Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B

Synonyms

HMSN I

ID

http://purl.bioontology.org/ontology/OMIM/118200

altLabel

HMSN I

CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1B

HMSN1

CMT1B

CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1B

CHARCOT-MARIE-TOOTH DISEASE, SLOW NERVE CONDUCTION TYPE, LINKED TO DUFFY

HMSN1B

HEREDITARY MOTOR AND SENSORY NEUROPATHY IB

PERONEAL MUSCULAR ATROPHY

HMSN IB

HEREDITARY MOTOR AND SENSORY NEUROPATHY I

cui

C0007959

C0270912

C0751036

Gene Locus

1q22

Gene Symbol

CMTDID

CHM

MPZ

CMT1B

DSS

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU026880

http://purl.bioontology.org/ontology/OMIM/MTHU018996

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU005049

http://purl.bioontology.org/ontology/OMIM/MTHU026882

http://purl.bioontology.org/ontology/OMIM/MTHU004693

http://purl.bioontology.org/ontology/OMIM/MTHU001831

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU036552

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU026878

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU000759

http://purl.bioontology.org/ontology/OMIM/MTHU000903

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

http://purl.bioontology.org/ontology/OMIM/MTHU018997

http://purl.bioontology.org/ontology/OMIM/MTHU026881

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

http://purl.bioontology.org/ontology/OMIM/MTHU002880

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

http://purl.bioontology.org/ontology/OMIM/MTHU013936

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU036553

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

http://purl.bioontology.org/ontology/OMIM/MTHU026879

MIMTYPEMEANING

Phenotype description, molecular basis known.

Moved from

162375

notation

118200

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0007959 MedlinePlus Health Topics CUI
http://purl.bioontology.org/ontology/MESH/D002607 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D002607 Medical Subject Headings CUI
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