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's subclass of is recorded as torsion dystonia^[5].
• sepiapterin reductase deficiency's subclass of is recorded as inherited metabolic disorder^[6].
• sepiapterin reductase deficiency's subclass of is recorded as dystonia^[7].
• sepiapterin reductase deficiency's subclass of is recorded as disorder of pterin metabolism^[8].
• sepiapterin reductase deficiency's subclass of is recorded as dopamine-responsive dystonia^[9].
• sepiapterin reductase deficiency's subclass of is recorded as genetic disease^[10].
• sepiapterin reductase deficiency's subclass of is recorded as autosomal dominant disease^[11].
• sepiapterin reductase deficiency's subclass of is recorded as autosomal recessive disease^[12].
• sepiapterin reductase deficiency's MeSH descriptor ID is recorded as C562657^[13].
• sepiapterin reductase deficiency's OMIM ID is recorded as 612716^[14].
• sepiapterin reductase deficiency's Freebase ID is recorded as /m/0ndws3b^[15].
• sepiapterin reductase deficiency's Disease Ontology ID is recorded as DOID:0111168^[16].
• sepiapterin reductase deficiency's external data available at URL is recorded as http://www.nanbyou.or.jp/entry/5437^[17].
• sepiapterin reductase deficiency's Orphanet ID is recorded as 70594^[18].
• sepiapterin reductase deficiency's ICD-9-CM is recorded as 277.89^[19].
• sepiapterin reductase deficiency's genetic association is recorded as SPR^[20].
• sepiapterin reductase deficiency's BabelNet ID is recorded as 13998904n^[21].
• sepiapterin reductase deficiency's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111168^[22].
• sepiapterin reductase deficiency's exact match is recorded as http://identifiers.org/doid/DOID:0111168^[23].
• sepiapterin reductase deficiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_70594^[24].
• sepiapterin reductase deficiency's UMLS CUI is recorded as C0268468^[25].
• sepiapterin reductase deficiency's ICD-10-CM is recorded as G24.1^[26].