dentinogenesis imperfecta
Findings
No curated finding names dentinogenesis imperfecta yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Dentinogenesis imperfecta (DGI) is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development.
Definition from the Mondo Disease Ontology (MONDO:0018849), read 2026-09-29. CC BY 4.0.
Features
21 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.
- Abnormal dental root morphologyHPOHP:0006486
- Very frequent (80% to 99% of cases)
- Pulp obliterationHPOHP:0006350
- Very frequent (80% to 99% of cases)
- Abnormal dental pulp morphologyHPOHP:0006479
- Frequent (30% to 79% of cases)
- Abnormal dentin morphologyHPOHP:0010299
- Frequent (30% to 79% of cases)
- Fragile teethHPOHP:0025124
- Frequent (30% to 79% of cases)
- Generalized hypoplasia of dental enamelHPOHP:0006282
- Frequent (30% to 79% of cases)
- Grayish enamelHPOHP:0000683
- Frequent (30% to 79% of cases)
- Hypocalcification of dental enamelHPOHP:0011084
- Frequent (30% to 79% of cases)
- Joint hypermobilityHPOHP:0001382
- Frequent (30% to 79% of cases)
- OdontodysplasiaHPOHP:0000694
- Frequent (30% to 79% of cases)
- Yellow-brown discoloration of the teethHPOHP:0006286
- Frequent (30% to 79% of cases)
- Bruising susceptibilityHPOHP:0000978
- Occasional (5% to 29% of cases)
Show the remaining 9
- Finger joint hypermobilityHPOHP:0006094
- Occasional (5% to 29% of cases)
- Hyperextensibility at elbowHPOHP:0010485
- Occasional (5% to 29% of cases)
- Knee joint hypermobilityHPOHP:0045086
- Occasional (5% to 29% of cases)
- Persistence of primary teethHPOHP:0006335
- Occasional (5% to 29% of cases)
- Selective tooth agenesisHPOHP:0001592
- Occasional (5% to 29% of cases)
- Short dental rootHPOHP:0006336
- Occasional (5% to 29% of cases)
Genes
1 gene
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.
- HGNC:3054HGNC:3054
- Definitive · ClinGen · Autosomal dominant · 2018
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
- Narrower terms (2)
Other names
9 names
Resolves to: dentinogenesis imperfecta
- Also called
- dentinogenesis imperfecta (disease)dentinogenesis imperfecta without osteogenesis imperfectaDGIDGI without OIDInon-syndromic dentinogenesis imperfectanon-syndromic DGIopalescent teeth without OIopalescent teeth without osteogenesis imperfecta