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"

7 matching diseasesClear search ×

Nephroblastoma

Renal embryonic tumor · Wilms tumor

ORPHA:654

Denys-Drash syndrome

Wilms tumor-DSD syndrome · Drash syndrome

ORPHA:220

WAGR syndrome

Del(11)(p13) · Deletion 11p13

ORPHA:893

Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome

GLOW syndrome

ORPHA:404476

GRFoma

GRF tumor · Growth hormone releasing factor tumor

ORPHA:97261

Infantile digital fibromatosis

Inclusion body fibromatosis · Recurring digital fibrous tumor of childhood

ORPHA:199267

Rare tumor

Rare neoplasm

ORPHA:98057