Search Ontology:
Human Disease
amelogenesis imperfecta type 3C
- Term ID
- DOID:0111722
- Synonyms
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- 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. https://www.ncbi.nlm.nih.gov/pubmed/30506946
- References
- Ontology
- Human Disease ( DOID:0111722 )
- is a type of
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