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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:HYPOPLASTIC FEMURS AND PELVIS
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Accession:DOID:9009052 term browser browse the term
Definition:This disease is characterized by congenital isolated bilateral hypoplasia of the femoral and pelvic bones.
Synonyms:exact_synonym: HYPOFP
 primary_id: MIM:619545



show annotations for term's descendants           Sort by:
HYPOPLASTIC FEMURS AND PELVIS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btrc beta-transducin repeat containing E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Hypoplastic femurs and pelvis ClinVar PMID:34433009 NCBI chr 1:244,210,299...244,380,126 JBrowse link
G Dpcd deleted in primary ciliary dyskinesia ISO ClinVar Annotator: match by term: Hypoplastic femurs and pelvis ClinVar PMID:34433009 NCBI chr 1:244,408,766...244,426,891 JBrowse link
G Fbxw4 F-box and WD repeat domain containing 4 ISO ClinVar Annotator: match by term: Hypoplastic femurs and pelvis ClinVar PMID:34433009 NCBI chr 1:254,375,921...254,465,173 JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Hypoplastic femurs and pelvis ClinVar PMID:34433009 NCBI chr 1:244,584,477...244,590,578 JBrowse link
G Npm3 nucleophosmin/nucleoplasmin, 3 ISO ClinVar Annotator: match by term: Hypoplastic femurs and pelvis ClinVar PMID:34433009 NCBI chr 1:244,595,638...244,597,623 JBrowse link
G Oga O-GlcNAcase ISO ClinVar Annotator: match by term: Hypoplastic femurs and pelvis ClinVar PMID:34433009 NCBI chr 1:254,547,311...254,589,596 JBrowse link
G Poll DNA polymerase lambda ISO ClinVar Annotator: match by term: Hypoplastic femurs and pelvis ClinVar PMID:34433009 NCBI chr 1:244,400,202...244,408,762 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14664
      bone development disease 2385
        HYPOPLASTIC FEMURS AND PELVIS 7
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      musculoskeletal system disease 8463
        connective tissue disease 5917
          bone disease 4362
            bone development disease 2385
              HYPOPLASTIC FEMURS AND PELVIS 7
paths to the root