| Metadata | |
|---|---|
| ID | DOID:0070705 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070705 Copy |
| Name | dentin dysplasia type IB |
| Definition | A dentin dysplasia characterized by teeth with crowns that have normal morphology and roots that are short, blunt, and malformed, resulting in tooth hypermobility and subsequent exfoliation of permanent dentition starting in the second decade that has_material_basis_in heterozygous mutation in the VPS4B gene on chromosome 18q21. https://pubmed.ncbi.nlm.nih.gov/27247351/ |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C6065939 exactMatch MIM:621440 broadMatch MESH:C538215 broadMatch UMLS_CUI:C0399379 broadMatch ORDO:99789 broadMatch GARD:1807 |
| 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 |