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"

12 matching diseasesClear search ×

Congenital intrinsic factor deficiency

Congenital pernicious anemia · Gastric intrinsic factor deficiency

ORPHA:332

Autosomal recessive sideroblastic anemia

ARSA · Congenital sideroblastic anemia

ORPHA:260305

Congenital analbuminemia

ORPHA:86816

Congenital atransferrinemia

Congenital hypotransferrinemia

ORPHA:1195

Congenital dyserythropoietic anemia

CDA

ORPHA:85

Congenital pericardium anomaly

ORPHA:2846

Congenital pulmonary vein atresia

Congenital PVA · CPVA

ORPHA:99126

Congenital trigeminal anesthesia

ORPHA:231013

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

ORPHA:124

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

ORPHA:264675

Isolated congenital anosmia

ORPHA:88620

Peripheral congenital arteriovenous fistula

Peripheral congenital AVF

ORPHA:708051