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"

9 matching diseasesClear search ×

Marburg hemorrhagic fever

Green monkey disease · MHF

ORPHA:99826

Classic glucose transporter type 1 deficiency syndrome

De Vivo disease · Classic GLUT1 deficiency syndrome

ORPHA:71277

Ebola hemorrhagic fever

EHF · Ebola fever

ORPHA:319218

GCGR-related hyperglucagonemia

Mahvash disease

ORPHA:438274

Nipah virus disease

Nipah fever · Nipah encephalitis

ORPHA:99825

Norrie disease

Atrophia bulborum hereditaria · Episkopi blindness

ORPHA:649

Osteopetrosis with renal tubular acidosis

Carbonic anhydrase 2 deficiency · Guibaud-Vainsel syndrome

ORPHA:2785

Rare viral disease

ORPHA:163585

Zika virus disease

Zika virus infection

ORPHA:448237