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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
Ensembl chr 1:244,210,314...244,376,721 		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
Ensembl chr 1:244,408,785...244,426,888 		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 1:244,426,892...244,514,188
Ensembl chr 1:244,426,896...244,514,163 		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
Ensembl chr 1:244,584,652...244,590,359 		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
Ensembl chr 1:244,595,644...244,597,591 		JBrowse link
G Oga O-GlcNAcase ISO ClinVar Annotator: match by term: Hypoplastic femurs and pelvis ClinVar PMID:34433009 NCBI chr 1:244,598,285...244,633,835
Ensembl chr 1:244,598,292...244,634,359 		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
Ensembl chr 1:244,400,204...244,408,662 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19104
    Developmental Disease 14615
      bone development disease 2379
        HYPOPLASTIC FEMURS AND PELVIS 7
Path 2
Term Annotations click to browse term
  disease 19104
    disease of anatomical entity 18445
      musculoskeletal system disease 8498
        connective tissue disease 5967
          bone disease 4417
            bone development disease 2379
              HYPOPLASTIC FEMURS AND PELVIS 7
paths to the root