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"

4 matching diseasesClear search ×

Developmental and epileptic encephalopathy with spike-wave activation in sleep

CSWS · CSWSS syndrome

ORPHA:725

Acute encephalopathy with inflammation-mediated status epilepticus

ORPHA:363567

Early infantile developmental and epileptic encephalopathy

Early infantile epileptic encephalopathy with suppression-bursts · Ohtahara syndrome

ORPHA:1934

Epileptic encephalopathy with global cerebral demyelination

AGC1 deficiency · Mitochondrial aspartate-glutamate carrier 1 deficiency

ORPHA:353217