Photosensitive Trichothiodystrophy 1
Disease ID: disease_node_19259
Connections displayed (default: 10).
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| Dbxref | MIM:601675, NCI:C156433 |
|---|---|
| Subclassof | DOID_2960, DOID_0050737 |
| Data Source | DOID |
| Synonyms | TTD1 |
| Doid Label | photosensitive trichothiodystrophy 1 |
| Doid Description | A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC2 gene on chromosome 19q13.32. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19259 |
| Doid Id | DOID_0111873 |
| Label | Photosensitive Trichothiodystrophy 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Trichothiodystrophy Syndromes(ID:disease_node_11937) (Disease)