| Metadata | |
|---|---|
| ID | DOID:0070724 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070724 Copy |
| Name | dental radicular dysplasia |
| Definition | A mouth disease characterized by taurodontism, unseparated roots, long roots, tooth agenesis, torus palatinus, and torus mandibularis that has_material_basis_in heterozygous mutation in the KCTD1 gene on chromosome 18q11. https://pubmed.ncbi.nlm.nih.gov/38791218/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621434 |
| Subsets |
DO_rare_slim |
| Synonyms |
DNRD [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a mouth disease |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |