ZFIN Human Disease: autosomal recessive limb-girdle muscular dystrophy type 2K

OBO ID: DOID:0110297

Term Name:	autosomal recessive limb-girdle muscular dystrophy type 2K		Search Ontology:
Synonyms:	LGMD2K limb-girdle muscular dystrophy-intellectual disability syndrome MDDGC1 muscular dystrophy limb-girdle type 2K muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1
Definition:	An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1). https://www.ncbi.nlm.nih.gov/pubmed/15792865
References:	ICD10CM:G71.0 OMIM:609308 ORDO:86812
Ontology:	Human Disease ( DOID:0110297 )

Relationships

is a type of:	autosomal recessive limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy Show first 5 Terms

OTHER autosomal recessive limb-girdle muscular dystrophy type 2K PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
POMT1	pomt1	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1	609308

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None