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

Synonyms: phenylalanine hydroxylase deficiency phenylalaninemia Følling's disease classical phenylketonuria maternal phenylketonuria PKU phenylketonuria PAH deficiency Folling's disease

This is just here as a test because I lose it

Term information

database cross reference
  • MedDRA:10034872 (Orphanet:716)
  • SCTID:7573000 (MONDO:equivalentTo)
  • Orphanet:716 (OMIM:261600)
  • GARD:0007383 (Orphanet-shared)
  • UMLS:C0031485 (Orphanet:716)
  • ICD10:E70.0 (Orphanet:716)
  • ICD10:E70.1 (Orphanet:716)
  • NCIT:C81315 (MONDO:kboom-pr-0.91/0.77/0.63)
  • DOID:9281 (MONDO:equivalentTo)
  • MESH:D010661 (Orphanet:716)
  • ICD9:270.1 (DOID:9281)
  • OMIM:261600 (Orphanet:716)
Subsets

ordo_disease, clingen

closeMatch

http://identifiers.org/snomedct/190687004

http://linkedlifedata.com/resource/umls/id/C2678416

http://identifiers.org/snomedct/154735006

http://identifiers.org/mesh/D017042

http://identifiers.org/snomedct/297225000

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://identifiers.org/omim/261600

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

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

http://identifiers.org/meddra/10034872

has related synonym

Pah deficiency

phenylketonuria; PKU

phenylpyruvic oligophrenia

oligophrenia phenylpyruvica

hyperphenylalaninemia, non-PKU mild

phenylketonuria, maternal

oligophrenia Phenylpyruvica

Folling disease

folling's syndrome

imbecilitus phenylpyruvica

HPA, non-PKU mild

pah deficiency

id

MONDO:0009861