| Metadata | |
|---|---|
| ID | DOID:0111872 |
| Name | nonphotosensitive trichothiodystrophy 6 |
| Definition | A nonphotosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2E2 gene on chromosome 8p12. https://pubmed.ncbi.nlm.nih.gov/26996949/ |
| Xrefs | |
| Synonyms |
TTD6 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |