Disease Term Disease ID Gene Symbol References
Trichothiodystrophy 33364 MPLKIP
ERCC2
GTF2H5
ERCC3
RNF113A
GTF2E2
TARS1
Trichothiodystrophy Syndromes C1955934 ERCC2 12393803
ERCC3 12393803
GTF2E2 26996949
RNF113A 25612912
MPLKIP
GTF2H5 12393803
Tricho-thiodystrophy disorder C0432267 MPLKIP
TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE C4310785 GTF2E2 26996949
TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE C4225420 RNF113A 23555887, 29144457
Trichothiodystrophy, Nonphotosensitive 1 C4083251 MPLKIP 26880286
TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE C4225344 ERCC3 9012405
TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE C4017171 GTF2H5 15220921