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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:Campomelic Dysplasia with Autosomal Sex Reversal
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Accession:DOID:9003184 term browser browse the term
Synonyms:xref: MESH:C564282


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Campomelic Dysplasia with Autosomal Sex Reversal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by term: CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL ClinVar PMID:1809232 PMID:7485151 PMID:7990924 PMID:8001137 PMID:8894698 More... NCBI chr10:98,305,744...98,311,250
Ensembl chr10:98,305,744...98,311,250 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      musculoskeletal system disease 4517
        Musculoskeletal Abnormalities 1594
          campomelic dysplasia 1
            Campomelic Dysplasia with Autosomal Sex Reversal 1
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      Skin and Connective Tissue Diseases 4866
        connective tissue disease 3414
          bone disease 2876
            bone development disease 1148
              osteochondrodysplasia 687
                campomelic dysplasia 1
                  Campomelic Dysplasia with Autosomal Sex Reversal 1
paths to the root