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

OBO ID: DOID:0110283

Term Name:	autosomal recessive limb-girdle muscular dystrophy type 2J		Search Ontology:
Synonyms:	LGMD2J muscular dystrophy, limb-girdle, type 2J
Definition:	An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN). https://www.ncbi.nlm.nih.gov/pubmed/12145747
References:	ICD10CM:G71.0 OMIM:608807 ORDO:140922
Ontology:	Human Disease ( DOID:0110283 )

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 2J PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TTN	ttn.1 ttn.2	Muscular dystrophy, limb-girdle, autosomal recessive 10	608807

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None