Trichothiodystrophy 6, nonphotosensitive

Definition

Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the GTF2E2 gene.

Also known as GTF2E2 nonphotosensitive trichothiodystrophy, nonphotosensitive trichothiodystrophy caused by mutation in GTF2E2, trichothiodystrophy 6, nonphotosensitive, trichothiodystrophy 6, nonphotosensitive; TTD6, TTD6 — per MONDO

Also identified as

• DOID 0111872 per MONDO
• OMIM 616943 per MONDO
• UMLS C4310785 per MONDO