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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: MIM:208085

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show annotations for term's descendants           Sort by:
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 chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761 		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 chrNW_004955438:1,320,862...1,351,344
Ensembl chrNW_004955438:1,321,845...1,347,535 		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 chrNW_004955416:15,049,849...15,071,108
Ensembl chrNW_004955416:15,048,106...15,071,102 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14320
    syndrome 9739
      ARC syndrome 3
        arthrogryposis, renal dysfunction, and cholestasis 1 3
Path 2
Term Annotations click to browse term
  disease 14320
    disease of anatomical entity 14026
      nervous system disease 12344
        peripheral nervous system disease 3979
          neuropathy 3799
            neuromuscular disease 2982
              muscular disease 2072
                arthrogryposis multiplex congenita 238
                  ARC syndrome 3
                    arthrogryposis, renal dysfunction, and cholestasis 1 3
paths to the root