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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: OMIM:607278
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Osteofibrous Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Met MET proto-oncogene, receptor tyrosine kinase susceptibility ISO ClinVar Annotator: match by term: Osteofibrous dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1270474 PMID:9234973 PMID:12920089 PMID:16203897 PMID:21970370 PMID:24728327 PMID:25741868 PMID:26637977 PMID:28166811 PMID:28259294 PMID:28492532 PMID:29641532 NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      bone development disease 1371
        Osteofibrous Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      musculoskeletal system disease 6244
        connective tissue disease 4355
          bone disease 3040
            bone development disease 1371
              Osteofibrous Dysplasia 1
paths to the root