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RGD uses the Human Disease Ontology (DO, 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 ERCC3 on chromosome 2q14.3. (DO)
Synonyms:exact_synonym: TTD2
 primary_id: OMIM:616390
 xref: NCI:C173103
For additional species annotation, visit the Alliance of Genome Resources.

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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 ClinVar Annotator: match by term: Trichothiodystrophy 2, photosensitive
DNA:missense mutation:cds:p.T119P (human)
PMID:9012405, PMID:9012405 RGD:13207496 NCBI chr18:25,037,668...25,068,380
Ensembl chr18:25,037,625...25,068,389
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    syndrome 7036
      trichothiodystrophy 8
        photosensitive trichothiodystrophy 4
          photosensitive trichothiodystrophy 2 1
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 2 1
paths to the root