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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 PMID:7920640, PMID:8571952, PMID:9238033, PMID:20944642, PMID:23232694, PMID:25620205, PMID:25741868, PMID:23046824, PMID:10416615 RGD:10401081, RGD:12880441 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
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 chr18:25,037,668...25,068,380
Ensembl chr18:25,037,625...25,068,389
JBrowse link
G Mplkip M-phase specific PLK1 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:49,955,060...49,990,982
Ensembl chr17:49,955,060...49,991,059
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
OMIM
PMID:25741868, PMID:28686597, PMID:28771254, PMID:32860008 NCBI chr15:104,026,590...104,115,748
Ensembl chr15:104,026,601...104,115,748
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, PMID:16977596, PMID:24824130, PMID:25606444, PMID:25741868, PMID:26880286 NCBI chr17:49,955,060...49,990,982
Ensembl chr17:49,955,060...49,991,059
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:123,806,922...123,808,049
Ensembl chr  X:124,516,949...124,518,077
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
OMIM
PMID:26996949 NCBI chr16:62,113,846...62,164,339
Ensembl chr16:62,113,854...62,164,135
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 2:61,394,632...61,414,115
Ensembl chr 2:61,394,770...61,414,102
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 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 16058
    syndrome 6996
      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 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            Genetic Skin Diseases 890
              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.