Search Ontology:
Human Disease

nonphotosensitive trichothiodystrophy 4

Term ID
DOID:0050528
Synonyms
  • AMISH BRITTLE HAIR BRAIN SYNDROME
  • BIDS syndrome
  • HAIR-BRAIN SYNDROME
  • TTD4
Definition
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. https://ghr.nlm.nih.gov/condition/trichothiodystrophy
References
Ontology
Human Disease   ( DOID:0050528 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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