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| General Information | |||
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| Term | Arts syndrome | ID (Ontology) | DOID:0050647 (Human Disease) |
| 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. | ||
| Also Known As | "ARTS" ; "fatal X-linked ataxia with deafness and loss of vision" ; "Lethal ataxia with deafness and optic atrophy" (for all, see Synonyms field below) | ||
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| DO.org | |||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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X-linked monogenic disease_________ syndromic intellectual disability__| syndromic X-linked intellectual disability |__Arts syndrome 1 rec. |
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| Is a | syndromic X-linked intellectual disability | ||
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External Crossreferences & Linkouts
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GARD:8756 MESH:C535388 MIM:301835 ORDO:1187 SNOMEDCT_US_2023_03_01:702441001 UMLS_CUI:C0796028 |
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