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DOID:0050763 - ARC syndrome
Disease Ontology 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. It has material basis in homozygous or compound heterozygous mutation in the VPS33B gene or has masterial basis in homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3.
Synonyms: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS, Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome, Arthrogryposis-renal dysfunction-cholestasis
Echinobase Genes
:
vipas39,
vps33b
| OMIM:208085 - arthrogryposis, renal dysfunction, and cholestasis 1; arcs1 |
| OMIM:613404 - arthrogryposis, renal dysfunction, and cholestasis 2; arcs2 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
syndrome (is_a)