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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 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Arts syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE | ClinVar Annotator: match by term: X-linked fatal ataxia with deafness and loss of vision OMIM
ClinVar
PMID:1664177 PMID:6243137 PMID:8253776 PMID:8498830 PMID:17701896 More... NCBI chr  X:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      Arts syndrome 2
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          brain disease 10539
            disease of mental health 7449
              developmental disorder of mental health 4824
                specific developmental disorder 4065
                  intellectual disability 3878
                    X-Linked Intellectual Developmental Disorders 750
                      syndromic X-linked intellectual disability 614
                        Arts syndrome 2
paths to the root