ONTOLOGY REPORT - ANNOTATIONS


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
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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 14920
    syndrome 4714
      Arts syndrome 2
Path 2
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  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        central nervous system disease 6948
          brain disease 6454
            disease of mental health 4346
              developmental disorder of mental health 2600
                specific developmental disorder 1765
                  intellectual disability 1594
                    syndromic intellectual disability 665
                      Mental Retardation, X-Linked 651
                        syndromic X-linked intellectual disability 582
                          Arts syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.