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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:APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS
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Accession:DOID:9004999 term browser browse the term



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APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Aplasia/hypoplasia involving bones of the lower limbs ClinVar NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      bone development disease 2307
        APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        connective tissue disease 5787
          bone disease 4302
            bone development disease 2307
              APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS 1
paths to the root