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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;   PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS;   Yorifuji-Okuno syndrome;   congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease
 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 chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      pancreatic hypoplasia-diabetes-congenital heart disease syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal dominant disease 2996
                pancreatic hypoplasia-diabetes-congenital heart disease syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.