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ONTOLOGY REPORT - ANNOTATIONS


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 the hip;   premature degenerative osteoarthropathy of hip
 primary_id: MESH:C564185
 alt_id: DOID:9000876;   OMIM:142669;   RDO:0013228
 xref: GARD:2690;   ORDO:2114
For additional species annotation, visit the Alliance of Genome Resources.


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Beukes hip dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RGD1564308 similar to LOC495042 protein JBrowse link 16 49,485,022 49,509,756 RGD:8554872
G Ufsp2 UFM1-specific peptidase 2 JBrowse link 16 49,465,958 49,484,975 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    Diseases of the Aged 1172
      osteoarthritis 224
        Beukes hip dysplasia 2
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      Immune & Inflammatory Diseases 3107
        immune system disease 2528
          hypersensitivity reaction disease 1498
            autoimmune hypersensitivity disease 1203
              autoimmune disease of musculoskeletal system 839
                rheumatic disease 826
                  osteoarthritis 224
                    Beukes hip dysplasia 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.