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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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;   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


show annotations for term's descendants           Sort by:
trichothiodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO DNA:missense mutation: :p.R722W (mouse)
ClinVar Annotator: match by term: PIBIDS syndrome | ClinVar Annotator: match by term: Trichothiodystrophy		 ClinVar
RGD		 PMID:7585650 PMID:7920640 PMID:8571952 PMID:9195225 PMID:9238033 More... RGD:10401081, RGD:12880441 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO DNA:missense mutation:cds:p.T119P (human) RGD PMID:9012405 RGD:13207496 NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329 		JBrowse link
G Mplkip M-phase specific PLK1 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:47,373,624...47,376,199
Ensembl chr17:47,373,845...47,376,204 		JBrowse link
Congenital Ichthyosis with Trichothiodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS ClinVar PMID:7585650 PMID:7920640 PMID:8571952 PMID:9195225 PMID:9238033 More... NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
HELIX syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn10 claudin 10 ISO ClinVar Annotator: match by term: HELIX syndrome OMIM
ClinVar		 PMID:25741868 PMID:25741903 PMID:28686597 PMID:28771254 PMID:32860008 NCBI chr15:95,862,785...95,954,526
Ensembl chr15:95,862,760...95,954,526 		JBrowse link
nonphotosensitive trichothiodystrophy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mplkip M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 4, nonphotosensitive OMIM
ClinVar		 PMID:1634754 PMID:2333887 PMID:4847854 PMID:5645693 PMID:15645389 More... NCBI chr17:47,373,624...47,376,199
Ensembl chr17:47,373,845...47,376,204 		JBrowse link
nonphotosensitive trichothiodystrophy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Trichothiodystrophy 5, nonphotosensitive ClinVar PMID:25741868 NCBI chr  X:116,424,223...116,427,875
Ensembl chr  X:116,424,223...116,428,633 		JBrowse link
G Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: RNF113A-related condition | ClinVar Annotator: match by term: Trichothiodystrophy 5, nonphotosensitive
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25612912 PMID:25741868 PMID:28492532 PMID:29144457 PMID:31793730 More... NCBI chr  X:116,427,941...116,429,164
Ensembl chr  X:116,427,684...116,433,762 		JBrowse link
nonphotosensitive trichothiodystrophy 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gtf2e2 general transcription factor IIE subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Trichothiodystrophy 6, nonphotosensitive		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:26996949 PMID:28492532 NCBI chr16:58,399,307...58,449,467
Ensembl chr16:58,399,107...58,449,371 		JBrowse link
nonphotosensitive trichothiodystrophy 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tars1 threonyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Trichothiodystrophy 7, nonphotosensitive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31374204 NCBI chr 2:60,368,893...60,387,715
Ensembl chr 2:60,367,796...60,387,717 		JBrowse link
Nonphotosensitive Trichothiodystrophy 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Trichothiodystrophy 8, nonphotosensitive OMIM
ClinVar		 PMID:6492094 PMID:25741868 PMID:28492532 PMID:33909043 NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147 		JBrowse link
Nonphotosensitive Trichothiodystrophy 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Trichothiodystrophy 9, nonphotosensitive OMIM
ClinVar		 PMID:28492532 PMID:33909043 NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495 		JBrowse link
photosensitive trichothiodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISS
ISO		 OMIM:601675
ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS		 MouseDO
ClinVar		 PMID:7585650 PMID:7920640 PMID:8571952 PMID:9195225 PMID:9238033 More... NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
photosensitive trichothiodystrophy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9195225 More... NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Gtf2h5 general transcription factor IIH subunit 5 ISO RGD PMID:22824526 RGD:7246919 NCBI chr 1:46,656,804...46,663,512
Ensembl chr 1:46,656,859...46,664,939 		JBrowse link
G Mplkip M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr17:47,373,624...47,376,199
Ensembl chr17:47,373,845...47,376,204 		JBrowse link
photosensitive trichothiodystrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO DNA:missense mutation:cds:p.T119P (human)
ClinVar Annotator: match by term: Trichothiodystrophy 2, photosensitive
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:9012405 PMID:16947863 PMID:24728327 PMID:25741868 PMID:26556299 More... RGD:13207496 NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329 		JBrowse link
photosensitive trichothiodystrophy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gtf2h5 general transcription factor IIH subunit 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Trichothiodystrophy 3, photosensitive		 OMIM
CTD
ClinVar		 PMID:15220921 PMID:24986372 PMID:25620205 PMID:25741868 PMID:28492532 More... NCBI chr 1:46,656,804...46,663,512
Ensembl chr 1:46,656,859...46,664,939 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      trichothiodystrophy 11
        Congenital Ichthyosis with Trichothiodystrophy + 3
        HELIX syndrome 1
        nonphotosensitive trichothiodystrophy + 7
        photosensitive trichothiodystrophy + 4
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              Genetic Skin Diseases 1850
                trichothiodystrophy 11
                  Congenital Ichthyosis with Trichothiodystrophy + 3
                  HELIX syndrome 1
                  nonphotosensitive trichothiodystrophy + 7
                  photosensitive trichothiodystrophy + 4
paths to the root