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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:photosensitive trichothiodystrophy 3
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Accession:DOID:0111871 term browser browse the term
Definition:A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in GTF2H5 on chromosome 6q25.3. (DO)
Synonyms:exact_synonym: TTD3;   TTDA;   trichothiodystrophy, complementation group A
 primary_id: OMIM:616395
 xref: NCI:C173099
For additional species annotation, visit the Alliance of Genome Resources.



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photosensitive trichothiodystrophy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gtf2h5 general transcription factor IIH subunit 5 ISO ClinVar Annotator: match by term: Trichothiodystrophy 3, photosensitive OMIM
ClinVar
PMID:15220921 PMID:24986372 PMID:25620205 PMID:25741868 PMID:28492532 More... NCBI chr 1:46,656,804...46,663,512
Ensembl chr 1:46,656,859...46,664,939
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    syndrome 9705
      trichothiodystrophy 11
        photosensitive trichothiodystrophy 4
          photosensitive trichothiodystrophy 3 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        sensory system disease 6409
          skin disease 3783
            dermatitis 464
              photosensitivity disease 31
                photosensitive trichothiodystrophy 4
                  photosensitive trichothiodystrophy 3 1
paths to the root