loading...| Preferred Name | classic phenylketonuria | |
| Synonyms |
classic PKU |
|
| Definitions |
Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019259 |
|
| closeMatch | ||
| database_cross_reference |
MedDRA:10034875 icd11.foundation:2084504393 MEDGEN:199655 Orphanet:79254 UMLS:C0751434 GARD:18982 |
|
| definition |
Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications. |
|
| exactMatch |
http://linkedlifedata.com/resource/umls/id/C0751434 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/2084504393 |
|
| has_exact_synonym |
classic PKU |
|
| IAO_0000233 | ||
| id |
MONDO:0019259 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_subtype_of_a_disorder |
|
| label |
classic phenylketonuria |
|
| notation |
MONDO:0019259 |
|
| preferred label |
classic phenylketonuria |
|
| prefLabel |
classic phenylketonuria |
|
| subClassOf |