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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 18297
    physical disorder 5002
      arthrogryposis multiplex congenita 243
        distal arthrogryposis 110
          distal arthrogryposis type 4 0
Path 2
Term Annotations click to browse term
  disease 18297
    Developmental Disease 17907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17777
        genetic disease 17751
          monogenic disease 10362
            autosomal genetic disease 9535
              autosomal recessive disease 6606
                arthrogryposis multiplex congenita 243
                  distal arthrogryposis 110
                    distal arthrogryposis type 4 0
paths to the root