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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;   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.



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: Trichothiodystrophy
ClinVar Annotator: match by term: PIBIDS syndrome
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
ClinVar Annotator: match by term: HELIX syndrome
ClinVar
OMIM
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, nonphotosensitive 1 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 Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: Trichothiodystrophy 5, nonphotosensitive OMIM
ClinVar
PMID:25612912 PMID:25741868 PMID:29144457 PMID:31793730 PMID:31880405 NCBI chr  X:116,428,037...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 ClinVar Annotator: match by OMIM:616943
ClinVar Annotator: match by term: Trichothiodystrophy 6, nonphotosensitive
ClinVar
OMIM
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:31374204 NCBI chr 2:60,368,251...60,387,733
Ensembl chr 2:60,367,796...60,387,717
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
ClinVar Annotator: match by OMIM:601675
OMIM
ClinVar
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 ClinVar Annotator: match by term: Trichothiodystrophy 2, photosensitive
DNA:missense mutation:cds:p.T119P (human)
ClinVar
OMIM
RGD
PMID:9012405 PMID:24728327 PMID:25741868 PMID:28492532 PMID:30414346 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 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Trichothiodystrophy, complementation group A 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
G Gtf2h5 general transcription factor IIH subunit 5 ISO ClinVar Annotator: match by term: Trichothiodystrophy 3, photosensitive
ClinVar Annotator: match by term: Trichothiodystrophy, complementation group a
OMIM
ClinVar
PMID:15220921 PMID:24986372 PMID:25741868 PMID:30359777 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 17289
    syndrome 8166
      trichothiodystrophy 8
        Congenital Ichthyosis with Trichothiodystrophy + 3
        HELIX syndrome 1
        nonphotosensitive trichothiodystrophy + 4
        photosensitive trichothiodystrophy + 4
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          skin disease 2993
            Genetic Skin Diseases 1051
              trichothiodystrophy 8
                Congenital Ichthyosis with Trichothiodystrophy + 3
                HELIX syndrome 1
                nonphotosensitive trichothiodystrophy + 4
                photosensitive trichothiodystrophy + 4
paths to the root