Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

3 matching diseasesClear search ×

Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations

CVID phenotype due to germinal digenic/polygenic mutations

ORPHA:696857

Common variable immunodeficiency phenotype due to germinal monogenic mutation

Monogenic CVID phenotype · Monogenic common variable immunodeficiency phenotype

ORPHA:696870

Common variable immunodeficiency phenotype due to somatic mutations

CVID phenotype due to somatic mutations

ORPHA:696863