Metadata | |
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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 |