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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.


show annotations for term's descendants           Sort by:
 
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-Perthes disease
OMIM
ClinVar
PMID:15930420 PMID:17394019 PMID:25741868 PMID:28492532 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Coxa plana ClinVar PMID:25741868 NCBI chr 7:28,956,363...29,023,232
Ensembl chr 7:28,956,512...29,022,868
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 ClinVar
OMIM
PMID:25741868 PMID:26633546 PMID:28492532 NCBI chr 6:109,121,524...109,162,433
Ensembl chr 6:109,124,330...109,162,267
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17014
    disease of anatomical entity 16363
      musculoskeletal system disease 6301
        bone disease 3068
          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 17014
    disease of anatomical entity 16363
      musculoskeletal system disease 6301
        connective tissue disease 4386
          bone disease 3068
            ischemic bone disease 27
              osteonecrosis 24
                Femur Head Necrosis 16
                  Legg-Calve-Perthes disease 3
                    ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY 1
                    Garret Tripp Syndrome 0
paths to the root