Regulation of Gene Expression Ontolology

Last uploaded: December 16, 2015

Preferred Name	Hyperphenylalaninemia, BH4-deficient, C
Synonyms	HPABH4C
Definitions	(HPABH4C) - Rare autosomal recessive disorder characterized by hyperphenylalaninemia and severe neurologic symptoms (malignant hyperphenylalaninemia) including axial hypotonia and truncal hypertonia, abnormal thermogenesis, and microcephaly. These signs are attributable to depletion of the neurotransmitters dopamine and serotonin, whose syntheses are controlled by tryptophan and tyrosine hydroxylases that use BH-4 as cofactor. Patients do not respond to phenylalanine-restricted diet. HPABH4C is lethal if untreated.
ID	http://identifiers.org/omim/261630
altLabel	HPABH4C
definition	(HPABH4C) - Rare autosomal recessive disorder characterized by hyperphenylalaninemia and severe neurologic symptoms (malignant hyperphenylalaninemia) including axial hypotonia and truncal hypertonia, abnormal thermogenesis, and microcephaly. These signs are attributable to depletion of the neurotransmitters dopamine and serotonin, whose syntheses are controlled by tryptophan and tyrosine hydroxylases that use BH-4 as cofactor. Patients do not respond to phenylalanine-restricted diet. HPABH4C is lethal if untreated.
id	OMIM:261630
notation	OMIM:261630
prefLabel	Hyperphenylalaninemia, BH4-deficient, C
subClassOf	http://purl.obolibrary.org/obo/OGMS_0000031

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://identifiers.org/omim/261630	GEXO	SAME_URI
http://identifiers.org/omim/261630	RETO	SAME_URI
http://identifiers.org/omim/261630	GEXO	LOOM
http://identifiers.org/omim/261630	RETO	LOOM
http://purl.bioontology.org/ontology/OMIM/261630	OMIM	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C138173	NCIT	LOOM
http://purl.obolibrary.org/obo/OMIM_261630	CCO	LOOM
http://purl.obolibrary.org/obo/NCIT_C138173	BERO	LOOM