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
Displaying 1 entry
Gene ID Gene Symbol Description Source
2619 GAS1 growth arrest specific 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P54826 Growth arrest-specific protein 1
The Human Phenotype Ontology
Displaying entries 21 - 30 of 35 in total
HPO ID HPO Term
HP:0006315 Solitary median maxillary central incisor
HP:0000821 Hypothyroidism
HP:0010644 Midnasal stenosis
HP:0001250 Seizure
HP:0000463 Anteverted nares
HP:0002650 Scoliosis
HP:0030680 Abnormal cardiovascular system morphology
HP:0001028 Hemangioma
HP:0009800 Maternal diabetes
HP:0000446 Narrow nasal bridge
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 19, 2024