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ONTOLOGY REPORT - ANNOTATIONS


Term:ARC syndrome
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Accession:DOID:0050763 term browser browse the term
Definition:A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3. (DO)
Synonyms:exact_synonym: ARCS;   ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS SYNDROME;   Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome;   arthrogryposis multiplex congenita, renal dysfunction, and cholestasis;   arthrogryposis renal dysfunction cholestasis syndrome;   arthrogryposis, renal dysfunction, and cholestasis;   arthrogryposis-renal dysfunction-cholestasis
 primary_id: MESH:C535382
 alt_id: RDO:0000472
 xref: OMIM:PS208085;   ORDO:2697
For additional species annotation, visit the Alliance of Genome Resources.


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ARC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog JBrowse link 6 111,271,283 111,296,013 RGD:11554173
RGD:8554872
G Vps33b VPS33B, late endosome and lysosome associated JBrowse link 1 142,060,955 142,083,955 RGD:8554872
RGD:11554173
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
arthrogryposis, renal dysfunction, and cholestasis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog JBrowse link 6 111,271,283 111,296,013 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    syndrome 5135
      ARC syndrome 2
        arthrogryposis, renal dysfunction, and cholestasis 1 1
        arthrogryposis, renal dysfunction, and cholestasis 2 1
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        peripheral nervous system disease 2112
          neuropathy 1934
            neuromuscular disease 1504
              muscular disease 941
                Arthrogryposis 52
                  ARC syndrome 2
                    arthrogryposis, renal dysfunction, and cholestasis 1 1
                    arthrogryposis, renal dysfunction, and cholestasis 2 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.