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multicentric carpo-tarsal osteolysis with or without nephropathy

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.
Uniprot Description A rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Mental retardation and minor facial anomalies have been noted in some patients.
Mondo Term and Equivalent IDs
MONDO:0008152:  multicentric carpo-tarsal osteolysis with or without nephropathy
DOID:0111534: 
GARD:0003818: 
GARD:0013042: 
MESH:C567171: 
Orphanet:2774: 
SCTID:766992008: 
UMLS:C2674705: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found