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Metadata
ID DOID:0050557
Name congenital muscular dystrophy
Definition 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.
http://rarediseases.org/rare-diseases/congenital-muscular-dystrophy/, https://www.ninds.nih.gov/Disorders/All-Disorders/Muscular-Dystrophy-Information-Page
Xrefs

GARD:9138

ICD9CM:359.0

OMIM:254100

ORDO:97242

SNOMEDCT_US_2019_09_01:111501005

UMLS_CUI:C2937300

Subsets

DO_rare_slim

Parent Relationships

is_a muscular dystrophy

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