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"

3 matching diseasesClear search ×

Childhood occipital visual epilepsy

COVE · Idiopathic chilldhood occipital epilepsy-Gastaut type

ORPHA:98816

Autosomal recessive Robinow syndrome

COVESDEM syndrome · Costovertebral segmentation defect-mesomelia syndrome

ORPHA:1507

Non-recovering obstetric brachial plexus lesion

Chronic obstetric brachial plexus injury · Chronic obstetric brachial plexus palsy

ORPHA:439202