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"

5 matching diseasesClear search ×

OBSOLETE: Genetic common variable immunodeficiency phenotype and related disorders

OBSOLETE: Genetic CVID phenotype and related disorders

ORPHA:700746

Common variable immunodeficiency and related disorders

CVID and related disorders

ORPHA:696851

OBSOLETE: Aggrecan-related bone disorder

ORPHA:364817

OBSOLETE: Perlecan-related bone disorder

ORPHA:93424

OBSOLETE: Rare genetic choroidal disorder

ORPHA:522584