Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	LAMININ, ALPHA-2
Synonyms	LAMM
ID	http://purl.bioontology.org/ontology/OMIM/156225
altLabel	LAMM MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY LAMININ M LAMININ 2 LAMA2 LAMININ 2, HEAVY CHAIN MEROSIN MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT
cui	C1416776 C1842898 C1263858
Gene Locus	6q22-q23
Gene Symbol	LAMA2 LAMM
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/156225.0007 http://purl.bioontology.org/ontology/OMIM/156225.0010 http://purl.bioontology.org/ontology/OMIM/156225.0015 http://purl.bioontology.org/ontology/OMIM/156225.0003 http://purl.bioontology.org/ontology/OMIM/156225.0002 http://purl.bioontology.org/ontology/OMIM/156225.0009 http://purl.bioontology.org/ontology/OMIM/156225.0004 http://purl.bioontology.org/ontology/OMIM/156225.0008 http://purl.bioontology.org/ontology/OMIM/156225.0011 http://purl.bioontology.org/ontology/OMIM/156225.0013 http://purl.bioontology.org/ontology/OMIM/156225.0012 http://purl.bioontology.org/ontology/OMIM/156225.0005 http://purl.bioontology.org/ontology/OMIM/156225.0001 http://purl.bioontology.org/ontology/OMIM/156225.0014 http://purl.bioontology.org/ontology/OMIM/156225.0006
MIMTYPEMEANING	Gene with known sequence
notation	156225
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	LAMININ, ALPHA-2
tui	T028 T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C564317	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/LNC/LP34682-2	Logical Observation Identifier Names and Codes	CUI
http://purl.bioontology.org/ontology/MESH/C102645	Medical Subject Headings	LOOM
http://purl.bioontology.org/ontology/MESH/C537384	Medical Subject Headings	CUI