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X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2
Summary
- Synonym
-
- AIH3
- amelogenesis imperfecta type IE X-linked 2
- amelogenesis imperfecta 3 hypoplastic type
- Definition
- An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region.
- Super Class
- amelogenesis imperfecta
External Links
- Disease Ontology
- DOID:0110059
- Mondo Disease Ontology
- OMIM
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 |
