ONTOLOGY REPORT - ANNOTATIONS


Term:neurogenic arthrogryposis multiplex congenita
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Accession:DOID:0090124 term browser browse the term
Definition:A nervous system disease characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor nueron depletion that has_material_basis_in variation in the chromosome region 5q35. (DO)
Synonyms:exact_synonym: AMC, neurogenic type;   AMCN;   Neurogenic type of AMC;   arthrogryposis multiplex congenita neurogenic type
 primary_id: MESH:C536614
 alt_id: OMIM:208100;   RDO:0002249
 xref: ORDO:1143
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neurogenic arthrogryposis multiplex congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 JBrowse link 10 16,821,393 16,912,050 RGD:8554872
RGD:7240710
G Lgi4 leucine-rich repeat LGI family, member 4 JBrowse link 1 89,491,588 89,502,939 RGD:8554872
ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lgi4 leucine-rich repeat LGI family, member 4 JBrowse link 1 89,491,588 89,502,939 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        neurogenic arthrogryposis multiplex congenita 2
          ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        peripheral nervous system disease 2018
          neuropathy 1839
            neuromuscular disease 1413
              muscular disease 909
                Arthrogryposis 57
                  neurogenic arthrogryposis multiplex congenita 2
                    ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.