Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA

Synonyms

ROUSSY-LEVY SYNDROME

ID

http://purl.bioontology.org/ontology/OMIM/180800

altLabel

ROUSSY-LEVY SYNDROME

cui

C0205713

Gene Locus

17p11.2

Gene Symbol

CMT1E

CIDP

PMP22

CMT1A

DSS

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU015774

http://purl.bioontology.org/ontology/OMIM/MTHU000902

http://purl.bioontology.org/ontology/OMIM/MTHU002851

http://purl.bioontology.org/ontology/OMIM/MTHU027442

http://purl.bioontology.org/ontology/OMIM/MTHU000357

http://purl.bioontology.org/ontology/OMIM/MTHU004414

http://purl.bioontology.org/ontology/OMIM/MTHU000379

http://purl.bioontology.org/ontology/OMIM/MTHU027444

http://purl.bioontology.org/ontology/OMIM/MTHU002839

http://purl.bioontology.org/ontology/OMIM/MTHU000336

http://purl.bioontology.org/ontology/OMIM/MTHU000328

http://purl.bioontology.org/ontology/OMIM/MTHU000326

http://purl.bioontology.org/ontology/OMIM/MTHU002832

http://purl.bioontology.org/ontology/OMIM/MTHU001017

http://purl.bioontology.org/ontology/OMIM/MTHU015777

http://purl.bioontology.org/ontology/OMIM/MTHU000909

http://purl.bioontology.org/ontology/OMIM/MTHU001944

http://purl.bioontology.org/ontology/OMIM/MTHU015775

http://purl.bioontology.org/ontology/OMIM/MTHU015773

http://purl.bioontology.org/ontology/OMIM/MTHU006146

http://purl.bioontology.org/ontology/OMIM/MTHU027443

http://purl.bioontology.org/ontology/OMIM/MTHU036555

http://purl.bioontology.org/ontology/OMIM/MTHU000325

http://purl.bioontology.org/ontology/OMIM/MTHU000335

http://purl.bioontology.org/ontology/OMIM/MTHU000329

http://purl.bioontology.org/ontology/OMIM/MTHU015778

http://purl.bioontology.org/ontology/OMIM/MTHU015776

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

180800

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D002607 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/G60.0 International Classification of Diseases, Version 10 - Clinical Modification CUI