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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:Cardioacrofacial Dysplasia 1
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Accession:DOID:9004765 term browser browse the term
Synonyms:exact_synonym: CAFD1
 primary_id: OMIM:619142


show annotations for term's descendants           Sort by:
Cardioacrofacial Dysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRKACA protein kinase cAMP-activated catalytic subunit alpha ISO ClinVar Annotator: match by term: Cardioacrofacial dysplasia 1 OMIM
ClinVar		 PMID:25741868 PMID:33058759 NCBI chr 2:65,074,876...65,095,564
Ensembl chr 2:65,074,870...65,095,551 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    physical disorder 4824
      congenital heart disease 1321
        Cardioacrofacial Dysplasia 2
          Cardioacrofacial Dysplasia 1 1
Path 2
Term Annotations click to browse term
  disease 17415
    Developmental Disease 17263
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17177
        Congenital Abnormalities 7314
          Cardiovascular Abnormalities 1513
            congenital heart disease 1321
              Cardioacrofacial Dysplasia 2
                Cardioacrofacial Dysplasia 1 1
paths to the root