Trichomegaly - cataract - hereditary spherocytosis
General Information (adopted from Orphanet):
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Synonyms, Signs:
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EYELASHES, LONG
Goldstein-Hutt syndrome
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Number of Symptoms
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3
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OrphanetNr:
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3362
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OMIM Id:
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190330
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ICD-10:
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Q87.8
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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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2
cases
[Orphanet]
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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:0000527)
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Long eyelashes |
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46 / 7739
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2
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(HPO:0000518)
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Cataract |
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454 / 7739
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3
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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 |