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"

16 matching diseasesClear search ×

Congenital glaucoma

Buphthalmia · Buphthalmos

ORPHA:98976

Congenital alacrima

ORPHA:98604

Congenital hemangioma

ORPHA:458775

Congenital primary aphakia

ORPHA:83461

Congenital primary lymphedema of Gordon

VEGFC-related congenital primary lymphedema

ORPHA:569821

Congenital primary megaureter

Congenital primary megalo-ureter

ORPHA:617

Congenital primary megaureter, refluxing form

ORPHA:238650

Congenital ptosis

ORPHA:91411

Congenital pulmonary vein atresia

Congenital PVA · CPVA

ORPHA:99126

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

ORPHA:124

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

ORPHA:264675

Non-hereditary congenital primary lymphedema

ORPHA:79450

Peters anomaly

Peters congenital glaucoma

ORPHA:708

Primary congenital hypothyroidism

ORPHA:226295

Primary early-onset glaucoma

ORPHA:156005

Primary familial polycythemia

Congenital erythrocytosis due to erythropoietin receptor mutation · Congenital polycythemia due to erythropoietin receptor mutation

ORPHA:90042