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"

200 matching diseasesClear search ×

Spastic paraplegia-severe developmental delay-epilepsy syndrome

SPPRS syndrome · Spastic paraplegia-psychomotor retardation-seizures syndrome

ORPHA:464282

Spinal arteriovenous metameric syndrome

Cutaneomeningospinal angiomatosis · SAMS 1-31

ORPHA:53721

Structural heart defects-renal anomalies syndrome

Severe congenital heart defects-renal anomalies syndome · SHDRA syndrome

ORPHA:689822

Subaortic stenosis-short stature syndrome

Onat syndrome

ORPHA:3191

Sweet syndrome

Acute febrile neutrophilic dermatosis

ORPHA:3243

Syndactyly-telecanthus-anogenital and renal malformations syndrome

STAR syndrome

ORPHA:140952

Thomas syndrome

Potter sequence-cleft lip/palate-cardiopathy syndrome

ORPHA:3316

Thrombocytopenia-absent radius syndrome

TAR syndrome

ORPHA:3320