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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 4
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Accession:DOID:0111610 term browser browse the term
Definition:A distal arthrogryposis characterized by distal arthrogryposis with severe scoliosis. (DO)
Synonyms:exact_synonym: DA4;   DAIID;   arthrogryposis with severe scoliosis;   arthrogryposis-severe scoliosis syndrome;   distal arthrogryposis type IID
 primary_id: MESH:C563791
 alt_id: OMIM:609128
 xref: ORDO:65720


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    physical disorder 4964
      arthrogryposis multiplex congenita 241
        distal arthrogryposis 108
          distal arthrogryposis type 4 0
Path 2
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        genetic disease 13024
          monogenic disease 10419
            autosomal genetic disease 9577
              autosomal recessive disease 6657
                arthrogryposis multiplex congenita 241
                  distal arthrogryposis 108
                    distal arthrogryposis type 4 0
paths to the root