OBO ID: DOID:0111873 |
Term Name: | photosensitive trichothiodystrophy 1 | Search Ontology: | |
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Definition: | A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC2 gene on chromosome 19q13.32. https://pubmed.ncbi.nlm.nih.gov/9195225/ | ||
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Ontology: | Human Disease ( DOID:0111873 ) |
OTHER photosensitive trichothiodystrophy 1 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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