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dermatoosteolysis, Kirghizian type
Disease Summary
Associated Targets ()
Mondo Description Dermatoosteolysis, Kirghizian type, is characterised by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
GARD:0001814
MESH:C535373
OMIM:221810
Orphanet:1657
SCTID:721090002
UMLS:C1857301
MONDO:0009095
High level summary of knowledge for a disease, including descriptions and datasource references.