JSON

pancreatic hypoplasia-diabetes-congenital heart disease syndrome

^ http://purl.obolibrary.org/obo/MONDO_0010802

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis). [ Orphanet:2255 ]

Term info

database cross reference
  • MESH:C564011 (MONDO:equivalentTo)
  • DOID:0111733 (MONDO:equivalentTo)
  • Orphanet:2255 (OMIM:600001)
  • SCTID:722206009 (MONDO:equivalentTo)
  • GARD:0000347 (MONDO:equivalentTo)
  • OMIM:600001 (Orphanet:2255/e)
Subsets

ordo_disease

abbreviation
HDCA [ OMIM:600001 MONDO:Lexical ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5723, https://github.com/monarch-initiative/mondo/issues/4069

definition

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).

exactMatch

http://identifiers.org/mesh/C564011, http://purl.obolibrary.org/obo/Orphanet_2255, http://purl.obolibrary.org/obo/DOID_0111733, https://omim.org/entry/600001, http://identifiers.org/snomedct/722206009

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005015

has exact synonym

Yorifuji-Okuno syndrome, pancreatic hypoplasia-diabetes-congenital heart disease syndrome

has related synonym

pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease, pancreatic agenesis and congenital heart defects, congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease, heart defects, congenital, and other congenital anomalies, Yorifuji Okuno syndrome, HDCA, hereditary pancreatic hypoplasia, diabetes mellitus and congenital heart disease

id

MONDO:0010802