ZFIN Human Disease: congenital muscular dystrophy due to integrin alpha-7 deficiency

OBO ID: DOID:0110639

Term Name:	congenital muscular dystrophy due to integrin alpha-7 deficiency		Search Ontology:
Synonyms:	congenital muscular dystrophy with integrin alpha-7 deficiency congenital muscular dystrophy with ITGA7 deficiency congenital myopathy due to integrin alpha-7 deficiency
Definition:	A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13. https://www.ncbi.nlm.nih.gov/pubmed/9590299
References:	ICD10CM:G71.2 OMIM:613204 ORDO:34520
Ontology:	Human Disease ( DOID:0110639 )

Relationships

is a type of:	autosomal recessive disease congenital muscular dystrophy autosomal recessive disease congenital muscular dystrophy Show first 5 Terms

OTHER congenital muscular dystrophy due to integrin alpha-7 deficiency PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ITGA7	itga7	Muscular dystrophy, congenital, due to ITGA7 deficiency	613204

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None