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MIRAGE
amelogenesis imperfecta type 1J
Summary
- Synonym
-
- Amelogenesis imperfecta, type IJ
- Definition
- An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ACPT on chromosome 19q13.
- Super Class
- amelogenesis imperfecta autosomal recessive disease
External Links
- Disease Ontology
- DOID:0080953
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9BZG2 | Testicular acid phosphatase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000705 | Amelogenesis imperfecta |
| HP:0000670 | Carious teeth |
| HP:0010299 | Abnormal dentin morphology |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0006297 | Enamel hypoplasia |
| HP:0011094 | Increased overbite |
| HP:0000687 | Widely spaced teeth |
