Trichothiodystrophy 5, nonphotosensitive

Definition

Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene.

Also known as nonphotosensitive trichothiodystrophy caused by mutation in RNF113A, RNF113A nonphotosensitive trichothiodystrophy, trichothiodystrophy 5, nonphotosensitive — per MONDO

Also identified as

• DOID 0111868 per MONDO
• OMIM 300953 per MONDO
• UMLS C4225420 per MONDO