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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
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Accession:DOID:9000250 term browser browse the term
Synonyms:xref: OMIM:PS619142


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 chr19:24,155,081...24,178,430
Ensembl chr19:24,155,090...24,178,430 		JBrowse link
Cardioacrofacial Dysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkacb protein kinase cAMP-activated catalytic subunit beta ISO ClinVar Annotator: match by term: Cardioacrofacial dysplasia 2 OMIM
ClinVar		 PMID:25741868 PMID:33058759 NCBI chr 2:235,636,878...235,726,928
Ensembl chr 2:235,636,885...235,726,198 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital heart disease 1349
        Cardioacrofacial Dysplasia 2
          Cardioacrofacial Dysplasia 1 1
          Cardioacrofacial Dysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        Congenital Abnormalities 7583
          Cardiovascular Abnormalities 1548
            congenital heart disease 1349
              Cardioacrofacial Dysplasia 2
                Cardioacrofacial Dysplasia 1 1
                Cardioacrofacial Dysplasia 2 1
paths to the root