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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:Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only
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Accession:DOID:9007220 term browser browse the term
Synonyms:primary_id: MESH:C563974;   RDO:0013085
For additional species annotation, visit the Alliance of Genome Resources.



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Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Runx2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: Cleidocranial dysplasia, forme fruste, dental anomalies only ClinVar PMID:10545612 NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    Stomatognathic Diseases 1012
      Stomatognathic System Abnormalities 385
        Tooth Abnormalities 156
          Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only 1
Path 2
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          monogenic disease 7165
            autosomal genetic disease 6315
              autosomal dominant disease 4479
                cleidocranial dysplasia 7
                  Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only 1
paths to the root