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ONTOLOGY REPORT - ANNOTATIONS


Term:multicentric carpotarsal osteolysis syndrome
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Accession:DOID:0111534 term browser browse the term
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. (DO)
Synonyms:exact_synonym: MCTO;   hereditary osteolysis of carpal bones with or without nephropathy;   idiopathic multicentric osteolysis with or without nephropathy;   multicentric carpo-tarsal osteolysis with or without nephropathy;   multicentric osteolysis nephropathy;   multicentric osteolysis, autosomal dominant
 narrow_synonym: carpal osteolysis
 primary_id: MESH:C567171
 alt_id: OMIM:166300
 xref: GARD:3818;   ORDO:2774
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multicentric carpotarsal osteolysis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mafb MAF bZIP transcription factor B JBrowse link 3 156,338,993 156,340,913 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    syndrome 5379
      multicentric carpotarsal osteolysis syndrome 1
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      musculoskeletal system disease 5118
        connective tissue disease 3771
          bone disease 3277
            bone remodeling disease 422
              bone resorption disease 347
                Osteolysis 22
                  Osteolysis Hereditary Multicentric 3
                    multicentric carpotarsal osteolysis syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.