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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 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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    syndrome 9705
      trichothiodystrophy 11
        nonphotosensitive trichothiodystrophy 7
          nonphotosensitive trichothiodystrophy 4 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        sensory system disease 6410
          skin disease 3782
            Skin Abnormalities 1077
              trichothiodystrophy 11
                nonphotosensitive trichothiodystrophy 7
                  nonphotosensitive trichothiodystrophy 4 1
paths to the root