| Metadata | |
|---|---|
| ID | DOID:0111722 |
| Name | amelogenesis imperfecta type 3C |
| 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 |
| Xrefs | |
| Synonyms |
AI3C [EXACT] amelogenesis imperfecta type IIIC [EXACT] autosomal recessive amelogenesis imperfecta hypocalcification type [EXACT] |
| Parent Relationships |