Diseases

Name Orphanumber Description XREF(s)
Amelocerebrohypohidrotic syndrome 1946 A genetically heterogeneous autosomal… Orphanet, ICD-10, OMIM
Amish infantile epilepsy syndrome 171714 Orphanet, ICD-10, OMIM
Amish lethal microcephaly 99742 A very rare syndrome characterized by… Orphanet, MeSH, ICD-10, OMIM
Amish nemaline myopathy 98902 A type of nemaline myopathy (NM) only… Orphanet, OMIM, ICD-10
AA amyloidosis 85445 A rare amyloidosis that complicates… Orphanet, ICD-10, MedDRA
Amyloidosis cutis dyschromia 319635 A rare primary cutaneous amyloidosis… Orphanet, OMIM, ICD-10, ICD-10
Amyotrophic lateral sclerosis 803 A neurodegenerative disease… Orphanet, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, MedDRA, MeSH, ICD-10, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM
Amyotrophic lateral sclerosis type 4 357043 A rare, genetic motor neuron disease… Orphanet, OMIM, ICD-10
Analysis of the toxicity of enzalutamide 529828 Orphanet
Anaplastic astrocytoma 251589 A rare, high-grade, malignant glial… Orphanet, MedDRA, MedDRA, ICD-10
Anaplastic oligoastrocytoma 251663 A rare and aggressive glial tumor of… Orphanet, ICD-10
Anaplastic oligodendroglioma 251630 A rare glial tumor characterized by a… Orphanet, MedDRA, ICD-10, OMIM, OMIM
Anauxetic dysplasia 93347 A rare spondyloepimetaphyseal dysplasia… Orphanet, OMIM, OMIM, MeSH, ICD-10, OMIM
Andersen-Tawil syndrome 37553 https://www.orpha.net/consor/cgi-bin/Di…
Andersen-Tawil syndrome 37553 A rare disorder characterized by… Orphanet, ICD-10, OMIM
ANE syndrome 157954 A rare, genetic, neuro-endocrino-… Orphanet, OMIM, ICD-10
Aneurysm-osteoarthritis syndrome 284984 A rare, genetic, systemic disease… Orphanet, ICD-10, OMIM
Angelman syndrome 72 Orphanet
Angelman syndrome due to imprinting defect in 15q11-q13 411515 Orphanet
Angelman syndrome due to maternal 15q11q13 deletion 98794 Orphanet, ICD-10
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