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ONTOLOGY REPORT - ANNOTATIONS


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 ERCC3 on chromosome 2q14.3. (DO)
Synonyms:exact_synonym: TTD2
 primary_id: OMIM:616390
For additional species annotation, visit the Alliance of Genome Resources.


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photosensitive trichothiodystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 18 25,037,668 25,068,380 RGD:8554872
RGD:13207496
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16021
    syndrome 6144
      trichothiodystrophy 9
        photosensitive trichothiodystrophy 5
          photosensitive trichothiodystrophy 2 1
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        sensory system disease 4979
          skin disease 2654
            dermatitis 358
              photosensitivity disease 29
                photosensitive trichothiodystrophy 5
                  photosensitive trichothiodystrophy 2 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.