. "UMLS_CUI:C0268468"^^ . "DOID:0111168"^^ . _:vb50944349 . _:vb50944349 . "sepiapterin reductase deficiency"^^ . . "SNOMEDCT_US_2021_09_01:45116002"^^ . _:vb50944349 . _:vb50944350 . "GARD:10365"^^ . . "DRD due to SRD"@en . . _:vb50944350 . _:vb50944350 . _:vb50944349 . "ORDO:70594"^^ . _:vb50944350 . "disease_ontology"^^ . "MESH:C562657"^^ . "SRD"@en . _:vb50944349 . "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."^^ . . "SPR deficiency"@en . "dopa-responsive dystonia due to sepiapterin reductase deficiency"@en . "OMIM:612716"^^ . _:vb50944350 .