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Term:Trichothiodystrophy Syndromes
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Accession:DOID:9008317 term browser browse the term
Definition:Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene.
Synonyms:exact_synonym: IBIDS Syndromes;   IBIDS syndrome;   Ichthyosiform Erythroderma with Hair Abnormality and Mental and Growth Retardation;   Ichthyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature;   PIBIDS Syndrome;   PIBIDS Syndromes;   POLLITT SYNDROME;   TTD4;   TTDN1;   Trichothiodystrophies;   Trichothiodystrophy;   Trichothiodystrophy Syndrome;   trichothiodystrophy syndromes;   trichothiodystrophy with congenital ichtyosis
 primary_id: MESH:D054463
 alt_id: RDO:0001856
For additional species annotation, visit the Alliance of Genome Resources.


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Trichothiodystrophy Syndromes 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
Congenital Ichthyosis with 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
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
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: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:11554173
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:8554872
RGD:13592920
G Gtf2h5 general transcription factor IIH subunit 5 JBrowse link 1 46,978,345 46,985,032 RGD:8554872
G Mplkip M-phase specific PLK1 interacting protein JBrowse link 17 49,955,060 49,990,982 RGD:8554872
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 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 18 25,037,668 25,068,380 RGD:7240710
G Gtf2h5 general transcription factor IIH subunit 5 JBrowse link 1 46,978,345 46,985,032 RGD:7240710
RGD:8554872
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 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:8554872
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 14025
    syndrome 4467
      Trichothiodystrophy Syndromes 8
        Congenital Ichthyosis with Trichothiodystrophy + 4
        HELIX syndrome 1
        Sabinas Brittle Hair Syndrome 0
        Trichorrhexis Nodosa Syndrome 0
        nonphotosensitive trichothiodystrophy + 5
        photosensitive trichothiodystrophy + 5
Path 2
Term Annotations click to browse term
  disease 14025
    disease of anatomical entity 13238
      nervous system disease 8245
        sensory system disease 4016
          skin disease 2243
            Genetic Skin Diseases 567
              Trichothiodystrophy Syndromes 8
                Congenital Ichthyosis with Trichothiodystrophy + 4
                HELIX syndrome 1
                Sabinas Brittle Hair Syndrome 0
                Trichorrhexis Nodosa Syndrome 0
                nonphotosensitive trichothiodystrophy + 5
                photosensitive trichothiodystrophy + 5
paths to the root