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phenylketonuria

^ http://purl.obolibrary.org/obo/DOID_9281


An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. [ url:http://en.wikipedia.org/wiki/Phenylketonuria ]

Synonyms: phenylalaninemia, F��lling's disease, maternal phenylketonuria, PKU

Term info

database cross reference
  • UMLS_CUI:C0031485
  • SNOMEDCT_US_2018_03_01:297225000
  • MTHICD9_2006:270.1
  • SNOMEDCT_US_2018_03_01:154735006
  • SNOMEDCT_US_2018_03_01:190687004
  • UMLS_CUI:C0085547
  • MESH:D017042
  • OMIM:261600
  • NCI:C81315
  • MESH:D010661
  • CSP2005:1849-1177
  • ICD9CM:270.1
comment

OMIM mapping confirmed by DO. [SN].

has alternative id

DOID:14455

has obo namespace

disease_ontology

id

DOID:9281

Term relations