Diseases

Name Orphanumber Description XREF(s)
Amish lethal microcephaly 99742 A very rare syndrome characterized by… Orphanet, MeSH, ICD-10, OMIM
Kostmann syndrome 99749 Kostmann syndrome is a rare, severe,… Orphanet, ICD-10, OMIM
Alveolar rhabdomyosarcoma 99756 Orphanet, ICD-10, OMIM, MeSH, MedDRA
Embryonal rhabdomyosarcoma 99757 Orphanet, ICD-10, OMIM, MeSH, MedDRA
Familial hyperreninemic hypoaldosteronism type 1 99763 Orphanet, OMIM, OMIM, ICD-10
Bifid uvula 99771 Bifid uvula is a fissure type… Orphanet, ICD-10
Cleft velum 99772 Cleft velum is a fissure type… Orphanet, ICD-10, OMIM
Dentin dysplasia type I 99789 Dentin dysplasia type I (DD-I) is a… Orphanet, MeSH, ICD-10
Dentin dysplasia type II 99791 Dentin dysplasia type II (DD-II) is a… Orphanet, OMIM, ICD-10
Subcortical band heterotopia 99796 A rare, non-syndromic cerebral… Orphanet, OMIM, OMIM, OMIM, ICD-10
Oligodontia 99798 Oligodontia is a rare developmental… Orphanet, OMIM, OMIM, OMIM, ICD-10, OMIM, OMIM, OMIM, OMIM, OMIM
Hemimegalencephaly 99802 Hemimegalencephaly is a rare cerebral… Orphanet, ICD-10
Haddad syndrome 99803 Haddad syndrome is a rare congenital… Orphanet, ICD-10, MeSH, OMIM
Oculootodental syndrome 99806 A contiguous gene syndrome comprising… Orphanet, ICD-10, OMIM
PEHO-like syndrome 99807 PEHO-like syndrome is a rare, genetic… Orphanet, OMIM, ICD-10, OMIM
Familial porencephaly 99810 Orphanet, MeSH, ICD-10, OMIM, OMIM
Neuronal intestinal pseudoobstruction 99811 Neuronal intestinal pseudoobstruction… Orphanet, ICD-10, MeSH, OMIM
LIG4 syndrome 99812 LIG4 syndrome is a hereditary disorder… Orphanet, OMIM, ICD-10
Turcot syndrome with polyposis 99818 Turcot syndrome with polyposis or… OMIM
Turcot syndrome with polyposis 99818 Turcot syndrome with polyposis or… Orphanet, OMIM, ICD-10
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