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



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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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14411
    disease of anatomical entity 14133
      endocrine system disease 5437
        gonadal disease 1034
          disorder of sexual development 197
            Campomelic Dysplasia with Autosomal Sex Reversal 1
Path 2
Term Annotations click to browse term
  disease 14411
    Developmental Disease 11699
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10471
        genetic disease 10025
          monogenic disease 8176
            autosomal genetic disease 7267
              autosomal dominant disease 4912
                campomelic dysplasia 1
                  Campomelic Dysplasia with Autosomal Sex Reversal 1
paths to the root