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Summary Literature (0)
DOID:0111168 - sepiapterin reductase deficiency

Disease Ontology Definition:A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency.

Synonyms: DRD due to SRD, SPR deficiency, SRD, dopa-responsive dystonia due to sepiapterin reductase deficiency,

Xenbase Genes : spr

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012994 - dopa-responsive dystonia due to sepiapterin reductase deficiency


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), autosomal recessive disease (is_a), dystonia (is_a)