photosensitive trichothiodystrophy 3

Term ID

DOID:0111871

Synonyms

• trichothiodystrophy complementation group A
• TTD3

Definition

A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2H5 gene on chromosome 6q25.3. https://pubmed.ncbi.nlm.nih.gov/15220921/

References

• OMIM:616395

Ontology

Human Disease   ( DOID:0111871 )