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Disease Ontology Browser
ARC syndrome (DOID:0050763)
Alliance: disease page
Synonyms: Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome; ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS; Arthrogryposis-renal dysfunction-cholestasis
Alt IDs: OMIM:PS208085, ORDO:2697
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.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory