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Summary Literature (0)
DOID:0050647 - Arts syndrome

Disease Ontology Definition:An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene.

Synonyms: ARTS, fatal X-linked ataxia with deafness and loss of vision, Lethal ataxia with deafness and optic atrophy, MRXS18, MRXSARTS, syndromic X-linked mental retardation 18, syndromic X-linked mental retardation Arts type

Xenbase Genes : prps1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010533 - Arts syndrome


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): syndromic X-linked intellectual disability (is_a)