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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:Genu Valgum
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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;   RDO:0002682
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:12673791 PMID:12707442 PMID:15642848 PMID:16615913 PMID:18550408 PMID:18925671 PMID:24398345 PMID:24602495 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:127,505,646...127,523,016
Ensembl chr 5:127,505,614...127,523,089
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 4:85,587,321...85,602,389
Ensembl chr 4:85,588,595...85,601,666
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      musculoskeletal system disease 6419
        bone disease 3109
          Genu Valgum 2
            Genu Valgum, St Helena Familial 0
            Stoelinga de Koomen Davis Syndrome 0
            Teeth Noneruption of with Maxillary Hypoplasia and Genu Valgum 0
Path 2
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      musculoskeletal system disease 6419
        connective tissue disease 4426
          bone disease 3109
            Genu Valgum 2
              Genu Valgum, St Helena Familial 0
              Stoelinga de Koomen Davis Syndrome 0
              Teeth Noneruption of with Maxillary Hypoplasia and Genu Valgum 0
paths to the root