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"

8 matching diseasesClear search ×

Marburg hemorrhagic fever

Green monkey disease · MHF

ORPHA:99826

Adult-onset foveomacular vitelliform dystrophy

AOFMD · AVMD

ORPHA:99000

Kyasanur forest disease

Kyasanur hemorrhagic fever · Monkey disease

ORPHA:319254

Menkes disease

Menkes kinky hair disease · MD

ORPHA:565

Moyamoya disease

Idiopathic Moyamoya disease

ORPHA:2573

Mucopolysaccharidosis type 4

MPS4 · MPSIV

ORPHA:582

Parkinson-dementia complex of Guam

Guam parkinsonism-dementia complex · Guam disease

ORPHA:90020

Transgrediens et progrediens palmoplantar keratoderma

Greither disease · Keratosis extremitatum hereditaria progrediens

ORPHA:495