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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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		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 chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:26633546 PMID:28492532 NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      musculoskeletal system disease 8306
        bone disease 4302
          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 18969
    disease of anatomical entity 18248
      Skin and Connective Tissue Diseases 7461
        connective tissue disease 5786
          bone disease 4302
            ischemic bone disease 31
              osteonecrosis 28
                Femur Head Necrosis 20
                  Legg-Calve-Perthes disease 3
                    ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY 1
                    Garret Tripp Syndrome 0
paths to the root