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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 5
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Accession:DOID:0111868 term browser browse the term
Definition:A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in the RNF113A gene on chromosome Xq24. (DO)
Synonyms:exact_synonym: RNF113A-RELATED CONDITION;   TTD5
 primary_id: MIM:300953



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nonphotosensitive trichothiodystrophy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Trichothiodystrophy 5, nonphotosensitive ClinVar PMID:25741868 NCBI chr  X:121,289,904...121,293,555 JBrowse link
G Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: RNF113A-related condition | ClinVar Annotator: match by term: Trichothiodystrophy 5, nonphotosensitive OMIM
ClinVar
PMID:25612912 PMID:25741868 PMID:28492532 PMID:29144457 PMID:31793730 More... NCBI chr  X:116,427,941...116,429,164 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11370
      trichothiodystrophy 13
        nonphotosensitive trichothiodystrophy 7
          nonphotosensitive trichothiodystrophy 5 2
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        Neurologic Manifestations 10448
          sensory system disease 7376
            skin disease 4320
              Genetic Skin Diseases 1889
                trichothiodystrophy 13
                  nonphotosensitive trichothiodystrophy 7
                    nonphotosensitive trichothiodystrophy 5 2
paths to the root