Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
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:0000322 | Short philtrum |
| HP:0008736 | Hypoplasia of penis |
| HP:0000871 | Panhypopituitarism |
| HP:0010804 | Tented upper lip vermilion |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0000486 | Strabismus |
| HP:0003196 | Short nose |
| HP:0000062 | Ambiguous genitalia |
| HP:0001622 | Premature birth |
| HP:0000252 | Microcephaly |
