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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"
Anterior cutaneous nerve entrapment syndrome
ACNES · Intercostal nerve syndrome
Feingold syndrome
Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum
Intermediate DEND syndrome
Developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form
KID syndrome
KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
N syndrome
Nevo syndrome
Cerebral gigantism, Nevo type
Pudendal nerve entrapment syndrome
Alcock syndrome · Pudendal algia