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Amelogenesis imperfecta

disorder
SNOMED 78494001CUI C0002452

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Research Evidence

Peer-reviewed studies linked via MeSH term "Amelogenesis Imperfecta" from the MEDLINE/PubMed database.

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Multiomics Data Synthesis of FAM83H in Amelogenesis Imperfecta.
[object Object], [object Object] · Int Dent J · 2026
PMID: 41385922Meta-AnalysisFull text (PMC)
Dental Management of Genetic Dental Disorders: A Critical Review.
[object Object], [object Object], [object Object] et al. · J Dent Res · 2025
PMID: 39905279Meta-AnalysisFull text (PMC)
Pretreatments to bonding on enamel and dentin disorders: a systematic review.
[object Object], [object Object] · Evid Based Dent · 2024
PMID: 39044008Meta-AnalysisFull text (PMC)
Dental treatment approaches of amelogenesis imperfecta in children and young adults: A systematic review of the literature.
[object Object], [object Object], [object Object] et al. · J Esthet Restor Dent · 2024
PMID: 38258433Meta-Analysis
Association between malocclusions and amelogenesis imperfecta genotype and phenotype: A systematic review.
[object Object], [object Object], [object Object] et al. · Int Orthod · 2023
PMID: 37494776Meta-Analysis
Patient-reported outcome measures in individuals with amelogenesis imperfecta: a systematic review.
[object Object], [object Object], [object Object] · Eur Arch Paediatr Dent · 2022
PMID: 35896941Meta-AnalysisFull text (PMC)
Association of molar incisor hypomineralization with premature birth or low birth weight: systematic review and meta-analysis.
[object Object], [object Object], [object Object] et al. · J Matern Fetal Neonatal Med · 2020
PMID: 30369281Meta-Analysis
Features, genetics and their correlation in Jalili syndrome: a systematic review.
[object Object], [object Object], [object Object] et al. · J Med Genet · 2019
PMID: 30705057Meta-Analysis
Interventions for the restorative care of amelogenesis imperfecta in children and adolescents.
[object Object], [object Object], [object Object] et al. · Cochrane Database Syst Rev · 2013
PMID: 23744349Meta-AnalysisFull text (PMC)
Amelogenesis imperfecta - a systematic literature review of associated dental and oro-facial abnormalities and their impact on patients.
[object Object], [object Object], [object Object] et al. · Acta Odontol Scand · 2008
PMID: 18615322Meta-Analysis

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormality of dental color
Very frequent (80-99%)HP:0011073
Yellow-brown discolored teeth
Very frequent (80-99%)HP:0006286
Anterior open bite between upper and lower teeth
Frequent (30-79%)HP:0009102
Chewing difficulties
Frequent (30-79%)HP:0005216
Decreased enamel calcification
Frequent (30-79%)HP:0011084
Defective enamel matrix
Frequent (30-79%)HP:0006297
Enamel with tendency to chip
Frequent (30-79%)HP:0025124
Fluorosis of tooth enamel
Frequent (30-79%)HP:0006285
Immature tooth enamel
Frequent (30-79%)HP:0011085
Abnormal jaw morphology
Occasional (5-29%)HP:0030791
Abnormality of shape of permanent molar
Occasional (5-29%)HP:0011071
Decreased size of teeth
Occasional (5-29%)HP:0000685
Dentin anomaly
Occasional (5-29%)HP:0010299
Failure of eruption of multiple teeth
Occasional (5-29%)HP:0006283
Taurodont
Occasional (5-29%)HP:0000679
Wide-spaced teeth
Occasional (5-29%)HP:0000687

Quick Facts

SNOMED CT
78494001
UMLS CUI
C0002452
Fully Specified Name
Amelogenesis imperfecta (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
16
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.