multicentric carpotarsal osteolysis syndrome (DOID:0111534)
Alliance: disease page
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
Alt IDs: OMIM:166300, MESH:C567171, NCI:C178416, ORDO:2774, UMLS_CUI:C2674705
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.