"Lethal ataxia with deafness and optic atrophy"@en . "DOID:0050647"^^ . "MESH:C535388"^^ . "syndromic X-linked mental retardation 18"@en . "ORDO:1187"^^ . "ARTS"@en . "fatal X-linked ataxia with deafness and loss of vision"@en . "MRXS18"@en . . . "syndromic X-linked mental retardation Arts type"@en . "Arts syndrome"^^ . "OMIM:301835"^^ . "UMLS_CUI:C0796028"^^ . "MRXSARTS"@en . "GARD:8756"^^ . "SNOMEDCT_US_2021_09_01:702441001"^^ . "OMIM mapping confirmed by DO. [SN]."^^ . . "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."^^ . "disease_ontology"^^ .