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"

11 matching diseasesClear search ×

Pulmonary arterial hypertension associated with congenital heart disease

PAH · PAH associated with congenital heart disease

ORPHA:275803

Congenital CLN10 disease

CNCL · Congenital neuronal ceroid lipofuscinosis type 10

ORPHA:700487

Fetal methylmercury syndrome

Prenatal methylmercury poisoning · Congenital Minamata disease

ORPHA:1917

OBSOLETE: Syndrome associated with a congenital cardiopathy

ORPHA:98732

Pierre Robin syndrome associated with bone disease

Pierre Robin sequence associated with bone disease

ORPHA:138055

Pierre Robin syndrome associated with collagen disease

Pierre Robin sequence associated with collagen disease

ORPHA:138041

Pulmonary arterial hypertension associated with another disease

PAH · PAH associated with another disease

ORPHA:275791

Pulmonary arterial hypertension associated with chronic hemolytic anemia

PAH · PAH associated with chronic hemolytic anemia

ORPHA:275828

Pulmonary arterial hypertension associated with connective tissue disease

PAH · PAH associated with connective tissue disease

ORPHA:275798

Pulmonary arterial hypertension associated with HIV infection

PAH · PAH associated with HIV infaction

ORPHA:275808

Pulmonary arterial hypertension associated with portal hypertension

PAH · PAH associated with portal hypertension

ORPHA:275813