Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B583bea0d7f04f9cf911e331ed25c07e3> ?p ?o ?g. }
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- B583bea0d7f04f9cf911e331ed25c07e3 hasDbXref "Orphanet:79299" @default.
- B583bea0d7f04f9cf911e331ed25c07e3 type Axiom @default.
- B583bea0d7f04f9cf911e331ed25c07e3 annotatedProperty IAO_0000115 @default.
- B583bea0d7f04f9cf911e331ed25c07e3 annotatedSource MONDO_0011236 @default.
- B583bea0d7f04f9cf911e331ed25c07e3 annotatedTarget "Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism, caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." @default.