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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: MIM:301835
 xref: GARD:8756;   ORDO:1187


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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 2:220,391,417...220,411,588
Ensembl chr 2:220,391,888...220,411,591 		JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:1664177 PMID:3278127 PMID:6243137 PMID:7593598 PMID:8253776 More... NCBI chr  X:108,920,663...108,942,713
Ensembl chr  X:108,920,651...108,942,711 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    syndrome 11437
      Arts syndrome 2
Path 2
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18459
      nervous system disease 14371
        central nervous system disease 12649
          brain disease 11869
            disease of mental health 8487
              developmental disorder of mental health 5666
                specific developmental disorder 4642
                  intellectual disability 4408
                    X-Linked Intellectual Developmental Disorders 828
                      syndromic X-linked intellectual disability 619
                        Arts syndrome 2
paths to the root