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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 4
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Accession:DOID:0050528 term browser browse the term
Definition:A syndrome that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene. (DO)
Synonyms:exact_synonym: HAIR-BRAIN SYNDROME;   Pollitt syndrome;   TTD4;   TTDN1;   nonphotosensitive trichothiodystrophy 1;   trichorrhexis nodosa syndrome;   trichothiodystrophy-neurocutaneous syndrome;   trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt
 primary_id: MESH:C536556
 alt_id: OMIM:234050
 xref: NCI:C146899
For additional species annotation, visit the Alliance of Genome Resources.


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nonphotosensitive trichothiodystrophy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mplkip M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy, nonphotosensitive 1 OMIM
ClinVar
PMID:1634754 PMID:2333887 PMID:4847854 PMID:5645693 PMID:15645389 PMID:16977596 PMID:24824130 PMID:25606444 PMID:25741868 PMID:26880286 NCBI chr17:49,955,060...49,990,982
Ensembl chr17:49,955,060...49,991,059
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      trichothiodystrophy 8
        nonphotosensitive trichothiodystrophy 4
          nonphotosensitive trichothiodystrophy 4 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        sensory system disease 5176
          skin disease 2714
            Skin Abnormalities 617
              trichothiodystrophy 8
                nonphotosensitive trichothiodystrophy 4
                  nonphotosensitive trichothiodystrophy 4 1
paths to the root