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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:Beukes hip dysplasia
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Accession:DOID:0111367 term browser browse the term
Definition:An osteoarthritis characterized by bilateral dysmorphism of the proximal femur resulting in severe progressive degenerative osteoarthritis of the hip joint in early adulthood that has_material_basis_in heterozygous mutation in UFSP2 on chromosome 4q35.1. (DO)
Synonyms:exact_synonym: BFHD;   BHD;   Beukes familial hip dysplasia;   Cilliers-Beighton syndrome;   Hip Dysplasia, Beukes Type;   premature degenerative osteoarthropathy of hip;   premature degenerative osteoarthropathy of the hip
 primary_id: MESH:C564185
 alt_id: MIM:142669
 xref: GARD:2690;   ORDO:2114


show annotations for term's descendants           Sort by:
Beukes hip dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd37 ankyrin repeat domain 37 ISO ClinVar Annotator: match by term: Hip dysplasia, Beukes type ClinVar PMID:25741868 NCBI chr16:53,001,487...53,004,545
Ensembl chr16:46,268,443...46,271,963 		JBrowse link
G Cfap96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: Hip dysplasia, Beukes type | ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr16:53,023,623...53,048,176
Ensembl chr16:46,291,311...46,315,625 		JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: Hip dysplasia, Beukes type | ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2389793 PMID:21228277 PMID:25741868 PMID:26428751 PMID:28492532 More... NCBI chr16:53,004,590...53,023,640
Ensembl chr16:46,272,016...46,291,059 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    Diseases of the Aged 1476
      osteoarthritis 254
        Beukes hip dysplasia 3
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      Skin and Connective Tissue Diseases 7769
        connective tissue disease 5916
          bone disease 4362
            bone inflammation disease 1560
              arthropathy 1539
                arthritis 1108
                  osteoarthritis 254
                    Beukes hip dysplasia 3
paths to the root