Search Ontology:
Human Disease

Arts syndrome

Term ID
DOID:0050647
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
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. (5)
References
Ontology
Human Disease   ( DOID:0050647 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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