WormBase Tree Display for DO_term: DOID:0050763
expand all nodes | collapse all nodes | view schema
| DOID:0050763 | Name | ARC syndrome | |
|---|---|---|---|
| Status | Valid | ||
| Definition | A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3. | ||
| Synonym | Exact | ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS | |
| Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome | |||
| Arthrogryposis-renal dysfunction-cholestasis | |||
| Parent | Is_a | DOID:225 | |
| DOID:0050737 | |||
| Child | Is | DOID:0111353 | |
| DOID:0111354 | |||
| Disease_model_annotation | WBDOannot00000535 | ||
| Attribute_of | Gene_by_biology | WBGene00016960 |
