WormBase Tree Display for DO_term: DOID:0090106
expand all nodes | collapse all nodes | view schema
DOID:0090106 | Name | BH4-deficient hyperphenylalaninemia A | |||
---|---|---|---|---|---|
Status | Valid | ||||
Definition | A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1. | ||||
Synonym | Exact (5) | ||||
Parent | Is_a | DOID:0050737 | |||
DOID:0081132 | |||||
DB_info | Database | OMIM | disease | 261640 | |
Attribute_of | Gene_by_orthology | WBGene00015010 |