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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
 broad_synonym: ABL1-RELATED CONDITION;   ABL1-RELATED DISORDER
 primary_id: MIM:617602


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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 ISO ClinVar Annotator: match by term: Congenital heart defects and skeletal malformations syndrome OMIM
ClinVar		 PMID:11753652 PMID:16912036 PMID:25741868 PMID:28288113 PMID:28492532 More... NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19104
    Developmental Disease 14615
      congenital heart disease 1405
        CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 19104
    Developmental Disease 14615
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13628
        Congenital Abnormalities 7783
          Cardiovascular Abnormalities 1606
            congenital heart disease 1405
              CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME 1
paths to the root