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"

26 matching diseasesClear search ×

Lymphomatoid papulosis

LyP

ORPHA:98842

Attenuated familial adenomatous polyposis

AFAP · Attenuated FAP

ORPHA:220460

AXIN2-related polyposis

AXIN2-related adenomatous polyposis

ORPHA:401911

Cap polyposis

Cap inflammatory polyposis · Eroded polypoid hyperplasia

ORPHA:160148

Familial adenomatous polyposis

Colorectal adenomatous polyposis · FAP

ORPHA:733

Gastric adenocarcinoma and proximal polyposis of the stomach

Familial fundic gland polyposis with gastric cancer · GAPPS

ORPHA:314022

Generalized juvenile polyposis/juvenile polyposis coli

ORPHA:329971

Genetic intestinal polyposis

Familial intestinal polyposis

ORPHA:363314

Hereditary mixed polyposis syndrome

HMPS

ORPHA:157794

Hereditary nonpolyposis colon cancer

Familial nonpolyposis colon cancer · Familial nonpolyposis colorectal cancer

ORPHA:443909

Intestinal polyposis syndrome

ORPHA:104010

Isolated congenital adermatoglyphia

Congenital absence of fingerprints · Immigration delay disease

ORPHA:289465

Juvenile polyposis of infancy

Infantile juvenile polyposis syndrome

ORPHA:79076

Juvenile polyposis syndrome

JIP · JPS

ORPHA:2929

Male infertility due to large-headed multiflagellar polyploid spermatozoa

Male infertility due to macrozoospermia · Macrocephalic sperm head syndrome

ORPHA:137893

MSH3-related polyposis

MSH3-related adenomatous polyposis

ORPHA:480536

MUTYH-related polyposis

MUTYH-related adenomatous polyposis

ORPHA:247798

Non-polyposis Turcot syndrome

ORPHA:99817

NTHL1-related polyposis

NTHL1-related adenomatous polyposis

ORPHA:454840

OBSOLETE: APC-related attenuated familial adenomatous polyposis

ORPHA:247806

OBSOLETE: Craniofaciocervical osteoglyphic dysplasia

OBSOLETE: Bazopoulou-Kyrkanidou syndrome

ORPHA:1800

OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome

OBSOLETE: Basan syndrome

ORPHA:1235

Polymerase proofreading-related polyposis

Polymerase proofreading-related adenomatous polyposis · PPAP

ORPHA:447877

Polyploidy syndrome

ORPHA:96321

Serrated polyposis syndrome

Hyperplastic polyposis syndrome

ORPHA:157798

Turcot syndrome with polyposis

ORPHA:99818