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Metadata
ID DOID:0111872
Name nonphotosensitive trichothiodystrophy 6
Definition A nonphotosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2E2 gene on chromosome 8p12.
https://pubmed.ncbi.nlm.nih.gov/26996949/
Xrefs

OMIM:616943

Synonyms

TTD6 [EXACT]

Parent Relationships

is_a nonphotosensitive trichothiodystrophy

is_a autosomal recessive disease

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