Search Ontology:
Human Disease

sepiapterin reductase deficiency

Term ID
DOID:0111168
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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