myofibrillar myopathy

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Information
Disease name
myofibrillar myopathy
Disease ID
DOID:0080307
Description
"A myopathy that is characterized by slowly progressive muscle weakness that can involve both proximal muscles and distal muscles." [url:https\://ghr.nlm.nih.gov/condition/myofibrillar-myopathy, url:https\://rarediseases.info.nih.gov/diseases/10529/myofibrillar-myopathy, url:https\://www.ncbi.nlm.nih.gov/pubmed/23995273]
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
DES 2 219,418,377 219,426,734 16
TTN 2 178,525,989 178,807,423 6
LDB3 10 86,668,507 86,733,001 2
Annotation
Genes Mutation Description Source Links
Disase is a (Disease Ontology)
DOID:423
Cross Reference ID (Disease Ontology)
GARD:10529
Cross Reference ID (Disease Ontology)
MESH:C580316
Cross Reference ID (Disease Ontology)
MIM:PS601419
HPO Human Phenotype ID (Human Phenotype Ontology)
HP:0003715
OMIM Phenotype Series Number (OMIM)
PS601419
OrphaNumber from OrphaNet (Orphanet)
593