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DOID:0111534 - multicentric carpotarsal osteolysis syndrome
Disease Ontology 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.
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
Xenbase Genes
:
mafb
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)