Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS
Synonyms

CMT1E
ID

http://purl.bioontology.org/ontology/OMIM/118300
altLabel

CMT1E

CHARCOT-MARIE-TOOTH NEUROPATHY AND DEAFNESS, AUTOSOMAL DOMINANT

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E
cui

C3495591
Gene Locus

17p11.2
Gene Symbol

CMT1E

CIDP

PMP22

CMT1A

DSS
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU026889

http://purl.bioontology.org/ontology/OMIM/MTHU002724

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

http://purl.bioontology.org/ontology/OMIM/MTHU026890

http://purl.bioontology.org/ontology/OMIM/MTHU018992

http://purl.bioontology.org/ontology/OMIM/MTHU001056

http://purl.bioontology.org/ontology/OMIM/MTHU001005

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU036554

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU004251

http://purl.bioontology.org/ontology/OMIM/MTHU004700

http://purl.bioontology.org/ontology/OMIM/MTHU013278

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

http://purl.bioontology.org/ontology/OMIM/MTHU001004

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

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

Phenotype description, molecular basis known.
notation

118300
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C538078 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/MESH/C566136 Medical Subject Headings CUI