About: Werdnig–Hoffmann disease

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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) amyotrophie spinale infantile sévère, ou amyotrophie spinale de type 1, est une pathologie d'origine génétique (autosomale récessive). (fr) forma di atrofia muscolare spinale più grave, caratterizzata dalla perdita dei motoneuroni delle corna anteriori del midollo spinale e dei nuclei del tronco encefalico (it)
exact match	wds:Q2362826-5EE85C50-0FAE-4657-BDF2-C64FBB51D580 wds:Q2362826-705B2353-BEC4-42F2-BCC5-321C836AFD54
exact match	http://purl.obolibrary.org/obo/DOID_13137 http://identifiers.org/doid/DOID:13137
health specialty	wds:Q2362826-C66199A0-4F23-4BBB-8094-C4861CE30F92
Mondo ID	wds:Q2362826-391E6A63-B059-489A-8FCC-E7AA32A47DDE
Disease Ontology ID	wds:Q2362826-A3EC6BC9-6A67-4480-9D91-2E9F5FB7AB76
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0009669
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:13137
health specialty	neurology
Mondo ID	MONDO_0009669
Disease Ontology ID	DOID:13137
rdfs:label	Werdnig–Hoffmann disease (en) Werdnig–Hoffmann disease (nl) Werdnig–Hoffmann disease (en-gb) Zespół Werdniga-Hoffmanna (pl) maladie de Werdnig-Hoffmann (fr) malattia di Werdnig-Hoffmann (it) ウエルドニッヒ・ホフマン症 (ja)
skos:prefLabel	Werdnig–Hoffmann disease (en) Werdnig–Hoffmann disease (nl) Werdnig–Hoffmann disease (en-gb) Zespół Werdniga-Hoffmanna (pl) maladie de Werdnig-Hoffmann (fr) malattia di Werdnig-Hoffmann (it) ウエルドニッヒ・ホフマン症 (ja)
name	Werdnig–Hoffmann disease (en) Werdnig–Hoffmann disease (nl) Werdnig–Hoffmann disease (en-gb) Zespół Werdniga-Hoffmanna (pl) maladie de Werdnig-Hoffmann (fr) malattia di Werdnig-Hoffmann (it) ウエルドニッヒ・ホフマン症 (ja)
instance of	wds:Q2362826-63FF04FB-21F9-4DBE-8439-847C6E848051 wds:Q2362826-7E3409A4-5018-4E6E-9386-1F9805A64B6C wds:Q2362826-a449ee3e-4f81-96fe-80e0-566d3ea9f2d6
instance of	class of disease rare disease neuromuscular disease
subclass of	wds:Q2362826-9C581BF8-FFF1-4168-B5EC-88528F0AEC4B
subclass of	survival motor neuron spinal muscular atrophy
UniProt disease ID	wds:Q2362826-344bfafa-4a8a-4650-3a04-2743f22f58a1
ICD-9-CM	wds:Q2362826-0394E55C-242C-4169-8086-2C44BA6322BB
genetic association	wds:Q2362826-43F018B8-CC9E-4B9C-B288-5253E87E301D
ICD-10-CM	wds:Q2362826-A462A15F-F0F9-42BB-BD28-A60CE500AEB0
PatientsLikeMe condition ID	wds:Q2362826-f26ffe26-468d-0d4c-577c-ae9c979cd4b4
GARD rare disease ID	wds:Q2362826-F44E5375-6C09-4906-A95E-BD28A57EF059
OMIM ID	wds:Q2362826-6065C49E-7AFA-4DD2-A22B-CA7233FD6EA6
UniProt disease ID	DI-01055
ICD-9-CM	335.0
genetic association	SMN1
ICD-10-CM	G12.0
PatientsLikeMe condition ID	spinal-muscular-atrophy-type-1
GARD rare disease ID	7883
OMIM ID	253300
named after	wds:q2362826-1BD3D883-FC86-4E58-94EC-535FC5434562 wds:q2362826-9AB92BF1-12A6-4124-8D43-F593D6C3BB1C
named after	Johann Hoffmann Guido Werdnig
skos:altLabel	HMN (Hereditary motor Neuropathy) Proximal type I (en) SMA1 (en) Spinal muscular atrophy 1 (en) Werdnig-Hoffman disease (en) Werdnig-Hoffmann disease (en) Werdnig–Hoffmann syndrome (en) Zespół Werdniga-Hoffmana (pl) hereditary motor neuropathy proximal type I (en) infantile muscular atrophy (en) progressive muscular atrophy of infancy (en) spinal muscular atrophy type 1 (en) syndrome de Werdnig-Hoffmann (fr)
NCI Thesaurus ID	wds:Q2362826-B4D20B03-0876-4CE6-A02A-15B8BB9826CF
Bibliothèque nationale de France ID	wds:Q2362826-6c71fa97-afc6-4b47-aa26-90bf90426585
UMLS CUI	wds:Q2362826-1CB2EF5B-9303-4006-B270-49BE01E116A6
on focus list of Wikimedia project	wds:Q2362826-5C4CB2A2-EC20-41B4-8257-342E3B36E2AF
BNCF Thesaurus ID	wds:Q2362826-ca6d5078-46a2-23a6-8097-eeb196a72bd1
Bibliothèque nationale de France ID	http://data.bnf.fr/ark:/12148/cb13514535n#about
BNCF Thesaurus ID	http://purl.org/bncf/tid/55551
NCI Thesaurus ID	C98670
Bibliothèque nationale de France ID	13514535n
UMLS CUI	C0043116
on focus list of Wikimedia project	WikiProject Medicine
BNCF Thesaurus ID	55551
is owl:sameAs of	Werdnig–Hoffmann disease
is about of	https://pl.wikipedia.org/wiki/Zesp%C3%B3%C5%82_Werdniga-Hoffmanna https://www.wikidata.org/wiki/Special:EntityData/Q2362826 https://ja.wikipedia.org/wiki/%E3%82%A6%E3%82%A8%E3%83%AB%E3%83%89%E3%83%8B%E3%83%83%E3%83%92%E3%83%BB%E3%83%9B%E3%83%95%E3%83%9E%E3%83%B3%E7%97%87 https://fr.wikipedia.org/wiki/Maladie_de_Werdnig-Hoffmann https://it.wikipedia.org/wiki/Malattia_di_Werdnig-Hoffmann
is main subject of	The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease The use of mechanical ventilation is appropriate in children with genetically proven spinal muscular atrophy type 1: the motion for. The use of invasive ventilation is appropriate in children with genetically proven spinal muscular atrophy type 1: the motion against The changing natural history of spinal muscular atrophy type 1 Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease

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