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"

6 matching diseasesClear search ×

Hereditary nonpolyposis colon cancer

Familial nonpolyposis colon cancer · Familial nonpolyposis colorectal cancer

ORPHA:443909

Attenuated familial adenomatous polyposis

AFAP · Attenuated FAP

ORPHA:220460

Familial adenomatous polyposis

Colorectal adenomatous polyposis · FAP

ORPHA:733

Familial colorectal cancer Type X

FCCTX

ORPHA:440437

Gastric adenocarcinoma and proximal polyposis of the stomach

Familial fundic gland polyposis with gastric cancer · GAPPS

ORPHA:314022

Hereditary breast cancer

Familial breast cancer · Familial breast carcinoma

ORPHA:227535