Term Name: | arthrogryposis, renal dysfunction, and cholestasis 1 |
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Synonyms: | ARCS1 |
Definition: | An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VPS33B on 15q26.1. |
Ontology: | Human Disease [DOID:0111353] ( DOID:0111353 ) |