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About:
arthrogryposis, renal dysfunction, and cholestasis 2
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An Entity of Type :
owl:Class
, within Data Space :
linkeddata.uriburner.com:28898
associated with source
document(s)
New Facet based on Instances of this Class
Attributes
Values
type
Class
subClassOf
ARC syndrome
nodeID://b50944646
label
arthrogryposis, renal dysfunction, and cholestasis 2
described by
https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id
DOID:0111354
database_cross_reference
OMIM:613404
has_exact_synonym
ARCS2
(en)
has_obo_namespace
disease_ontology
http://purl.obolib...g/obo/IAO_0000115
An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3.
is
topic
of
Human Disease Ontology
is
annotatedSource
of
nodeID://b50944647
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