| 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 | |
| Synonyms |
ARCS2 [EXACT] |
| Parent Relationships |
is_a ARC syndrome |