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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
For additional species annotation, visit the Alliance of Genome Resources.


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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
RGD:11554173
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:11554173
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        neurogenic arthrogryposis multiplex congenita 2
          ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        peripheral nervous system disease 1998
          neuropathy 1823
            neuromuscular disease 1406
              muscular disease 902
                Arthrogryposis 55
                  neurogenic arthrogryposis multiplex congenita 2
                    ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT 1
paths to the root