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"

6 matching diseasesClear search ×

Schnyder corneal dystrophy

Crystalline stromal dystrophy · Hereditary crystalline stromal dystrophy of Schnyder

ORPHA:98967

Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

HbSS disease · HPFH-sickle cell disease syndrome

ORPHA:251380

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

Small cell carcinoma of the bladder

Poorly differentiated neuroendocrine carcinoma of the bladder · SCCB

ORPHA:284400

Small cell carcinoma of the ovary

SCCO · Small cell ovarian carcinoma

ORPHA:370396