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"

55 matching diseasesClear search ×

Pyle disease

SFRP4-related Pyle disease · Metaphyseal dysplasia, Pyle type

ORPHA:3005

Sickle cell disease

HbSS disease · SCD

ORPHA:275752

Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant

HbSS disease · SCD

ORPHA:700085

Sickle cell S-C disease

Hemoglobin S-C disease · HbSC disease

ORPHA:251365

Sickle cell S-D Punjab disease

HbSD disease · Hemoglobin S-D Punjab disease

ORPHA:251370

Sickle cell S-E disease

HbSE disease · Hemoglobin S-E disease

ORPHA:251375

Von Hippel-Lindau disease

Familial cerebelloretinal angiomatosis · Lindau disease

ORPHA:892