| Metadata | |
|---|---|
| ID | DOID:0111871 |
| Name | photosensitive trichothiodystrophy 3 |
| Definition | A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2H5 gene on chromosome 6q25.3. https://pubmed.ncbi.nlm.nih.gov/15220921/ |
| Xrefs | |
| Synonyms |
trichothiodystrophy complementation group A [EXACT] TTD3 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |