Term Name: | amelogenesis imperfecta type 3C |
---|---|
Synonyms: | AI3C, amelogenesis imperfecta type IIIC, autosomal recessive amelogenesis imperfecta hypocalcification type |
Definition: | An amelogenesis imperfecta type 3 that is characterized by hypocalcified enamel in both the primary and secondary dentition and that has_material_basis_in homozygous mutation in the RELT gene on chromosome 11q13. |
Ontology: | Human Disease [DOID:0111722] ( DOID:0111722 ) |