Term Name: multicentric carpotarsal osteolysis syndrome
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 )

Relationships
is a type of: autosomal dominant disease syndrome