| Metadata | |
|---|---|
| ID | DOID:0090124 |
| Name | neurogenic-type arthrogryposis multiplex congenita-2 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/28317099, https://www.omim.org/entry/208100 |
| Xrefs |
SNOMEDCT_US_2023_03_01:715316005 |
| Subsets |
DO_rare_slim |
| Synonyms |
AMC neurogenic type [EXACT] AMC2 [EXACT] AMCN [EXACT] arthrogryposis multiplex congenita 2, neurogenic type [EXACT] arthrogryposis multiplex congenita neurogenic type [EXACT] |
| Parent Relationships |