| Metadata | |
|---|---|
| ID | DOID:0111168 |
| Name | sepiapterin reductase deficiency |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/15241655, https://ghr.nlm.nih.gov/condition/sepiapterin-reductase-deficiency, https://www.ncbi.nlm.nih.gov/pubmed/22522443, https://www.ncbi.nlm.nih.gov/pubmed/11443547 |
| Xrefs |
SNOMEDCT_US_2023_03_01:1187545003 |
| Subsets |
DO_rare_slim |
| Synonyms |
dopa-responsive dystonia due to sepiapterin reductase deficiency [EXACT] DRD due to SRD [EXACT] SPR deficiency [EXACT] SRD [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a dystonia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance |