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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;   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;   coxa plana;   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: EFO:0007341;   GARD:6874;   ICD10CM:M91.2;   ICD10CM:M91.3;   MONDO:0007885;   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 ClinVar Annotator: match by term: Coxa plana | ClinVar Annotator: match by term: Legg-Calve-Perthes disease | ClinVar Annotator: match by term: Osteochondritis deformans OMIM
ClinVar		 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... NCBI chr12:40,726,137...40,757,690 JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Legg-Calve-Perthes disease ClinVar PMID:19617216 PMID:20301728 PMID:23566849 PMID:25505245 PMID:25741868 More... NCBI chr12:99,328,026...99,418,151
Ensembl chr12:102,729,615...102,816,560 		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 ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy OMIM
ClinVar		 PMID:25741868 PMID:25741916 PMID:26633546 PMID:28492532 NCBI chr14:55,633,667...55,678,670
Ensembl chr14:74,478,387...74,522,320 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      musculoskeletal system disease 7804
        bone disease 3850
          osteochondrosis 6
            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 17996
    disease of anatomical entity 15260
      Skin and Connective Tissue Diseases 6860
        connective tissue disease 5332
          bone disease 3850
            ischemic bone disease 29
              osteonecrosis 26
                Femur Head Necrosis 18
                  Legg-Calve-Perthes disease 3
                    ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY 1
                    Garret Tripp Syndrome 0
paths to the root