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"

17 matching diseasesClear search ×

Cholangiocarcinoma

Bile duct cancer · CCA

Congenital contractural arachnodactyly

Beals syndrome · Beals-Hecht syndrome

Congenital pulmonary airway malformation

CCAM · CPAM

Congenital pulmonary airway malformation type 1

CCAM type 1 · CPAM type 1

Congenital pulmonary airway malformation type 2

CCAM type 2 · CPAM type 2

Congenital pulmonary airway malformation type 3

CCAM type 3 · CPAM type 3

Gonococcal conjunctivitis

Graham Little-Piccardi-Lassueur syndrome

Graham Little syndrome · Piccardi-Lassueur-Little syndrome

Meningococcal meningitis

Pneumococcal meningitis

Staphylococcal necrotizing pneumonia

Staphylococcal scalded skin syndrome

Generalized exfoliative disease · SSSS

Staphylococcal scarlet fever

Staphylococcal toxemia

Staphylococcal toxic-shock syndrome

Staphylococcal TSS

Streptococcal toxic-shock syndrome

Streptococcal TSS

Perihilar cholangiocarcinoma

Hilar cholangiocarcinoma · Klatskin tumor