Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1

Synonyms

HMSN, X-LINKED

ID

http://purl.bioontology.org/ontology/OMIM/302800

altLabel

HMSN, X-LINKED

CMTX1

CMT2, FORMERLY

CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED

CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED, 1

HEREDITARY MOTOR AND SENSORY NEUROPATHY, X-LINKED

CMTX

cui

C0393808

Gene Locus

Xq13.1

Gene Symbol

CX32

CMTX1

GJB1

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU021643

http://purl.bioontology.org/ontology/OMIM/MTHU038265

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

http://purl.bioontology.org/ontology/OMIM/MTHU000283

http://purl.bioontology.org/ontology/OMIM/MTHU036443

http://purl.bioontology.org/ontology/OMIM/MTHU004325

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

http://purl.bioontology.org/ontology/OMIM/MTHU038263

http://purl.bioontology.org/ontology/OMIM/MTHU042354

http://purl.bioontology.org/ontology/OMIM/MTHU004053

http://purl.bioontology.org/ontology/OMIM/MTHU042348

http://purl.bioontology.org/ontology/OMIM/MTHU025490

http://purl.bioontology.org/ontology/OMIM/MTHU042346

http://purl.bioontology.org/ontology/OMIM/MTHU001001

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

http://purl.bioontology.org/ontology/OMIM/MTHU042352

http://purl.bioontology.org/ontology/OMIM/MTHU042350

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

http://purl.bioontology.org/ontology/OMIM/MTHU036438

http://purl.bioontology.org/ontology/OMIM/MTHU008001

http://purl.bioontology.org/ontology/OMIM/MTHU002847

http://purl.bioontology.org/ontology/OMIM/MTHU002830

http://purl.bioontology.org/ontology/OMIM/MTHU008008

http://purl.bioontology.org/ontology/OMIM/MTHU008015

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

http://purl.bioontology.org/ontology/OMIM/MTHU001811

http://purl.bioontology.org/ontology/OMIM/MTHU008011

http://purl.bioontology.org/ontology/OMIM/MTHU001665

http://purl.bioontology.org/ontology/OMIM/MTHU001833

http://purl.bioontology.org/ontology/OMIM/MTHU001112

http://purl.bioontology.org/ontology/OMIM/MTHU038262

http://purl.bioontology.org/ontology/OMIM/MTHU038266

http://purl.bioontology.org/ontology/OMIM/MTHU042321

http://purl.bioontology.org/ontology/OMIM/MTHU005587

http://purl.bioontology.org/ontology/OMIM/MTHU042349

http://purl.bioontology.org/ontology/OMIM/MTHU042347

http://purl.bioontology.org/ontology/OMIM/MTHU001126

http://purl.bioontology.org/ontology/OMIM/MTHU001772

http://purl.bioontology.org/ontology/OMIM/MTHU028861

http://purl.bioontology.org/ontology/OMIM/MTHU042351

http://purl.bioontology.org/ontology/OMIM/MTHU001138

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

http://purl.bioontology.org/ontology/OMIM/MTHU042355

http://purl.bioontology.org/ontology/OMIM/MTHU042353

http://purl.bioontology.org/ontology/OMIM/MTHU008006

http://purl.bioontology.org/ontology/OMIM/MTHU000874

http://purl.bioontology.org/ontology/OMIM/MTHU008009

http://purl.bioontology.org/ontology/OMIM/MTHU008007

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

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

302800

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1

tui

T047

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0110209 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/C535919 Medical Subject Headings CUI