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"

10 matching diseasesClear search ×

Congenital vertical talus

Congenital convex foot · Congenital convex pes valgus

ORPHA:178382

Congenital long QT syndrome

Congenital LQTS

ORPHA:768

Congenital ptosis

ORPHA:91411

Congenital pulmonary vein atresia

Congenital PVA · CPVA

ORPHA:99126

Congenital short QT syndrome

Congenital SQTS

ORPHA:51083

Congenital temporomandibular joint ankylosis

Congenital trismus

ORPHA:210576

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

ORPHA:93583

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

ORPHA:124

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

ORPHA:264675

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

ORPHA:631