Hypomaturation amelogenesis imperfecta
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Amelogenesis imperfecta type 2 |
| Number of Symptoms | 3 |
| OrphanetNr: | 100033 |
| OMIM Id: |
204700
301200 612529 613211 614832 |
| ICD-10: |
K00.5 |
| UMLs: |
C0399372 |
| MeSH: |
C536606 |
| MedDRA: |
|
| Snomed: |
109475005 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant Autosomal recessive X-linked recessive [Orphanet] |
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Amelogenesis imperfecta
-Rare genetic disease -Rare odontologic disease |
Symptom Information:
|
|
(HPO:0000705) | Amelogenesis imperfecta | 25 / 7739 | ||||
|
|
(HPO:0000670) | Carious teeth | 145 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|