Search Ontology:
Human Disease
dentin dysplasia type IA
- Term ID
- DOID:0070704
- Synonyms
-
- atypical dentin dysplasia due to SMOC2 deficiency
- 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. (2)
- References
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- GARD:0017433
- MIM:125400
- ORDO:314721
- SNOMEDCT_US_2025_09_01:783059004
- UMLS_CUI:C5190802
- Ontology
- Human Disease ( DOID:0070704 )
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Genes Involved
Zebrafish Models