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Metadata
ID DOID:0111871
Name photosensitive trichothiodystrophy 3
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/
Xrefs

OMIM:616395

Synonyms

trichothiodystrophy complementation group A [EXACT]

TTD3 [EXACT]

Parent Relationships

is_a photosensitive trichothiodystrophy

is_a autosomal recessive disease

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