Search Ontology:
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
Ontology
Human Disease   ( DOID:0111873 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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