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
  • OMIM:261600 (Orphanet:716)
  • GARD:0007383 (Orphanet-shared)
  • MESH:D010661 (Orphanet:716)
  • UMLS:C0031485 (Orphanet:716)
  • Orphanet:2209 (OMIM:261600)
  • NCIT:C81315 (MONDO:equivalentTo)
  • ICD9:270.1 (DOID:9281)
  • SCTID:7573000 (MONDO:equivalentTo)
  • ICD10:E70.0 (Orphanet:716)
  • ICD10:E70.1 (Orphanet:716)
  • Orphanet:716 (OMIM:261600)
  • MedDRA:10034872 (Orphanet:716)
  • DOID:9281 (MONDO:equivalentTo)
Subsets

ordo_disease, clingen

abbreviation
PKU [ MTHICD9_2006:270.1 DOID:9281 MONDO:Lexical Orphanet:716 https://omim.org/entry/261600 ]

clingen preferred
phenylketonuria [ 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://purl.obolibrary.org/obo/NCIT_C81315

http://identifiers.org/snomedct/7573000

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

http://identifiers.org/mesh/D010661

http://linkedlifedata.com/resource/umls/id/C0031485

http://www.orpha.net/ORDO/Orphanet_716

https://omim.org/entry/261600

has exact synonym

phenylalanine hydroxylase deficiency

phenylalaninemia

PKU

phenylketonuria

PAH deficiency

has related synonym

phenylpyruvic oligophrenia

hyperphenylalaninemia, non-PKU mild

phenylketonuria, maternal

oligophrenia phenylpyruvica

oligophrenia Phenylpyruvica

imbecilitus phenylpyruvica

HPA, non-PKU mild

id

MONDO:0009861