photosensitive trichothiodystrophy 2

Term ID

DOID:0111869

Synonyms

• TTD2

Definition

A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC3 gene on chromosome 2q14.3. https://pubmed.ncbi.nlm.nih.gov/9012405/

References

• OMIM:616390

Ontology

Human Disease   ( DOID:0111869 )