OBO ID: DOID:0090124
Term Name: neurogenic-type arthrogryposis multiplex congenita-2 Search Ontology:
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 neurogenic-type arthrogryposis multiplex congenita-2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ERGIC1 ?Arthrogryposis multiplex congenita 2, neurogenic type 208100
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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