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"

7 matching diseasesClear search ×

Coats disease

Congenital retinal telangiectasia · Leber miliary aneurysm

ORPHA:190

Ataxia-telangiectasia

Louis-Bar syndrome

ORPHA:100

Congenital pulmonary lymphangiectasia

Pulmonary lymphangiomatosis

ORPHA:2414

Cutis marmorata telangiectatica congenita

CMTC

ORPHA:1556

Idiopathic macular telangiectasia type 1

Aneurysmal telangiectasia · Visible and exudative idiopathic juxtafoveolar retinal telangiectasis

ORPHA:353344

OBSOLETE: Conjunctival telangiectasia

ORPHA:98613

Persistent hyperplastic primary vitreous

Non-syndromic congenital retinal non-attachment · PFVS

ORPHA:91495