ZFIN Human Disease: ARC syndrome

OBO ID: DOID:0050763

OBO ID: DOID:0050763

Term Name:	ARC syndrome	Search Ontology:
Synonyms:	Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS Arthrogryposis-renal dysfunction-cholestasis
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)
References:	OMIM:PS208085 ORDO:2697
Ontology:	Human Disease (DOID:0050763)

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms
has subtype:	arthrogryposis, renal dysfunction, and cholestasis 1 arthrogryposis, renal dysfunction, and cholestasis 2 arthrogryposis, renal dysfunction, and cholestasis 1 arthrogryposis, renal dysfunction, and cholestasis 2 Show first 5 Terms

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Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (1)

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