FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital muscular dystrophy ID (Ontology) DOID:0050557 (Human Disease)
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.
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 Genes
 congenital muscular dystrophy       1
 for disease ribbon | congenital muscular dystrophy       1
 model of | congenital muscular dystrophy       1
Spanning Tree (Parents/Children)
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disease
myopathy
 |__muscular dystrophy__
 |__physical disorder___|
                        congenital muscular dystrophy  66 rec.
                         |__Bethlem myopathy
                         |__congenital merosin-deficient muscular dystrophy 1A 1 rec.
                         |__congenital muscular dystrophy 1B
                         |__congenital muscular dystrophy due to integrin alpha-7 deficiency 1 rec.
                         |__congenital muscular dystrophy due to LMNA mutation 24 rec.
                         |__congenital muscular dystrophy with cataracts and intellectual disability 2 rec.
                         |__megaconial type congenital muscular dystrophy 1 rec.
                         |__muscular dystrophy-dystroglycanopathy 30 rec.
                         |   |__congenital muscular dystrophy-dystroglycanopathy type A(+) 16 rec.
                         |   |__muscular dystrophy-dystroglycanopathy type B(+) 12 rec.
                         |   |__muscular dystrophy-dystroglycanopathy type C8
                         |   |__muscular dystrophy-dystroglycanopathy type C12
                         |__rigid spine muscular dystrophy 1
                         |__Ullrich congenital muscular dystrophy
                         |   |__Ullrich congenital muscular dystrophy 1A
                         |   |__Ullrich congenital muscular dystrophy 1B
                         |   |__Ullrich congenital muscular dystrophy 1C
                         |   |__Ullrich congenital muscular dystrophy 2
                         |__Walker-Warburg syndrome 12 rec.
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muscular dystrophy
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GARD:9138
ICD9CM:359.0
MIM:254100
ORDO:97242
SNOMEDCT_US_2023_03_01:193221009
UMLS_CUI:C2937300