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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain 2 ISO DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) RGD PMID:17701896 RGD:12910562 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
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G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by OMIM:301835
ClinVar Annotator: match by term: Arts syndrome
OMIM
ClinVar
PMID:8498830, PMID:17701896, PMID:22246954, PMID:24033266, PMID:24528855, PMID:25741868, PMID:28492532 NCBI chr  X:111,798,233...111,820,270
Ensembl chr  X:111,798,233...111,820,266
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Arts syndrome 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    syndromic intellectual disability 684
                      Mental Retardation, X-Linked 661
                        syndromic X-linked intellectual disability 585
                          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.