photosensitive trichothiodystrophy 1 Disease Ontology Browser

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Disease Ontology Browser

photosensitive trichothiodystrophy 1 (DOID:0111873)
Alliance: disease page
Synonyms: TTD1
Alt IDs: OMIM:601675, NCI:C156433
Definition: A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC2 gene on chromosome 19q13.32.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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