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Disease Ontology Browser
Arts syndrome (DOID:0050647)
Alliance: disease page
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
Alt IDs: OMIM:301835, MESH:C535388, ORDO:1187, UMLS_CUI:C0796028
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory