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

OBO ID: DOID:0110292

Term Name:	autosomal recessive limb-girdle muscular dystrophy type 2O		Search Ontology:
Synonyms:	LGMD2O MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related
Definition:	An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34. https://www.ncbi.nlm.nih.gov/pubmed/18195152
References:	ICD10CM:G71.0 OMIM:613157 ORDO:206564
Ontology:	Human Disease ( DOID:0110292 )

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 2O PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
POMGNT1	pomgnt1	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3	613157

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None