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
Disease Ontology
DOID:0111380
Mondo Disease Ontology
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6469 SHH sonic hedgehog signaling molecule
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q15465 Sonic hedgehog protein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 35 in total
HPO ID HPO Term
HP:0000486 Strabismus
HP:0000175 Cleft palate
HP:0000612 Iris coloboma
HP:0001250 Seizure
HP:0002247 Duodenal atresia
HP:0000252 Microcephaly
HP:0001028 Hemangioma
HP:0008736 Hypoplasia of penis
HP:0009914 Cyclopia
HP:0000821 Hypothyroidism
Displaying 1 entry
Gene ID Gene Symbol Description
2619 GAS1 growth arrest specific 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 4, 2025