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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      bone development disease 1326
        APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      musculoskeletal system disease 5637
        connective tissue disease 3651
          bone disease 2997
            bone development disease 1326
              APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS 1
paths to the root