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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:Achondroplastic Dwarfism
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Accession:DOID:9008166 term browser browse the term
Synonyms:primary_id: MESH:C531599

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Achondroplastic Dwarfism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Achondroplastic dwarfism ClinVar PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 More... NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14102
    disease of anatomical entity 13770
      endocrine system disease 5515
        Dwarfism 787
          achondroplasia 50
            Achondroplastic Dwarfism 1
Path 2
Term Annotations click to browse term
  disease 14102
    disease of anatomical entity 13770
      musculoskeletal system disease 7235
        connective tissue disease 4911
          bone disease 3621
            bone development disease 2143
              Dwarfism 787
                achondroplasia 50
                  Achondroplastic Dwarfism 1
paths to the root