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"

8 matching diseasesClear search ×

Congenital primary lymphedema of Gordon

VEGFC-related congenital primary lymphedema

ORPHA:569821

CELSR1-related late-onset primary lymphedema

ORPHA:569816

Congenital glaucoma

Buphthalmia · Buphthalmos

ORPHA:98976

Congenital primary aphakia

ORPHA:83461

Congenital primary lymphedema without systemic or visceral involvement

ORPHA:2416

GJC2-related late-onset primary lymphedema

ORPHA:568051

Non-hereditary congenital primary lymphedema

ORPHA:79450

Primary lymphedema

ORPHA:77240