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| Term | sepiapterin reductase deficiency | ID (Ontology) | DOID:0111168 (Human Disease) |
| 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. | ||
| Also Known As | "dopa-responsive dystonia due to sepiapterin reductase deficiency" ; "DRD due to SRD" ; "SPR deficiency" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease___ |__autosomal recessive disease__| movement disease | |__dystonia_____________________| sepiapterin reductase deficiency 2 rec. |
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| Is a |
autosomal dominant disease autosomal recessive disease dystonia |
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External Crossreferences & Linkouts
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GARD:10365 MESH:C562657 MIM:612716 ORDO:70594 SNOMEDCT_US_2023_03_01:1187545003 UMLS_CUI:C0268468 |
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