About: GTP cyclohydrolase I deficiency

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About: GTP cyclohydrolase I deficiency Goto Sponge NotDistinct Permalink

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

Attributes	Values
rdf:type	Item
exact match	wds:Q54889350-5EFCC09A-B96A-4C2E-9F8B-7DD29E1859AD wds:Q54889350-BB95923B-57BF-4D57-A9E8-18EE1521B627
exact match	http://www.orpha.net/ORDO/Orphanet_2102 http://www.orpha.net/ORDO/Orphanet_238583
Mondo ID	wds:Q54889350-72440ED7-EC13-46F9-96FC-DA52783D4866
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0009314
Mondo ID	MONDO_0009314
rdfs:label	GTP cyclohydrolase I deficiency (en)
skos:prefLabel	GTP cyclohydrolase I deficiency (en)
name	GTP cyclohydrolase I deficiency (en)
instance of	wds:Q54889350-66BC83CC-81CE-4159-A329-6FE43AFF9BD2 wds:Q54889350-8292C33B-82BE-404B-BBBD-1D88D3B1AA67
instance of	class of disease rare disease
subclass of	wds:Q54889350-3da28aa1-420e-e6a1-3168-d8736ef035e1 wds:Q54889350-65f9216c-4208-5a87-ddb2-92df79d821f9
subclass of	hyperphenylalaninemia enzymopathy
UniProt disease ID	wds:Q54889350-2562e0b0-4f8d-4ded-369b-ee5b845a8c38
Orphanet ID	wds:Q54889350-A171FF55-3414-4425-82C7-00091CDD4D81
genetic association	wds:Q54889350-43ED966F-4D30-4840-BC3E-BD5C64539E43
ICD-10-CM	wds:Q54889350-3BF10C83-FE18-4DBD-BB19-2C3D5784B4C1
GARD rare disease ID	wds:Q54889350-BA5B1E83-65EF-4FF9-8DBB-2B506FD51FD1
OMIM ID	wds:Q54889350-1bae1088-4d12-96f4-b0bc-c30f84a8bd59 wds:Q54889350-689553E5-4417-414D-B0EF-1C9AA1B2084E
UniProt disease ID	DI-00538
Orphanet ID	2102
genetic association	GCH1
ICD-10-CM	E70.1
GARD rare disease ID	2844
OMIM ID	233910
skos:altLabel	Dystonia, Dopa-Responsive, With or Without Hyperphenylalaninemia, Autosomal Recessive (en) BH4-deficient hyperphenylalaninemia B (en) GTPCH deficiency (en) Gtp Cyclohydrolase 1 Deficiency (en) HPABH4B (en) HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B (en) Hyperphenylalaninemia, Bh4-Deficient, type B (en) hyperphenylalaninemia, BH4-deficient, B (en) Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due to Gtp Cyclohydrolase 1 Deficiency (en) Hyperphenylalaninemia due to GTP cyclohydrolase deficiency (en)
NCI Thesaurus ID	wds:Q54889350-D7ADC6EE-039B-4D59-AB46-CCC0D52E0F28 wds:Q54889350-b42bd326-4cde-09fe-8309-4ce9d03e9f08
UMLS CUI	wds:Q54889350-6D1AB92F-9BE4-48ED-8A0A-BED4DC7C8425 wds:Q54889350-F52FCE0A-038D-46C9-BFF4-59DD92808A4B
NCI Thesaurus ID	C141442
UMLS CUI	C0268467 C2673535
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q54889350
is genetic association of	GCH1
is genetic association of	wds:Q14916168-3C455011-308A-4FD0-A2B5-CF03A8733157
is established from medical condition of	DHMCi002-A DHMCi002-B
is established from medical condition of	wds:Q93527322-8812EBD1-393A-4B0C-8F65-C1039EACE78D wds:Q54882187-93D4F2FF-BC65-4A55-A18D-B35304B1163D

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