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MIRAGE
amelogenesis imperfecta type 3C
Summary
- Synonym
-
- AI3C
- amelogenesis imperfecta type IIIC
- autosomal recessive amelogenesis imperfecta hypocalcification type
- Definition
- An amelogenesis imperfecta type 3 that is characterized by hypocalcified enamel in both the primary and secondary dentition and that has_material_basis_in homozygous mutation in the RELT gene on chromosome 11q13.
- Super Class
- amelogenesis imperfecta type 3 autosomal recessive disease
External Links
- Disease Ontology
- DOID:0111722
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q969Z4 | Tumor necrosis factor receptor superfamily member 19L |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8BX43 | Tumor necrosis factor receptor superfamily member 19L |
