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Diseases

Classic Phenylketonuria

classic phenylketonuria

Entity Type
Diseases
Relation Groups
1
Relation Preview
8

Basic Information

Grouped by core information, identifiers, and descriptions.

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Core Information

Disease Name
Classic Phenylketonuria
Standard Disease Name
classic phenylketonuria
MeSH Tree
No data
ICD-10
E70.0

Identifiers

DO ID
No data
MeSH ID
D010661
OMIM ID
612349|261600|MTHU010141
UMLS ID
C0751434
HPO ID
No data

Description and Extensions

Description
Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuro
Related

Direct relations and traceable candidates grouped by relation type.

Related Targets

target disease8 Targets
01
ACADM
acyl-CoA dehydrogenase medium chain
acyl-CoA dehydrogenase medium chain
02
BGLAP
bone gamma-carboxyglutamate protein
bone gamma-carboxyglutamate protein
04
G6PD
glucose-6-phosphate dehydrogenase
glucose-6-phosphate dehydrogenase
06
HADHA
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
07
OTC
ornithine carbamoyltransferase
ornithine carbamoyltransferase