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"

20 matching diseasesClear search ×

Dursun syndrome

Pulmonary arterial hypertension-leukopenia-atrial septal defect syndrome

ORPHA:178503

Brachydactyly-arterial hypertension syndrome

Bilginturan brachydactyly · Bilginturan syndrome

ORPHA:1276

Braddock syndrome

Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency

ORPHA:52047

Drug- or toxin-induced pulmonary arterial hypertension

Drug- or toxin-induced PAH · PAH

ORPHA:275786

Fatal infantile encephalopathy-pulmonary hypertension syndrome

ORPHA:293838

Heritable pulmonary arterial hypertension

Familial pulmonary arterial hypertension · FPAH

ORPHA:275777

Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

HUPRA syndrome

ORPHA:363694

Idiopathic pulmonary arterial hypertension

IPAH · PAH

ORPHA:275766

Idiopathic/heritable pulmonary arterial hypertension

Idiopathic and/or familial pulmonary arterial hypertension · PAH

ORPHA:422

Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome

ORPHA:86914

Pulmonary arterial hypertension

PAH · Pulmonary arterial hypertension

ORPHA:182090

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 congenital heart disease

PAH · PAH associated with congenital heart disease

ORPHA:275803

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

Pulmonary arterial hypertension associated with schistosomiasis

PAH · PAH associated with schistosomiasis

ORPHA:275823

Severe congenital neutropenia due to G6PC3 deficiency

SCN due to G6PC3 deficiency · Severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency

ORPHA:331176

Syndrome with pulmonary hypertension as a major feature

ORPHA:275853