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amelogenesis imperfecta type 1E
Summary
- Synonym
-
- AIH1
- X-linked amelogenesis imperfecta 1
- X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1
- amelogenesis imperfecta hypomaturationtype with snow-capped teeth
- amelogenesis imperfecta type IE
- Definition
- An amelogenesis imperfecta that has_material_basis_in X-linked dominant mutation in the gene encoding amelogenin (AMELX).
- Super Class
- X-linked dominant disease amelogenesis imperfecta
External Links
- Disease Ontology
- DOID:0110058
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q04828 | Aldo-keto reductase family 1 member C1 | |
| Q9HC07 | Putative divalent cation/proton antiporter TMEM165 | |
| Q9NPA2 | Matrix metalloproteinase-25 | |
| Q9NRA2 | Sialin |
