| Metadata | |
|---|---|
| ID | DOID:0111353 |
| Name | arthrogryposis, renal dysfunction, and cholestasis 1 |
| Definition | An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VPS33B on 15q26.1. https://www.ncbi.nlm.nih.gov/pubmed/15052268 |
| Xrefs | |
| Synonyms |
ARCS1 [EXACT] |
| Parent Relationships |
is_a ARC syndrome |