distal arthrogryposis

Summary
Synonym
  • Arthrogryposis Multiplex Congenita
Definition
A muscle tissue disease characterized by congenital joint contractures of hand and feet.
Super Class
muscle tissue disease
External Links
Disease Ontology
DOID:0050646
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 41 - 50 of 70 in total
Gene ID Gene Symbol Description Source
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
5311 PKD2 polycystin 2, transient receptor potential cation channel
5315 PKM pyruvate kinase M1/2
5321 PLA2G4A phospholipase A2 group IVA
5716 PSMD10 proteasome 26S subunit, non-ATPase 10
5728 PTEN phosphatase and tensin homolog
5743 PTGS2 prostaglandin-endoperoxide synthase 2
6342 SCP2 sterol carrier protein 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024