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"

10 matching diseasesClear search ×

Attenuated familial adenomatous polyposis

AFAP · Attenuated FAP

ORPHA:220460

AXIN2-related polyposis

AXIN2-related adenomatous polyposis

ORPHA:401911

Familial adenomatous polyposis

Colorectal adenomatous polyposis · FAP

ORPHA:733

Genetic intestinal polyposis

Familial intestinal polyposis

ORPHA:363314

Hereditary ATTR amyloidosis

Familial TTR-related amyloidosis · Familial transthyretin-related amyloidosis

ORPHA:271861

Hereditary nonpolyposis colon cancer

Familial nonpolyposis colon cancer · Familial nonpolyposis colorectal cancer

ORPHA:443909

MSH3-related polyposis

MSH3-related adenomatous polyposis

ORPHA:480536

MUTYH-related polyposis

MUTYH-related adenomatous polyposis

ORPHA:247798

NTHL1-related polyposis

NTHL1-related adenomatous polyposis

ORPHA:454840

OBSOLETE: APC-related attenuated familial adenomatous polyposis

ORPHA:247806