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-4
go back to main search page
Accession:DOID:0080980 term browser browse the term
Definition:An arthrogryposis multiplex congenita that has_material_basis_in homozygous mutation in the SCYL2 gene on chromosome 12q23. (DO)
Synonyms:exact_synonym: AMC4;   AMCNACC;   Neurogenic Arthrogryposis Multiplex Congenita 4 with Agenesis of the Corpus Callosum;   Zain syndrome;   neurogenic arthrogryposis multiplex congenita with agenesis of the corpus callosum
 primary_id: OMIM:618766
 alt_id: DOID:9008459
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
arthrogryposis multiplex congenita-4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scyl2 SCY1 like pseudokinase 2 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum OMIM
ClinVar
PMID:25741868 PMID:31960134 NCBI chr 7:24,064,404...24,117,338
Ensembl chr 7:24,064,404...24,117,305
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-4 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-4 1
paths to the root