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Metadata
ID DOID:0111534
Name multicentric carpotarsal osteolysis syndrome
Definition A syndrome characterized by progressive loss of bone, typically involving the capsal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in MAFB on chromosome 20q12.
https://www.ncbi.nlm.nih.gov/pubmed/22387013, https://www.ncbi.nlm.nih.gov/pubmed/3041835
Xrefs

GARD:3818

MESH:C567171

OMIM:166300

ORDO:2774

SNOMEDCT_US_2019_09_01:766992008

UMLS_CUI:C2674705

Synonyms

autosomal dominant multicentric osteolysis [EXACT]

hereditary osteolysis of carpal bones with or without nephropathy [EXACT]

idiopathic multicentric osteolysis with or without nephropathy [EXACT]

MCTO [EXACT]

multicentric carpo-tarsal osteolysis with or without nephropathy [EXACT]

multicentric osteolysis nephropathy [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal dominant disease

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