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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:Legg-Calve-Perthes disease
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Accession:DOID:14415 term browser browse the term
Definition:An osteochondrosis that results_in death and fracture located_in hip joint. (DO)
Synonyms:exact_synonym: Calve - Perthes' disease;   Coxa Plana;   Juvenile osteochond-hip/pelvis;   LCP;   LCPD;   Legg Calve Perthes Syndrome;   Legg Calvé Perthes Disease;   Legg Calvé Perthes Syndrome;   Legg Perthes Disease;   Osteochondritis Deforman;   Osteochondritis Deformans;   Perthe's disease;   Perthes Disease;   juvenile osteochondrosis of hip and pelvis;   juvenile osteochondrosis of hip and/or pelvis;   osteochondrosis of Legg-Calve-Perthes;   pseudocoxalgia
 related_synonym: Legg-Calve-Perthes symptom
 primary_id: MESH:D007873
 alt_id: OMIM:150600
 xref: GARD:6874;   ICD10CM:M91.2;   ICD10CM:M91.3;   NCI:C34766
For additional species annotation, visit the Alliance of Genome Resources.


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Legg-Calve-Perthes disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO OMIM NCBI chrNW_004955500:6,860,771...6,885,466
Ensembl chrNW_004955500:6,860,771...6,885,473
JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Coxa plana ClinVar PMID:19617216 PMID:23566849 PMID:25505245 PMID:25741868 PMID:25788519 PMID:28492532 NCBI chrNW_004955405:37,107,902...37,136,993
Ensembl chrNW_004955405:37,107,542...37,136,993
JBrowse link
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek9 NIMA related kinase 9 ISO OMIM NCBI chrNW_004955523:443,832...483,397
Ensembl chrNW_004955523:446,748...482,246
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12691
    disease of anatomical entity 12366
      musculoskeletal system disease 5516
        bone disease 2510
          osteochondrosis 4
            Legg-Calve-Perthes disease 3
              ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY 1
              Garret Tripp Syndrome 0
Path 2
Term Annotations click to browse term
  disease 12691
    disease of anatomical entity 12366
      musculoskeletal system disease 5516
        connective tissue disease 3660
          bone disease 2510
            ischemic bone disease 23
              osteonecrosis 22
                Femur Head Necrosis 14
                  Legg-Calve-Perthes disease 3
                    ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY 1
                    Garret Tripp Syndrome 0
paths to the root