Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Familial adenomatous polyposis

Synonyms

Familial polyposis coli

Definitions

Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life.

ID

http://www.orpha.net/ORDO/Orphanet_733

alternative_term

Familial polyposis coli

Colorectal adenomatous polyposis

FAP

definition

Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=733

has_age_of_onset

Adult

has_inheritance

Autosomal recessive

Autosomal dominant

hasDbXref

ICD-10:D12.6

UMLS:C0032580

OMIM:617100

MeSH:D011125

OMIM:175100

OMIM:608456

MedDRA:10056981

ICD-11:2B90.Y

OMIM:616415

label

Familial adenomatous polyposis

notation

ORPHA:733

part_of

http://www.orpha.net/ORDO/Orphanet_363314

http://www.orpha.net/ORDO/Orphanet_271835

http://www.orpha.net/ORDO/Orphanet_104010

prefixIRI

ORDO:Orphanet_733

prefLabel

Familial adenomatous polyposis

present_in

United Kingdom AND has_point_prevalence_average_value : 5.3 AND has_point_prevalence_range : 1-9 / 100 000

Australia AND has_annual_incidence_average_value : 0.24 AND has_annual_incidence_range : 1-9 / 1 000 000

Finland AND has_annual_incidence_average_value : 15.8 AND has_annual_incidence_range : 1-5 / 10 000

United Kingdom AND has_birth_prevalence_average_value : 11.6 AND has_birth_prevalence_range : 1-5 / 10 000

Sweden AND has_point_prevalence_average_value : 3.2 AND has_point_prevalence_range : 1-9 / 100 000

Europe AND has_point_prevalence_average_value : 6.0 AND has_point_prevalence_range : 1-9 / 100 000

Finland AND has_point_prevalence_average_value : 2.63 AND has_point_prevalence_range : 1-9 / 100 000

Denmark AND has_annual_incidence_average_value : 19.0 AND has_annual_incidence_range : 1-5 / 10 000

Denmark AND has_point_prevalence_average_value : 4.65 AND has_point_prevalence_range : 1-9 / 100 000

Worldwide AND has_point_prevalence_range : 1-9 / 100 000

Australia AND has_point_prevalence_average_value : 2.8 AND has_point_prevalence_range : 1-9 / 100 000

Sweden AND has_annual_incidence_average_value : 8.6 AND has_annual_incidence_range : 1-9 / 100 000

treeView

http://www.orpha.net/ORDO/Orphanet_363314

http://www.orpha.net/ORDO/Orphanet_271835

http://www.orpha.net/ORDO/Orphanet_104010

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_733 EFO SAME_URI
http://www.orpha.net/ORDO/Orphanet_733 EFO LOOM
rgo:04166 GAMUTS LOOM
rgo:04166 GAMUTS LOOM
http://purl.obolibrary.org/obo/DOID_0050424 CLO LOOM
http://purl.obolibrary.org/obo/DOID_0050424 DOID LOOM
http://nanbyodata.jp/ontology/NANDO_2200915 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_0050424 DOID LOOM
http://purl.bioontology.org/ontology/ICD10CM/D13.91 ICD10CM LOOM
http://identifiers.org/omim/175100 REXO LOOM
http://identifiers.org/omim/175100 GEXO LOOM
http://identifiers.org/omim/175100 RETO LOOM
http://www.gamuts.net/entity#familial_adenomatous_polyposis GAMUTS LOOM
http://www.limics.org/hrdo/rdfns#pat_id_105 HRDO LOOM
http://purl.obolibrary.org/obo/NCIT_C3339 BERO LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000042839 PDQ LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3339 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Familial_Adenomatous_Polyposis CSEO LOOM
http://purl.obolibrary.org/obo/OMIM_175100 CCO LOOM
http://purl.obolibrary.org/obo/DOID_0050424 CLO LOOM
http://purl.obolibrary.org/obo/DOID_0050424 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050424 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050424 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050424 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050424 FNS-H LOOM
http://purl.bioontology.org/ontology/MEDDRA/10059327 MEDDRA LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050424 NATPRO LOOM
http://www.gamuts.net/entity#familial_adenomatous_polyposis GAMUTS REST
http://www.gamuts.net/entity#familial_adenomatous_polyposis GAMUTS REST
http://www.gamuts.net/entity#familial_adenomatous_polyposis GAMUTS REST