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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:Osteofibrous Dysplasia
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Accession:DOID:9002127 term browser browse the term
Synonyms:exact_synonym: OFD;   OSFD;   bowing of tibia with pseudarthrosis and pectus excavatum
 related_synonym: osteofibrous dysplasia, susceptibility to
 primary_id: MESH:C563276
 alt_id: DOID:9006748;   MESH:C563787;   MIM:607278


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Osteofibrous Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Osteofibrous dysplasia | ClinVar Annotator: match by term: TIBIA, BOWING OF, WITH PSEUDARTHROSIS AND PECTUS EXCAVATUM | ClinVar Annotator: match by term: Tibia, bowing of, with pseudarthrosis and pectus excavatum
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:1270474 PMID:9234973 PMID:11042681 PMID:12920089 PMID:14559814 More... NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14661
      bone development disease 2385
        Osteofibrous Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      Skin and Connective Tissue Diseases 7769
        connective tissue disease 5917
          bone disease 4362
            bone development disease 2385
              Funnel Chest 11
                Osteofibrous Dysplasia 1
paths to the root