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Standards Ontologies Notations
arthrogryposis multiplex congenita

Summary
Definition
A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth.
Super Class
autosomal recessive disease nervous system disease physical disorder
Disease Ontology
DOID:0080954
Mondo Disease Ontology
OMIM
GARD
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
23345 SYNE1 spectrin repeat containing nuclear envelope protein 1
26276 VPS33B VPS33B late endosome and lysosome associated
Displaying 1 entry
Gene ID Gene Symbol Description Source
64009 Syne1 spectrin repeat containing, nuclear envelope 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
3771968 Msp300 Muscle-specific protein 300 kDa
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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