| Metadata | |
|---|---|
| ID | DOID:0110057 |
| Name | amelogenesis imperfecta type 2A1 |
| Definition | An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/15235027, https://www.ncbi.nlm.nih.gov/pubmed/23355523 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
AI2A1 [EXACT] amelogenesis imperfecta pigmented hypomaturation type 1 [EXACT] amelogenesis imperfecta type IIA1 [EXACT] |
| Parent Relationships |