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Metadata
ID DOID:0111354
Name arthrogryposis, renal dysfunction, and cholestasis 2
Definition An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3.
https://www.ncbi.nlm.nih.gov/pubmed/20190753
Xrefs

OMIM:613404

Synonyms

ARCS2 [EXACT]

Parent Relationships

is_a ARC syndrome

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