Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J
Synonyms

CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2J
ID

http://purl.bioontology.org/ontology/OMIM/607736
altLabel

CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2J

CHARCOT-MARIE-TOOTH DISEASE, TYPE 2, WITH HEARING LOSS AND PUPILLARY ABNORMALITIES

CMT2J
cui

C1843153
Gene Locus

1q22
Gene Symbol

CMTDID

CHM

MPZ

CMT1B

DSS
Has manifestation

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU029688

http://purl.bioontology.org/ontology/OMIM/MTHU002825

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

http://purl.bioontology.org/ontology/OMIM/MTHU002829

http://purl.bioontology.org/ontology/OMIM/MTHU002820

http://purl.bioontology.org/ontology/OMIM/MTHU002823

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

http://purl.bioontology.org/ontology/OMIM/MTHU042869

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU002824

http://purl.bioontology.org/ontology/OMIM/MTHU002822

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

http://purl.bioontology.org/ontology/OMIM/MTHU002826

http://purl.bioontology.org/ontology/OMIM/MTHU001014

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

http://purl.bioontology.org/ontology/OMIM/MTHU002821

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU002831
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

607736
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J
tui

T047
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http://purl.bioontology.org/ontology/MESH/C535417 Medical Subject Headings CUI