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 ×

Congenital epulis

Congenital gingival cell tumor · Congenital granular cell tumor

ORPHA:157826

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

ORPHA:93583

Germ cell tumor

ORPHA:3399

Germ cell tumor of testis

Testicular germ cell tumor

ORPHA:363504

Malignant granulosa cell tumor of the ovary

Granulosa cell cancer · Granulosa cell malignant tumor

ORPHA:99915

Proboscis lateralis

Congenital tubular nose

ORPHA:141099