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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;   pancreatic hypoplasia-diabetes-heart disease
 primary_id: MESH:C564011
 alt_id: DOID:9004418;   MESH:C536714;   OMIM:600001


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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 term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8071961 PMID:19666519 PMID:20581743 PMID:22158542 PMID:22962692 More... NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21112
    syndrome 10710
      pancreatic hypoplasia-diabetes-congenital heart disease syndrome 1
Path 2
Term Annotations click to browse term
  disease 21112
    Developmental Disease 18434
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18288
        genetic disease 18231
          inherited metabolic disorder 6169
            carbohydrate metabolic disorder 3227
              glucose metabolism disease 2028
                diabetes mellitus 1618
                  pancreatic hypoplasia-diabetes-congenital heart disease syndrome 1
paths to the root