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Date: Tue Jan 28 2025
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congenital muscular dystrophy 1B
DOID:0110634
Summary
Associated Genes
Associated Alleles
Associated Models
Disease
congenital muscular dystrophy 1B
Definition
A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42.
[1]
Synonyms
CMD1B
congenital muscular dystrophy type 1B
Show All 3
Cross References
ICD10CM:G71.2
MIM:604801
Show All 3
Parent Terms
autosomal recessive disease
congenital muscular dystrophy
Child Terms
None
Sources of Associations
RGD
MGI
ZFIN
FB
WB
SGD
Associated Genes
Associated Alleles
Associated Models
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