Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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;   AMC2;   AMCN;   Neurogenic Arthrogryposis Multiplex Congenita 2;   arthrogryposis multiplex congenita 2, neurogenic type;   arthrogryposis multiplex congenita neurogenic type;   neurogenic arthrogryposis multiplex congenita;   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.


show annotations for term's descendants           Sort by:
 
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 2, neurogenic type
OMIM
CTD
ClinVar
PMID:5491443 PMID:28317099 NCBI chr10:16,821,393...16,912,050
Ensembl chr10:16,821,880...16,910,641
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 1:89,491,588...89,502,939
Ensembl chr 1:89,491,654...89,502,974
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17014
    disease of anatomical entity 16363
      musculoskeletal system disease 6301
        muscular disease 1191
          arthrogryposis multiplex congenita 113
            neurogenic-type arthrogryposis multiplex congenita-2 2
Path 2
Term Annotations click to browse term
  disease 17014
    disease of anatomical entity 16363
      nervous system disease 11947
        peripheral nervous system disease 2461
          neuropathy 2260
            neuromuscular disease 1793
              muscular disease 1191
                arthrogryposis multiplex congenita 113
                  neurogenic-type arthrogryposis multiplex congenita-2 2
paths to the root