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:distal arthrogryposis type 1B
go back to main search page
Accession:DOID:0111598 term browser browse the term
Definition:A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in MYBPC1 on chromosome 12q23.2. (DO)
Synonyms:exact_synonym: DA1B
 primary_id: OMIM:614335
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
distal arthrogryposis type 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mybpc1 myosin binding protein C1 ISO ClinVar Annotator: match by OMIM:614335
ClinVar Annotator: match by term: Distal arthrogryposis type 1B
OMIM
ClinVar
PMID:18414213 PMID:20045868 PMID:22415774 PMID:23657818 PMID:23873045 More... NCBI chr 7:22,930,350...23,015,981
Ensembl chr 7:22,930,350...23,015,957
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                distal arthrogryposis type 1B 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        peripheral nervous system disease 2565
          neuropathy 2360
            neuromuscular disease 1879
              muscular disease 1283
                arthrogryposis multiplex congenita 116
                  distal arthrogryposis 38
                    distal arthrogryposis type 1 25
                      distal arthrogryposis type 1B 1
paths to the root