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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 SKELETAL MALFORMATIONS SYNDROME
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Accession:DOID:9004222 term browser browse the term
Definition:A disease characterized by atrial and ventricular septal defects, with aortic root dilation in adulthood. Failure to thrive is observed during infancy and early childhood.
Synonyms:exact_synonym: CHDSKM
 primary_id: OMIM:617602
For additional species annotation, visit the Alliance of Genome Resources.



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CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase IAGP ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
ClinVar Annotator: match by term: Congenital heart defects and skeletal malformations syndrome
OMIM
ClinVar
PMID:25741868 PMID:28288113 PMID:28492532 PMID:32643838 PMID:33223528 More... NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,016...130,887,675
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22067
    physical disorder 4764
      congenital heart disease 1405
        CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 22067
    Developmental Disease 16495
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 14196
        Congenital Abnormalities 8535
          Cardiovascular Abnormalities 1470
            congenital heart disease 1405
              CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME 1
paths to the root