FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term photosensitive trichothiodystrophy 3 ID (Ontology) DOID:0111871 (Human Disease)
Definition A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2H5 gene on chromosome 6q25.3.
Also Known As "trichothiodystrophy complementation group A" ; "TTD3"
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 Genes
 photosensitive trichothiodystrophy 3       1
 for disease ribbon | photosensitive trichothiodystrophy 3       1
 model of | photosensitive trichothiodystrophy 3       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_________
trichothiodystrophy                     |
 |__photosensitive trichothiodystrophy__|
                                        photosensitive trichothiodystrophy 3  1 rec.
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Is a autosomal recessive disease
photosensitive trichothiodystrophy
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Synonyms
  • "trichothiodystrophy complementation group A" EXACT
    "TTD3" EXACT OMO:0003012
Secondary IDs
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MIM:616395