| Metadata | |
|---|---|
| ID | DOID:0050647 |
| Name | Arts syndrome |
| 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. http://ghr.nlm.nih.gov/condition/arts-syndrome, http://www.ncbi.nlm.nih.gov/books/NBK2591/, http://www.omim.org/entry/301835, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1187&lng=EN, https://www.ncbi.nlm.nih.gov/pubmed/20301738 |
| Xrefs |
SNOMEDCT_US_2023_03_01:702441001 |
| Subsets |
DO_rare_slim |
| Synonyms |
ARTS [EXACT] fatal X-linked ataxia with deafness and loss of vision [EXACT] Lethal ataxia with deafness and optic atrophy [EXACT] MRXS18 [EXACT] MRXSARTS [EXACT] syndromic X-linked mental retardation 18 [EXACT] syndromic X-linked mental retardation Arts type [EXACT] |
| Parent Relationships |