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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;   PRKD1-RELATED CONDITION
 primary_id: MIM:617364;   RDO:9001693


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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 ClinVar Annotator: match by term: Congenital heart defects and ectodermal dysplasia | ClinVar Annotator: match by term: PRKD1-related condition OMIM
ClinVar		 PMID:25741868 PMID:27479907 PMID:28492532 PMID:32817298 NCBI chr 6:73,460,640...73,774,433
Ensembl chr 6:73,460,640...73,836,509 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    physical disorder 5216
      congenital heart disease 1415
        CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Neurologic Manifestations 10446
          sensory system disease 7348
            skin disease 4336
              Skin Abnormalities 1322
                ectodermal dysplasia 550
                  CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA 1
paths to the root