Disease association ontology term - MONDO:0100186 - GTP cyclohydrolase I deficiency with hyperphenylalaninemia

Term summary

ID: MONDO:0100186
Name: GTP cyclohydrolase I deficiency with hyperphenylalaninemia
Ontology or CV name: Disease association

Parents

is_a hyperphenylalaninemia due to tetrahydrobiopterin deficiency
is_a GTP cyclohydrolase I deficiency

Annotation

Disease association

MONDO:0100186 - GTP cyclohydrolase I deficiency with hyperphenylalaninemia

References:

PB_REF:0000006

Genes:

fol2 (SPAC17A5.13)