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ONTOLOGY REPORT - ANNOTATIONS


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
For additional species annotation, visit the Alliance of Genome Resources.


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nonphotosensitive trichothiodystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mplkip M-phase specific PLK1 interacting protein JBrowse link 17 49,955,060 49,990,982 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 16022
    syndrome 6143
      trichothiodystrophy 9
        nonphotosensitive trichothiodystrophy 4
          nonphotosensitive trichothiodystrophy 4 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        sensory system disease 4976
          skin disease 2652
            Skin Abnormalities 613
              trichothiodystrophy 9
                nonphotosensitive trichothiodystrophy 4
                  nonphotosensitive trichothiodystrophy 4 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.