| Metadata | |
|---|---|
| ID | DOID:0070707 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070707 Copy |
| Name | dentin dysplasia type II |
| Definition | A dentin dysplasia characterized by primary teeth with discoloration and obliteration of the pulp chamber, and secondary teeth with normal coloration, pulps shaped like thistles or tubes, and ovoid pulp stones that has_material_basis_in heterozygous mutation in the DSPP gene on chromosome 4q22. https://doi.org/10.1016/S0099-2399(79)80175-2, https://pmc.ncbi.nlm.nih.gov/articles/PMC4666581/ |
| Xrefs |
SNOMEDCT_US_2025_09_01:109494000 |
| SKOS |
exactMatch MIM:125420 exactMatch ORDO:99791 exactMatch UMLS_CUI:C0399380 exactMatch GARD:1806 |
| Subsets |
DO_rare_slim |
| Synonyms |
coronal dentin dysplasia [EXACT] DD-II [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a dentin dysplasia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |