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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 8
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Accession:DOID:0061023 term browser browse the term
Definition:A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in compound heterozygous mutation in the AARS1 gene on chromosome 16q22. (DO)
Synonyms:exact_synonym: TTD8
 alt_id: DOID:9002363
 xref: MIM:619691;   MONDO:0030517


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nonphotosensitive trichothiodystrophy 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Trichothiodystrophy 8, nonphotosensitive OMIM
ClinVar		 PMID:6492094 PMID:25741868 PMID:28492532 PMID:33909043 NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19104
    syndrome 11279
      trichothiodystrophy 12
        nonphotosensitive trichothiodystrophy 7
          nonphotosensitive trichothiodystrophy 8 1
Path 2
Term Annotations click to browse term
  disease 19104
    disease of anatomical entity 18445
      nervous system disease 14347
        Neurologic Manifestations 10431
          sensory system disease 7340
            skin disease 4318
              Genetic Skin Diseases 1882
                trichothiodystrophy 12
                  nonphotosensitive trichothiodystrophy 7
                    nonphotosensitive trichothiodystrophy 8 1
paths to the root