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Human Disease
photosensitive trichothiodystrophy 1
- Term ID
- DOID:0111873
- Synonyms
-
- TTD1
- 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/
- References
-
- MIM:601675
- NCI:C156433
- Ontology
- Human Disease ( DOID:0111873 )
- is a type of
-
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Genes Involved
| Human Gene | Zebrafish Ortholog | OMIM Term | Disease | OMIM Phenotype ID |
|---|---|---|---|---|
| ERCC2 | Trichothiodystrophy 1, photosensitive | photosensitive trichothiodystrophy 1 | 601675 |
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Zebrafish Models