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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 2
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Accession:DOID:0111354 term browser browse the term
Definition:An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3. (DO)
Synonyms:exact_synonym: ARCS2
 primary_id: OMIM:613404


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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 17774
    syndrome 10062
      ARC syndrome 4
        arthrogryposis, renal dysfunction, and cholestasis 2 1
Path 2
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      nervous system disease 13207
        peripheral nervous system disease 4035
          neuropathy 3840
            neuromuscular disease 3016
              muscular disease 2129
                arthrogryposis multiplex congenita 243
                  ARC syndrome 4
                    arthrogryposis, renal dysfunction, and cholestasis 2 1
paths to the root