Arc Syndrome
Disease ID: disease_node_20360
Connections displayed (default: 10).
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| Dbxref | MIM:PS208085, ORDO:2697 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS, Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome, Arthrogryposis-renal dysfunction-cholestasis |
| Doid Label | ARC syndrome |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20360 |
| Doid Id | DOID_0050763 |
| Label | Arc Syndrome |
- Incoming r'ship
SUBCLASS_OFto/from Arthrogryposis, Renal Dysfunction, And Cholestasis 2(ID:disease_node_20361) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Arthrogryposis, Renal Dysfunction, And Cholestasis 1(ID:disease_node_20362) (Disease)