FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term neurogenic-type arthrogryposis multiplex congenita-2 ID (Ontology) DOID:0090124 (Human Disease)
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.
Also Known As "AMC neurogenic type" ; "AMC2" ; "AMCN" (for all, see Synonyms field below)
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 Genes
 neurogenic-type arthrogryposis multiplex congenita-2       1
 for disease ribbon | neurogenic-type arthrogryposis multiplex congenita-2       1
 model of | neurogenic-type arthrogryposis multiplex congenita-2       1
Spanning Tree (Parents/Children)
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autosomal recessive disease__
physical disorder____________|
nervous system disease_______|
                             arthrogryposis multiplex congenita
                              |__neurogenic-type arthrogryposis multiplex congenita-2  1 rec.
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Is a arthrogryposis multiplex congenita
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Synonyms
  • "AMC neurogenic type" EXACT
    "AMC2" EXACT OMO:0003012
    "AMCN" EXACT OMO:0003012
    "arthrogryposis multiplex congenita 2, neurogenic type" EXACT
    "arthrogryposis multiplex congenita neurogenic type" EXACT
Secondary IDs
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MESH:C536614
MIM:208100
ORDO:1143
SNOMEDCT_US_2023_03_01:715316005
UMLS_CUI:C1859721