphanet	101049	http://www.orpha.net/ORDO/Orphanet_101049
Familial hypocalciuric hypercalcemia type 3	Familial hypocalciuric hypercalcemia type 3	Orphanet	101050	http://www.orpha.net/ORDO/Orphanet_101050
Congenital aortic valve dysplasia	Congenital aortic valve dysplasia	Orphanet	101043	http://www.orpha.net/ORDO/Orphanet_101043
Familial hypofibrinogenemia	Familial hypofibrinogenemia	Orphanet	101041	http://www.orpha.net/ORDO/Orphanet_101041
Autosomal dominant epilepsy with auditory features	Autosomal dominant epilepsy with auditory features	Orphanet	101046	http://www.orpha.net/ORDO/Orphanet_101046
Congenital stromal corneal dystrophy	Congenital stromal corneal dystrophy	Orphanet	101068	http://www.orpha.net/ORDO/Orphanet_101068
Unilateral hemispheric polymicrogyria	Unilateral hemispheric polymicrogyria	Orphanet	101071	http://www.orpha.net/ORDO/Orphanet_101071
Bilateral frontoparietal polymicrogyria	Bilateral frontoparietal polymicrogyria	Orphanet	101070	http://www.orpha.net/ORDO/Orphanet_101070
Situs inversus totalis	Situs inversus totalis	Orphanet	101063	http://www.orpha.net/ORDO/Orphanet_101063
Mediterranean macrothrombocytopenia	Mediterranean macrothrombocytopenia	Orphanet	101022	http://www.orpha.net/ORDO/Orphanet_101022
Cleft hard palate	Cleft hard palate	Orphanet	101023	http://www.orpha.net/ORDO/Orphanet_101023
Autosomal dominant spastic paraplegia type 29	Autosomal dominant spastic paraplegia type 29	Orphanet	101009	http://www.orpha.net/ORDO/Orphanet_101009
Autosomal spastic paraplegia type 30	Autosomal spastic paraplegia type 30	Orphanet	101010	http://www.orpha.net/ORDO/Orphanet_101010
Autosomal dominant spastic paraplegia type 31	Autosomal dominant spastic paraplegia type 31	Orphanet	101011	http://www.orpha.net/ORDO/Orphanet_101011
Romano-Ward syndrome	Romano-Ward syndrome	Orphanet	101016	http://www.orpha.net/ORDO/Orphanet_101016
Female restricted epilepsy with intellectual disability	Female restricted epilepsy with intellectual disability	Orphanet	101039	http://www.orpha.net/ORDO/Orphanet_101039
Transaldolase deficiency	Transaldolase deficiency	Orphanet	101028	http://www.orpha.net/ORDO/Orphanet_101028
Subependymal nodular heterotopia	Subependymal nodular heterotopia	Orphanet	101030	http://www.orpha.net/ORDO/Orphanet_101030
Sub-cortical nodular heterotopia	Sub-cortical nodular heterotopia	Orphanet	101029	http://www.orpha.net/ORDO/Orphanet_101029
Autosomal dominant spastic paraplegia type 3	Autosomal dominant spastic paraplegia type 3	Orphanet	100984	http://www.orpha.net/ORDO/Orphanet_100984
Autosomal recessive pure spastic paraplegia	Autosomal recessive pure spastic paraplegia	Orphanet	100982	http://www.orpha.net/ORDO/Orphanet_100982
Autosomal recessive complex spastic paraplegia	Autosomal recessive complex spastic paraplegia	Orphanet	100981	http://www.orpha.net/ORDO/Orphanet_100981
Autosomal dominant pure spastic paraplegia	Autosomal dominant pure spastic paraplegia	Orphanet	100980	http://www.orpha.net/ORDO/Orphanet_100980
Autosomal dominant complex spastic paraplegia	Autosomal dominant complex spastic paraplegia	Orphanet	100979	http://www.orpha.net/ORDO/Orphanet_100979
Cloverleaf skull-asphyxiating thoracic dysplasia syndrome	Cloverleaf skull-asphyxiating thoracic dysplasia syndrome	Orphanet	100978	http://www.orpha.net/ORDO/Orphanet_100978
Autosomal dominant spastic paraplegia type 10	Autosomal dominant spastic paraplegia type 10	Orphanet	100991	http://www.orpha.net/ORDO/Orphanet_100991
Autosomal dominant spastic paraplegia type 8	Autosomal dominant spastic paraplegia type 8	Orphanet	100989	http://www.orpha.net/ORDO/Orphanet_100989
Autosomal dominant spastic paraplegia type 6	Autosomal dominant spastic paraplegia type 6	Orphanet	100988	http://www.orpha.net/ORDO/Orphanet_100988
Autosomal recessive spastic paraplegia type 5A	Autosomal recessive spastic paraplegia type 5A	Orphanet	100986	http://www.orpha.net/ORDO/Orphanet_100986
Autosomal dominant spastic paraplegia type 4	Autosomal dominant spastic paraplegia type 4	Orphanet	100985	http://www.orpha.net/ORDO/Orphanet_100985
Autosomal dominant spastic paraplegia type 19	Autosomal dominant spastic paraplegia type 19	Orphanet	100999	http://www.orpha.net/ORDO/Orphanet_100999
Autosomal recessive spastic paraplegia type 20	Autosomal recessive spastic paraplegia type 20	Orphanet	101000	http://www.orpha.net/ORDO/Orphanet_101000
X-linked spastic paraplegia type 16	X-linked spastic paraplegia type 16	Orphanet	100997	http://www.orpha.net/ORDO/Orphanet_100997
Autosomal dominant spastic paraplegia type 17	Autosomal dominant spastic paraplegia type 17	Orphanet	100998	http://www.orpha.net/ORDO/Orphanet_100998
Autosomal recessive spastic paraplegia type 14	Autosomal recessive spastic paraplegia type 14	Orphanet	100995	http://www.orpha.net/ORDO/Orphanet_100995
Autosomal recessive spastic paraplegia type 15	Autosomal recessive spastic paraplegia type 15	Orphanet	100996	http://www.orpha.net/ORDO/Orphanet_100996
Autosomal dominant spastic paraplegia type 12	Autosomal dominant spastic paraplegia type 12	Orphanet	100993	http://www.orpha.net/ORDO/Orphanet_100993
Autosomal dominant spastic paraplegia type 13	Autosomal dominant spastic paraplegia type 13	Orphanet	100994	http://www.orpha.net/ORDO/Orphanet_100994
Autosomal recessive spastic paraplegia type 27	Autosomal recessive spastic paraplegia type 27	Orphanet	101007	http://www.orpha.net/ORDO/Orphanet_101007
Autosomal recessive spastic paraplegia type 28	Autosomal recessive spastic paraplegia type 28	Orphanet	101008	http://www.orpha.net/ORDO/Orphanet_101008
Autosomal recessive spastic paraplegia type 25	Autosomal recessive spastic paraplegia type 25	Orphanet	101005	http://www.orpha.net/ORDO/Orphanet_101005
Autosomal recessive spastic paraplegia type 26	Autosomal recessive spastic paraplegia type 26	Orphanet	101006	http://www.orpha.net/ORDO/Orphanet_101006
Autosomal recessive spastic paraplegia type 23	Autosomal recessive spastic paraplegia type 23	Orphanet	101003	http://www.orpha.net/ORDO/Orphanet_101003
Autosomal recessive spastic paraplegia type 24	Autosomal recessive spastic paraplegia type 24	Orphanet	101004	http://www.orpha.net/ORDO/Orphanet_101004
Autosomal recessive spastic paraplegia type 21	Autosomal recessive spastic paraplegia type 21	Orphanet	101001	http://www.orpha.net/ORDO/Orphanet_101001
Thyroid carcinoma	Thyroid carcinoma	Orphanet	100088	http://www.orpha.net/ORDO/Orphanet_100088
Adrenal/paraganglial tumor	Adrenal/paraganglial tumor	Orphanet	100091	http://www.orpha.net/ORDO/Orphanet_100091
Rare parathyroid tumor	Rare parathyroid tumor	Orphanet	100090	http://www.orpha.net/ORDO/Orphanet_100090
Primary hepatic neuroendocrine carcinoma	Primary hepatic neuroendocrine carcinoma	Orphanet	100085	http://www.orpha.net/ORDO/Orphanet_100085
Middle ear neuroendocrine tumor	Middle ear neuroendocrine tumor	Orphanet	100084	http://www.orpha.net/ORDO/Orphanet_100084
Thyroid tumor	Thyroid tumor	Orphanet	100087	http://www.orpha.net/ORDO/Orphanet_100087
Gallbladder neuroendocrine tumor	Gallbladder neuroendocrine tumor	Orphanet	100086	http://www.orpha.net/ORDO/Orphanet_100086
Neuroendocrine tumor with other location	Neuroendocrine tumor with other location	Orphanet	100101	http://www.orpha.net/ORDO/Orphanet_100101
Thymic tumor	Thymic tumor	Orphanet	100100	http://www.orpha.net/ORDO/Orphanet_100100
Carcinoid syndrome	Carcinoid syndrome	Orphanet	100093	http://www.orpha.net/ORDO/Orphanet_100093
Gastroenteropancreatic neuroendocrine neoplasm	Gastroenteropancreatic neuroendocrine neoplasm	Orphanet	100092	http://www.orpha.net/ORDO/Orphanet_100092
Multiple polyglandular tumor	Multiple polyglandular tumor	Orphanet	100094	http://www.orpha.net/ORDO/Orphanet_100094
Porphyria due to ALA dehydratase deficiency	Porphyria due to ALA dehydratase deficiency	Orphanet	100924	http://www.orpha.net/ORDO/Orphanet_100924
NON RARE IN EUROPE: Gonorrhea	NON RARE IN EUROPE: Gonorrhea	Orphanet	100642	http://www.orpha.net/ORDO/Orphanet_100642
FRAXE intellectual disability	FRAXE intellectual disability	Orphanet	100973	http://www.orpha.net/ORDO/Orphanet_100973
FRAXF syndrome	FRAXF syndrome	Orphanet	100974	http://www.orpha.net/ORDO/Orphanet_100974
Bathing suit ichthyosis	Bathing suit ichthyosis	Orphanet	100976	http://www.orpha.net/ORDO/Orphanet_100976
F12-related hereditary angioedema with normal C1Inh	F12-related hereditary angioedema with normal C1Inh	Orphanet	100054	http://www.orpha.net/ORDO/Orphanet_100054
Hereditary angioedema type 2	Hereditary angioedema type 2	Orphanet	100051	http://www.orpha.net/ORDO/Orphanet_100051
Renin-angiotensin-aldosterone system-blocker-induced angioedema	Renin-angiotensin-aldosterone system-blocker-induced angioedema	Orphanet	100057	http://www.orpha.net/ORDO/Orphanet_100057
Acquired angioedema type 1	Acquired angioedema type 1	Orphanet	100056	http://www.orpha.net/ORDO/Orphanet_100056
Acquired angioedema type 2	Acquired angioedema type 2	Orphanet	100055	http://www.orpha.net/ORDO/Orphanet_100055
Semantic dementia	Semantic dementia	Orphanet	100069	http://www.orpha.net/ORDO/Orphanet_100069
Progressive non-fluent aphasia	Progressive non-fluent aphasia	Orphanet	100070	http://www.orpha.net/ORDO/Orphanet_100070
Waterhouse-Friderichsen syndrome	Waterhouse-Friderichsen syndrome	Orphanet	100067	http://www.orpha.net/ORDO/Orphanet_100067
Neurogenic thoracic outlet syndrome	Neurogenic thoracic outlet syndrome	Orphanet	100073	http://www.orpha.net/ORDO/Orphanet_100073
Neuroendocrine tumor of stomach	Neuroendocrine tumor of stomach	Orphanet	100075	http://www.orpha.net/ORDO/Orphanet_100075
Mosaic trisomy 3	Mosaic trisomy 3	Orphanet	100071	http://www.orpha.net/ORDO/Orphanet_100071
Ileal neuroendocrine tumor	Ileal neuroendocrine tumor	Orphanet	100078	http://www.orpha.net/ORDO/Orphanet_100078
Neuroendocrine neoplasm of appendix	Neuroendocrine neoplasm of appendix	Orphanet	100079	http://www.orpha.net/ORDO/Orphanet_100079
Duodenal neuroendocrine tumor	Duodenal neuroendocrine tumor	Orphanet	100076	http://www.orpha.net/ORDO/Orphanet_100076
Jejunal neuroendocrine tumor	Jejunal neuroendocrine tumor	Orphanet	100077	http://www.orpha.net/ORDO/Orphanet_100077
Neuroendocrine tumor of anal canal	Neuroendocrine tumor of anal canal	Orphanet	100082	http://www.orpha.net/ORDO/Orphanet_100082
Laryngeal neuroendocrine tumor	Laryngeal neuroendocrine tumor	Orphanet	100083	http://www.orpha.net/ORDO/Orphanet_100083
Neuroendocrine tumor of the colon	Neuroendocrine tumor of the colon	Orphanet	100080	http://www.orpha.net/ORDO/Orphanet_100080
Neuroendocrine tumor of the rectum	Neuroendocrine tumor of the rectum	Orphanet	100081	http://www.orpha.net/ORDO/Orphanet_100081
Refractory anemia with excess blasts type 2	Refractory anemia with excess blasts type 2	Orphanet	100020	http://www.orpha.net/ORDO/Orphanet_100020
Refractory anemia with excess blasts type 1	Refractory anemia with excess blasts type 1	Orphanet	100019	http://www.orpha.net/ORDO/Orphanet_100019
Extramedullary soft tissue plasmacytoma	Extramedullary soft tissue plasmacytoma	Orphanet	100022	http://www.orpha.net/ORDO/Orphanet_100022
Primary plasmacytoma of the bone	Primary plasmacytoma of the bone	Orphanet	100021	http://www.orpha.net/ORDO/Orphanet_100021
Mu-heavy chain disease	Mu-heavy chain disease	Orphanet	100024	http://www.orpha.net/ORDO/Orphanet_100024
Gamma-heavy chain disease	Gamma-heavy chain disease	Orphanet	100026	http://www.orpha.net/ORDO/Orphanet_100026
Alpha-heavy chain disease	Alpha-heavy chain disease	Orphanet	100025	http://www.orpha.net/ORDO/Orphanet_100025
Hypocalcified amelogenesis imperfecta	Hypocalcified amelogenesis imperfecta	Orphanet	100032	http://www.orpha.net/ORDO/Orphanet_100032
Hypoplastic amelogenesis imperfecta	Hypoplastic amelogenesis imperfecta	Orphanet	100031	http://www.orpha.net/ORDO/Orphanet_100031
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	Orphanet	100034	http://www.orpha.net/ORDO/Orphanet_100034
Hypomaturation amelogenesis imperfecta	Hypomaturation amelogenesis imperfecta	Orphanet	100033	http://www.orpha.net/ORDO/Orphanet_100033
Solitary necrotic nodule of the liver	Solitary necrotic nodule of the liver	Orphanet	100035	http://www.orpha.net/ORDO/Orphanet_100035
Familial pseudohyperkalemia type 1	Familial pseudohyperkalemia type 1	Orphanet	100039	http://www.orpha.net/ORDO/Orphanet_100039
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A	Autosomal dominant intermediate Charcot-Marie-Tooth disease type A	Orphanet	100043	http://www.orpha.net/ORDO/Orphanet_100043
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B	Autosomal dominant intermediate Charcot-Marie-Tooth disease type B	Orphanet	100044	http://www.orpha.net/ORDO/Orphanet_100044
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C	Orphanet	100045	http://www.orpha.net/ORDO/Orphanet_100045
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D	Autosomal dominant intermediate Charcot-Marie-Tooth disease type D	Orphanet	100046	http://www.orpha.net/ORDO/Orphanet_100046
Esophageal duplication cyst	Esophageal duplication cyst	Orphanet	100047	http://www.orpha.net/ORDO/Orphanet_100047
Tubular duplication of the esophagus	Tubular duplication of the esophagus	Orphanet	100048	http://www.orpha.net/ORDO/Orphanet_100048
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies	Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies	Orphanet	100049	http://www.orpha.net/ORDO/Orphanet_100049
Hereditary angioedema type 1	Hereditary angioedema type 1	Orphanet	100050	http://www.orpha.net/ORDO/Orphanet_100050
Lissencephaly with cerebellar hypoplasia type F	Lissencephaly with cerebellar hypoplasia type F	Orphanet	100016	http://www.orpha.net/ORDO/Orphanet_100016
Lissencephaly with cerebellar hypoplasia type E	Lissencephaly with cerebellar hypoplasia type E	Orphanet	100015	http://www.orpha.net/ORDO/Orphanet_100015
Lissencephaly with cerebellar hypoplasia type B	Lissencephaly with cerebellar hypoplasia type B	Orphanet	100012	http://www.orpha.net/ORDO/Orphanet_100012
Lissencephaly with cerebellar hypoplasia type A	Lissencephaly with cerebellar hypoplasia type A	Orphanet	100011	http://www.orpha.net/ORDO/Orphanet_100011
Lissencephaly with cerebellar hypoplasia type D	Lissencephaly with cerebellar hypoplasia type D	Orphanet	100014	http://www.orpha.net/ORDO/Orphanet_100014
Lissencephaly with cerebellar hypoplasia type C	Lissencephaly with cerebellar hypoplasia type C	Orphanet	100013	http://www.orpha.net/ORDO/Orphanet_100013
ACys amyloidosis	ACys amyloidosis	Orphanet	100008	http://www.orpha.net/ORDO/Orphanet_100008
Intraneural perineurioma	Intraneural perineurioma	Orphanet	100003	http://www.orpha.net/ORDO/Orphanet_100003
ABeta amyloidosis, Dutch type	ABeta amyloidosis, Dutch type	Orphanet	100006	http://www.orpha.net/ORDO/Orphanet_100006
Reticular perineurioma	Reticular perineurioma	Orphanet	100000	http://www.orpha.net/ORDO/Orphanet_100000
Sclerosing perineurioma	Sclerosing perineurioma	Orphanet	100001	http://www.orpha.net/ORDO/Orphanet_100001
Extraneural perineurioma	Extraneural perineurioma	Orphanet	100002	http://www.orpha.net/ORDO/Orphanet_100002
Complex regional pain syndrome type 1	Complex regional pain syndrome type 1	Orphanet	99995	http://www.orpha.net/ORDO/Orphanet_99995
Relapsing epidemic typhus	Relapsing epidemic typhus	Orphanet	99991	http://www.orpha.net/ORDO/Orphanet_99991
Complex regional pain syndrome type 2	Complex regional pain syndrome type 2	Orphanet	99994	http://www.orpha.net/ORDO/Orphanet_99994
Intermediate DEND syndrome	Intermediate DEND syndrome	Orphanet	99989	http://www.orpha.net/ORDO/Orphanet_99989
Brill-Zinsser disease	Brill-Zinsser disease	Orphanet	99990	http://www.orpha.net/ORDO/Orphanet_99990
Cutaneous myiasis	Cutaneous myiasis	Orphanet	99983	http://www.orpha.net/ORDO/Orphanet_99983
Apnea of prematurity	Apnea of prematurity	Orphanet	99981	http://www.orpha.net/ORDO/Orphanet_99981
Klatskin tumor	Klatskin tumor	Orphanet	99978	http://www.orpha.net/ORDO/Orphanet_99978
Squamous cell carcinoma of the esophagus	Squamous cell carcinoma of the esophagus	Orphanet	99977	http://www.orpha.net/ORDO/Orphanet_99977
Adenocarcinoma of the esophagus	Adenocarcinoma of the esophagus	Orphanet	99976	http://www.orpha.net/ORDO/Orphanet_99976
Well-differentiated liposarcoma	Well-differentiated liposarcoma	Orphanet	99971	http://www.orpha.net/ORDO/Orphanet_99971
Pleomorphic liposarcoma	Pleomorphic liposarcoma	Orphanet	99969	http://www.orpha.net/ORDO/Orphanet_99969
Dedifferentiated liposarcoma	Dedifferentiated liposarcoma	Orphanet	99970	http://www.orpha.net/ORDO/Orphanet_99970
Myxoid/round cell liposarcoma	Myxoid/round cell liposarcoma	Orphanet	99967	http://www.orpha.net/ORDO/Orphanet_99967
O'Sullivan-McLeod syndrome	O'Sullivan-McLeod syndrome	Orphanet	99965	http://www.orpha.net/ORDO/Orphanet_99965
Atypical teratoid rhabdoid tumor	Atypical teratoid rhabdoid tumor	Orphanet	99966	http://www.orpha.net/ORDO/Orphanet_99966
Benign recurrent intrahepatic cholestasis type 2	Benign recurrent intrahepatic cholestasis type 2	Orphanet	99961	http://www.orpha.net/ORDO/Orphanet_99961
Benign recurrent intrahepatic cholestasis type 1	Benign recurrent intrahepatic cholestasis type 1	Orphanet	99960	http://www.orpha.net/ORDO/Orphanet_99960
Charcot-Marie-Tooth disease type 4B1	Charcot-Marie-Tooth disease type 4B1	Orphanet	99955	http://www.orpha.net/ORDO/Orphanet_99955
Charcot-Marie-Tooth disease type 4B2	Charcot-Marie-Tooth disease type 4B2	Orphanet	99956	http://www.orpha.net/ORDO/Orphanet_99956
Charcot-Marie-Tooth disease type 4A	Charcot-Marie-Tooth disease type 4A	Orphanet	99948	http://www.orpha.net/ORDO/Orphanet_99948
Autosomal dominant Charcot-Marie-Tooth disease type 2A2	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	Orphanet	99947	http://www.orpha.net/ORDO/Orphanet_99947
Charcot-Marie-Tooth disease type 4D	Charcot-Marie-Tooth disease type 4D	Orphanet	99950	http://www.orpha.net/ORDO/Orphanet_99950
Charcot-Marie-Tooth disease type 4C	Charcot-Marie-Tooth disease type 4C	Orphanet	99949	http://www.orpha.net/ORDO/Orphanet_99949
Charcot-Marie-Tooth disease type 4F	Charcot-Marie-Tooth disease type 4F	Orphanet	99952	http://www.orpha.net/ORDO/Orphanet_99952
Charcot-Marie-Tooth disease type 4E	Charcot-Marie-Tooth disease type 4E	Orphanet	99951	http://www.orpha.net/ORDO/Orphanet_99951
Charcot-Marie-Tooth disease type 4H	Charcot-Marie-Tooth disease type 4H	Orphanet	99954	http://www.orpha.net/ORDO/Orphanet_99954
Charcot-Marie-Tooth disease type 4G	Charcot-Marie-Tooth disease type 4G	Orphanet	99953	http://www.orpha.net/ORDO/Orphanet_99953
Autosomal dominant Charcot-Marie-Tooth disease type 2F	Autosomal dominant Charcot-Marie-Tooth disease type 2F	Orphanet	99940	http://www.orpha.net/ORDO/Orphanet_99940
Autosomal dominant Charcot-Marie-Tooth disease type 2E	Autosomal dominant Charcot-Marie-Tooth disease type 2E	Orphanet	99939	http://www.orpha.net/ORDO/Orphanet_99939
Autosomal dominant Charcot-Marie-Tooth disease type 2I	Autosomal dominant Charcot-Marie-Tooth disease type 2I	Orphanet	99942	http://www.orpha.net/ORDO/Orphanet_99942
Autosomal dominant Charcot-Marie-Tooth disease type 2G	Autosomal dominant Charcot-Marie-Tooth disease type 2G	Orphanet	99941	http://www.orpha.net/ORDO/Orphanet_99941
Autosomal dominant Charcot-Marie-Tooth disease type 2K	Autosomal dominant Charcot-Marie-Tooth disease type 2K	Orphanet	99944	http://www.orpha.net/ORDO/Orphanet_99944
Autosomal dominant Charcot-Marie-Tooth disease type 2J	Autosomal dominant Charcot-Marie-Tooth disease type 2J	Orphanet	99943	http://www.orpha.net/ORDO/Orphanet_99943
Autosomal dominant Charcot-Marie-Tooth disease type 2A1	Autosomal dominant Charcot-Marie-Tooth disease type 2A1	Orphanet	99946	http://www.orpha.net/ORDO/Orphanet_99946
Autosomal dominant Charcot-Marie-Tooth disease type 2L	Autosomal dominant Charcot-Marie-Tooth disease type 2L	Orphanet	99945	http://www.orpha.net/ORDO/Orphanet_99945
Idiopathic pulmonary hemosiderosis	Idiopathic pulmonary hemosiderosis	Orphanet	99931	http://www.orpha.net/ORDO/Orphanet_99931
Heiner syndrome	Heiner syndrome	Orphanet	99932	http://www.orpha.net/ORDO/Orphanet_99932
Pleuropulmonary blastoma type 1	Pleuropulmonary blastoma type 1	Orphanet	99933	http://www.orpha.net/ORDO/Orphanet_99933
Pleuropulmonary blastoma type 2	Pleuropulmonary blastoma type 2	Orphanet	99934	http://www.orpha.net/ORDO/Orphanet_99934
Pleuropulmonary blastoma type 3	Pleuropulmonary blastoma type 3	Orphanet	99935	http://www.orpha.net/ORDO/Orphanet_99935
Autosomal dominant Charcot-Marie-Tooth disease type 2B	Autosomal dominant Charcot-Marie-Tooth disease type 2B	Orphanet	99936	http://www.orpha.net/ORDO/Orphanet_99936
Autosomal dominant Charcot-Marie-Tooth disease type 2C	Autosomal dominant Charcot-Marie-Tooth disease type 2C	Orphanet	99937	http://www.orpha.net/ORDO/Orphanet_99937
Autosomal dominant Charcot-Marie-Tooth disease type 2D	Autosomal dominant Charcot-Marie-Tooth disease type 2D	Orphanet	99938	http://www.orpha.net/ORDO/Orphanet_99938
Invasive mole	Invasive mole	Orphanet	99925	http://www.orpha.net/ORDO/Orphanet_99925
Gestational choriocarcinoma	Gestational choriocarcinoma	Orphanet	99926	http://www.orpha.net/ORDO/Orphanet_99926
Hydatidiform mole	Hydatidiform mole	Orphanet	99927	http://www.orpha.net/ORDO/Orphanet_99927
Placental site trophoblastic tumor	Placental site trophoblastic tumor	Orphanet	99928	http://www.orpha.net/ORDO/Orphanet_99928
Secondary pulmonary hemosiderosis	Secondary pulmonary hemosiderosis	Orphanet	99930	http://www.orpha.net/ORDO/Orphanet_99930
Streptococcal toxic-shock syndrome	Streptococcal toxic-shock syndrome	Orphanet	99918	http://www.orpha.net/ORDO/Orphanet_99918
Theca steroid-producing cell malignant tumor of ovary, not further specified	Theca steroid-producing cell malignant tumor of ovary, not further specified	Orphanet	99917	http://www.orpha.net/ORDO/Orphanet_99917
Malignant Sertoli-Leydig cell tumor of the ovary	Malignant Sertoli-Leydig cell tumor of the ovary	Orphanet	99916	http://www.orpha.net/ORDO/Orphanet_99916
Maligant granulosa cell tumor of the ovary	Maligant granulosa cell tumor of the ovary	Orphanet	99915	http://www.orpha.net/ORDO/Orphanet_99915
Ocular cicatricial pemphigoid	Ocular cicatricial pemphigoid	Orphanet	99922	http://www.orpha.net/ORDO/Orphanet_99922
Chronic graft versus host disease	Chronic graft versus host disease	Orphanet	99921	http://www.orpha.net/ORDO/Orphanet_99921
Acute graft versus host disease	Acute graft versus host disease	Orphanet	99920	http://www.orpha.net/ORDO/Orphanet_99920
Staphylococcal toxic-shock syndrome	Staphylococcal toxic-shock syndrome	Orphanet	99919	http://www.orpha.net/ORDO/Orphanet_99919
Occupational allergic alveolitis	Occupational allergic alveolitis	Orphanet	99909	http://www.orpha.net/ORDO/Orphanet_99909
Pigeon-breeder lung disease	Pigeon-breeder lung disease	Orphanet	99908	http://www.orpha.net/ORDO/Orphanet_99908
House allergic alveolitis	House allergic alveolitis	Orphanet	99907	http://www.orpha.net/ORDO/Orphanet_99907
Gynandroblastoma	Gynandroblastoma	Orphanet	99914	http://www.orpha.net/ORDO/Orphanet_99914
Extragonadal non-dysgerminomatous germ cell tumor	Extragonadal non-dysgerminomatous germ cell tumor	Orphanet	99913	http://www.orpha.net/ORDO/Orphanet_99913
Malignant dysgerminomatous germ cell tumor of the ovary	Malignant dysgerminomatous germ cell tumor of the ovary	Orphanet	99912	http://www.orpha.net/ORDO/Orphanet_99912
Acyl-CoA dehydrogenase 9 deficiency	Acyl-CoA dehydrogenase 9 deficiency	Orphanet	99901	http://www.orpha.net/ORDO/Orphanet_99901
Long chain acyl-CoA dehydrogenase deficiency	Long chain acyl-CoA dehydrogenase deficiency	Orphanet	99900	http://www.orpha.net/ORDO/Orphanet_99900
Streptobacillary rat-bite fever	Streptobacillary rat-bite fever	Orphanet	99905	http://www.orpha.net/ORDO/Orphanet_99905
Farmer's lung disease	Farmer's lung disease	Orphanet	99906	http://www.orpha.net/ORDO/Orphanet_99906
Spirillary rat-bite fever	Spirillary rat-bite fever	Orphanet	99903	http://www.orpha.net/ORDO/Orphanet_99903
ACTH-independent Cushing syndrome	ACTH-independent Cushing syndrome	Orphanet	99893	http://www.orpha.net/ORDO/Orphanet_99893
ACTH-dependent Cushing syndrome	ACTH-dependent Cushing syndrome	Orphanet	99892	http://www.orpha.net/ORDO/Orphanet_99892
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency	Orphanet	99898	http://www.orpha.net/ORDO/Orphanet_99898
Familial isolated hyperparathyroidism	Familial isolated hyperparathyroidism	Orphanet	99879	http://www.orpha.net/ORDO/Orphanet_99879
Hyperparathyroidism-jaw tumor syndrome	Hyperparathyroidism-jaw tumor syndrome	Orphanet	99880	http://www.orpha.net/ORDO/Orphanet_99880
Familial parathyroid adenoma	Familial parathyroid adenoma	Orphanet	99877	http://www.orpha.net/ORDO/Orphanet_99877
Primary parathyroid hyperplasia	Primary parathyroid hyperplasia	Orphanet	99878	http://www.orpha.net/ORDO/Orphanet_99878
Acute megakaryoblastic leukemia in Down syndrome	Acute megakaryoblastic leukemia in Down syndrome	Orphanet	99887	http://www.orpha.net/ORDO/Orphanet_99887
NON RARE IN EUROPE: Adrenocortical adenoma	NON RARE IN EUROPE: Adrenocortical adenoma	Orphanet	99888	http://www.orpha.net/ORDO/Orphanet_99888
Cushing syndrome due to ectopic ACTH secretion	Cushing syndrome due to ectopic ACTH secretion	Orphanet	99889	http://www.orpha.net/ORDO/Orphanet_99889
Permanent neonatal diabetes mellitus	Permanent neonatal diabetes mellitus	Orphanet	99885	http://www.orpha.net/ORDO/Orphanet_99885
Transient neonatal diabetes mellitus	Transient neonatal diabetes mellitus	Orphanet	99886	http://www.orpha.net/ORDO/Orphanet_99886
Spermatocytic seminoma	Spermatocytic seminoma	Orphanet	99865	http://www.orpha.net/ORDO/Orphanet_99865
Precursor B-cell acute lymphoblastic leukemia	Precursor B-cell acute lymphoblastic leukemia	Orphanet	99860	http://www.orpha.net/ORDO/Orphanet_99860
Precursor T-cell acute lymphoblastic leukemia	Precursor T-cell acute lymphoblastic leukemia	Orphanet	99861	http://www.orpha.net/ORDO/Orphanet_99861
Thymic carcinoma	Thymic carcinoma	Orphanet	99868	http://www.orpha.net/ORDO/Orphanet_99868
Thymoma	Thymoma	Orphanet	99867	http://www.orpha.net/ORDO/Orphanet_99867
Thymic neuroendocrine carcinoma	Thymic neuroendocrine carcinoma	Orphanet	99869	http://www.orpha.net/ORDO/Orphanet_99869
Glycogen storage disease due to muscle beta-enolase deficiency	Glycogen storage disease due to muscle beta-enolase deficiency	Orphanet	99849	http://www.orpha.net/ORDO/Orphanet_99849
Genetic recurrent myoglobinuria	Genetic recurrent myoglobinuria	Orphanet	99845	http://www.orpha.net/ORDO/Orphanet_99845
Autosomal dominant myoglobinuria	Autosomal dominant myoglobinuria	Orphanet	99846	http://www.orpha.net/ORDO/Orphanet_99846
Leukocyte adhesion deficiency type II	Leukocyte adhesion deficiency type II	Orphanet	99843	http://www.orpha.net/ORDO/Orphanet_99843
Leukocyte adhesion deficiency type III	Leukocyte adhesion deficiency type III	Orphanet	99844	http://www.orpha.net/ORDO/Orphanet_99844
Secondary syringomyelia	Secondary syringomyelia	Orphanet	99857	http://www.orpha.net/ORDO/Orphanet_99857
Idiopathic syringomyelia	Idiopathic syringomyelia	Orphanet	99858	http://www.orpha.net/ORDO/Orphanet_99858
Primary syringomyelia	Primary syringomyelia	Orphanet	99856	http://www.orpha.net/ORDO/Orphanet_99856
Ovarioleukodystrophy	Ovarioleukodystrophy	Orphanet	99853	http://www.orpha.net/ORDO/Orphanet_99853
Cree leukoencephalopathy	Cree leukoencephalopathy	Orphanet	99854	http://www.orpha.net/ORDO/Orphanet_99854
Ravine syndrome	Ravine syndrome	Orphanet	99852	http://www.orpha.net/ORDO/Orphanet_99852
Resistance to thyrotropin-releasing hormone syndrome	Resistance to thyrotropin-releasing hormone syndrome	Orphanet	99832	http://www.orpha.net/ORDO/Orphanet_99832
Yellow fever	Yellow fever	Orphanet	99829	http://www.orpha.net/ORDO/Orphanet_99829
Dengue fever	Dengue fever	Orphanet	99828	http://www.orpha.net/ORDO/Orphanet_99828
Crimean-Congo hemorrhagic fever	Crimean-Congo hemorrhagic fever	Orphanet	99827	http://www.orpha.net/ORDO/Orphanet_99827
Leukocyte adhesion deficiency type I	Leukocyte adhesion deficiency type I	Orphanet	99842	http://www.orpha.net/ORDO/Orphanet_99842
Neuronal intestinal pseudoobstruction	Neuronal intestinal pseudoobstruction	Orphanet	99811	http://www.orpha.net/ORDO/Orphanet_99811
LIG4 syndrome	LIG4 syndrome	Orphanet	99812	http://www.orpha.net/ORDO/Orphanet_99812
Non-polyposis Turcot syndrome	Non-polyposis Turcot syndrome	Orphanet	99817	http://www.orpha.net/ORDO/Orphanet_99817
Turcot syndrome with polyposis	Turcot syndrome with polyposis	Orphanet	99818	http://www.orpha.net/ORDO/Orphanet_99818
Familial gestational hyperthyroidism	Familial gestational hyperthyroidism	Orphanet	99819	http://www.orpha.net/ORDO/Orphanet_99819
Lassa fever	Lassa fever	Orphanet	99824	http://www.orpha.net/ORDO/Orphanet_99824
Nipah virus disease	Nipah virus disease	Orphanet	99825	http://www.orpha.net/ORDO/Orphanet_99825
Marburg hemorrhagic fever	Marburg hemorrhagic fever	Orphanet	99826	http://www.orpha.net/ORDO/Orphanet_99826
Subcortical band heterotopia	Subcortical band heterotopia	Orphanet	99796	http://www.orpha.net/ORDO/Orphanet_99796
Oligodontia	Oligodontia	Orphanet	99798	http://www.orpha.net/ORDO/Orphanet_99798
Anodontia	Anodontia	Orphanet	99797	http://www.orpha.net/ORDO/Orphanet_99797
Hemimegalencephaly	Hemimegalencephaly	Orphanet	99802	http://www.orpha.net/ORDO/Orphanet_99802
Haddad syndrome	Haddad syndrome	Orphanet	99803	http://www.orpha.net/ORDO/Orphanet_99803
Oculootodental syndrome	Oculootodental syndrome	Orphanet	99806	http://www.orpha.net/ORDO/Orphanet_99806
PEHO-like syndrome	PEHO-like syndrome	Orphanet	99807	http://www.orpha.net/ORDO/Orphanet_99807
Familial porencephaly	Familial porencephaly	Orphanet	99810	http://www.orpha.net/ORDO/Orphanet_99810
Dentin dysplasia type I	Dentin dysplasia type I	Orphanet	99789	http://www.orpha.net/ORDO/Orphanet_99789
Dentin dysplasia type II	Dentin dysplasia type II	Orphanet	99791	http://www.orpha.net/ORDO/Orphanet_99791
Dentin dysplasia-sclerotic bones syndrome	Dentin dysplasia-sclerotic bones syndrome	Orphanet	99792	http://www.orpha.net/ORDO/Orphanet_99792
Cleft velum	Cleft velum	Orphanet	99772	http://www.orpha.net/ORDO/Orphanet_99772
Bifid uvula	Bifid uvula	Orphanet	99771	http://www.orpha.net/ORDO/Orphanet_99771
Achalasia-alacrimia syndrome	Achalasia-alacrimia syndrome	Orphanet	99777	http://www.orpha.net/ORDO/Orphanet_99777
Mosaic trisomy 9	Mosaic trisomy 9	Orphanet	99776	http://www.orpha.net/ORDO/Orphanet_99776