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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:Bifid Femur with Monodactylous Ectrodactyly
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Accession:DOID:9002821 term browser browse the term
Synonyms:exact_synonym: Gollop-Wolfgang complex;   Unilateral Bifid Femur with Monodactylous Ectrodactyly
 primary_id: MESH:C537917
 alt_id: OMIM:228250


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Bifid Femur with Monodactylous Ectrodactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BHLHA9 basic helix-loop-helix family member a9 ISO ClinVar Annotator: match by term: Gollop-Wolfgang complex ClinVar PMID:25741868 NCBI chr17:1,254,307...1,255,919 JBrowse link
G TRARG1 trafficking regulator of GLUT4 (SLC2A4) 1 ISO ClinVar Annotator: match by term: Gollop-Wolfgang complex ClinVar PMID:25741868 NCBI chr17:1,262,220...1,286,565
Ensembl chr17:1,162,442...1,186,181 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15697
    Developmental Disease 13612
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12656
        Congenital Abnormalities 7512
          Multiple Abnormalities 3652
            Bifid Femur with Monodactylous Ectrodactyly 2
Path 2
Term Annotations click to browse term
  disease 15697
    Developmental Disease 13612
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12656
        Congenital Abnormalities 7512
          Musculoskeletal Abnormalities 3285
            Congenital Limb Deformities 1029
              Congenital Upper Extremity Deformities 214
                Congenital Hand Deformities 188
                  Bifid Femur with Monodactylous Ectrodactyly 2
paths to the root