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"

13 matching diseasesClear search ×

Congenital primary megaureter

Congenital primary megalo-ureter

ORPHA:617

Congenital glaucoma

Buphthalmia · Buphthalmos

ORPHA:98976

Congenital megaprepuce

Isolated congenital buried penis

ORPHA:696897

Congenital primary aphakia

ORPHA:83461

Congenital primary lymphedema of Gordon

VEGFC-related congenital primary lymphedema

ORPHA:569821

Congenital primary megaureter, nonrefluxing and unobstructed form

ORPHA:238654

Congenital primary megaureter, obstructed form

ORPHA:238646

Congenital primary megaureter, refluxing and obstructed form

ORPHA:544578

Congenital primary megaureter, refluxing form

ORPHA:238650

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

ORPHA:124

Isolated congenital megalocornea

Congenital anterior megalophthalmia

ORPHA:91489

Primary congenital hypothyroidism

ORPHA:226295

Primary familial polycythemia

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

ORPHA:90042