ZFIN Human Disease: congenital myopathy 6

OBO ID: DOID:0080719

Term Name:	congenital myopathy 6		Search Ontology:
Synonyms:	proximal myopathy and ophthalmoplegia
Definition:	A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13. https://pubmed.ncbi.nlm.nih.gov/24193343/
References:	GARD:9494 OMIM:605637 ORDO:79091
Ontology:	Human Disease ( DOID:0080719 )

Relationships

is a type of:	autosomal dominant disease autosomal recessive disease congenital myopathy autosomal dominant disease autosomal recessive disease congenital myopathy Show first 5 Terms

OTHER congenital myopathy 6 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MYH2	myhz1.1	Congenital myopathy 6 with ophthalmoplegia	605637

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None