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amelogenesis imperfecta type 3A
Summary
- Synonym
-
- ADHCAI
- amelogenesis imperfecta hypomineralization type
- amelogenesis imperfecta type III
- autosomal dominant amelogenesis imperfecta hypocalcification type
- Definition
- An amelogenesis imperfecta type 3 that has_material_basis_in heterozygous mutation in the FAM83H gene on chromosome 8q24.
- Super Class
- amelogenesis imperfecta type 3 autosomal dominant disease
External Links
- Disease Ontology
- DOID:0110055
- 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 |
