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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: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 with renal dysfunction and cholestasis syndrome;   arthrogryposis, renal dysfunction, and cholestasis;   arthrogryposis-renal dysfunction-cholestasis
 primary_id: MESH:C535382
 xref: OMIM:PS208085;   ORDO:2697


show annotations for term's descendants           Sort by:
ARC syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO CTD Direct Evidence: marker/mechanism
OMIM:208085 | OMIM:613404		 CTD
MouseDO		 PMID:20190753 NCBI chr 8:50,233,162...50,258,030
Ensembl chr 8:50,233,917...50,254,507 		JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO ClinVar Annotator: match by term: Arthrogryposis with renal dysfunction and cholestasis syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:53,220,199...53,239,738
Ensembl chr 3:53,220,194...53,239,732 		JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868 NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151 		JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868 PMID:26715165 PMID:28492532 NCBI chr16:15,009,031...15,041,786
Ensembl chr16:15,009,031...15,041,504 		JBrowse link
G VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868 PMID:31319225 NCBI chr 8:50,233,162...50,258,030
Ensembl chr 8:50,233,917...50,254,507 		JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 OMIM
ClinVar		 PMID:8151641 PMID:9536098 PMID:11668108 PMID:15052268 PMID:16896922 More... NCBI chr 3:53,220,199...53,239,738
Ensembl chr 3:53,220,194...53,239,732 		JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 OMIM
ClinVar		 PMID:20190753 PMID:25741868 PMID:25741916 PMID:28492532 PMID:31479177 NCBI chr 8:50,233,162...50,258,030
Ensembl chr 8:50,233,917...50,254,507 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    syndrome 10064
      ARC syndrome 4
        arthrogryposis, renal dysfunction, and cholestasis 1 4
        arthrogryposis, renal dysfunction, and cholestasis 2 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        peripheral nervous system disease 4038
          neuropathy 3843
            neuromuscular disease 3017
              muscular disease 2130
                arthrogryposis multiplex congenita 243
                  ARC syndrome 4
                    arthrogryposis, renal dysfunction, and cholestasis 1 4
                    arthrogryposis, renal dysfunction, and cholestasis 2 1
paths to the root