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:0000202 Orofacial cleft
HP:0000104 Renal agenesis
HP:0000322 Short philtrum
HP:0000062 Ambiguous genitalia
HP:0000252 Microcephaly
HP:0000175 Cleft palate
HP:0001636 Tetralogy of Fallot
HP:0000871 Panhypopituitarism
HP:0008736 Hypoplasia of penis
HP:0000486 Strabismus
Displaying 1 entry
Gene ID Gene Symbol Description
2619 GAS1 growth arrest specific 1

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.2.1

Last updated: April 7, 2025