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General Information
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| Term |
ARC syndrome |
ID (Ontology) |
DOID:0050763 (Human Disease) |
| 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. |
| Also Known As |
"Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome" ; "ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS" ; "Arthrogryposis-renal dysfunction-cholestasis" |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 2 | | Human Disease Models (FBhh) | DOID | 1 |
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Alleles | Genes | Human Disease Models |
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ARC syndrome | 2 | 1 | 1 | model of | ARC syndrome | 2 | -- | -- |
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Relationships