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"

9 matching diseasesClear search ×

Diencephalic syndrome

Diencephalic cachexia · Diencephalic syndrome of childhood

ORPHA:1672

Autoinflammatory syndrome of childhood

ORPHA:319719

CHILD syndrome

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects · CHILD nevus

ORPHA:139

Childhood-onset epilepsy syndrome

ORPHA:98259

Hallermann-Streiff syndrome

François dyscephalic syndrome · Oculomandibulofacial syndrome

ORPHA:2108

Neuhauser-Eichner-Opitz syndrome

Recurrent encephalophathy of childhood

ORPHA:2672

Periodic fever syndrome of childhood

ORPHA:324939

Pyogenic autoinflammatory syndrome of childhood

ORPHA:324942

Unexplained periodic fever syndrome of childhood

ORPHA:324960