FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term nonphotosensitive trichothiodystrophy 8 ID (Ontology) DOID:0061023 (Human Disease)
Definition A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in compound heterozygous mutation in the AARS1 gene on chromosome 16q22.
Also Known As "TTD8"
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 Genes
 nonphotosensitive trichothiodystrophy 8       2
 for disease ribbon | nonphotosensitive trichothiodystrophy 8       2
 model of | nonphotosensitive trichothiodystrophy 8       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease____________
trichothiodystrophy                        |
 |__nonphotosensitive trichothiodystrophy__|
                                           nonphotosensitive trichothiodystrophy 8  2 rec.
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Is a autosomal recessive disease
nonphotosensitive trichothiodystrophy
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Synonyms
  • "TTD8" EXACT OMO:0003012
Secondary IDs
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MIM:619691