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"

151 matching diseasesClear search ×

Toxin-mediated infectious botulism

Toxin-mediated infective botulism

ORPHA:230800

Wolcott-Rallison syndrome

Early-onset diabetes mellitus with multiple epiphyseal dysplasia · WRS

ORPHA:1667

Wound botulism

Cutaneous infectious botulism · Cutaneous toxin-mediated botulism

ORPHA:178475

X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndrome

ORPHA:3065

X-linked lissencephaly with abnormal genitalia

X-linked lissencephaly with ambiguous genitalia · X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome

ORPHA:452

Zollinger-Ellison syndrome

Gastrinoma

ORPHA:913

Lamellar ichthyosis

LI

ORPHA:313