Search Ontology:
Human Disease

phenylketonuria

Term ID
DOID:9281
Synonyms
  • Folling's disease
  • maternal phenylketonuria
  • phenylalaninemia
  • PKU
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. (2)
References
  • GARD:7383
  • ICD9CM:270.1
  • MESH:D010661
  • MESH:D017042
  • MIM:261600
  • NCI:C81315
  • ORDO:716
  • SNOMEDCT_US_2023_03_01:154735006
  • SNOMEDCT_US_2023_03_01:297225000
  • UMLS_CUI:C0031485
  • UMLS_CUI:C0085547
Ontology
Human Disease   ( DOID:9281 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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