Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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


show annotations for term's descendants           Sort by:
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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      trichothiodystrophy 11
        nonphotosensitive trichothiodystrophy 7
          Nonphotosensitive Trichothiodystrophy 8 1
          Nonphotosensitive Trichothiodystrophy 9 1
          Sabinas brittle hair syndrome 0
          nonphotosensitive trichothiodystrophy 4 1
          nonphotosensitive trichothiodystrophy 5 2
          nonphotosensitive trichothiodystrophy 6 1
          nonphotosensitive trichothiodystrophy 7 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            skin disease 3968
              Genetic Skin Diseases 1852
                trichothiodystrophy 11
                  nonphotosensitive trichothiodystrophy 7
                    Nonphotosensitive Trichothiodystrophy 8 1
                    Nonphotosensitive Trichothiodystrophy 9 1
                    Sabinas brittle hair syndrome 0
                    nonphotosensitive trichothiodystrophy 4 1
                    nonphotosensitive trichothiodystrophy 5 2
                    nonphotosensitive trichothiodystrophy 6 1
                    nonphotosensitive trichothiodystrophy 7 1
paths to the root