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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.


show annotations for term's descendants           Sort by:
 
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 null
ClinVar Annotator: match by term: Campomelic dysplasia with autosomal sex reversal
ClinVar PMID:1809232 PMID:7485151 PMID:7990924 PMID:8001137 PMID:8894698 PMID:9002675 PMID:11076045 PMID:11323423 PMID:15806394 PMID:25741868 PMID:26633542 PMID:28492532 NCBI chr10:101,288,528...101,294,030
Ensembl chr10:101,288,489...101,293,379
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      endocrine system disease 5792
        gonadal disease 1008
          disorder of sexual development 162
            Campomelic Dysplasia with Autosomal Sex Reversal 1
Path 2
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        genetic disease 8941
          monogenic disease 7121
            autosomal genetic disease 6276
              autosomal dominant disease 4450
                campomelic dysplasia 1
                  Campomelic Dysplasia with Autosomal Sex Reversal 1
paths to the root