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Statements

Subject Item

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n3:ECO_0007638 n3:ECO_0007645

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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.

obo:hasDbXref

url:https://www.ncbi.nlm.nih.gov/pubmed/16896922 url:https://www.ncbi.nlm.nih.gov/pubmed/22753090 url:https://www.ncbi.nlm.nih.gov/pubmed/24415890 url:http://en.wikipedia.org/wiki/Arthrogryposis%E2%80%93renal_dysfunction%E2%80%93cholestasis_syndrome