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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 RNF113A on chromosome Xq24. (DO)
Synonyms:exact_synonym: TTD5
 primary_id: OMIM:300953
For additional species annotation, visit the Alliance of Genome Resources.



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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:116,424,223...116,427,875
Ensembl chr  X:116,424,223...116,428,633
JBrowse link
G Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: Trichothiodystrophy 5, nonphotosensitive OMIM
ClinVar
PMID:25612912 PMID:25741868 PMID:29144457 PMID:31793730 PMID:31880405 NCBI chr  X:116,428,037...116,429,164
Ensembl chr  X:116,427,684...116,433,762
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      trichothiodystrophy 11
        nonphotosensitive trichothiodystrophy 7
          nonphotosensitive trichothiodystrophy 5 2
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        sensory system disease 6469
          skin disease 3754
            Skin Abnormalities 1055
              trichothiodystrophy 11
                nonphotosensitive trichothiodystrophy 7
                  nonphotosensitive trichothiodystrophy 5 2
paths to the root