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nonphotosensitive trichothiodystrophy 6
Summary
- Synonym
-
- TTD6
- Definition
- A nonphotosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2E2 gene on chromosome 8p12.
- Super Class
- autosomal recessive disease nonphotosensitive trichothiodystrophy
External Links
- Disease Ontology
- DOID:0111872
- Mondo Disease Ontology
- OMIM
