About: sepiapterin reductase deficiency

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An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

human disease

Attributes	Values
rdf:type	Item
description	human disease (en) մարդու հիվանդություն (hy) хвороба людини (uk)
exact match	wds:Q17156923-555E1A03-BC32-449E-8BFB-5829E60CD196 wds:Q17156923-D7EEDD2E-8D33-4B07-AF00-9949C3C0A089 wds:Q17156923-D95FB313-0D84-4087-9371-9DC3BC3C792B
exact match	http://purl.obolibrary.org/obo/DOID_0111168 http://identifiers.org/doid/DOID:0111168 http://www.orpha.net/ORDO/Orphanet_70594
Mondo ID	wds:Q17156923-587479C2-AFA5-4F04-AEB6-464CA793B26B
Disease Ontology ID	wds:Q17156923-A42A4A40-E797-4809-AF25-D6B91D0B5811
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0012994
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0111168
Mondo ID	MONDO_0012994
Disease Ontology ID	DOID:0111168
rdfs:label	dystonie dopa-sensible par déficit en sépiaptérine réductase (fr) sepiapterin reductase deficiency (en) Недостаточность сепиаптеринредуктазы (ru)
skos:prefLabel	dystonie dopa-sensible par déficit en sépiaptérine réductase (fr) sepiapterin reductase deficiency (en) Недостаточность сепиаптеринредуктазы (ru)
name	dystonie dopa-sensible par déficit en sépiaptérine réductase (fr) sepiapterin reductase deficiency (en) Недостаточность сепиаптеринредуктазы (ru)
Freebase ID	wds:Q17156923-23194858-C54F-4B2D-BFB8-66A119D303D6
Freebase ID	/m/0ndws3b
instance of	wds:Q17156923-21C7CA04-AF02-494A-A59D-D192B4ED808E wds:Q17156923-A80BBE9B-3337-4381-9C09-D0B575DFF635 wds:Q17156923-DFFD4A24-8634-4CDC-8881-343E97C214F1
instance of	class of disease rare disease designated intractable/rare disease
subclass of	wds:Q17156923-03821484-A559-488E-9510-136FF7522DE2 wds:Q17156923-2AAAB797-EE10-4C65-B552-25957BF34575 wds:Q17156923-2F5B4327-7829-4029-8EDF-AA51FFE574BD wds:Q17156923-783b11b6-4a4e-5766-d8bc-a50de524993e wds:Q17156923-7E25721F-DE81-46EE-9441-F41718628F54 wds:Q17156923-7b66c2cc-45f2-d739-daa3-eee478bb4488 wds:Q17156923-918A73DB-C4B2-4388-A48E-DBCD9DFF2CF8 wds:Q17156923-C539BA10-3493-4D61-A542-5C0BEB5B838C
subclass of	genetic disease dopamine-responsive dystonia torsion dystonia dystonia inherited metabolic disorder autosomal recessive disease autosomal dominant disease disorder of pterin metabolism
UniProt disease ID	wds:Q17156923-cc270607-4239-fb6a-c05a-a5c880e02b8f
Orphanet ID	wds:Q17156923-7584A5DE-EA30-4465-A7AB-74D9C6E2111B
ICD-9-CM	wds:Q17156923-B14FCF51-D82B-46CD-A086-4F4A80FA0EC4
genetic association	wds:Q17156923-E515FAE0-92DB-4C20-B3A6-E7B6E57AB677
ICD-10-CM	wds:Q17156923-7DD516AB-100A-4A3A-92E3-8F7D234F9ADD
GARD rare disease ID	wds:Q17156923-2678D0DE-E71C-45E8-80F9-1DFC9E52000C
OMIM ID	wds:Q17156923-779D9383-52B1-4F53-A92C-0453F15ECB2D
Genetics Home Reference Conditions ID	wds:Q17156923-04751EEB-97AC-4E97-8A7A-EEFF762EC672
UniProt disease ID	DI-00411
Orphanet ID	70594
ICD-9-CM	277.89
genetic association	SPR
ICD-10-CM	G24.1
GARD rare disease ID	10365
OMIM ID	612716
Genetics Home Reference Conditions ID	sepiapterin-reductase-deficiency
skos:altLabel	SRD (en) Autosomal recessive sepiapterin reductase-deficient DRD (en) DRD due to SRD (en) DYT-SPR (en) dopa-responsive dystonia due to sepiapterin reductase deficiency (en) SPR deficiency (en) DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY (en)
external data available at URL	wds:Q17156923-D5B26D7A-FD61-41BB-B41A-CFBB40350492
BabelNet ID	wds:Q17156923-496A644A-9361-4A84-BE8B-A744CB3583CD
UMLS CUI	wds:Q17156923-4BCD81E1-6360-4955-AB57-E4BC1993F858
MeSH descriptor ID	wds:Q17156923-C2002E4D-C059-4494-9BAA-1DC3D795B45E wds:Q17156923-D4EB374F-EE9F-4D06-AF31-253E165989D0
on focus list of Wikimedia project	wds:Q17156923-57C7AA43-2CE0-4A97-BF1F-151F0342C983
Microsoft Academic ID	wds:Q17156923-B215DD4A-3027-45EC-AC54-46ED260D5DFF
BabelNet ID	http://babelnet.org/rdf/s13998904n
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C562657
Microsoft Academic ID	https://makg.org/entity/2780379342
external data available at URL	http://www.nanbyou.or.jp/entry/5437
BabelNet ID	13998904n
UMLS CUI	C0268468
MeSH descriptor ID	C562657
on focus list of Wikimedia project	WikiProject Medicine
Microsoft Academic ID	2780379342
is owl:sameAs of	sepiapterin reductase deficiency
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q17156923 Sepiapterin reductase deficiency https://ru.wikipedia.org/wiki/%D0%9D%D0%B5%D0%B4%D0%BE%D1%81%D1%82%D0%B0%D1%82%D0%BE%D1%87%D0%BD%D0%BE%D1%81%D1%82%D1%8C_%D1%81%D0%B5%D0%BF%D0%B8%D0%B0%D0%BF%D1%82%D0%B5%D1%80%D0%B8%D0%BD%D1%80%D0%B5%D0%B4%D1%83%D0%BA%D1%82%D0%B0%D0%B7%D1%8B
is main subject of	Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. A murine model for human sepiapterin-reductase deficiency Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia. Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency.

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