Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:Genu Varum
go back to main search page
Accession:DOID:9004552 term browser browse the term
Definition:An outward slant of the thigh in which the knees are wide apart and the ankles close together. Genu varum can develop due to skeletal and joint dysplasia (e.g., OSTEOARTHRITIS; Blount's disease); and malnutrition (e.g., RICKETS; FLUORIDE POISONING).
Synonyms:exact_synonym: Bow Leg;   Bow Legs;   Genu Varus
 primary_id: MESH:D056305;   RDO:0002856
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Genu Varum term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phex phosphate regulating endopeptidase homolog, X-linked ISO ClinVar Annotator: match by term: Bow legs ClinVar PMID:25741868 NCBI chr  X:40,460,047...40,717,982
Ensembl chr  X:40,460,047...40,717,982
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        bone disease 3534
          Genu Varum 1
            Weismann Netter Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        connective tissue disease 4103
          bone disease 3534
            Genu Varum 1
              Weismann Netter Syndrome 0
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.