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Standards Ontologies Notations
familial hyperinsulinemic hypoglycemia 1

Summary
Synonym
  • HHF1
Definition
A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the ABCC8 gene on chromosome 11p15.
Super Class
autosomal dominant disease autosomal recessive disease hyperinsulinemic hypoglycemia
Disease Ontology
DOID:0070219
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6833 ABCC8 ATP binding cassette subfamily C member 8
Displaying 1 entry
Gene ID Gene Symbol Description Source
20927 Abcc8 ATP-binding cassette, sub-family C member 8
Displaying 1 entry
Gene ID Gene Symbol Description Source
25559 Abcc8 ATP binding cassette subfamily C member 8
Displaying 1 entry
Gene ID Gene Symbol Description Source
850678 YBT1 bile acid-transporting ATPase YBT1
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024