Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5
Synonyms

MDDGC5
ID

http://purl.bioontology.org/ontology/OMIM/607155
altLabel

MDDGC5

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I

LGMD2I

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
cui

C1846672
Gene Locus

19q13.3
Gene Symbol

MDDGB5

FKRP

MDDGA5

MDDGC5

LGMD2I

MDC1C
Has manifestation

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

http://purl.bioontology.org/ontology/OMIM/MTHU036949

http://purl.bioontology.org/ontology/OMIM/MTHU000719

http://purl.bioontology.org/ontology/OMIM/MTHU003607

http://purl.bioontology.org/ontology/OMIM/MTHU003605

http://purl.bioontology.org/ontology/OMIM/MTHU029578

http://purl.bioontology.org/ontology/OMIM/MTHU003611

http://purl.bioontology.org/ontology/OMIM/MTHU000660

http://purl.bioontology.org/ontology/OMIM/MTHU003173

http://purl.bioontology.org/ontology/OMIM/MTHU002771

http://purl.bioontology.org/ontology/OMIM/MTHU001140

http://purl.bioontology.org/ontology/OMIM/MTHU003615

http://purl.bioontology.org/ontology/OMIM/MTHU000759

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU002773

http://purl.bioontology.org/ontology/OMIM/MTHU000422

http://purl.bioontology.org/ontology/OMIM/MTHU001126

http://purl.bioontology.org/ontology/OMIM/MTHU000720

http://purl.bioontology.org/ontology/OMIM/MTHU001138

http://purl.bioontology.org/ontology/OMIM/MTHU003610

http://purl.bioontology.org/ontology/OMIM/MTHU003604

http://purl.bioontology.org/ontology/OMIM/MTHU003614

http://purl.bioontology.org/ontology/OMIM/MTHU003602

http://purl.bioontology.org/ontology/OMIM/MTHU033569

http://purl.bioontology.org/ontology/OMIM/MTHU003164

http://purl.bioontology.org/ontology/OMIM/MTHU003606

http://purl.bioontology.org/ontology/OMIM/MTHU000681

http://purl.bioontology.org/ontology/OMIM/MTHU029579

http://purl.bioontology.org/ontology/OMIM/MTHU029577

http://purl.bioontology.org/ontology/OMIM/MTHU037764

http://purl.bioontology.org/ontology/OMIM/MTHU001652

http://purl.bioontology.org/ontology/OMIM/MTHU029580

http://purl.bioontology.org/ontology/OMIM/MTHU002772

http://purl.bioontology.org/ontology/OMIM/MTHU003612
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

607155
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5
tui

T047
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http://purl.bioontology.org/ontology/MESH/C564612 Medical Subject Headings CUI