Search Ontology:
Human Disease

neurogenic-type arthrogryposis multiplex congenita-2

Term ID
DOID:0090124
Synonyms
  • AMC neurogenic type
  • AMC2
  • AMCN
  • arthrogryposis multiplex congenita 2, neurogenic type
  • arthrogryposis multiplex congenita neurogenic type
Definition
An arthrogryposis multiplex congenita that is characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor neuron depletion, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the endoplasmic reticulum-golgi intermediate compartment protein 1 gene (ERGIC1) on chromosome region 5q35. (2)
References
Ontology
Human Disease   ( DOID:0090124 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models