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"

8 matching diseasesClear search ×

Genetic intestinal polyposis

Familial intestinal polyposis

ORPHA:363314

Attenuated familial adenomatous polyposis

AFAP · Attenuated FAP

ORPHA:220460

Familial adenomatous polyposis

Colorectal adenomatous polyposis · FAP

ORPHA:733

Familial intestinal malrotation

ORPHA:508410

Hereditary nonpolyposis colon cancer

Familial nonpolyposis colon cancer · Familial nonpolyposis colorectal cancer

ORPHA:443909

Intestinal polyposis syndrome

ORPHA:104010

Juvenile polyposis syndrome

JIP · JPS

ORPHA:2929

Peutz-Jeghers syndrome

Hamartomatous intestinal polyposis · PJS

ORPHA:2869