| Metadata | |
|---|---|
| ID | DOID:0111869 |
| Name | photosensitive trichothiodystrophy 2 |
| Definition | A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC3 gene on chromosome 2q14.3. https://pubmed.ncbi.nlm.nih.gov/9012405/ |
| Xrefs | |
| Synonyms |
TTD2 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |