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Standards Ontologies Notations
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
Disease Ontology
DOID:0050646
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 8 entries
Gene ID Gene Symbol Description Source
2201 FBN2 fibrillin 2
4233 MET MET proto-oncogene, receptor tyrosine kinase
4604 MYBPC1 myosin binding protein C1
4619 MYH1 myosin heavy chain 1
4625 MYH7 myosin heavy chain 7
9427 ECEL1 endothelin converting enzyme like 1
22989 MYH15 myosin heavy chain 15
170689 ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif 15
Displaying entries 11 - 12 of 12 in total
Gene ID Gene Symbol Description Source
544791 Myh13 myosin, heavy polypeptide 13, skeletal muscle
668940 Myh7b myosin, heavy chain 7B, cardiac muscle, beta
Displaying all 2 entries
Gene ID Gene Symbol Description Source
24553 Met MET proto-oncogene, receptor tyrosine kinase
60417 Ecel1 endothelin converting enzyme-like 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
32660 goe gone early
40588 Nep2 Neprilysin 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
176076 fbn-1 EGF-like domain-containing protein
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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