Retinal telangiectasia and hypogammaglobulinemia

Preferred Label : Retinal telangiectasia and hypogammaglobulinemia;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 267900;

Details

Origin ID

267900;

UMLS CUI

C2930961;

Automatic exact mappings (from CISMeF team)
- frenkel russe syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased circulating IgG level [HPO term]
- Reduced delayed hypersensitivity [HPO term]
- Retinal telangiectasia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Frenkel Russe syndrome [MeSH concept]
- frenkel russe syndrome [MeSH Supplementary Concept]

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