Online Mendelian Inheritance in Man - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/607155 http://purl.bioontology.org/ontology/OMIM/607155
Preferred Name	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5
Synonyms	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 9 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED MDDGC5 LGMDR9 LGMD2I
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 9 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED MDDGC5 LGMDR9 LGMD2I See more See less
prefLabel	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5
Gene Symbol	MDDGA5 FKRP MDC1C LGMDR9 MDDGB5 MDDGC5 See more See less
Scope Statement	Caused by mutation in the fukutin-related protein gene (FKRP, 606596.0004) [MOLECULAR BASIS] Most common mutation is LEU276ILE (606596.0004) [MISCELLANEOUS] Variable age of onset (range 1-40 years) [MISCELLANEOUS] Variable severity [MISCELLANEOUS] Some patients become wheelchair-bound [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU002773 http://purl.bioontology.org/ontology/OMIM/MTHU003612 http://purl.bioontology.org/ontology/OMIM/MTHU003607 http://purl.bioontology.org/ontology/OMIM/MTHU001126 http://purl.bioontology.org/ontology/OMIM/MTHU000719 http://purl.bioontology.org/ontology/OMIM/MTHU000660 http://purl.bioontology.org/ontology/OMIM/MTHU001138 http://purl.bioontology.org/ontology/OMIM/MTHU000422 http://purl.bioontology.org/ontology/OMIM/MTHU029577 http://purl.bioontology.org/ontology/OMIM/MTHU001652 http://purl.bioontology.org/ontology/OMIM/MTHU003602 http://purl.bioontology.org/ontology/OMIM/MTHU003611 http://purl.bioontology.org/ontology/OMIM/MTHU037764 http://purl.bioontology.org/ontology/OMIM/MTHU003606 http://purl.bioontology.org/ontology/OMIM/MTHU003164 http://purl.bioontology.org/ontology/OMIM/MTHU002771 http://purl.bioontology.org/ontology/OMIM/MTHU000681 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU029578 http://purl.bioontology.org/ontology/OMIM/MTHU003604 http://purl.bioontology.org/ontology/OMIM/MTHU001140 http://purl.bioontology.org/ontology/OMIM/MTHU036949 http://purl.bioontology.org/ontology/OMIM/MTHU003610 http://purl.bioontology.org/ontology/OMIM/MTHU000347 http://purl.bioontology.org/ontology/OMIM/MTHU003173 http://purl.bioontology.org/ontology/OMIM/MTHU002772 http://purl.bioontology.org/ontology/OMIM/MTHU003605 http://purl.bioontology.org/ontology/OMIM/MTHU000720 http://purl.bioontology.org/ontology/OMIM/MTHU068554 See more See less
tui	T047
Gene Locus	19q13.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	607155
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1846672
OMIM Entry Type	3
OMIM MimType Value	pound

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