| Metadata | |
|---|---|
| ID | DOID:0070704 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070704 Copy |
| Name | dentin dysplasia type IA |
| Definition | A dentin dysplasia characterized by oligodontia, microdontia with very globular and malformed teeth and incisal notches, taurodontism of the molar teeth, and short roots that has_material_basis_in homozygous mutation in the SMOC2 gene on chromosome 6q27. https://pmc.ncbi.nlm.nih.gov/articles/PMC3234372/, https://pubmed.ncbi.nlm.nih.gov/23317772/ |
| Xrefs |
SNOMEDCT_US_2025_09_01:783059004 |
| SKOS |
exactMatch GARD:0017433 exactMatch MIM:125400 exactMatch UMLS_CUI:C5190802 exactMatch ORDO:314721 |
| Subsets |
DO_rare_slim |
| Synonyms |
atypical dentin dysplasia due to SMOC2 deficiency [EXACT] |
| Parent Relationships |
is_a dentin dysplasia |
| Subclass Logical Relationships |
has phenotype some Oligodontia has phenotype some Taurodontia has material basis in some autosomal recessive inheritance has phenotype some Microdontia |