Metadata | |
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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 |