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"

12 matching diseasesClear search ×

Familial adenomatous polyposis

Colorectal adenomatous polyposis · FAP

ORPHA:733

Attenuated familial adenomatous polyposis

AFAP · Attenuated FAP

ORPHA:220460

Cap polyposis

Cap inflammatory polyposis · Eroded polypoid hyperplasia

ORPHA:160148

Familial angiolipomatosis

ORPHA:199279

Familial calcium pyrophosphate deposition

Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC

ORPHA:1416

Familial cavitary optic disc anomaly

Familial CODA

ORPHA:464760

Familial cylindromatosis

Turban tumor syndrome

ORPHA:211

Familial Mediterranean fever

Benign paroxysmal peritonitis · Benign recurrent polyserositis

ORPHA:342

Gastric adenocarcinoma and proximal polyposis of the stomach

Familial fundic gland polyposis with gastric cancer · GAPPS

ORPHA:314022

Genetic intestinal polyposis

Familial intestinal polyposis

ORPHA:363314

Hereditary nonpolyposis colon cancer

Familial nonpolyposis colon cancer · Familial nonpolyposis colorectal cancer

ORPHA:443909

Paroxysmal kinesigenic dyskinesia

Familial PKD · Familial paroxysmal kinesigenic dyskinesia

ORPHA:98809