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 ×

Arterial tortuosity syndrome

ATS

ORPHA:3342

Atypical Timothy syndrome

ATS · Atypical LQT8

ORPHA:595109

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

AMME complex · AMME syndrome

ORPHA:86818

Coats disease

Congenital retinal telangiectasia · Leber miliary aneurysm

ORPHA:190

Coats plus syndrome

CRMCC · Cerebroretinal microangiopathy with calcifications and cysts

ORPHA:313838

Imagawa-Matsumoto syndrome

SUZ12-related overgrowth syndrome

ORPHA:659463

OBSOLETE: Cortada-Koussef-Matsumoto syndrome

ORPHA:1499

Watson syndrome

Pulmonic stenosis with 'café-au-lait' spots

ORPHA:3444