Diseases

Name Orphanumber Description XREF(s)
Adenylosuccinate lyase deficiency 46 A disorder of purine metabolism… Orphanet, ICD-10, OMIM, MeSH
Adenylosuccinate synthetase-like 1-related distal myopathy 482601 A rare autosomal recessive distal… Orphanet, OMIM, ICD-10
ADNP syndrome 404448 A rare syndromic intellectual… Orphanet, ICD-10, OMIM
Adrenocortical carcinoma 1501 A rare cancer that arises from the… Orphanet, OMIM, MeSH, ICD-10, MedDRA
Adrenomyeloneuropathy 139399 A form of the peroxisomal disease X-… Orphanet, ICD-10, OMIM
Adult hepatocellular carcinoma 210159 A rare carcinoma of the liver… Orphanet, OMIM, ICD-10
Adult hypophosphatasia 247676 A moderate form of hypophosphatasia (… Orphanet, ICD-10, OMIM
Adult Krabbe disease 206448 Orphanet, ICD-10
Adult polyglucosan body disease 206583 A glycogen storage disease of adults… Orphanet, ICD-10, OMIM
ADULT syndrome 978 A rare ectodermal dysplasia syndrome… Orphanet, MeSH, ICD-10, OMIM
Adult-onset autosomal dominant leukodystrophy 99027 A rare, slowly progressive neurological… Orphanet, ICD-10, OMIM
Adult-onset autosomal recessive sideroblastic anemia 255132 A very rare non-syndromic autosomal… Orphanet, OMIM, ICD-10
Adult-onset autosomal recessive cerebellar ataxia 284289 A rare, genetic, autosomal recessive… Orphanet, ICD-10, OMIM
Adult-onset cervical dystonia, DYT23 type 420492 A rare, genetic, isolated dystonia… Orphanet, ICD-10, OMIM
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy 329336 A rare mitochondrial disease… Orphanet, ICD-10, OMIM
Adult-onset citrullinemia type I 247573 A form of citrullinemia type I… Orphanet
Adult-onset distal myopathy due to VCP mutation 329478 A rare, genetic distal myopathy… Orphanet
Adult-onset dystonia-parkinsonism 199351 A rare neurodegenerative disease… Orphanet, OMIM, ICD-10
Adult-onset foveomacular vitelliform dystrophy 99000 A rare, genetic, macular dystrophy… Orphanet, ICD-10, OMIM, OMIM, OMIM, OMIM
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency 329314 An extremely rare multiple… Orphanet, ICD-10, OMIM
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