|  Help  |  About  |  Contact Us

DO Term : multicentric carpotarsal osteolysis syndrome [DOID:0111534] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • 166300,
  • MCTO,
  • idiopathic multicentric osteolysis with or without nephropathy,
  • ORDO:2774,
  • multicentric osteolysis nephropathy,
  • GARD:3818,
  • multicentric carpo-tarsal osteolysis with or without nephropathy,
  • OMIM:166300,
  • UMLS_CUI:C2674705,
  • hereditary osteolysis of carpal bones with or without nephropathy,
  • MESH:C567171,
  • SNOMEDCT_US_2023_03_01:766992008,
  • autosomal dominant multicentric osteolysis,
  • NCI:C178416
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents