Diseases

Name Orphanumber Description XREF(s)
AFib amyloidosis 93562 A rare, hereditary amyloidosis with… Orphanet, ICD-10
AGel amyloidosis 85448 A rare, systemic amyloidosis… Orphanet, OMIM, ICD-10
Aggressive systemic mastocytosis 98850 A rare, aggressive form of advanced… Orphanet, MedDRA, ICD-10
Agnathia-holoprosencephaly-situs inversus syndrome 990 An extremely rare and fatal association… Orphanet, ICD-10, OMIM
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome 412069 A rare, syndromic intellectual… Orphanet, OMIM, ICD-10
Aicardi-Goutières syndrome 51 An inherited, subacute encephalopathy… Orphanet, MeSH, ICD-10, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM
AICA-ribosiduria 250977 A rare and severe inborn metabolic… Orphanet, ICD-10, OMIM
AKT2-related familial partial lipodystrophy 79085 A rare familial partial lipodystrophy… Orphanet, ICD-10
Alacrimia-choreoathetosis-liver dysfunction syndrome 404454 A rare, genetic, inborn error of… Orphanet, ICD-10, OMIM
Alagille syndrome due to 20p12 microdeletion 261600 Orphanet, ICD-10, OMIM
Alagille syndrome due to a JAG1 point mutation 261619 Orphanet, ICD-10, OMIM
Alagille syndrome due to a NOTCH2 point mutation 261629 Orphanet, OMIM, ICD-10
Åland Islands eye disease 178333 An X-linked recessive retinal disease… Orphanet, OMIM, ICD-10
Alazami syndrome 319671 A rare form of primordial dwarfism,… Orphanet, ICD-10, OMIM
Albers-Schönberg osteopetrosis 53 A sclerosing disorder of the skeleton… Orphanet, ICD-10, OMIM
ALDH18A1-related De Barsy syndrome 35664 A rare, genetic, neurometabolic disease… Orphanet, ICD-10, OMIM
Aleukemic mast cell leukemia 158799 A very rare, aggressive form of… Orphanet
Alexander disease type II 363722 An astrogliopathy and a form of… Orphanet, OMIM, ICD-10
Alexander disease type I 363717 An astrogliopathy and the most severe… Orphanet, OMIM, ICD-10
ALG11-CDG 280071 A form of congenital disorders of N-… Orphanet, ICD-10, OMIM
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