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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

MESH:C536614

OMIM:208100

ORDO:1143

SNOMEDCT_US_2023_03_01:715316005

UMLS_CUI:C1859721

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

is_a arthrogryposis multiplex congenita

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