Reduced phenylalanine hydroxylase activity

Symptom Information:

Symptom ID: HPO:0005982
Synonyms:
Phenylalanine hydroxylase deficiency [HPO:0005982]
Phenylalanine hydroxylase deficiency [OMIM:Phenylalanine hydroxylase deficiency]
Quality:
Cross references:
OMIM: "Phenylalanine hydroxylase deficiency" [OMIM:Phenylalanine hydroxylase deficiency]
Is a (Direct Parents):
HPO         Abnormality of phenylalanine metabolism
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of carboxylic acid metabolism(HPO:0004354)
             Abnormality of amino acid metabolism(HPO:0004337)
                Abnormality of aromatic amino acid family metabolism(HPO:0004338)
                   Abnormality of phenylalanine metabolism(HPO:0010893)
                      Reduced phenylalanine hydroxylase activity(HPO:0005982)
MedDRA:
Database Frequency: 2 / 7739
Resource:

All diseases associated with this symptom:

Maternal hyperphenylalaninemia (Orphanet:2209)
Phenylketonuria (Orphanet:716)