Preferred Name |
phenylketonuria |
|
Synonyms |
phenylpyruvic oligophrenia |
|
Definitions |
group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme phenylaline hydroxylase or less frequently by reduced activity of dihydropteridine reductase. |
|
ID |
http://purl.bioontology.org/ontology/CSP/1849-1234 |
|
altLabel |
phenylpyruvic oligophrenia PKU |
|
cui |
C0031485 C0751434 |
|
definition |
group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme phenylaline hydroxylase or less frequently by reduced activity of dihydropteridine reductase. |
|
DID |
1849-1234 |
|
Inverse of RB | ||
Inverse of RO | ||
notation |
1849-1234 |
|
prefLabel |
phenylketonuria |
|
tui |
T047 |
|
subClassOf |
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