About: ARC syndrome

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal recessive disease syndrome nodeID://b50937547
label	ARC syndrome
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0050763
created_by	lschriml
creation_date	2013-01-17T12:46:38Z
database_cross_reference	OMIM:PS208085 ORDO:2697
has_exact_synonym	ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS (en) Arthrogryposis-renal dysfunction-cholestasis (en) Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome (en)
has_obo_namespace	disease_ontology
in_subset	DO_FlyBase_slim
http://purl.obolib...g/obo/IAO_0000115	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.
is subClassOf of	arthrogryposis, renal dysfunction, and cholestasis 1 arthrogryposis, renal dysfunction, and cholestasis 2
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50937548

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