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ONTOLOGY REPORT - ANNOTATIONS


Term:photosensitive trichothiodystrophy 3
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Accession:DOID:0111871 term browser browse the term
Definition:A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in GTF2H5 on chromosome 6q25.3. (DO)
Synonyms:exact_synonym: TTD3;   TTDA;   trichothiodystrophy, complementation group A
 primary_id: OMIM:616395
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photosensitive trichothiodystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gtf2h5 general transcription factor IIH subunit 5 JBrowse link 1 46,978,345 46,985,032 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    syndrome 6143
      trichothiodystrophy 9
        photosensitive trichothiodystrophy 5
          photosensitive trichothiodystrophy 3 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        sensory system disease 4976
          skin disease 2652
            dermatitis 358
              photosensitivity disease 29
                photosensitive trichothiodystrophy 5
                  photosensitive trichothiodystrophy 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.