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Trichothiodystrophy 4, Nonphotosensitive (MONDO:0021013)

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

Overview

Category

Ontology ID

Internal:20267

Synonyms

MPLKIP nonphotosensitive trichothiodystrophy

Pollitt syndrome

TTD4

nonphotosensitive trichothiodystrophy caused by mutation in MPLKIP

trichothiodystrophy 4, nonphotosensitive

Amish brittle hair brain syndrome

BIDS syndrome

hair-brain syndrome

nonphotosensitive trichothiodystrophy

trichothiodystrophy, nonphotosensitive 1

trichothiodystrophy-neurocutaneous syndrome

Mapped terms

DOID:0050528

GARD:0005271

ICD9:704.8

ICD9:783.43

MEDGEN:272036

NCIT:C146899

OMIM:234050

Orphanet:75790

SCTID:403796005

UMLS:C1313961

Child terms

Unknown children.