Diseases

Name Orphanumber Description XREF(s)
Bilateral multicystic dysplastic kidney 97364 A rare lethal form of multicystic… Orphanet, MeSH, MeSH, ICD-10
Renal tubular dysgenesis of genetic origin 97369 Orphanet, ICD-10, OMIM
Adams-Oliver syndrome 974 A rare disorder characterized by the… Orphanet, ICD-10, MeSH, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM
Right sided atrial isomerism 97548 A rare heterotaxia characterized by… Orphanet, MedDRA, ICD-10, OMIM
NON RARE IN EUROPE: Benign familial hematuria 97562 Orphanet
Adenine phosphoribosyltransferase deficiency 976 A rare genetic nephropathy secondary to… Orphanet, ICD-10, OMIM
17q11 microdeletion syndrome 97685 17q11 microdeletion syndrome is a rare… Orphanet, ICD-10, OMIM
ADULT syndrome 978 A rare ectodermal dysplasia syndrome… Orphanet, MeSH, ICD-10, OMIM
Peripheral resistance to thyroid hormones 97927 Peripheral resistance to thyroid… Orphanet, OMIM, OMIM, ICD-10
Autosomal recessive spastic ataxia of Charlevoix-Saguenay 98 Autosomal recessive spastic ataxia of… Orphanet, ICD-10, OMIM, MeSH
Testicular regression syndrome 983 Testicular regression syndrome (TRS) is… Orphanet, MeSH, MedDRA, ICD-10, OMIM
Hereditary combined deficiency of vitamin K-dependent clotting factors 98434 Combined vitamin K-dependent clotting… Orphanet, OMIM, OMIM, ICD-10
Rare isolated myopia 98619 Rare isolated myopia is a rare, genetic… Orphanet, OMIM, OMIM, OMIM, ICD-10
Autosomal dominant optic atrophy, classic form 98673 A rare neuro-ophthalmological disease… Orphanet, OMIM, ICD-10, OMIM, OMIM, OMIM
Autosomal recessive isolated optic atrophy 98676 A rare hereditary optic atrophy… Orphanet, OMIM, OMIM, ICD-10, OMIM, OMIM
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 98754 Orphanet, OMIM, ICD-10
Spinocerebellar ataxia type 1 98755 Spinocerebellar ataxia type 1 (SCA1) is… Orphanet, ICD-10, OMIM
Spinocerebellar ataxia type 2 98756 Spinocerebellar ataxia type 2 (SCA2) is… Orphanet, ICD-10, OMIM
Spinocerebellar ataxia type 6 98758 An autosomal dominant cerebellar ataxia… Orphanet, ICD-10, OMIM
Spinocerebellar ataxia type 17 98759 Spinocerebellar ataxia type 17 (SCA17)… Orphanet, OMIM, ICD-10
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