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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
solitary median maxillary central incisor
Summary
- Synonym
-
- SMMCI
- fused incisors
- single central maxillary incisor
- single median maxillary central incisor
- single upper central incisor
- Definition
- A tooth disease characterized by single deciduous and parmanent maxillary central incisor that may be isolated or occur with a range of other systemic anomalies that has_material_basis_in heterozygous mutation in SHH on chromosome 7q36.3.
- Super Class
- autosomal dominant disease tooth disease
External Links
- Disease Ontology
- DOID:0111380
- Mondo Disease Ontology
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P54826 | Growth arrest-specific protein 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001249 | Intellectual disability |
| HP:0009914 | Cyclopia |
| HP:0000453 | Choanal atresia |
| HP:0002247 | Duodenal atresia |
| HP:0000202 | Orofacial cleft |
| HP:0001511 | Intrauterine growth retardation |
| HP:0004322 | Short stature |
| HP:0000612 | Iris coloboma |
| HP:0000104 | Renal agenesis |
| HP:0001636 | Tetralogy of Fallot |
