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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:neurogenic-type arthrogryposis multiplex congenita-2
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Accession:DOID:0090124 term browser browse the term
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. (DO)
Synonyms:exact_synonym: AMC, neurogenic type;   AMC2;   AMCN;   arthrogryposis multiplex congenita neurogenic type;   neurogenic arthrogryposis multiplex congenita;   neurogenic arthrogryposis multiplex congenita 2;   neurogenic type of AMC
 primary_id: MESH:C536614
 alt_id: DOID:9006267;   OMIM:208100
 xref: ORDO:1143
For additional species annotation, visit the Alliance of Genome Resources.



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neurogenic-type arthrogryposis multiplex congenita-2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 2, neurogenic type OMIM
ClinVar
PMID:5491443 PMID:28317099 NCBI chr10:16,531,192...16,627,183
Ensembl chr10:16,531,194...16,626,957
JBrowse link
G Lgi4 leucine-rich repeat LGI family, member 4 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 2, neurogenic type ClinVar PMID:25741868 NCBI chr 1:86,294,539...86,305,909
Ensembl chr 1:86,295,074...86,304,874
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    physical disorder 4312
      arthrogryposis multiplex congenita 157
        neurogenic-type arthrogryposis multiplex congenita-2 2
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      musculoskeletal system disease 7282
        connective tissue disease 5140
          bone disease 3815
            bone inflammation disease 1333
              arthropathy 1316
                arthrogryposis multiplex congenita 157
                  neurogenic-type arthrogryposis multiplex congenita-2 2
paths to the root