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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:pancreatic hypoplasia-diabetes-congenital heart disease syndrome
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Accession:DOID:0111733 term browser browse the term
Definition:A syndrome characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that has_material_basis_in heterozygous mutation in GATA6 on chromosome 18q11.2. (DO)
Synonyms:exact_synonym: Congenital Heart Defects, and Other Congenital Anomalies;   HDCA;   PACHD;   Yorifuji-Okuno syndrome;   congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease;   pancreatic agenesis and congenital heart defects
 primary_id: MESH:C564011
 alt_id: OMIM:600001
For additional species annotation, visit the Alliance of Genome Resources.


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pancreatic hypoplasia-diabetes-congenital heart disease syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by OMIM:600001
ClinVar Annotator: match by term: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
OMIM
ClinVar
PMID:8071961 PMID:22158542 PMID:22962692 PMID:24385578 PMID:25741868 NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      pancreatic hypoplasia-diabetes-congenital heart disease syndrome 1
Path 2
Term Annotations click to browse term
  disease 17205
    Nutritional and Metabolic Diseases 5535
      disease of metabolism 5535
        acquired metabolic disease 2894
          carbohydrate metabolism disease 1802
            glucose metabolism disease 1802
              diabetes mellitus 1407
                pancreatic hypoplasia-diabetes-congenital heart disease syndrome 1
paths to the root