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congenital muscular dystrophy

Disease Summary
Associated Targets (52)
Tbio

46

Tdark

3

Tclin

2

Tchem

1


GARD Rare
Mondo Description A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.
Disease Ontology Description A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.
Mondo Term and Equivalent IDs
MONDO:0019950:  congenital muscular dystrophy
EFO:0006819: 
GARD:0009138: 
Orphanet:97242: 
SCTID:240059009: 
UMLS:C0699743: