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 1 - 10 of 12 in total
Gene ID Gene Symbol Description Source
13599 Ecel1 endothelin converting enzyme-like 1
14119 Fbn2 fibrillin 2
17295 Met met proto-oncogene
17879 Myh1 myosin, heavy polypeptide 1, skeletal muscle, adult
17882 Myh2 myosin, heavy polypeptide 2, skeletal muscle, adult
17883 Myh3 myosin, heavy polypeptide 3, skeletal muscle, embryonic
17884 Myh4 myosin, heavy polypeptide 4, skeletal muscle
17888 Myh6 myosin, heavy polypeptide 6, cardiac muscle, alpha
140781 Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta
235130 Adamts15 ADAM metallopeptidase with thrombospondin type 1 motif 15
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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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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Last updated: December 9, 2024