Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

MYOPATHY, CENTRONUCLEAR, X-LINKED
Synonyms

CNMX
ID

http://purl.bioontology.org/ontology/OMIM/310400
altLabel

CNMX

MTM1

XLMTM

MYOTUBULAR MYOPATHY, X-LINKED

MYOTUBULAR MYOPATHY 1

MTMX
cui

C0410203
Gene Locus

Xq28
Gene Symbol

MTM1

MTMX
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU042415

http://purl.bioontology.org/ontology/OMIM/MTHU007138

http://purl.bioontology.org/ontology/OMIM/MTHU042413

http://purl.bioontology.org/ontology/OMIM/MTHU007130

http://purl.bioontology.org/ontology/OMIM/MTHU007136

http://purl.bioontology.org/ontology/OMIM/MTHU007144

http://purl.bioontology.org/ontology/OMIM/MTHU007132

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU000990

http://purl.bioontology.org/ontology/OMIM/MTHU007150

http://purl.bioontology.org/ontology/OMIM/MTHU007154

http://purl.bioontology.org/ontology/OMIM/MTHU007148

http://purl.bioontology.org/ontology/OMIM/MTHU007140

http://purl.bioontology.org/ontology/OMIM/MTHU038242

http://purl.bioontology.org/ontology/OMIM/MTHU000680

http://purl.bioontology.org/ontology/OMIM/MTHU000988

http://purl.bioontology.org/ontology/OMIM/MTHU036444

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU042414

http://purl.bioontology.org/ontology/OMIM/MTHU007139

http://purl.bioontology.org/ontology/OMIM/MTHU007131

http://purl.bioontology.org/ontology/OMIM/MTHU007137

http://purl.bioontology.org/ontology/OMIM/MTHU007135

http://purl.bioontology.org/ontology/OMIM/MTHU007133

http://purl.bioontology.org/ontology/OMIM/MTHU007153

http://purl.bioontology.org/ontology/OMIM/MTHU007147

http://purl.bioontology.org/ontology/OMIM/MTHU007145

http://purl.bioontology.org/ontology/OMIM/MTHU007143

http://purl.bioontology.org/ontology/OMIM/MTHU007149

http://purl.bioontology.org/ontology/OMIM/MTHU007141

http://purl.bioontology.org/ontology/OMIM/MTHU002185

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

http://purl.bioontology.org/ontology/OMIM/MTHU036439

http://purl.bioontology.org/ontology/OMIM/MTHU038310
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

310400
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

MYOPATHY, CENTRONUCLEAR, X-LINKED
tui

T019
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D020914 Medical Subject Headings CUI