FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term nonphotosensitive trichothiodystrophy 5 ID (Ontology) DOID:0111868 (Human Disease)
Definition A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in the RNF113A gene on chromosome Xq24.
Also Known As "TTD5"
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 Genes
 nonphotosensitive trichothiodystrophy 5       1
 for disease ribbon | nonphotosensitive trichothiodystrophy 5       1
 model of | nonphotosensitive trichothiodystrophy 5       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked dominant disease______________
trichothiodystrophy                        |
 |__nonphotosensitive trichothiodystrophy__|
                                           nonphotosensitive trichothiodystrophy 5  1 rec.
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Is a X-linked dominant disease
nonphotosensitive trichothiodystrophy
Part of
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Synonyms
  • "TTD5" EXACT OMO:0003012
Secondary IDs
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MESH:D054463
MIM:300953
NCI:C156433