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"

7 matching diseasesClear search ×

Anterior cutaneous nerve entrapment syndrome

ACNES · Intercostal nerve syndrome

ORPHA:51890

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

ORPHA:1305

Intermediate DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form

ORPHA:99989

KID syndrome

KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome

ORPHA:477

N syndrome

ORPHA:2608

Nevo syndrome

Cerebral gigantism, Nevo type

ORPHA:2691

Pudendal nerve entrapment syndrome

Alcock syndrome · Pudendal algia

ORPHA:60039