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ONTOLOGY REPORT - ANNOTATIONS


Term:arthrogryposis, renal dysfunction, and cholestasis 1
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Accession:DOID:0111353 term browser browse the term
Definition:An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VPS33B on 15q26.1. (DO)
Synonyms:exact_synonym: ARCS1
 primary_id: OMIM:208085
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arthrogryposis, renal dysfunction, and cholestasis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vps33b VPS33B, late endosome and lysosome associated JBrowse link 1 142,060,955 142,083,955 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    syndrome 5163
      ARC syndrome 2
        arthrogryposis, renal dysfunction, and cholestasis 1 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        peripheral nervous system disease 2127
          neuropathy 1950
            neuromuscular disease 1522
              muscular disease 959
                Arthrogryposis 53
                  ARC syndrome 2
                    arthrogryposis, renal dysfunction, and cholestasis 1 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.