amelogenesis imperfecta
Findings
No curated finding names amelogenesis imperfecta yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.
Definition from the Mondo Disease Ontology (MONDO:0019507), read 2026-09-29. CC BY 4.0.
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of dental colorHPOHP:0011073
- Very frequent (80% to 99% of cases)
- Yellow-brown discoloration of the teethHPOHP:0006286
- Very frequent (80% to 99% of cases)
- Anterior open-bite malocclusionHPOHP:0009102
- Frequent (30% to 79% of cases)
- Enamel hypomineralizationHPOHP:0006285
- Frequent (30% to 79% of cases)
- Enamel hypoplasiaHPOHP:0006297
- Frequent (30% to 79% of cases)
- Fragile teethHPOHP:0025124
- Frequent (30% to 79% of cases)
- Hypocalcification of dental enamelHPOHP:0011084
- Frequent (30% to 79% of cases)
- Hypomature dental enamelHPOHP:0011085
- Frequent (30% to 79% of cases)
- Impaired masticationHPOHP:0005216
- Frequent (30% to 79% of cases)
- Abnormal dentin morphologyHPOHP:0010299
- Occasional (5% to 29% of cases)
- Abnormal jaw morphologyHPOHP:0030791
- Occasional (5% to 29% of cases)
- Abnormal permanent molar morphologyHPOHP:0011071
- Occasional (5% to 29% of cases)
Show the remaining 4
- Hypoplasia of teethHPOHP:0000685
- Occasional (5% to 29% of cases)
- Multiple unerupted teethHPOHP:0006283
- Occasional (5% to 29% of cases)
- TaurodontiaHPOHP:0000679
- Occasional (5% to 29% of cases)
- Widely spaced teethHPOHP:0000687
- Occasional (5% to 29% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- Narrower terms (7)