Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A
Synonyms

MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY
ID

http://purl.bioontology.org/ontology/OMIM/607855
altLabel

MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY

MDC1A

MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT
cui

C1842898

C1263858
Gene Locus

6q22-q23
Gene Symbol

LAMA2

LAMM
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU042877

http://purl.bioontology.org/ontology/OMIM/MTHU000347

http://purl.bioontology.org/ontology/OMIM/MTHU042875

http://purl.bioontology.org/ontology/OMIM/MTHU010545

http://purl.bioontology.org/ontology/OMIM/MTHU000379

http://purl.bioontology.org/ontology/OMIM/MTHU025304

http://purl.bioontology.org/ontology/OMIM/MTHU045074

http://purl.bioontology.org/ontology/OMIM/MTHU042085

http://purl.bioontology.org/ontology/OMIM/MTHU002703

http://purl.bioontology.org/ontology/OMIM/MTHU002709

http://purl.bioontology.org/ontology/OMIM/MTHU002707

http://purl.bioontology.org/ontology/OMIM/MTHU002701

http://purl.bioontology.org/ontology/OMIM/MTHU002705

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

http://purl.bioontology.org/ontology/OMIM/MTHU002711

http://purl.bioontology.org/ontology/OMIM/MTHU042876

http://purl.bioontology.org/ontology/OMIM/MTHU002706

http://purl.bioontology.org/ontology/OMIM/MTHU011765

http://purl.bioontology.org/ontology/OMIM/MTHU001721

http://purl.bioontology.org/ontology/OMIM/MTHU000349

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU002710

http://purl.bioontology.org/ontology/OMIM/MTHU002702
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

607855
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C564317 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C537384 Medical Subject Headings CUI