Diseases

Name Orphanumber Description XREF(s)
Vein of Galen aneurysmal malformation 1053 A congenital vascular malformation… Orphanet, OMIM, MeSH, ICD-10
Blue rubber bleb nevus 1059 A rare vascular malformation disorder… Orphanet, MeSH, OMIM, ICD-10
NON RARE IN EUROPE: Autism 106 Orphanet
Tufted angioma 1063 A rare vascular tumour that may be… Orphanet, OMIM, MeSH, ICD-10
Aniridia-cerebellar ataxia-intellectual disability syndrome 1065 A rare, congenital, neurological… Orphanet, OMIM, ICD-10
BOR syndrome 107 A rare otomandibular dysplasia syndrome… Orphanet, MeSH, OMIM, OMIM, ICD-10, MedDRA
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1071 An ectodermal dysplasia syndrome with… Orphanet, MeSH, ICD-10, OMIM
Ankyloblepharon filiforme adnatum-cleft palate syndrome 1072 A rare, syndromic, developmental defect… Orphanet, OMIM, ICD-10, MeSH
Microlissencephaly 1083 Microlissencephaly describes a… Orphanet, ICD-10, OMIM, OMIM
Bannayan-Riley-Ruvalcaba syndrome 109 A rare developmental defect during… Orphanet, ICD-10, OMIM
Bardet-Biedl syndrome 110 A rare genetic multisystem disorder… Orphanet, MeSH, MedDRA, ICD-10, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM
Microphthalmia with limb anomalies 1106 A rare developmental disorder… Orphanet, OMIM, ICD-10
Barth syndrome 111 Barth syndrome (BTHS) is an inborn… Orphanet, MeSH, ICD-10, OMIM
Aplasia cutis congenita 1114 A rare skin disorder characterized by… Orphanet, OMIM, MeSH, ICD-10, OMIM
Arnold-Chiari malformation type II 1136 A rare, central nervous system… Orphanet, OMIM, MedDRA, ICD-10
Neurogenic arthrogryposis multiplex congenita 1143 A form of arthrogryposis multiplex… Orphanet, MeSH, ICD-10, OMIM
Infantile-onset X-linked spinal muscular atrophy 1145 A rare form of spinal muscular atrophy… Orphanet, MeSH, ICD-10, OMIM
Distal arthrogryposis type 1 1146 A form of arthrogryposis characterized… Orphanet, OMIM, ICD-10, OMIM, OMIM, OMIM, OMIM
Sheldon-Hall syndrome 1147 Sheldon-Hall syndrome (SHS) is a rare… Orphanet, OMIM, OMIM, OMIM, ICD-10
Kuskokwim syndrome 1149 A very rare congenital contracture… Orphanet, OMIM, ICD-10
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