OBO ID: DOID:9281
Term Name: phenylketonuria Search Ontology:
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
  • NCI:C81315
  • OMIM:261600
  • 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 phenylketonuria PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PAH Phenylketonuria 261600
[Hyperphenylalaninemia, non-PKU mild] 261600
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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