trichodontoosseous syndrome

Term ID

DOID:0111565

Synonyms

• TDO syndrome
• tricho-dento-osseous syndrome

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. https://www.ncbi.nlm.nih.gov/pubmed/22671030

References

• GARD:7799
• MESH:C536549
• MIM:190320
• ORDO:3352
• SNOMEDCT_US_2023_03_01:38993008
• UMLS_CUI:C0265333

Ontology

Human Disease   ( DOID:0111565 )