neurogenic-type arthrogryposis multiplex congenita-2

Term ID

DOID:0090124

Synonyms

• AMC neurogenic type
• AMC2
• AMCN
• arthrogryposis multiplex congenita 2, neurogenic type
• arthrogryposis multiplex congenita neurogenic type

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. (2)

References

• MESH:C536614
• MIM:208100
• ORDO:1143
• SNOMEDCT_US_2023_03_01:715316005
• UMLS_CUI:C1859721

Ontology

Human Disease   ( DOID:0090124 )