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Summary Literature (0)
DOID:0090124 - neurogenic-type arthrogryposis multiplex congenita-2

Disease Ontology 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.

Synonyms: AMC neurogenic type, AMC2, AMCN, arthrogryposis multiplex congenita 2, neurogenic type, arthrogryposis multiplex congenita neurogenic type,

Xenbase Genes : ergic1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008823 - arthrogryposis multiplex congenita 2, neurogenic type


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): arthrogryposis multiplex congenita (is_a), autosomal recessive disease (is_a), nervous system disease (is_a)