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Term:Arts syndrome
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Accession:DOID:0050647 term browser browse the term
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. (DO)
Synonyms:exact_synonym: ARTS;   MRXS18;   MRXSARTS;   fatal X-linked ataxia with deafness and loss of vision;   lethal ataxia with deafness and optic atrophy;   lethal ataxia-deafness-optic atrophy;   syndromic X-linked mental retardation 18;   syndromic X-linked mental retardation Arts type
 primary_id: MESH:C535388
 alt_id: OMIM:301835;   RDO:0000479
 xref: GARD:8756;   ORDO:1187
For additional species annotation, visit the Alliance of Genome Resources.


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Arts syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:12910562
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 111,798,233 111,820,270 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
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  disease 14759
    syndrome 4210
      Arts syndrome 2
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    syndromic intellectual disability 211
                      Mental Retardation, X-Linked 198
                        syndromic X-linked intellectual disability 45
                          Arts syndrome 2
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