Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	MYOTUBULARIN
Synonyms	MTM1
ID	http://purl.bioontology.org/ontology/OMIM/300415
altLabel	MTM1 MYOTUBULAR MYOPATHY, X-LINKED
cui	C1417434 C0410203
Gene Locus	Xq28
Gene Symbol	MTM1 MTMX
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/300415.0010 http://purl.bioontology.org/ontology/OMIM/300415.0002 http://purl.bioontology.org/ontology/OMIM/300415.0004 http://purl.bioontology.org/ontology/OMIM/300415.0003 http://purl.bioontology.org/ontology/OMIM/300415.0008 http://purl.bioontology.org/ontology/OMIM/300415.0009 http://purl.bioontology.org/ontology/OMIM/300415.0001 http://purl.bioontology.org/ontology/OMIM/300415.0005 http://purl.bioontology.org/ontology/OMIM/300415.0006 http://purl.bioontology.org/ontology/OMIM/300415.0007
MIMTYPEMEANING	Gene with known sequence
notation	300415
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	MYOTUBULARIN
tui	T028 T019

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/PR_000010730	Protein Ontology	LOOM
http://purl.bioontology.org/ontology/MESH/C099588	Medical Subject Headings	LOOM
http://purl.bioontology.org/ontology/LNC/LP33046-1	Logical Observation Identifier Names and Codes	CUI
http://purl.bioontology.org/ontology/MESH/D020914	Medical Subject Headings	CUI