Diseases

Name Orphanumber Description XREF(s)
Hemimegalencephaly 99802 Hemimegalencephaly is a rare cerebral… Orphanet, ICD-10
Oligodontia 99798 Oligodontia is a rare developmental… Orphanet, OMIM, OMIM, OMIM, ICD-10, OMIM, OMIM, OMIM, OMIM, OMIM
Subcortical band heterotopia 99796 A rare, non-syndromic cerebral… Orphanet, OMIM, OMIM, OMIM, ICD-10
Dentin dysplasia type II 99791 Dentin dysplasia type II (DD-II) is a… Orphanet, OMIM, ICD-10
Dentin dysplasia type I 99789 Dentin dysplasia type I (DD-I) is a… Orphanet, MeSH, ICD-10
Cleft velum 99772 Cleft velum is a fissure type… Orphanet, ICD-10, OMIM
Bifid uvula 99771 Bifid uvula is a fissure type… Orphanet, ICD-10
Familial hyperreninemic hypoaldosteronism type 1 99763 Orphanet, OMIM, OMIM, ICD-10
Embryonal rhabdomyosarcoma 99757 Orphanet, ICD-10, OMIM, MeSH, MedDRA
Alveolar rhabdomyosarcoma 99756 Orphanet, ICD-10, OMIM, MeSH, MedDRA
Kostmann syndrome 99749 Kostmann syndrome is a rare, severe,… Orphanet, ICD-10, OMIM
Amish lethal microcephaly 99742 A very rare syndrome characterized by… Orphanet, MeSH, ICD-10, OMIM
King-Denborough syndrome 99741 King-Denborough syndrome is a rare… Orphanet, ICD-10, MeSH, OMIM
Acetazolamide-responsive myotonia 99736 A form of potassium-aggravated myotonia… Orphanet, ICD-10, OMIM
Myotonia permanens 99735 A very rare, persistent and more severe… Orphanet, OMIM, ICD-10
Myotonia fluctuans 99734 A form of potassium-aggravated myotonia… Orphanet, OMIM, ICD-10
Isolated sulfite oxidase deficiency 99731 Orphanet, ICD-10, OMIM
Pituitary gigantism 99725 A rare endocrine disease characterized… Orphanet, MeSH, MedDRA, ICD-10, OMIM
Leber plus disease 99718 A rare inherited mitochondrial disease… Orphanet, ICD-10, OMIM, OMIM
Primary dystonia, DYT2 type 99657 A rare isolated dystonia characterized… Orphanet, OMIM, ICD-10
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