Angioedema, hereditary, 5 - CISMeF

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CISMeF

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Angioedema, hereditary, 5OMIM Phenotype

Preferred Label : Angioedema, hereditary, 5;

Symbol : HAE5;

Type : Phenotype, molecular basis known;

Prefixed ID : #619361;

Details

Origin ID

619361;

UMLS CUI

C5543508;

Genes related to phenotype
- Angiopoietin 1 [OMIM gene]
HPO term(s)
- Angioedema [HPO term]
- Autosomal dominant inheritance [HPO term]
- Edema of the dorsum of hands [HPO term]
- Facial edema [HPO term]
- Nail bed hemorrhage [HPO term]
- Nailfold capillary tortuosity [HPO term]
- Swollen lip [HPO term]
ORDO concept(s)
- Hereditary angioedema [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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01/06/2025

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