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dermatoosteolysis, Kirghizian type

Disease Summary
Associated Targets (0)

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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.
Mondo Term and Equivalent IDs
MONDO:0009095:  dermatoosteolysis, Kirghizian type
GARD:0001814: 
MESH:C535373: 
Orphanet:1657: 
SCTID:721090002: 
UMLS:C1857301: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found