| Metadata | |
|---|---|
| ID | DOID:0070706 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070706 Copy |
| Name | dentin dysplasia type IC |
| Definition | A dentin dysplasia characterized by tooth crowns that are normal in morphology, form, and color and roots that are short, blunt, and malformed, resulting in severe tooth hypermobility starting in late childhood followed by spontaneous tooth loss around 20 years of age, that has_material_basis_in heterozygous mutation in the SSUH2 gene on chromosome 3p25. https://pubmed.ncbi.nlm.nih.gov/27680507/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621559 broadMatch ORDO:99789 |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a autosomal dominant disease is_a dentin dysplasia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |