About: sepiapterin reductase deficiency

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal dominant disease autosomal recessive disease dystonia nodeID://b50944349 nodeID://b50944350
label	sepiapterin reductase deficiency
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111168
database_cross_reference	GARD:10365 MESH:C562657 OMIM:612716 ORDO:70594 SNOMEDCT_US_2021_09_01:45116002 UMLS_CUI:C0268468
has_exact_synonym	DRD due to SRD (en) dopa-responsive dystonia due to sepiapterin reductase deficiency (en) SPR deficiency (en) SRD (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50944351

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