Diseases

Name Orphanumber Description XREF(s)
Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis 596008 Orphanet
APC-related attenuated familial adenomatous polyposis 247806 Orphanet, OMIM, ICD-10
Apert syndrome 87 A frequent form of… Orphanet, MedDRA, MeSH, ICD-10, OMIM
Aplasia cutis congenita 1114 A rare skin disorder characterized by… Orphanet, OMIM, MeSH, ICD-10, OMIM
Aplasia of lacrimal and salivary glands 86815 A rare autosomal dominant disorder… Orphanet, ICD-10, ICD-10, OMIM
Apolipoprotein A-I deficiency 425 A rare lipoprotein metabolism disorder… Orphanet, OMIM, ICD-10, MeSH, OMIM, MedDRA
Apparent mineralocorticoid excess 320 A rare form of pseudohyperaldosteronism… Orphanet, ICD-10, MeSH, MeSH, OMIM
Aquagenic palmoplantar keratoderma 498359 A rare skin disease characterized by… Orphanet, ICD-10
Argininemia 90 A rare autosomal recessive amino acid… Orphanet, OMIM, MeSH, MedDRA, ICD-10
Argininosuccinic aciduria 23 A rare, genetic disorder of urea cycle… Orphanet, MeSH, ICD-10, OMIM, MedDRA
Arnold-Chiari malformation type II 1136 A rare, central nervous system… Orphanet, OMIM, MedDRA, ICD-10
Arnold-Chiari malformation type I 268882 A central nervous system malformation… Orphanet, MedDRA, ICD-10, OMIM
Aromatase deficiency 91 A rare disorder that disrupts the… Orphanet, MeSH, ICD-10, OMIM
Aromatase excess syndrome 178345 A rare, genetic endocrine disease… Orphanet, ICD-10, OMIM
Aromatic L-amino acid decarboxylase deficiency 35708 A rare, severe, genetic neurometabolic… Orphanet, OMIM, ICD-10
Arterial tortuosity syndrome 3342 A rare autosomal recessive connective… Orphanet, OMIM, ICD-10
Arthrochalasia Ehlers-Danlos syndrome 1899 A form of Ehlers-Danlos syndrome (EDS)… Orphanet, OMIM, ICD-10, OMIM
Arthrogryposis, renal dysfunction, and cholestasis
Arthrogryposis-anterior horn cell disease syndrome 53696 A rare arthrogryposis syndrome… Orphanet, OMIM, ICD-10
Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome 1154 An inherited developmental defect… Orphanet, ICD-10, OMIM
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