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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

OMIM:208085

OMIM:613404

OMIM:PS208085

ORDO:2697

Subsets

DO_FlyBase_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

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