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Ontology Browser

Term:
arthrogryposis, renal dysfunction, and cholestasis 1 (DOID:0111353)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
ARC syndrome +     
arthrogryposis, renal dysfunction, and cholestasis 1  
An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VPS33B on 15q26.1. (DO)
arthrogryposis, renal dysfunction, and cholestasis 2  

Synonyms
Exact Synonyms: ARCS1
Primary IDs: OMIM:208085
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/15052268 "DO" "DO"

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