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 ×

AXIN2-related polyposis

AXIN2-related adenomatous polyposis

ORPHA:401911

Attenuated familial adenomatous polyposis

AFAP · Attenuated FAP

ORPHA:220460

Familial adenomatous polyposis

Colorectal adenomatous polyposis · FAP

ORPHA:733

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

Polymerase proofreading-related polyposis

Polymerase proofreading-related adenomatous polyposis · PPAP

ORPHA:447877