hyperinsulinemic hypoglycemia
http://purl.obolibrary.org/obo/MONDO_0005803
An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11. [ MESH:D046768 ]
Term info
- Orphanet:443095 (MONDO:equivalentTo)
- SCTID:42681006 (MONDO:equivalentTo)
- NCIT:C4375 (MONDO:relatedTo)
- DOID:13317 (MONDO:equivalentTo)
- EFO:0007318 (MONDO:equivalentTo)
- HP:0000825 (MONDO:otherHierarchy)
- OMIMPS:256450 (MONDO:equivalentTo)
disease_grouping, ordo_group_of_disorders
https://github.com/monarch-initiative/mondo/issues/3649
hyperinsulinemic hypoglycemia (disease)
An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11.
http://purl.obolibrary.org/obo/Orphanet_443095, http://identifiers.org/snomedct/42681006, https://omim.org/phenotypicSeries/PS256450, http://purl.obolibrary.org/obo/DOID_13317
persistent hyperinsulinemia hypoglycemia of infancy, hyperinsulinemia hypoglycemia, islet cell hyperplasia, hyperinsulinemic hypoglycemia (disease)
nesidioblastosis
MONDO:0005803