Diseases

Name Orphanumber Description XREF(s)
ABeta amyloidosis, Iowa type 324708 A form of hereditary cerebral… Orphanet, OMIM, ICD-10, ICD-10
ABeta amyloidosis, Italian type 324713 A form of hereditary cerebral… Orphanet, ICD-10, OMIM, ICD-10
ABetaA21G amyloidosis 324718 A form of hereditary cerebral… Orphanet, OMIM, ICD-10, ICD-10
ABetaL34V amyloidosis 324703 A form of hereditary cerebral… Orphanet, OMIM, ICD-10, ICD-10
Abetalipoproteinemia 14 A severe, familial… Orphanet, MeSH, OMIM, ICD-10, OMIM, OMIM
Ablepharon macrostomia syndrome 920 An extremely rare multiple congenital… Orphanet, MeSH, ICD-10, OMIM
ABri amyloidosis 97345 A rare, neurodegenerative disease… Orphanet, MeSH, ICD-10, OMIM, ICD-10
Abruzzo-Erickson syndrome 921 An orofacial clefting syndrome that is… Orphanet, MeSH, OMIM, ICD-10
Absence of fingerprints-congenital milia syndrome 1658 A rare syndrome characterized by… Orphanet, ICD-10, OMIM
Acatalasemia 926 A rare inborn error of metabolism… Orphanet, OMIM, ICD-10
Aceruloplasminemia 48818 A rare adult-onset disorder of… Orphanet, MeSH, ICD-10, OMIM
Acetazolamide-responsive myotonia 99736 A form of potassium-aggravated myotonia… Orphanet, ICD-10, OMIM
Acheiropodia 931 An extremely rare developmental… Orphanet, OMIM, MeSH, ICD-10
Achondrogenesis type 1A 93299 A rare, lethal type of achondrogenesis… Orphanet, ICD-10, OMIM, MeSH
Achondrogenesis type 1B 93298 A rare, lethal type of achondrogenesis… Orphanet, MeSH, OMIM, ICD-10
Achondrogenesis type 2 93296 A rare, lethal type of achondrogenesis… Orphanet, MeSH, ICD-10, OMIM
Achondroplasia 15 A primary bone dysplasia with… Orphanet, OMIM, MedDRA, MeSH, ICD-10
Achromatopsia 49382 A rare autosomal recessive retinal… Orphanet, MedDRA, ICD-10, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM
Acquired idiopathic sideroblastic anemia 75564 A rare myelodysplastic syndrome (MDS)… Orphanet, ICD-10
Acquired partial lipodystrophy 79087 A rare acquired lipodystrophy… Orphanet, OMIM, ICD-10
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