| Metadata | |
|---|---|
| ID | DOID:0050763 |
| Name | ARC syndrome |
| 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. http://en.wikipedia.org/wiki/Arthrogryposis%E2%80%93renal_dysfunction%E2%80%93cholestasis_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/16896922, https://www.ncbi.nlm.nih.gov/pubmed/22753090, https://www.ncbi.nlm.nih.gov/pubmed/24415890 |
| Xrefs | |
| Subsets |
DO_FlyBase_slim DO_rare_slim |
| Synonyms |
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome [EXACT] ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS [EXACT] Arthrogryposis-renal dysfunction-cholestasis [EXACT] |
| Parent Relationships |
is_a syndrome |