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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:photosensitive trichothiodystrophy
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Accession:DOID:2960 term browser browse the term
Definition:A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight. (DO)
Synonyms:exact_synonym: IBIDS syndrome;   TTD-P;   Tay syndrome;   photosensitive trichothiodystrophies;   sulfur-deficient brittle hair syndrome;   trichothiodystrophy with congenital ichthyosis;   trichothiodystrophy with sun sensitivity
 primary_id: MESH:C564733
 xref: NCI:C4924
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 OMIM:601675 MouseDO NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
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:7849702, PMID:7920640, PMID:8571952, PMID:9195225, PMID:9238033, PMID:9758621, PMID:11242112, PMID:11709541, PMID:20944642, PMID:23232694, PMID:24728327, PMID:25620205, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Gtf2h5 general transcription factor IIH subunit 5 ISO RGD PMID:22824526 RGD:7246919 NCBI chr 1:46,978,345...46,985,032
Ensembl chr 1:46,978,458...46,985,032
JBrowse link
G Mplkip M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr17:49,955,060...49,990,982
Ensembl chr17:49,955,060...49,991,059
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
PMID:9012405, PMID:9012405 RGD:13207496 NCBI chr18:25,037,668...25,068,380
Ensembl chr18:25,037,625...25,068,389
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 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 1:46,978,345...46,985,032
Ensembl chr 1:46,978,458...46,985,032
JBrowse link
primary hyperoxaluria type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoga1 4-hydroxy-2-oxoglutarate aldolase 1 ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type III
ClinVar Annotator: match by OMIM:613616
OMIM
ClinVar
PMID:20797690, PMID:21896830, PMID:21998747, PMID:22391140, PMID:22771891, PMID:22781098, PMID:22851625, PMID:24033266, PMID:24563386, PMID:25203624, PMID:25629080, PMID:25644115, PMID:25741868, PMID:25972204, PMID:26340091, PMID:27096395, PMID:27561601, PMID:27742850, PMID:28492532, PMID:28711958, PMID:30488096 NCBI chr 1:261,291,742...261,319,743
Ensembl chr 1:261,291,870...261,318,984
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      trichothiodystrophy 9
        photosensitive trichothiodystrophy 5
          photosensitive trichothiodystrophy 1 3
          photosensitive trichothiodystrophy 2 1
          photosensitive trichothiodystrophy 3 1
          primary hyperoxaluria type 3 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          skin disease 2765
            Genetic Skin Diseases 891
              trichothiodystrophy 9
                photosensitive trichothiodystrophy 5
                  photosensitive trichothiodystrophy 1 3
                  photosensitive trichothiodystrophy 2 1
                  photosensitive trichothiodystrophy 3 1
                  primary hyperoxaluria type 3 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.