Dentinogenesis imperfecta type 2
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DI-2 DGI-2 Capdepont teeth Dentinogenesis imperfecta, Shields type 2 |
| Number of Symptoms | 2 |
| OrphanetNr: | 166260 |
| OMIM Id: |
125490
605594 |
| ICD-10: |
K00.5 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Dentinogenesis imperfecta
-Rare genetic disease -Rare odontologic disease |
Symptom Information:
|
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(HPO:0000703) | Dentinogenesis imperfecta | 18 / 7739 | ||||
|
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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