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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:nonphotosensitive trichothiodystrophy 7
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Accession:DOID:0111870 term browser browse the term
Definition:A nonphotosensitive trichothiodystrophy characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis that has_material_basis_in homozygous or compound heterozygous mutation in TARS1 on chromosome 5p13.3. (DO)
Synonyms:exact_synonym: TTD7
 primary_id: OMIM:618546
For additional species annotation, visit the Alliance of Genome Resources.


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nonphotosensitive trichothiodystrophy 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tars1 threonyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE OMIM
ClinVar
PMID:31374204 NCBI chr 2:61,394,632...61,414,115
Ensembl chr 2:61,394,770...61,414,102
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      trichothiodystrophy 9
        nonphotosensitive trichothiodystrophy 4
          nonphotosensitive trichothiodystrophy 7 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          skin disease 2749
            Skin Abnormalities 658
              trichothiodystrophy 9
                nonphotosensitive trichothiodystrophy 4
                  nonphotosensitive trichothiodystrophy 7 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.