About: Roussy–Lévy syndrome

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About: Roussy–Lévy syndrome Goto Sponge NotDistinct Permalink

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
owl:sameAs	Roussy–Lévy syndrome
description	human disease (en) Krankheit (de) malattia (it) մարդու հիվանդություն (hy) хвороба людини (uk)
exact match	wds:Q3281293-86980851-131B-464F-B85B-1210AAFD9997
exact match	http://www.orpha.net/ORDO/Orphanet_3115
Experimental Factor Ontology ID	wds:Q3281293-BD9B7376-C607-4799-BC86-E89109678266
health specialty	wds:Q3281293-A8EBD85F-6EAB-441A-9C05-A1705A78E84D
ICD-10	wds:Q3281293-591E82E8-7D9F-4FCF-83DC-9EE4A60B082E
Mondo ID	wds:Q3281293-355D5876-DCD8-4B1F-8136-788816127BC6
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0008392
Experimental Factor Ontology ID	0009162
health specialty	neurology
ICD-10	G60.0
Mondo ID	MONDO_0008392
rdfs:label	Roussy-Lévy-Syndrom (de) Roussy–Lévy syndrome (en) Síndrome de Roussy-Lévy (es) maladie de Roussy-Lévy (fr)
skos:prefLabel	Roussy-Lévy-Syndrom (de) Roussy–Lévy syndrome (en) Síndrome de Roussy-Lévy (es) maladie de Roussy-Lévy (fr)
name	Roussy-Lévy-Syndrom (de) Roussy–Lévy syndrome (en) Síndrome de Roussy-Lévy (es) maladie de Roussy-Lévy (fr)
instance of	wds:Q3281293-563A4DD0-05B3-4592-AF30-8E4CEB81A76D wds:Q3281293-605F42F7-0195-4407-A0A2-BCC4F0BA5373
instance of	class of disease rare disease
subclass of	wds:Q3281293-6913D96C-9AB4-4630-8332-8E603A92AC95
subclass of	autosomal dominant hereditary demyelinating motor and sensory neuropathy
KEGG ID	wds:Q3281293-0DC81344-C773-4CDD-89E7-C78DE776E541
KEGG ID	http://www.kegg.jp/entry/H01155
KEGG ID	H01155
UniProt disease ID	wds:Q3281293-2f34c54f-44b8-1bfa-9bb0-23c6a49b96de
Orphanet ID	wds:Q3281293-b93412d7-4b65-a05f-09b9-af6ebed53bd8
ICD-9-CM	wds:Q3281293-D99A1FE0-DD3D-4D26-8719-3C3188D899CA
genetic association	wds:Q3281293-2B8F661A-C263-4DDF-B769-9448ED3EE1D3 wds:Q3281293-9F1B87A7-7590-45FA-B00D-7E279B06F092 wds:Q3281293-C90692D1-953C-4E9B-BE25-846B01C1A05F
ICD-10-CM	wds:Q3281293-FE5A8752-07CF-4E0D-A846-884BCE957F14
GARD rare disease ID	wds:Q3281293-9728A7BF-4EFC-4418-A3B9-ADA91A0B8F86
OMIM ID	wds:Q3281293-22EB1122-EC6F-4F9C-B2C3-EC31713F4A2F
UniProt disease ID	DI-02275
Orphanet ID	3115
ICD-9-CM	334.3
genetic association	MPZ PMP22 MME
ICD-10-CM	G60.0
GARD rare disease ID	4741
OMIM ID	180800
named after	wds:Q3281293-159fe37d-4916-b32f-0e60-483241504ca0 wds:Q3281293-17003ea3-44e9-2956-09e4-7ea48571dda4
named after	Gustave Roussy Gabrielle Lévy
Medical Dictionary...ory Activities ID	wds:Q3281293-2AF43E4E-B532-45E9-B7FF-4C45E644EC4A
Medical Dictionary...ory Activities ID	http://purl.bioontology.org/ontology/MDRFRE/10077306
Medical Dictionary...ory Activities ID	10077306
skos:altLabel	Roussy-Lévy syndrome (en) Hereditary areflexic dystasia, Roussy-LC)vy type (en) Hereditary areflexic dystasia, Roussy-Lévy type (en) Maladie De Roussy-Lévy (fr) Maladie de Roussy-Levy (fr) Maladie de roussy-lévy (fr) ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (en) Roussy-Levy Syndrome (en)
UMLS CUI	wds:Q3281293-D99EB00E-73F2-4C0E-8AF0-6B5618029016
Microsoft Academic ID	wds:Q3281293-017C2F85-EF87-4475-BE2A-E0842C07AB2D
Microsoft Academic ID	https://makg.org/entity/2778981357
UMLS CUI	C0205713
Microsoft Academic ID	2778981357
is owl:sameAs of	Roussy–Lévy syndrome
is about of	Roussy–Lévy syndrome https://www.wikidata.org/wiki/Special:EntityData/Q3281293 Roussy–Lévy syndrome https://de.wikipedia.org/wiki/Roussy-L%C3%A9vy-Syndrom https://fr.wikipedia.org/wiki/Maladie_de_Roussy-L%C3%A9vy https://es.wikipedia.org/wiki/S%C3%ADndrome_de_Roussy-L%C3%A9vy
is main subject of	Quantitation of Meissner's corpuscles in hereditary neurologic disorders: Charcot-Marie-Tooth disease, Roussy-Levy syndrome, Dejerine-Sottas disease, hereditary sensory neuropathy, spinocerebellar degenerations, and hereditary spastic paraplegia Roussy-Lévy syndrome: report of a kindred and discussion of the nosology Roussy-Levy syndrome with diabetes mellitus Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2. Roussy-Levy syndrome with functional impairment and anomalies of gastro-intestinal tract An interesting case of Roussy-Levy syndrome inherited as autosomal dominant with diabetes mellitus The Roussy-Lévy syndrome A kinship with the Roussy-Levy syndrome [Roussy-Lévy syndrome showing onion bulb formation: report of three cases in a family] Generalized osteosclerosis and Roussy-Lévy syndrome in a family A kinship of the Roussy-Levy syndrome: a clinical and electrophysiological study Results of dermatoglyphic studies in the Roussy-Lévy syndrome Neuropathic Tremor in Chronic Inflammatory Demyelinating Polyneuropathy: The Acquired Equivalent of the Roussy-Levy Syndrome A case of the Roussy-Levy syndrome family [Autosomal-dominant motor-sensory neuropathy type I: intrafamilial polymorphism in the Roussy-Lévy syndrome] [Progressive ataxia and distal muscular atrophy--differential diagnostic considerations on Roussy-Lévy syndrome]

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