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

OBO ID: DOID:0110298

Term Name:	autosomal recessive limb-girdle muscular dystrophy type 2N		Search Ontology:
Synonyms:	LGMD2N MDDGC2 muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related
Definition:	An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. https://www.ncbi.nlm.nih.gov/pubmed/17878207
References:	ICD10CM:G71.0 OMIM:613158 ORDO:206559
Ontology:	Human Disease ( DOID:0110298 )

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 2N PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
POMT2	pomt2	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2	613158

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None