AORTIC ARCH INTERRUPTION, FACIAL PALSY, AND RETINAL COLOBOMA
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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9
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OrphanetNr:
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OMIM Id:
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107550
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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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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:0010628)
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Facial palsy |
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146 / 7739
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2
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(HPO:0001116)
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Macular coloboma |
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6 / 7739
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3
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(HPO:0007808)
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Bilateral retinal coloboma |
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4 / 7739
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4
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(HPO:0010817)
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Linear nevus sebaceous |
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1 / 7739
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5
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(HPO:0011611)
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Interrupted aortic arch |
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10 / 7739
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6
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(HPO:0001680)
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Coarctation of aorta |
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57 / 7739
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7
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(OMIM)
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Linear nevus sebaceous syndrome |
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1 / 7739
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8
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(OMIM)
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Hypoplastic/atretic transverse aortic arch |
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1 / 7739
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9
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(OMIM)
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Facial weakness, esp. depressor anguli oris |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |