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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:nonphotosensitive trichothiodystrophy 6
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Accession:DOID:0111872 term browser browse the term
Definition:A nonphotosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2E2 gene on chromosome 8p12. (DO)
Synonyms:exact_synonym: TTD6;   trichothiodystrophy-6
 primary_id: OMIM:616943


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nonphotosensitive trichothiodystrophy 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gtf2e2 general transcription factor IIE subunit 2 ISO ClinVar Annotator: match by term: Trichothiodystrophy 6, nonphotosensitive
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:26996949 PMID:28492532 NCBI chr16:58,399,307...58,449,467
Ensembl chr16:58,399,107...58,449,371 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      trichothiodystrophy 11
        nonphotosensitive trichothiodystrophy 7
          nonphotosensitive trichothiodystrophy 6 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            skin disease 3968
              Genetic Skin Diseases 1852
                trichothiodystrophy 11
                  nonphotosensitive trichothiodystrophy 7
                    nonphotosensitive trichothiodystrophy 6 1
paths to the root