Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  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 Valgum
go back to main search page
Accession:DOID:9008214 term browser browse the term
Definition:An inward slant of the thigh in which the knees are close together and the ankles far apart. Genu valgum can develop due to skeletal and joint dysplasias (e.g., OSTEOARTHRITIS; HURLER SYNDROME); and malnutrition (e.g., RICKETS; FLUORIDE POISONING).
Synonyms:exact_synonym: Genu Valga;   Genu Valgas;   Genu Valgums;   Knock Knee;   Knock Knees
 primary_id: MESH:D056304
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Genu Valgum term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Genu valgum ClinVar PMID:10090476 PMID:10607472 PMID:11257506 PMID:12673791 PMID:12707442 More... NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO DNA:mutation:intron:c.57+1G>A (human) RGD PMID:24057284 RGD:10401244 NCBI chr 4:84,498,159...84,532,847
Ensembl chr 4:84,500,212...84,532,776
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      musculoskeletal system disease 7282
        bone disease 3815
          Genu Valgum 2
            Genu Valgum, St Helena Familial 0
            Noneruption of Teeth with Maxillary Hypoplasia and Genu Valgum 0
            Stoelinga de Koomen Davis Syndrome 0
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      musculoskeletal system disease 7282
        connective tissue disease 5140
          bone disease 3815
            Genu Valgum 2
              Genu Valgum, St Helena Familial 0
              Noneruption of Teeth with Maxillary Hypoplasia and Genu Valgum 0
              Stoelinga de Koomen Davis Syndrome 0
paths to the root