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 ×

SERKAL syndrome

Sex reversion-kidneys, adrenal and lung dysgenesis syndrome

ORPHA:139466

Serotonin syndrome

Serotonergic syndrome · Serotonin storm

ORPHA:43116

Serpentine fibula-polycystic kidneys syndrome

Exner syndrome

ORPHA:2853

Tubulointerstitial nephritis and uveitis syndrome

Dobrin syndrome · TINU syndrome

ORPHA:91500

Van den Ende-Gupta syndrome

Marden-Walker-like syndrome · VDEGS

ORPHA:2460

Van der Woude syndrome

Cleft lip/palate with mucous cysts of lower lip · Lip-pit syndrome

ORPHA:888

Weaver-like syndrome

ORPHA:3446

Wolfram-like syndrome

ORPHA:411590