| Metadata | |
|---|---|
| ID | DOID:0111565 |
| Name | trichodontoosseous 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 |
| Xrefs |
SNOMEDCT_US_2023_03_01:38993008 |
| Subsets |
DO_rare_slim |
| Synonyms |
TDO syndrome [EXACT] tricho-dento-osseous syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |