Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients. [ Orphanet : 716 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:0007383 (MONDO:equivalentTo)
  • OMIM:261600 (Orphanet:716/e)
  • UMLS:C0031485 (Orphanet:716/e)
  • MESH:D010661 (Orphanet:716/e)
  • ICD9:270.1 (DOID:9281)
  • SCTID:7573000 (MONDO:equivalentTo)
  • NCIT:C81315 (MONDO:equivalentTo)
  • MedDRA:10034872 (Orphanet:716/e)
  • DOID:9281 (MONDO:equivalentTo)
  • Orphanet:716 (OMIM:261600)
Subsets

ordo_disease, clingen

abbreviation
PKU [ DOID : 9281 Orphanet : 716 MONDO : Lexical https://omim.org/entry/261600 ]
closeMatch
  • http://identifiers.org/meddra/10034872
definition
  • Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.
exactMatch
  • http://identifiers.org/snomedct/7573000
  • https://omim.org/entry/261600
  • http://identifiers.org/mesh/D010661
  • http://www.orpha.net/ORDO/Orphanet_716
  • http://linkedlifedata.com/resource/umls/id/C0031485
  • http://purl.obolibrary.org/obo/DOID_9281
  • http://purl.obolibrary.org/obo/NCIT_C81315
has exact synonym
  • PAH deficiency
  • PKU
  • phenylalanine hydroxylase deficiency
  • phenylalaninemia
  • hyperphenylalaninemia, non-PKU mild
  • phenylketonuria
has related synonym
  • HPA, non-PKU mild
  • oligophrenia phenylpyruvica
  • phenylketonuria, maternal
  • imbecilitus phenylpyruvica
  • phenylpyruvic oligophrenia
  • oligophrenia Phenylpyruvica
id
  • MONDO:0009861
term tracker item
  • https://github.com/monarch-initiative/mondo/issues/4985
  • https://github.com/monarch-initiative/mondo/issues/4521