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"

56 matching diseasesClear search ×

Presynaptic congenital myasthenic syndromes

ORPHA:98914

Rare congenital non-syndromic heart malformation

ORPHA:88991

Saldino-Mainzer syndrome

Conorenal syndrome · Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome

ORPHA:140969

Scimitar syndrome

Congenital pulmonary venolobar syndrome · Epibronchial right pulmonary vein syndrome

ORPHA:185

Stiff skin syndrome

ORPHA:2833

Synaptic congenital myasthenic syndrome

ORPHA:98915

Syndrome with congenital neutropenia as a major feature

Syndrome with constitutional neutropenia as a major feature · Syndrome with genetic neutropenia as a major feature

ORPHA:331184

Syndromic congenital sodium diarrhea

Syndromic congenital tufting enteropathy

ORPHA:563708