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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: OMIM:142669
 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RGD1564308 similar to LOC495042 protein ISO ClinVar Annotator: match by term: Hip dysplasia, beukes type ClinVar PMID:2389793 PMID:21228277 PMID:26428751 NCBI chr16:49,485,022...49,509,756
Ensembl chr16:49,485,256...49,509,767
JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: OSTEOARTHROPATHY, PREMATURE DEGENERATIVE, OF HIP
ClinVar Annotator: match by term: Hip dysplasia, beukes type
OMIM
ClinVar
PMID:2389793 PMID:21228277 PMID:25741868 PMID:26428751 PMID:28892125 NCBI chr16:49,465,958...49,484,975
Ensembl chr16:49,465,968...49,484,985
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Diseases of the Aged 1243
      osteoarthritis 236
        Beukes hip dysplasia 2
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      Immune & Inflammatory Diseases 3585
        immune system disease 2954
          primary immunodeficiency disease 2373
            autoimmune disease 1693
              autoimmune disease of musculoskeletal system 942
                rheumatic disease 734
                  osteoarthritis 236
                    Beukes hip dysplasia 2
paths to the root