Congenital pseudoarthrosis of clavicle
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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12
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OrphanetNr:
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66630
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OMIM Id:
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118980
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ICD-10:
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Q74.0
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UMLs:
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C0265565
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MeSH:
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MedDRA:
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Snomed:
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70794004
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Prevalence, inheritance and age of onset:
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Prevalence:
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>
200
cases
[Orphanet]
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Inheritance:
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Not applicable
[Orphanet]
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Age of onset:
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Childhood
[Orphanet]
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Dysostosis
-Rare bone disease
-Rare developmental defect during embryogenesis
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1
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(HPO:0000218)
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High palate |
|
|
|
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356 / 7739
|
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2
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(HPO:0000164)
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Abnormality of the teeth |
|
|
|
|
291 / 7739
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3
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(HPO:0006585)
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Congenital pseudoarthrosis of the clavicle |
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|
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4 / 7739
|
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4
|
(HPO:0002758)
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Osteoarthritis |
Very frequent [Orphanet]
|
|
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78 / 7739
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5
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(HPO:0000924)
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Abnormality of the skeletal system |
Very frequent [Orphanet]
|
|
|
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114 / 7739
|
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6
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(HPO:0006660)
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Aplastic clavicles |
Very frequent [Orphanet]
|
|
|
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70 / 7739
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7
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(HPO:0003363)
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Abdominal situs inversus |
Frequent [Orphanet]
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|
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19 / 7739
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8
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(HPO:0004322)
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Short stature |
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1232 / 7739
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9
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(HPO:0001651)
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Dextrocardia |
Frequent [Orphanet]
|
|
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|
38 / 7739
|
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10
|
(OMIM)
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Irregular upper teeth |
|
|
|
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1 / 7739
|
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11
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(OMIM)
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Congenital pseudoarthrosis of clavicle |
|
|
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1 / 7739
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12
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |