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"

58 matching diseasesClear search ×

Oley syndrome

Congenital hypotrichosis-milia syndrome

ORPHA:79458

Pierson syndrome

Microcoria-congenital nephrosis syndrome

ORPHA:2670

Porencephaly-microcephaly-bilateral congenital cataract syndrome

ORPHA:306547

Postsynaptic congenital myasthenic syndrome

ORPHA:98913

Presynaptic congenital myasthenic syndromes

ORPHA:98914

Scimitar syndrome

Congenital pulmonary venolobar syndrome · Epibronchial right pulmonary vein syndrome

ORPHA:185

Synaptic congenital myasthenic syndrome

ORPHA:98915

Syndromic cataract

ORPHA:98641

Syndromic congenital sodium diarrhea

Syndromic congenital tufting enteropathy

ORPHA:563708

Syndromic genetic cataract

ORPHA:522548