FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term trichodontoosseous syndrome ID (Ontology) DOID:0111565 (Human Disease)
Definition A syndrome characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology that has_material_basis_in heterozygous mutation in the DLX3 gene on chromosome 17q21.33.
Also Known As "TDO syndrome" ; "tricho-dento-osseous syndrome"
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 Genes
 trichodontoosseous syndrome       1
 for disease ribbon | trichodontoosseous syndrome       1
 model of | trichodontoosseous syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                trichodontoosseous syndrome  1 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "TDO syndrome" EXACT
    "tricho-dento-osseous syndrome" EXACT
Secondary IDs
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GARD:7799
MESH:C536549
MIM:190320
ORDO:3352
SNOMEDCT_US_2023_03_01:38993008
UMLS_CUI:C0265333