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"

105 matching diseasesClear search ×

Septo-optic dysplasia spectrum

De Morsier syndrome · SOD

ORPHA:3157

Severe dermatitis-multiple allergies-metabolic wasting syndrome

Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome · SAM syndrome

ORPHA:369992

Short rib-polydactyly syndrome, Majewski type

Short rib-polydactyly syndrome type 2

ORPHA:93269

Short stature due to growth hormone qualitative anomaly

Kowarski syndrome

ORPHA:629

Triple A syndrome

2A syndrome · 3A syndrome

ORPHA:869

W syndrome

Pallister-W syndrome

ORPHA:2804

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

Xanthoma disseminatum

Montgomery syndrome

ORPHA:158003

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome

ORPHA:3469