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 ×

Ependymoma

Classic ependymoma

ORPHA:251636

Anaplastic ependymoma

ORPHA:251646

Classic congenital lipoid adrenal hyperplasia due to STAR deficency

Classic CLAH

ORPHA:325524

Classic eosinophilic pustular folliculitis

Ofuji disease · Classic EPF

ORPHA:617408

Ependymoblastoma

ORPHA:251880

Subependymoma

ORPHA:251639