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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


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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 4, nonphotosensitive OMIM
ClinVar		 PMID:1634754 PMID:2333887 PMID:4847854 PMID:5645693 PMID:15645389 More... NCBI chr17:47,373,624...47,376,199
Ensembl chr17:47,373,845...47,376,204 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      trichothiodystrophy 11
        nonphotosensitive trichothiodystrophy 7
          nonphotosensitive trichothiodystrophy 4 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              Genetic Skin Diseases 1850
                trichothiodystrophy 11
                  nonphotosensitive trichothiodystrophy 7
                    nonphotosensitive trichothiodystrophy 4 1
paths to the root