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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 2B1
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Accession:DOID:0111600 term browser browse the term
Definition:A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in TNNI2 on chromosome 11p15.5. (DO)
Synonyms:exact_synonym: DA2B1
 primary_id: OMIM:601680
For additional species annotation, visit the Alliance of Genome Resources.


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distal arthrogryposis type 2B1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 ClinVar PMID:25741868 NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO OMIM NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                distal arthrogryposis type 2B1 2
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        peripheral nervous system disease 2533
          neuropathy 2330
            neuromuscular disease 1835
              muscular disease 1236
                arthrogryposis multiplex congenita 116
                  distal arthrogryposis 38
                    Distal Arthrogryposis Type 2 4
                      distal arthrogryposis type 2B 4
                        distal arthrogryposis type 2B1 2
paths to the root