Roussy–Lévy syndrome ^ingelesa (Q3281293)

Wikidatatik

Nabigaziora joan Bilaketara joan

human disease ^ingelesa

Hizkuntza	Etiketa	Deskribapena	Goitizenak
euskara	Ez da etiketarik zehaztu	Ez da deskribapenik zehaztu
ingelesa	Roussy–Lévy syndrome	human disease	Hereditary areflexic dystasia, Roussy-LC)vy type Hereditary areflexic dystasia, Roussy-Lévy type ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA Roussy-Levy Syndrome Roussy-Lévy syndrome

Adierazpenak

gaixotasun arraro

0 erreferentzia

class of disease ^ingelesa

0 erreferentzia

honen azpiklasea

autosomal dominant hereditary demyelinating motor and sensory neuropathy ^ingelesa

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Monarch Disease Ontology release 2018-06-29 ^ingelesa

28 uztaila 2018

Mondo ID ^ingelesa

honen izena darama

Gustave Roussy ^ingelesa

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Gabrielle Lévy ^ingelesa

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mediku espezialitate

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genetic association ^ingelesa

MPZ ^ingelesa

3 erreferentzia

UniProt ^ingelesa

UniProt protein ID ^ingelesa

13 abuztua 2019

The Roussy-Lévy family: from the original description to the gene ^ingelesa

Open Targets Platform ^ingelesa

24 abuztua 2023

URL erreferentzia

https://platform.opentargets.org/evidence/ENSG00000158887/Orphanet_3115

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

PMP22 ^ingelesa

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Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2. ^ingelesa

MME ^ingelesa

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Open Targets Platform ^ingelesa

24 abuztua 2023

URL erreferentzia

https://platform.opentargets.org/evidence/ENSG00000196549/EFO_0009162

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

334.3

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Monarch Disease Ontology release 2018-06-29 ^ingelesa

28 uztaila 2018

Mondo ID ^ingelesa

baliokidetasun zehatza

http://www.orpha.net/ORDO/Orphanet_3115

0 erreferentzia

Identifikatzaileak

KEGG-ren identifikatzailea

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Experimental Factor Ontology ID ^ingelesa

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based on heuristic ^ingelesa

inferred by common ICD-10 mappings on Wikidata and on source ^ingelesa

GARD rare disease ID ^ingelesa

0 erreferentzia

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Ingelesezko Wikipedia

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Monarch Disease Ontology release 2018-06-29 ^ingelesa

28 uztaila 2018

Mondo ID ^ingelesa

Medical Dictionary for Regulatory Activities ID ^ingelesa

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URL erreferentzia

https://cdn.who.int/media/docs/default-source/classification/icd/icd-10/icd-10-to-meddra-map---june-2023---codes-mapping.xlsx

based on heuristic ^ingelesa

inferred by common ICD-10 mappings on Wikidata and on source ^ingelesa

Microsoft Academic identifikatzailea

0 erreferentzia

Mondo ID ^ingelesa

0 erreferentzia

OMIM ID ^ingelesa

mapping relation type ^ingelesa

exact match ^ingelesa

2 erreferentzia

Ingelesezko Wikipedia

Monarch Disease Ontology release 2018-06-29 ^ingelesa

28 uztaila 2018

Mondo ID ^ingelesa

Orphanet ID ^ingelesa

mapping relation type ^ingelesa

exact match ^ingelesa

Erreferentzia bat

Monarch Disease Ontology release 2018-06-29 ^ingelesa

28 uztaila 2018

Mondo ID ^ingelesa

mapping relation type ^ingelesa

exact match ^ingelesa

Erreferentzia bat

Monarch Disease Ontology release 2018-06-29 ^ingelesa

28 uztaila 2018

Mondo ID ^ingelesa

UniProt disease ID ^ingelesa

0 erreferentzia

Sitelinks

Wikipedia(4 sarrera)

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Wiktionary(0 sarrera)

Beste guneak(0 sarrera)

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