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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:RADIO-TARTAGLIA SYNDROME
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Accession:DOID:9006249 term browser browse the term
Definition:This disease is a neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, hypotonia, mild motor difficulties, and craniofacial dysmorphism.
Synonyms:exact_synonym: RATARS
 primary_id: OMIM:619312
For additional species annotation, visit the Alliance of Genome Resources.



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RADIO-TARTAGLIA SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spen spen family transcriptional repressor ISO ClinVar Annotator: match by term: RADIO-TARTAGLIA SYNDROME ClinVar
OMIM
PMID:25741868 PMID:33596411 NCBI chr 5:153,775,287...153,848,677
Ensembl chr 5:153,776,234...153,848,811
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      RADIO-TARTAGLIA SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        central nervous system disease 10402
          brain disease 9763
            disease of mental health 7060
              developmental disorder of mental health 4403
                specific developmental disorder 3662
                  intellectual disability 3473
                    RADIO-TARTAGLIA SYNDROME 1
paths to the root