Emery-Dreifuss muscular dystrophy

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Information
Disease name
Emery-Dreifuss muscular dystrophy
Disease ID
DOID:11726
Description
"A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle." [url:http\://en.wikipedia.org/wiki/Emery%E2%80%93Dreifuss_muscular_dystrophy, url:http\://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy]
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
EMD X 154,379,295 154,381,523 24
SYNE1 6 152,121,687 152,637,362 2
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT01403402 Recruiting Congenital Muscle Disease Study of Patient and Family Reported Medical Information September 2009 September 2029
Disase is a (Disease Ontology)
DOID:9884
Cross Reference ID (Disease Ontology)
GARD:6329
Cross Reference ID (Disease Ontology)
MESH:D020389
Cross Reference ID (Disease Ontology)
MIM:PS310300
Cross Reference ID (Disease Ontology)
NCI:C84685
Cross Reference ID (Disease Ontology)
ORDO:261
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:129620000
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0410189
Exact Synonym (Disease Ontology)
EDMD
OMIM Phenotype Series Number (OMIM)
PS310300
OrphaNumber from OrphaNet (Orphanet)
261