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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
 xref: NCI:C173102
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:25741868 PMID:31374204 NCBI chr 2:60,368,251...60,387,733
Ensembl chr 2:60,367,796...60,387,717 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    syndrome 9705
      trichothiodystrophy 11
        nonphotosensitive trichothiodystrophy 7
          nonphotosensitive trichothiodystrophy 7 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        sensory system disease 6410
          skin disease 3782
            Skin Abnormalities 1077
              trichothiodystrophy 11
                nonphotosensitive trichothiodystrophy 7
                  nonphotosensitive trichothiodystrophy 7 1
paths to the root