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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: EFO:1000648;   MIM: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 Ankrd37 ankyrin repeat domain 37 ISO ClinVar Annotator: match by term: Developmental dysplasia of the hip ClinVar PMID:25741868 NCBI chr16:46,268,933...46,271,971
Ensembl chr16:46,268,443...46,271,963 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Acetabular dysplasia ClinVar PMID:8024616 PMID:8244341 PMID:16755660 PMID:17726487 PMID:18553548 More... NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Trim33 tripartite motif-containing 33 ISO ClinVar Annotator: match by term: Developmental dysplasia of the hip ClinVar PMID:25741868 NCBI chr 2:190,812,329...190,892,663
Ensembl chr 2:190,807,243...190,888,814 		JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: Developmental dysplasia of the hip ClinVar PMID:25741868 NCBI chr16:46,272,016...46,291,080
Ensembl chr16:46,272,016...46,291,059 		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 DNA:SNP::rs143383(human) RGD 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 19137
    Developmental Disease 14663
      bone development disease 2385
        developmental dysplasia of the hip 6
          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 19137
    disease of anatomical entity 18450
      Skin and Connective Tissue Diseases 7769
        connective tissue disease 5917
          bone disease 4362
            bone development disease 2385
              developmental dysplasia of the hip 6
                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