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ONTOLOGY REPORT - ANNOTATIONS


Term:nonphotosensitive trichothiodystrophy
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Accession:DOID:0050528 term browser browse the term
Definition:An autosomal recessive disease that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene. (DO)
Synonyms:exact_synonym: ABHS;   Amish Brittle Hair Brain Syndrome;   Amish Brittle Hair Syndrome;   BIDS;   BIDS BRITTLE HAIR-IMPAIRED INTELLECT-DECREASED FERTILITY-SHORT STATURE SYNDROME;   BIDS Syndrome;   BIDS Syndromes;   BRITTLE HAIR-IMPAIRED INTELLECT-DECREASED FERTILITY-SHORT STATURE SYNDROME;   Brittle Hair Intellectual Impairment Decreased Fertility Short Stature Syndrome;   Hair Brain Syndrome;   Hair-Brain Syndromes;   Nonphotosensitive 1 Trichothiodystrophies;   Nonphotosensitive 1 Trichothiodystrophy
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nonphotosensitive 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:8554872
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 18 25,037,668 25,068,380 RGD:8554872
G Mplkip M-phase specific PLK1 interacting protein JBrowse link 17 49,955,060 49,990,982 RGD:8554872
RGD:13592920
Nonphotosensitive Trichothiodystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mplkip M-phase specific PLK1 interacting protein JBrowse link 17 49,955,060 49,990,982 RGD:7240710
Nonphotosensitive Trichothiodystrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf113a1 ring finger protein 113A1 JBrowse link X 123,806,922 123,808,049 RGD:7240710
RGD:8554872
Nonphotosensitive Trichothiodystrophy 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gtf2e2 general transcription factor IIE subunit 2 JBrowse link 16 62,113,846 62,164,339 RGD:8554872
RGD:7240710
Nonphotosensitive Trichothiodystrophy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tars1 threonyl-tRNA synthetase 1 JBrowse link 2 61,394,632 61,414,115 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Trichothiodystrophy Syndromes 9
        nonphotosensitive trichothiodystrophy 6
          Nonphotosensitive Trichothiodystrophy 4 1
          Nonphotosensitive Trichothiodystrophy 5 1
          Nonphotosensitive Trichothiodystrophy 6 1
          Nonphotosensitive Trichothiodystrophy 7 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                nonphotosensitive trichothiodystrophy 6
                  Nonphotosensitive Trichothiodystrophy 4 1
                  Nonphotosensitive Trichothiodystrophy 5 1
                  Nonphotosensitive Trichothiodystrophy 6 1
                  Nonphotosensitive Trichothiodystrophy 7 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.