ZFIN Human Disease: congenital myasthenic syndrome 17

OBO ID: DOID:0110674

OBO ID: DOID:0110674

Term Name:	congenital myasthenic syndrome 17	Search Ontology:
Synonyms:	CMS17
Definition:	A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11. https://www.ncbi.nlm.nih.gov/pubmed/24234652
References:	OMIM:616304
Ontology:	Human Disease (DOID:0110674)

Relationships

is a type of:	autosomal recessive disease congenital myasthenic syndrome autosomal recessive disease congenital myasthenic syndrome Show first 5 Terms

OTHER congenital myasthenic syndrome 17 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
LRP4	lrp4	?Myasthenic syndrome, congenital, 17	616304

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None