OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH, BLUE SCLERAE AND WORMIANBONES, BUT WITHOUT FRACTURES
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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14
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OrphanetNr:
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OMIM Id:
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166230
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ICD-10:
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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:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal dominant inheritance
[Omim]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0000164)
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Abnormality of the teeth |
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291 / 7739
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2
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(HPO:0002645)
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Wormian bones |
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65 / 7739
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3
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(HPO:0000592)
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Blue sclerae |
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85 / 7739
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4
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(HPO:0001367)
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Abnormal joint morphology |
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53 / 7739
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5
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(HPO:0005653)
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Moderate generalized osteoporosis |
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1 / 7739
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6
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(HPO:0003321)
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Biconcave flattened vertebrae |
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5 / 7739
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7
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(OMIM)
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Normal height |
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8 / 7739
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8
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(OMIM)
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Multiple fractures rare |
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1 / 7739
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9
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(OMIM)
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Mild flattening and biconcavity of the vertebral bodies |
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1 / 7739
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10
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(OMIM)
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Hearing loss uncommon |
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1 / 7739
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11
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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12
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(OMIM)
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Platybasia uncommon |
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1 / 7739
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13
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(OMIM)
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Opalescent teeth |
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4 / 7739
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14
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(OMIM)
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No joint hyperextensibility |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |