early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Disease Ontology Browser

Home
Genes
Phenotypes
Human Disease
Expression
Recombinases
Function
Strains / SNPs
Homology
Tumors

About Help FAQ

Search
Download
More Resources
Submit Data
Find Mice (IMSR)
Analysis Tools
Contact Us
Browsers

Disease Ontology Browser

early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome (DOID:0111333)
Alliance: disease page
Synonyms: congenital myopathy 10A; EMARDD; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
Alt IDs: OMIM:614399, ORDO:439212
Definition: A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24