ONTOLOGY REPORT - ANNOTATIONS


Term:Photosensitive Trichothiodystrophy 1
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Accession:DOID:9003485 term browser browse the term
Synonyms:exact_synonym: ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION;   PIBIDS syndrome;   TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;   TTD1;   TTDP;   Trichothiodystrophy, Type 1
 primary_id: MESH:C564734
 alt_id: OMIM:601675;   RDO:0008828;   RDO:0013597
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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
RGD:8554872
G Mplkip M-phase specific PLK1 interacting protein JBrowse link 17 49,955,060 49,990,982 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      ectodermal dysplasia 142
        Photosensitive Trichothiodystrophy 1 3
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              developmental disorder of mental health 2595
                specific developmental disorder 1330
                  intellectual disability 1158
                    Photosensitive Trichothiodystrophy 1 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.