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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 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
 xref: NCI:C173099
For additional species annotation, visit the Alliance of Genome Resources.


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photosensitive trichothiodystrophy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Trichothiodystrophy, complementation group A ClinVar PMID:7920640 PMID:8571952 PMID:9238033 PMID:20944642 PMID:23232694 PMID:25620205 PMID:25741868 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Gtf2h5 general transcription factor IIH subunit 5 ISO ClinVar Annotator: match by term: Trichothiodystrophy, complementation group a
ClinVar Annotator: match by term: Trichothiodystrophy 3, photosensitive
OMIM
ClinVar
PMID:15220921 PMID:24986372 PMID:25741868 PMID:30359777 NCBI chr 1:46,978,345...46,985,032
Ensembl chr 1:46,978,458...46,985,032
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    syndrome 7036
      trichothiodystrophy 8
        photosensitive trichothiodystrophy 4
          photosensitive trichothiodystrophy 3 2
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        sensory system disease 5168
          skin disease 2711
            dermatitis 419
              photosensitivity disease 28
                photosensitive trichothiodystrophy 4
                  photosensitive trichothiodystrophy 3 2
paths to the root