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
- 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
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- GARD:8756
- MESH:C535388
- MIM:301835
- Ontology
- Human Disease ( DOID:0050647 )
- is a type of
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Genes Involved
Zebrafish Models