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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:Tolchin-Le Caignec Syndrome
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Accession:DOID:9005634 term browser browse the term
Definition:A developmental disorder characterized by mildly to moderately impaired intellectual development and behavioral problems, such as autism, ADHD, labile mood, and aggressive episodes. Many patients have bony abnormalities. (OMIM)
Synonyms:exact_synonym: TOLCAS;   intellectual developmental disorder with behavioral abnormalities and variable bone defects
 primary_id: OMIM:618971
For additional species annotation, visit the Alliance of Genome Resources.


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Tolchin-Le Caignec Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox6 SRY-box transcription factor 6 ISO ClinVar Annotator: match by term: TOLCHIN-LE CAIGNEC SYNDROME OMIM
ClinVar
PMID:32442410 NCBI chr 1:169,723,306...170,334,846
Ensembl chr 1:169,729,194...170,277,386
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      Tolchin-Le Caignec Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          brain disease 9736
            disease of mental health 7038
              developmental disorder of mental health 4374
                specific developmental disorder 3633
                  intellectual disability 3444
                    Tolchin-Le Caignec Syndrome 1
paths to the root