OBO ID: DOID:0050646
Term Name: distal arthrogryposis Search Ontology:
Synonyms:
  • Arthrogryposis Multiplex Congenita
  • Freeman-Sheldon syndrome
  • Freeman-Sheldon syndrome variant
  • Sheldon-Hall syndrome
Definition: A muscle tissue disease characterized by congenital joint contractures of hand and feet. http://en.wikipedia.org/wiki/Arthrogryposis
References:
Ontology: Human Disease   (DOID:0050646)
OTHER distal arthrogryposis PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ECEL1 Arthrogryposis, distal, type 5D 615065
FBN2 Contractural arachnodactyly, congenital 121050
MYBPC1 Arthrogryposis, distal, type 1B 614335
PIEZO2 Arthrogryposis, distal, type 5 108145
Arthrogryposis, distal, type 3 114300
TNNI2 Arthrogryposis, distal, type 2B1 601680
TPM2 Arthrogryposis, distal, type 1A 108120
Arthrogryposis, distal, type 2B4 108120
MYH3 Arthrogryposis, distal, type 2A (Freeman-Sheldon) 193700
MYH8 Trismus-pseudocamptodactyly syndrome 158300
PHENOTYPE No data available

CITATIONS (3)