(Q3281293)

English

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

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Statements

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autosomal dominant hereditary demyelinating motor and sensory neuropathy

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

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3 references

13 August 2019

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

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

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

based on heuristic

inferred from an Open Targets association score over 0.7

PMP22

1 reference

stated in

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

MME

1 reference

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

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

based on heuristic

inferred from an Open Targets association score over 0.7

ICD-9-CM

334.3

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

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

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Identifiers

KEGG ID

H01155

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Experimental Factor Ontology ID

0009162

1 reference

based on heuristic

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

0 references

1 reference

imported from Wikimedia project

1 reference

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0008392

Medical Dictionary for Regulatory Activities ID

10077306

1 reference

reference URL

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

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

Microsoft Academic ID

0 references

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mapping relation type

exact match

2 references

imported from Wikimedia project

English Wikipedia

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

(Q3281293)

Roussy–Lévy syndrome

Statements

Identifiers

Sitelinks

Wikipedia(4 entries)

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