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Standards Ontologies Notations
congenital muscular dystrophy

Summary
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.
Super Class
muscular dystrophy physical disorder
Disease Ontology
DOID:0050557
Mondo Disease Ontology
UMLS
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
1291 COL6A1 collagen type VI alpha 1 chain
1293 COL6A3 collagen type VI alpha 3 chain
1778 DYNC1H1 dynein cytoplasmic 1 heavy chain 1
4000 LMNA lamin A/C
4001 LMNB1 lamin B1
84823 LMNB2 lamin B2
Displaying all 6 entries
Gene ID Gene Symbol Description Source
12833 Col6a1 collagen, type VI, alpha 1
12835 Col6a3 collagen, type VI, alpha 3
13424 Dync1h1 dynein cytoplasmic 1 heavy chain 1
16905 Lmna lamin A
16906 Lmnb1 lamin B1
16907 Lmnb2 lamin B2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
29489 Dync1h1 dynein cytoplasmic 1 heavy chain 1
116685 Lmnb1 lamin B1
Displaying 1 entry
Gene ID Gene Symbol Description Source
182256 R193.2 VWFA domain-containing protein
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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024