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amelogenesis imperfecta hypomaturation type 2A2
Summary
- Synonym
-
- AI2A2
- amelogenesis imperfecta hypomaturation type IIA2
- amelogenesis imperfecta pigmented hypomaturation type 2
- amelogenesis imperfecta type IIA2
- Definition
- An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20).
- Super Class
- amelogenesis imperfecta autosomal recessive disease
External Links
- Disease Ontology
- DOID:0110060
- 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 |
