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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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 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. (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
 broad_synonym: MAFB-RELATED CONDITION
 primary_id: MESH:C567171
 alt_id: OMIM:166300
 xref: GARD:3818;   NCI:C178416;   ORDO:2774


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multicentric carpotarsal osteolysis syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mafb MAF bZIP transcription factor B ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:166300
ClinVar Annotator: match by term: MAFB-related condition | ClinVar Annotator: match by term: Multicentric carpo-tarsal osteolysis with or without nephropathy		 OMIM
CTD
MouseDO
ClinVar		 PMID:20436469 PMID:22387013 PMID:24989131 PMID:25741868 PMID:28492532 More... NCBI chr 3:148,998,111...149,000,031
Ensembl chr 3:148,998,122...149,000,031 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    syndrome 10839
      multicentric carpotarsal osteolysis syndrome 1
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      musculoskeletal system disease 8277
        connective tissue disease 5762
          bone disease 4273
            bone remodeling disease 497
              bone resorption disease 375
                Osteolysis 37
                  Osteolysis Hereditary Multicentric 3
                    multicentric carpotarsal osteolysis syndrome 1
paths to the root