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sepiapterin reductase deficiency (DOID:0111168)
Alliance: disease page
Synonyms: dopa-responsive dystonia due to sepiapterin reductase deficiency; DRD due to SRD; SPR deficiency; SRD
Alt IDs: OMIM:612716, MESH:C562657, ORDO:70594, UMLS_CUI:C0268468
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory