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:arthrogryposis multiplex congenita-1
go back to main search page
Accession:DOID:0080978 term browser browse the term
Definition:An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the LGI4 gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: AMC1;   AMCNMY;   neurogenic arthrogryposis multiplex congenita 1, with myelin defect;   neurogenic arthrogryposis multiplex congenita, with myelin defect
 primary_id: OMIM:617468
 alt_id: DOID:9002454
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
arthrogryposis multiplex congenita-1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lgi4 leucine-rich repeat LGI family, member 4 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect OMIM
ClinVar
PMID:25741868 PMID:28318499 PMID:32860008 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 18156
    physical disorder 4194
      arthrogryposis multiplex congenita 157
        arthrogryposis multiplex congenita-1 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      musculoskeletal system disease 7230
        connective tissue disease 5120
          bone disease 3800
            bone inflammation disease 1323
              arthropathy 1307
                arthrogryposis multiplex congenita 157
                  arthrogryposis multiplex congenita-1 1
paths to the root