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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
  • GARD:0017433
  • MIM:125400
  • ORDO:314721
  • SNOMEDCT_US_2025_09_01:783059004
  • UMLS_CUI:C5190802
Ontology
Human Disease   ( DOID:0070704 )
Relationships
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Genes Involved
Zebrafish Models