Trichothiodystrophy 4, nonphotosensitive

Definition

A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein.

Also known as MPLKIP nonphotosensitive trichothiodystrophy, nonphotosensitive trichothiodystrophy caused by mutation in MPLKIP, Pollitt syndrome, trichothiodystrophy 4, nonphotosensitive, TTD4 — per MONDO

Also identified as

• DOID 0050528 per MONDO
• ICD9 704.8 per MONDO
• ICD9 783.43 per MONDO
• NCIT C146899 per MONDO
• OMIM 234050 per MONDO
• Orphanet 75790 per MONDO
• SCTID 403796005 per MONDO
• UMLS C1313961 per MONDO