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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:0008823 - arthrogryposis multiplex congenita 2, neurogenic type |
Other Model Organisms: Alliance, 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)