OBO ID: DOID:0050763 |
Term Name: | ARC syndrome | Search Ontology: | |
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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. (4) | ||
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Ontology: | Human Disease ( DOID:0050763 ) |
OTHER ARC syndrome PAGES
GENES INVOLVED
No data available
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS (1)
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