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. It 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;   ARCS1;   ARCS2;   ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2;   ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS SYNDROME;   Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome;   Arthrogryposis, renal dysfunction, and cholestasis 1;   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: OMIM:208085;   OMIM:613404;   RDO:0000472
 xref: OMIM:PS208085
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ARC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 JBrowse link 1 83,163,103 83,236,615 RGD:8554872
G Gba glucosylceramidase beta JBrowse link 2 188,511,781 188,522,602 RGD:8554872
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog JBrowse link 6 111,271,283 111,296,013 RGD:7240710
RGD:8554872
RGD:11554173
G Vps33b VPS33B, late endosome and lysosome associated JBrowse link 1 142,060,955 142,083,955 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
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  disease 14823
    syndrome 4218
      ARC syndrome 5
Path 2
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  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        peripheral nervous system disease 2009
          neuropathy 1830
            neuromuscular disease 1411
              muscular disease 908
                Arthrogryposis 56
                  ARC syndrome 5
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.