sepiapterin reductase deficiency
human disease
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sepiapterin reductase deficiency
Summary
sepiapterin reductase deficiency is a designated intractable/rare disease[1].
Key Facts
- sepiapterin reductase deficiency's instance of is recorded as designated intractable/rare disease[2].
- sepiapterin reductase deficiency's instance of is recorded as rare disease[3].
- sepiapterin reductase deficiency's instance of is recorded as class of disease[4].
- sepiapterin reductase deficiency is a type of torsion dystonia[5].
- sepiapterin reductase deficiency is a type of inherited metabolic disorder[6].
- sepiapterin reductase deficiency is a type of dystonia[7].
- sepiapterin reductase deficiency is a type of disorder of pterin metabolism[8].
- sepiapterin reductase deficiency is a type of dopamine-responsive dystonia[9].
- sepiapterin reductase deficiency is a type of genetic disease[10].
- sepiapterin reductase deficiency is a type of autosomal dominant disease[11].
- sepiapterin reductase deficiency is a type of autosomal recessive disease[12].
- sepiapterin reductase deficiency's external data available at URL is recorded as http://www.nanbyou.or.jp/entry/5437[13].
- sepiapterin reductase deficiency's ICD-9-CM is recorded as 277.89[14].
- sepiapterin reductase deficiency's genetic association is recorded as SPR[15].
- sepiapterin reductase deficiency's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111168[16].
- sepiapterin reductase deficiency's exact match is recorded as http://identifiers.org/doid/DOID:0111168[17].
- sepiapterin reductase deficiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_70594[18].
- sepiapterin reductase deficiency's on focus list of Wikimedia project is recorded as WikiProject Medicine[19].