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"

11 matching diseasesClear search ×

Kawasaki disease

Mucocutaneous lymph node syndrome

ORPHA:2331

ALDH18A1-related De Barsy syndrome

Delta-1-pyrroline 5-carboxylate synthetase deficiency · Neurocutaneous syndrome, Bicknell type

ORPHA:35664

Brooke-Spiegler syndrome

CYLD cutaneous syndrome

ORPHA:79493

Cardiofaciocutaneous syndrome

CFC syndrome

ORPHA:1340

Ferro-cerebro-cutaneous syndrome

Cerebro-cutaneous syndrome with iron overload

ORPHA:397922

Gastrocutaneous syndrome

ORPHA:2069

Laryngo-onycho-cutaneous syndrome

LOGIC syndrome · Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome

ORPHA:2407

Malignant atrophic papulosis

MAP · Cutaneo-muco-intestinal syndrome

ORPHA:679

Neurocutaneous syndrome with epilepsy

ORPHA:166466

Oculocerebrocutaneous syndrome

Delleman syndrome · Delleman-Oorthuys syndrome

ORPHA:1647

Oculoosteocutaneous syndrome

ORPHA:2713