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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 WITH RENAL DYSFUNCTION AND CHOLESTASIS SYNDROME;   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
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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
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 Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog JBrowse link 6 111,271,283 111,296,013 RGD:8554872
G Vps33b VPS33B, late endosome and lysosome associated JBrowse link 1 142,060,955 142,083,955 RGD:7240710
RGD:8554872
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 16022
    syndrome 6143
      ARC syndrome 2
        arthrogryposis, renal dysfunction, and cholestasis 1 2
        arthrogryposis, renal dysfunction, and cholestasis 2 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        peripheral nervous system disease 2367
          neuropathy 2183
            neuromuscular disease 1718
              muscular disease 1129
                Arthrogryposis 93
                  ARC syndrome 2
                    arthrogryposis, renal dysfunction, and cholestasis 1 2
                    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.