neurogenic-type arthrogryposis multiplex congenita-2 Disease Ontology Browser

Disease Ontology Browser

neurogenic-type arthrogryposis multiplex congenita-2 (DOID:0090124)
Alliance: disease page
Synonyms: AMC2; AMC neurogenic type; AMCN; arthrogryposis multiplex congenita 2, neurogenic type; arthrogryposis multiplex congenita neurogenic type
Alt IDs: OMIM:208100, MESH:C536614, ORDO:1143, UMLS_CUI:C1859721
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.

Disease References using Mouse Models (1)

Allelic Composition	Genetic Background	Reference	Phenotypes
pma/pma	involves: CF-1	J:8195	View

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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