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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 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. (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
G Lgi4 leucine-rich repeat LGI family, member 4 JBrowse link 1 89,491,588 89,502,939 RGD:8554872
Arthrogryposis Multiplex Congenita 3, Myogenic Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Esr1 estrogen receptor 1 JBrowse link 1 41,192,029 41,594,799 RGD:8554872
G Syne1 spectrin repeat containing nuclear envelope protein 1 JBrowse link 1
1
41,608,287
41,844,840
41,763,591
42,086,662
RGD:7240710
RGD:8554872
Neurogenic Arthrogryposis Multiplex Congenita 1 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
Neurogenic Arthrogryposis Multiplex Congenita 4 with Agenesis of the Corpus Callosum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scyl2 SCY1 like pseudokinase 2 JBrowse link 7 30,291,087 30,344,464 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        neurogenic arthrogryposis multiplex congenita 5
          Arthrogryposis Multiplex Congenita 3, Myogenic Type 2
          Neurogenic Arthrogryposis Multiplex Congenita 1 with Myelin Defect 1
          Neurogenic Arthrogryposis Multiplex Congenita 4 with Agenesis of the Corpus Callosum 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        peripheral nervous system disease 2367
          neuropathy 2183
            neuromuscular disease 1718
              muscular disease 1129
                Arthrogryposis 93
                  neurogenic arthrogryposis multiplex congenita 5
                    Arthrogryposis Multiplex Congenita 3, Myogenic Type 2
                    Neurogenic Arthrogryposis Multiplex Congenita 1 with Myelin Defect 1
                    Neurogenic Arthrogryposis Multiplex Congenita 4 with Agenesis of the Corpus Callosum 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.