Search Ontology:
Human Disease

nonphotosensitive trichothiodystrophy 6

Term ID
DOID:0111872
Synonyms
  • TTD6
Definition
A nonphotosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2E2 gene on chromosome 8p12. https://pubmed.ncbi.nlm.nih.gov/26996949/
References
Ontology
Human Disease   ( DOID:0111872 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations