OBO ID: DOID:0111168
Term Name: sepiapterin reductase deficiency Search Ontology:
Synonyms:
  • dopa-responsive dystonia due to sepiapterin reductase deficiency
  • DRD due to SRD
  • SPR deficiency
  • SRD
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. (4)
References:
Ontology: Human Disease   (DOID:0111168)
OTHER sepiapterin reductase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SPR Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None