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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 GTF2E2 on chromosome 8p12. (DO)
Synonyms:exact_synonym: TTD6;   trichothiodystrophy-6
 primary_id: OMIM:616943
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:616943 ClinVar
OMIM
PMID:26996949 NCBI chr16:62,113,846...62,164,339
Ensembl chr16:62,113,854...62,164,135
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    syndrome 6993
      trichothiodystrophy 9
        nonphotosensitive trichothiodystrophy 4
          nonphotosensitive trichothiodystrophy 6 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        sensory system disease 5163
          skin disease 2751
            Skin Abnormalities 658
              trichothiodystrophy 9
                nonphotosensitive trichothiodystrophy 4
                  nonphotosensitive trichothiodystrophy 6 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.