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DO Term : nonphotosensitive trichothiodystrophy 4 [DOID:0050528] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A nonphotosensitive trichothiodystrophy that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene.
  • synonyms:
  • OMIM:234050,
  • BIDS syndrome,
  • 234050,
  • HAIR-BRAIN SYNDROME,
  • AMISH BRITTLE HAIR BRAIN SYNDROME,
  • TTD4
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Disease

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Ontology

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