Right ventricular hypoplasia
General Information (adopted from Orphanet):
Synonyms, Signs:
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IRVH
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Number of Symptoms
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3
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OrphanetNr:
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439
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OMIM Id:
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277200
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ICD-10:
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Q22.6
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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:
Prevalence:
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No data available.
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Inheritance:
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Autosomal recessive
Not applicable
[Orphanet]
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Age of onset:
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All ages
[Orphanet]
|
Disease classification (adopted from Orphanet):
Parent Diseases:
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Hypoplastic right heart syndrome
-Rare developmental defect during embryogenesis
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|
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1
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(HPO:0004762)
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Hypoplasia of right ventricle |
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|
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2 / 7739
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2
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(OMIM)
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Hypoplasia of tricuspid valve |
|
|
|
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1 / 7739
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3
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(HPO:0000007)
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Autosomal recessive inheritance |
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|
|
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2538 / 7739
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ClinVar (via SNiPA)
Gene symbol |
Variation |
Clinical significance |
Reference |