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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 18030
    Stomatognathic Diseases 1148
      Stomatognathic System Abnormalities 420
        Tooth Abnormalities 154
          Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only 1
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal dominant disease 5048
                cleidocranial dysplasia 8
                  Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only 1
paths to the root