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"

13 matching diseasesClear search ×

Juvenile polyposis of infancy

Infantile juvenile polyposis syndrome

ORPHA:79076

Amish infantile epilepsy syndrome

Infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome

ORPHA:171714

Generalized juvenile polyposis/juvenile polyposis coli

ORPHA:329971

Hereditary mixed polyposis syndrome

HMPS

ORPHA:157794

Infantile epileptic spasms syndrome

IESS

ORPHA:697160

Intestinal polyposis syndrome

ORPHA:104010

Juvenile or adult CACH syndrome

ORPHA:157719

Juvenile polyposis syndrome

JIP · JPS

ORPHA:2929

Late infantile CACH syndrome

ORPHA:157716

Non-polyposis Turcot syndrome

ORPHA:99817

OBSOLETE: Infantile epilepsy syndrome

ORPHA:98258

Serrated polyposis syndrome

Hyperplastic polyposis syndrome

ORPHA:157798

Turcot syndrome with polyposis

ORPHA:99818