DO_rare_slim has material basis in arthrogryposis multiplex congenita neurogenic-type arthrogryposis multiplex congenita-2 SNOMEDCT_US_2025_09_01:715316005 disease_ontology MIM:208100 ORDO:1143 AMC2 DOID:0090124 AMC neurogenic type 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. MESH:C536614 UMLS_CUI:C1859721 AMCN arthrogryposis multiplex congenita 2, neurogenic type arthrogryposis multiplex congenita neurogenic type autosomal recessive inheritance