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"

52 matching diseasesClear search ×

OBSOLETE: Congenital unilateral pulmonary hypoplasia

ORPHA:2258

Pulmonary valve agenesis

Congenital absence of the pulmonary valve · PVA

ORPHA:982

T-cell immunodeficiency with thymic aplasia

Nezelof syndrome · Isolated congenital athymia

ORPHA:83471

X-linked adrenal hypoplasia congenita

X-linked congenital adrenal hypoplasia · X-linked AHC

ORPHA:95702