Diseases

Name Orphanumber Description XREF(s)
ALG12-CDG 79324 A form of congenital disorders of N-… Orphanet, OMIM, ICD-10
ALG13-CDG 324422 A form of congenital disorders of N-… Orphanet, ICD-10, OMIM
ALG1-CDG 79327 A severe form of congenital disorders… Orphanet, OMIM, ICD-10
ALG2-CDG 79326 A form of congenital disorders of N-… Orphanet, OMIM, ICD-10
ALG3-CDG 79321 A form of congenital disorders of N-… Orphanet, OMIM, ICD-10
ALG6-CDG 79320 A form of congenital disorders of N-… Orphanet, OMIM, ICD-10
ALG8-CDG 79325 A form of congenital disorders of N-… Orphanet, OMIM, ICD-10
ALG9-CDG 79328 A form of congenital disorders of N-… Orphanet, OMIM, ICD-10, OMIM
Alkaline ceramidase 3 deficiency 502444 A rare genetic leukodystrophy… Orphanet, ICD-10, OMIM
Alkaptonuria 56 A rare disorder of phenylalanine and… Orphanet, MedDRA, ICD-10, MeSH, MeSH, OMIM
ALK-positive anaplastic large cell lymphoma 300895 A type of ALCL, a rare and aggressive… Orphanet, ICD-10
ALK-positive large B-cell lymphoma 364043 A very rare variant of diffuse large B-… Orphanet, ICD-10
Allan-Herndon-Dudley syndrome 59 An X-linked intellectual disability… Orphanet, OMIM, MeSH, ICD-10
Allopurinol toxicity 240845 Orphanet
Alobar holoprosencephaly 93925 A severe form of holoprosencephaly… Orphanet, OMIM, OMIM, OMIM, OMIM, ICD-10
Alopecia universalis 701 A disorder of most severe form of… Orphanet, OMIM, OMIM, OMIM, MeSH, MedDRA, ICD-10
Alopecia-intellectual disability syndrome 2850 An extremely rare genetic syndromic… Orphanet, OMIM, OMIM, OMIM, OMIM, ICD-10
Alpers-Huttenlocher syndrome 726 A cerebrohepatopathy and a rare and… Orphanet, ICD-10, OMIM, MeSH, MedDRA
Alpha delta granule deficiency 734 A rare hemorrhagic disorder due to a… Orphanet, OMIM, ICD-10
Alpha-1-antitrypsin deficiency 60 A rare hereditary, metabolic disease… Orphanet, OMIM, ICD-10, MeSH, MedDRA, MeSH
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