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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:primary_id: MESH:C564282;   RDO:0013301


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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 chr12:8,642,154...8,647,315
Ensembl chr12:8,642,158...8,647,315 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      endocrine system disease 5955
        gonadal disease 1170
          disorder of sexual development 218
            Campomelic Dysplasia with Autosomal Sex Reversal 1
Path 2
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17174
        genetic disease 17155
          monogenic disease 9978
            autosomal genetic disease 9202
              autosomal dominant disease 6055
                campomelic dysplasia 1
                  Campomelic Dysplasia with Autosomal Sex Reversal 1
paths to the root