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MIRAGE
phenylketonuria

Summary
Synonym
  • Folling's disease
  • PKU
  • maternal phenylketonuria
  • phenylalaninemia
Definition
An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.
Super Class
amino acid metabolic disorder
Disease Ontology
DOID:9281
Mondo Disease Ontology
MeSH
UMLS
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MGI genotype (from TogoID)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: December 8, 2025