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neurogenic arthrogryposis multiplex congenita (DOID:0090124)
Alliance: disease page
Synonyms: AMC neurogenic type; AMCN; arthrogryposis multiplex congenita neurogenic type
Alt IDs: OMIM:208100, MESH:C536614, ORDO:1143, UMLS_CUI:C1859721
Definition: A nervous system disease 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.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
12/03/2019
MGI 6.14
The Jackson Laboratory