Diseases

Name Orphanumber Description XREF(s)
Alpha-B crystallin-related late-onset myopathy 399058 A rare, genetic, alpha-crystallinopathy… Orphanet, ICD-10, OMIM
Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 280333 A form of limb-girdle muscular… Orphanet, OMIM, ICD-10
Alpha-mannosidosis, adult form 309288 Orphanet, ICD-10, OMIM
Alpha-mannosidosis, infantile form 309282 Orphanet, OMIM, ICD-10
Alpha-N-acetylgalactosaminidase deficiency type 3 79281 A rare clinically heterogeneous type of… Orphanet, ICD-10, OMIM
Alpha-N-acetylgalactosaminidase deficiency type 2 79280 A very rare mild adult type of NAGA… Orphanet, ICD-10, OMIM
Alpha-N-acetylgalactosaminidase deficiency type 1 79279 A very rare and severe type of NAGA… Orphanet, OMIM, ICD-10
Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 62 A subtype of autosomal recessive limb-… Orphanet, ICD-10, OMIM
Alpha-thalassemia 846 An inherited hemoglobinopathy… Orphanet
Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 98791 A rare developmental defect during… Orphanet, ICD-10, OMIM
Alpha-thalassemia-myelodysplastic syndrome 231401 An acquired form of alpha-thalassemia… Orphanet, ICD-10, ICD-10, OMIM
Alpha-thalassemia-X-linked intellectual disability syndrome 847 A rare X-linked syndromic intellectual… Orphanet, ICD-10, OMIM, OMIM
Alport syndrome 63 Alport syndrome (AS) is an inherited…
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 86818 A rare constitutional hemolytic anemia… Orphanet, ICD-10, OMIM, OMIM
Alström syndrome 64 A rare multisystemic disorder… Orphanet, MeSH, MedDRA, ICD-10, OMIM
Alternating hemiplegia of childhood 2131 A rare, genetic, neurodevelopmental… Orphanet, MeSH, ICD-10, OMIM, OMIM
Alveolar rhabdomyosarcoma 99756 Orphanet, ICD-10, OMIM, MeSH, MedDRA
Alveolar soft tissue sarcoma 163699 A rare soft tissue sarcoma… Orphanet, MeSH, MedDRA, OMIM, ICD-10
ALys amyloidosis 93561 A rare, hereditary amyloidosis with… Orphanet, ICD-10
Alzheimer disease (NON RARE IN EUROPE) 238616 ORPHANET
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