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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
 broad_synonym: ERCC3-RELATED CONDITION
 primary_id: MIM: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)
ClinVar Annotator: match by term: ERCC3-related condition | ClinVar Annotator: match by term: Trichothiodystrophy 2, photosensitive 		OMIM
ClinVar
RGD		 PMID:9012405 PMID:16947863 PMID:24728327 PMID:25741868 PMID:26023681 More... RGD:13207496 NCBI chr18:24,157,831...24,188,543
Ensembl chr18:24,148,084...24,190,898 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      trichothiodystrophy 13
        photosensitive trichothiodystrophy 5
          photosensitive trichothiodystrophy 2 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Neurologic Manifestations 10446
          sensory system disease 7348
            skin disease 4336
              Genetic Skin Diseases 1865
                trichothiodystrophy 13
                  photosensitive trichothiodystrophy 5
                    photosensitive trichothiodystrophy 2 1
paths to the root