Term Name: | multicentric carpotarsal osteolysis syndrome |
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Synonyms: | autosomal dominant multicentric osteolysis, hereditary osteolysis of carpal bones with or without nephropathy, idiopathic multicentric osteolysis with or without nephropathy, MCTO, multicentric carpo-tarsal osteolysis with or without nephropathy, multicentric osteolysis nephropathy |
Definition: | A syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. |
Ontology: | Human Disease [DOID:0111534] ( DOID:0111534 ) |