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 ×

Immunodeficiency due to selective anti-polysaccharide antibody deficiency

Specific anti-polysaccharide antibody deficiency · Selective anti-polysaccharide antibody deficiency

ORPHA:70593

Alopecia antibody deficiency

Ipp-Gelfand syndrome

ORPHA:1006

Mucopolysaccharidosis type 10

Mucopolysaccharidosis type X · MSP type X

ORPHA:662216