Enteropathy, familial, with villous edema and immunoglobulin g2 deficiency

Preferred Label : Enteropathy, familial, with villous edema and immunoglobulin g2 deficiency;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant with incomplete penetrance;

Prefixed ID : 600351;

Details

Origin ID

600351;

UMLS CUI

C1838238;

Currated CISMeF NLP mapping
- enteropathy, familial, with villous edema and immunoglobulin G2 deficiency [MeSH concept]
- enteropathy, familial, with villous edema and immunoglobulin G2 deficiency [MeSH Supplementary Concept]
HPO term(s)
- Abnormal intestine morphology [HPO term]
- Abnormality of the cardiovascular system [HPO term]
- Anorexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Decreased circulating IgG level [HPO term]
- Diarrhea [HPO term]
- Edema [HPO term]
- Enteropathy [HPO term]
- Hypoalbuminemia [HPO term]
- Hypoproteinemia [HPO term]
- Neutropenia [HPO term]
- Secretory diarrhea [HPO term]
- Shock [HPO term]
- Vomiting [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- enteropathy, familial, with villous edema and immunoglobulin G2 deficiency [MeSH Supplementary Concept]
- enteropathy, familial, with villous edema and immunoglobulin G2 deficiency [MeSH concept]

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