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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:developmental dysplasia of the hip
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Accession:DOID:0060930 term browser browse the term
Definition:A bone development disease characterized by abnormality of the seating of the femoral head in the acetabulum. (DO)
Synonyms:exact_synonym: DDH;   acetabular dysplasia;   developmental hip dysplasia
 primary_id: MESH:D000082602
 xref: OMIM:PS142700


show annotations for term's descendants           Sort by:
developmental dysplasia of the hip term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Acetabular dysplasia ClinVar PMID:8244341 PMID:16755660 PMID:17726487 PMID:18553548 PMID:19764028 More... NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
developmental dysplasia of the hip 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP::rs143383(human)		 CTD
RGD		 PMID:18947434 PMID:18947434 RGD:12738201 NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612 		JBrowse link
Developmental Dysplasia of the Hip 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Developmental dysplasia of the hip 3 OMIM
ClinVar		 PMID:36067312 NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      bone development disease 2307
        developmental dysplasia of the hip 3
          Developmental Dysplasia of the Hip 3 1
          developmental dysplasia of the hip 1 1
          developmental dysplasia of the hip 2 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Skin and Connective Tissue Diseases 7461
        connective tissue disease 5787
          bone disease 4302
            bone development disease 2307
              developmental dysplasia of the hip 3
                Developmental Dysplasia of the Hip 3 1
                developmental dysplasia of the hip 1 1
                developmental dysplasia of the hip 2 0
paths to the root