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 ×

Undifferentiated embryonal sarcoma of the liver

Embryonal sarcoma of the liver · UES

ORPHA:178315

Congenital pulmonary sequestration

Congenital bronchopulmonary sequestration

ORPHA:3161

Extralobar congenital pulmonary sequestration

Congenital extrapulmonary sequestration · Extralobar congenital bronchopulmonary sequestration

ORPHA:280811

Genetic tumor of hematopoietic and lymphoid tissues

ORPHA:322126

Intralobar congenital pulmonary sequestration

Congenital intrapulmonary sequestration · Intralobar congenital bronchopulmonary sequestration

ORPHA:280802

Mutilating palmoplantar keratoderma with periorificial keratotic plaques

Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques · Olmsted syndrome

ORPHA:659

Pruritic urticarial papules and plaques of pregnancy

Polymorphic eruption of pregnancy · PUPPP

ORPHA:64745

Tumor of hematopoietic and lymphoid tissues

ORPHA:68347