Details of Disease
General Information of Disease (ID: DIS2H1LL)
| Disease Name | Photosensitive trichothiodystrophy | |||||
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| Synonyms |
trichothiodystrophy with congenital ichtyosis; Ichtyosis, brittle hair, intellectual impairment, decreased fertility, and short stature; trichothiodystrophy with congenital ichthyosis; trichothiodystrophy; sulfur-deficient brittle hair syndrome; Tay syndrome; IBIDS syndrome
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| Definition | A trichothiodystrophy that is photosensitive, and caused by defects in the NER pathway | |||||
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