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ONTOLOGY REPORT - ANNOTATIONS


Term:trichothiodystrophy
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Accession:DOID:0111866 term browser browse the term
Definition:A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections. (DO)
Synonyms:exact_synonym: IBIDS syndrome;   IBIDS syndromes;   Ichthyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature;   PIBIDS Syndrome;   PIBIDS syndromes;   Pollitt syndrome;   TTD;   TTD4;   TTDN1;   Trichothiodystrophies;   ichthyosiform erythroderma with hair abnormality and mental and growth retardation;   trichothiodystrophy syndrome;   trichothiodystrophy syndromes;   trichothiodystrophy with congenital ichtyosis
 primary_id: MESH:D054463
 xref: OMIM:PS601675;   ORDO:33364
For additional species annotation, visit the Alliance of Genome Resources.


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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:10401081
RGD:8554872
RGD:12880441
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 18 25,037,668 25,068,380 RGD:13207496
G Mplkip M-phase specific PLK1 interacting protein JBrowse link 17 49,955,060 49,990,982 RGD:11554173
HELIX syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cldn10 claudin 10 JBrowse link 15 104,026,590 104,115,748 RGD:8554872
RGD:7240710
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
RGD:8554872
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
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
        Congenital Ichthyosis with Trichothiodystrophy + 3
        HELIX syndrome 1
        nonphotosensitive trichothiodystrophy + 4
        photosensitive trichothiodystrophy + 5
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
                Congenital Ichthyosis with Trichothiodystrophy + 3
                HELIX syndrome 1
                nonphotosensitive trichothiodystrophy + 4
                photosensitive trichothiodystrophy + 5
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.