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ONTOLOGY REPORT - ANNOTATIONS


Term:photosensitive trichothiodystrophy
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Accession:DOID:2960 term browser browse the term
Definition:A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight. (DO)
Synonyms:exact_synonym: IBIDS syndrome;   TTD-P;   Tay syndrome;   photosensitive trichothiodystrophies;   sulfur-deficient brittle hair syndrome;   trichothiodystrophy with congenital ichthyosis;   trichothiodystrophy with sun sensitivity
 primary_id: MESH:C564733
 xref: NCI:C4924
For additional species annotation, visit the Alliance of Genome Resources.


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photosensitive trichothiodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:13592920
photosensitive trichothiodystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:7240710
RGD:8554872
G Gtf2h5 general transcription factor IIH subunit 5 JBrowse link 1 46,978,345 46,985,032 RGD:7246919
G Mplkip M-phase specific PLK1 interacting protein JBrowse link 17 49,955,060 49,990,982 RGD:8554872
photosensitive trichothiodystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 18 25,037,668 25,068,380 RGD:8554872
RGD:7240710
RGD:13207496
photosensitive trichothiodystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gtf2h5 general transcription factor IIH subunit 5 JBrowse link 1 46,978,345 46,985,032 RGD:7240710
RGD:8554872
primary hyperoxaluria type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoga1 4-hydroxy-2-oxoglutarate aldolase 1 JBrowse link 1 261,291,742 261,319,743 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16021
    syndrome 6144
      trichothiodystrophy 9
        photosensitive trichothiodystrophy 5
          photosensitive trichothiodystrophy 1 3
          photosensitive trichothiodystrophy 2 1
          photosensitive trichothiodystrophy 3 1
          primary hyperoxaluria type 3 1
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        sensory system disease 4979
          skin disease 2654
            Genetic Skin Diseases 884
              trichothiodystrophy 9
                photosensitive trichothiodystrophy 5
                  photosensitive trichothiodystrophy 1 3
                  photosensitive trichothiodystrophy 2 1
                  photosensitive trichothiodystrophy 3 1
                  primary hyperoxaluria type 3 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.