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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;   TTD1;   TTDP;   Trichothiodystrophy, Type 1
 primary_id: MESH:C564734
 alt_id: OMIM:601675;   RDO:0008828;   RDO:0013597
For additional species annotation, visit the Alliance of Genome Resources.


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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 15602
    syndrome 5231
      ectodermal dysplasia 251
        Photosensitive Trichothiodystrophy 1 3
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        central nervous system disease 8136
          brain disease 7608
            disease of mental health 5547
              developmental disorder of mental health 2725
                specific developmental disorder 1893
                  intellectual disability 1718
                    Photosensitive Trichothiodystrophy 1 3
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.