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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: MIM:618971


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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:25741868 PMID:32442410 NCBI chr 1:169,723,306...170,334,846
Ensembl chr 1:169,729,194...170,277,386 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    syndrome 11271
      Tolchin-Le Caignec Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      nervous system disease 14334
        central nervous system disease 12604
          brain disease 11833
            disease of mental health 8425
              developmental disorder of mental health 5646
                specific developmental disorder 4603
                  intellectual disability 4382
                    Tolchin-Le Caignec Syndrome 1
paths to the root