FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term multicentric carpotarsal osteolysis syndrome ID (Ontology) DOID:0111534 (Human Disease)
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.
Also Known As "autosomal dominant multicentric osteolysis" ; "hereditary osteolysis of carpal bones with or without nephropathy" ; "idiopathic multicentric osteolysis with or without nephropathy" (for all, see Synonyms field below)
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 Genes
 multicentric carpotarsal osteolysis syndrome       1
 for disease ribbon | multicentric carpotarsal osteolysis syndrome       1
 model of | multicentric carpotarsal osteolysis syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                multicentric carpotarsal osteolysis syndrome  1 rec.
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Is a autosomal dominant disease
syndrome
Part of
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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 OMO:0003012
    "multicentric carpo-tarsal osteolysis with or without nephropathy" EXACT
    "multicentric osteolysis nephropathy" EXACT
Secondary IDs
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GARD:3818
MESH:C567171
MIM:166300
NCI:C178416
ORDO:2774
SNOMEDCT_US_2023_03_01:766992008
UMLS_CUI:C2674705