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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: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
For additional species annotation, visit the Alliance of Genome Resources.



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arthrogryposis, renal dysfunction, and cholestasis 1 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 1 ClinVar PMID:25741868 PMID:31319225 NCBI chr 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117
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:11668108 PMID:15052268 PMID:16896922 PMID:17994566 More... NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    syndrome 8148
      ARC syndrome 2
        arthrogryposis, renal dysfunction, and cholestasis 1 2
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        peripheral nervous system disease 2557
          neuropathy 2354
            neuromuscular disease 1875
              muscular disease 1280
                arthrogryposis multiplex congenita 116
                  ARC syndrome 2
                    arthrogryposis, renal dysfunction, and cholestasis 1 2
paths to the root