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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:CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
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Accession:DOID:9004191 term browser browse the term
Synonyms:exact_synonym: CHDED
 primary_id: OMIM:617364;   RDO:9001693


show annotations for term's descendants           Sort by:
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkd1 protein kinase D1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital heart defects and ectodermal dysplasia		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:27479907 PMID:28492532 PMID:32817298 NCBI chr 6:67,725,193...68,039,002
Ensembl chr 6:67,725,905...68,039,042 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital heart disease 1349
        CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        Neurologic Manifestations 10053
          sensory system disease 6962
            skin disease 3969
              Genetic Skin Diseases 1853
                ectodermal dysplasia 542
                  CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA 1
paths to the root