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RGD uses the Human Disease Ontology (DO, 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
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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
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9666
        genetic disease 9072
          monogenic disease 7224
            autosomal genetic disease 6350
              autosomal dominant disease 4485
                distal arthrogryposis type 1B 1
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        peripheral nervous system disease 2581
          neuropathy 2374
            neuromuscular disease 1889
              muscular disease 1289
                arthrogryposis multiplex congenita 118
                  distal arthrogryposis 38
                    distal arthrogryposis type 1 25
                      distal arthrogryposis type 1B 1
paths to the root