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ONTOLOGY REPORT - ANNOTATIONS


Term:photosensitive trichothiodystrophy 1
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Accession:DOID:0111873 term browser browse the term
Definition:A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in ERCC2 on chromosome 19q13.32. (DO)
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
 xref: NCI:C156433
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
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 16021
    syndrome 6144
      ectodermal dysplasia 251
        photosensitive trichothiodystrophy 1 3
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            disease of mental health 5776
              developmental disorder of mental health 2917
                specific developmental disorder 2099
                  intellectual disability 1940
                    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.