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
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