Metadata | |
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ID | DOID:0070219 |
Name | familial hyperinsulinemic hypoglycemia 1 |
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. https://www.ncbi.nlm.nih.gov/pubmed/8545179, https://www.ncbi.nlm.nih.gov/pubmed/7005072, https://www.ncbi.nlm.nih.gov/pubmed/7716548 |
Xrefs | |
Synonyms |
HHF1 [EXACT] |
Parent Relationships |
is_a autosomal dominant disease |
Subclass Logical Relationships |
has phenotype some Abnormal blood glucose concentration has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance |