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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 2
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Accession:DOID:0111869 term browser browse the term
Definition:A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC3 gene on chromosome 2q14.3. (DO)
Synonyms:exact_synonym: TTD2
 primary_id: OMIM:616390
 xref: MONDO:0014615;   NCI:C173103


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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 DNA:missense mutation:cds:p.T119P (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Trichothiodystrophy 2, photosensitive		 OMIM
CTD
ClinVar
RGD		 PMID:9012405 PMID:16947863 PMID:24728327 PMID:25741868 PMID:26556299 More... RGD:13207496 NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      trichothiodystrophy 11
        photosensitive trichothiodystrophy 4
          photosensitive trichothiodystrophy 2 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              Genetic Skin Diseases 1850
                trichothiodystrophy 11
                  photosensitive trichothiodystrophy 4
                    photosensitive trichothiodystrophy 2 1
paths to the root