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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 the TARS1 gene on chromosome 5p13.3. (DO)
Synonyms:exact_synonym: TARS1-RELATED CONDITION;   TTD7
 primary_id: MIM:618546
 xref: NCI:C173102


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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: TARS1-related condition | ClinVar Annotator: match by term: Trichothiodystrophy 7, nonphotosensitive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31374204 NCBI chr 2:62,095,978...62,114,802
Ensembl chr 2:62,087,763...62,114,802 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      trichothiodystrophy 13
        nonphotosensitive trichothiodystrophy 7
          nonphotosensitive trichothiodystrophy 7 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Neurologic Manifestations 10446
          sensory system disease 7348
            skin disease 4336
              Genetic Skin Diseases 1865
                trichothiodystrophy 13
                  nonphotosensitive trichothiodystrophy 7
                    nonphotosensitive trichothiodystrophy 7 1
paths to the root