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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:nonphotosensitive trichothiodystrophy
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Accession:DOID:0111867 term browser browse the term
Definition:A trichothiodystrophy characterized by absence of extreme sensitivity to UV radiation. (DO)
Synonyms:exact_synonym: ABHS;   Amish Brittle Hair Brain Syndrome;   Amish Brittle Hair Syndrome;   BIDS;   BIDS BRITTLE HAIR-IMPAIRED INTELLECT-DECREASED FERTILITY-SHORT STATURE SYNDROME;   BIDS Syndrome;   BIDS Syndromes;   BRITTLE HAIR-IMPAIRED INTELLECT-DECREASED FERTILITY-SHORT STATURE SYNDROME;   Brittle Hair Intellectual Impairment Decreased Fertility Short Stature Syndrome;   Hair Brain Syndrome;   Hair-Brain Syndromes
For additional species annotation, visit the Alliance of Genome Resources.


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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      trichothiodystrophy 9
        nonphotosensitive trichothiodystrophy 4
          Sabinas brittle hair syndrome 0
          nonphotosensitive trichothiodystrophy 4 1
          nonphotosensitive trichothiodystrophy 5 1
          nonphotosensitive trichothiodystrophy 6 1
          nonphotosensitive trichothiodystrophy 7 1
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          monogenic disease 5622
            autosomal genetic disease 4625
              autosomal recessive disease 2502
                nonphotosensitive trichothiodystrophy 4
                  Sabinas brittle hair syndrome 0
                  nonphotosensitive trichothiodystrophy 4 1
                  nonphotosensitive trichothiodystrophy 5 1
                  nonphotosensitive trichothiodystrophy 6 1
                  nonphotosensitive trichothiodystrophy 7 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.