Human Phenotype Ontology 
Grandparent Node:
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Abnormal large intestine morphology (HP:0002250)help
Grandparent Node:
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Neoplasm of the gastrointestinal tract (HP:0007378)help
Parent Node:
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Abnormal rectum morphology (HP:0002034)help
Parent Node:
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Neoplasm of the large intestine (HP:0100834)help
..Starting node
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Neoplasm of the rectum (HP:0100743)help
Term ID: 100743
Name: Neoplasm of the rectum
Synonym: Rectal tumor; Rectal tumour
Definition:
Comments:
Reference: HP:0100743
Genes and Diseases:
 
       Child Nodes:
........expandRectal polyposis (HP:0100896) help
........expandColorectal polyposis (HP:0200063) help

 Sister Nodes: 
..expandAdenocarcinoma of the large intestine (HP:0040275) help
..expandAnal canal neoplasm (HP:0030437) help
..expandHereditary nonpolyposis colorectal carcinoma (HP:0006716) help
..expandNeoplasm of the colon (HP:0100273) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100743HP:0100743Neoplasm of the rectum0AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0100743HP:0100743Neoplasm of the rectum0APC CL E G H324583OMIM:135290Desmoid disease, hereditary3179
HP:0100743HP:0100743Neoplasm of the rectum0AXIN2 CL E G H8313904ORPHA:401911AXIN2-related attenuated familial adenomatous polyposisHP:0040283 - Occasional435
HP:0100743HP:0100743Neoplasm of the rectum0BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type XHP:0040282 - Frequent385
HP:0100743HP:0100743Neoplasm of the rectum0BMPR1A CL E G H6571076ORPHA:329971Generalized juvenile polyposis/juvenile polyposis coli385
HP:0100743HP:0100743Neoplasm of the rectum0BMPR1A CL E G H6571076ORPHA:157794Hereditary mixed polyposis syndromeHP:0040283 - Occasional385
HP:0100743HP:0100743Neoplasm of the rectum0CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare289
HP:0100743HP:0100743Neoplasm of the rectum0CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare833
HP:0100743HP:0100743Neoplasm of the rectum0DICER1 CL E G H2340517098ORPHA:276399Familial multinodular goiter670
HP:0100743HP:0100743Neoplasm of the rectum0ENG CL E G H20223349ORPHA:329971Generalized juvenile polyposis/juvenile polyposis coli186
HP:0100743HP:0100743Neoplasm of the rectum0EPCAM CL E G H407211529ORPHA:144Lynch syndromeHP:0040282 - Frequent170
HP:0100743HP:0100743Neoplasm of the rectum0FAN1 CL E G H2290929170ORPHA:144Lynch syndromeHP:0040282 - Frequent15
HP:0100743HP:0100743Neoplasm of the rectum0GREM1 CL E G H265852001ORPHA:157794Hereditary mixed polyposis syndromeHP:0040283 - Occasional9
HP:0100743HP:0100743Neoplasm of the rectum0KEAP1 CL E G H981723177ORPHA:276399Familial multinodular goiter
HP:0100743HP:0100743Neoplasm of the rectum0KIT CL E G H38156342ORPHA:44890Gastrointestinal stromal tumorHP:0040283 - Occasional327
HP:0100743HP:0100743Neoplasm of the rectum0KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0100743HP:0100743Neoplasm of the rectum0KRAS CL E G H38456407ORPHA:144Lynch syndromeHP:0040282 - Frequent196
HP:0100743HP:0100743Neoplasm of the rectum0MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare1
HP:0100743HP:0100743Neoplasm of the rectum0MLH1 CL E G H42927127ORPHA:144Lynch syndromeHP:0040282 - Frequent1819
HP:0100743HP:0100743Neoplasm of the rectum0MLH3 CL E G H270307128ORPHA:144Lynch syndromeHP:0040282 - Frequent131
HP:0100743HP:0100743Neoplasm of the rectum0MSH2 CL E G H44367325ORPHA:144Lynch syndromeHP:0040282 - Frequent2162
HP:0100743HP:0100743Neoplasm of the rectum0MSH3 CL E G H44377326ORPHA:480536MSH3-related attenuated familial adenomatous polyposisHP:0040282 - Frequent5
HP:0100743HP:0100743Neoplasm of the rectum0MSH6 CL E G H29567329ORPHA:144Lynch syndromeHP:0040282 - Frequent2232
HP:0100743HP:0100743Neoplasm of the rectum0MSH6 CL E G H29567329OMIM:619097MISMATCH REPAIR CANCER SYNDROME 3; MMRCS32232
HP:0100743HP:0100743Neoplasm of the rectum0MUTYH CL E G H45957527ORPHA:247798MUTYH-related attenuated familial adenomatous polyposis592
HP:0100743HP:0100743Neoplasm of the rectum0NTHL1 CL E G H49138028ORPHA:454840NTHL1-related attenuated familial adenomatous polyposisHP:0040282 - Frequent2
HP:0100743HP:0100743Neoplasm of the rectum0PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0100743HP:0100743Neoplasm of the rectum0PDGFRA CL E G H51568803ORPHA:44890Gastrointestinal stromal tumorHP:0040283 - Occasional337
HP:0100743HP:0100743Neoplasm of the rectum0PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0100743HP:0100743Neoplasm of the rectum0PIK3CA CL E G H52908975ORPHA:144Lynch syndromeHP:0040282 - Frequent162
HP:0100743HP:0100743Neoplasm of the rectum0PMS1 CL E G H53789121ORPHA:144Lynch syndromeHP:0040282 - Frequent56
HP:0100743HP:0100743Neoplasm of the rectum0PMS2 CL E G H53959122ORPHA:144Lynch syndromeHP:0040282 - Frequent1121
HP:0100743HP:0100743Neoplasm of the rectum0POLD1 CL E G H54249175OMIM:612591Colorectal cancer, susceptibility to, 10731
HP:0100743HP:0100743Neoplasm of the rectum0POLD1 CL E G H54249175ORPHA:447877Polymerase proofreading-related adenomatous polyposisHP:0040283 - Occasional731
HP:0100743HP:0100743Neoplasm of the rectum0POLE CL E G H54269177OMIM:615083Colorectal cancer, susceptibility to, 121129
HP:0100743HP:0100743Neoplasm of the rectum0POLE CL E G H54269177ORPHA:447877Polymerase proofreading-related adenomatous polyposisHP:0040283 - Occasional1129
HP:0100743HP:0100743Neoplasm of the rectum0PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0100743HP:0100743Neoplasm of the rectum0PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0100743HP:0100743Neoplasm of the rectum0RNF43 CL E G H5489418505ORPHA:157798Serrated polyposis syndrome5
HP:0100743HP:0100743Neoplasm of the rectum0RPS20 CL E G H622410405ORPHA:440437Familial colorectal cancer Type XHP:0040282 - Frequent1
HP:0100743HP:0100743Neoplasm of the rectum0SDHA CL E G H638910680ORPHA:44890Gastrointestinal stromal tumorHP:0040283 - Occasional304
HP:0100743HP:0100743Neoplasm of the rectum0SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0100743HP:0100743Neoplasm of the rectum0SDHB CL E G H639010681ORPHA:44890Gastrointestinal stromal tumorHP:0040283 - Occasional237
HP:0100743HP:0100743Neoplasm of the rectum0SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0100743HP:0100743Neoplasm of the rectum0SDHC CL E G H639110682ORPHA:44890Gastrointestinal stromal tumorHP:0040283 - Occasional147
HP:0100743HP:0100743Neoplasm of the rectum0SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0100743HP:0100743Neoplasm of the rectum0SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0100743HP:0100743Neoplasm of the rectum0SEMA4A CL E G H6421810729ORPHA:440437Familial colorectal cancer Type XHP:0040282 - Frequent48
HP:0100743HP:0100743Neoplasm of the rectum0SMAD4 CL E G H40896770ORPHA:329971Generalized juvenile polyposis/juvenile polyposis coli504
HP:0100743HP:0100743Neoplasm of the rectum0STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndromeHP:0040283 - Occasional740
HP:0100743HP:0100743Neoplasm of the rectum0TGFBR2 CL E G H704811773ORPHA:144Lynch syndromeHP:0040282 - Frequent253
HP:0100743HP:0100743Neoplasm of the rectum0TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare911
HP:0100743HP:0100743Neoplasm of the rectum0USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0100743HP:0200063Colorectal polyposis1AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040281 - Very frequent54
HP:0100743HP:0200063Colorectal polyposis1APC CL E G H324583OMIM:135290Desmoid disease, hereditary3179
HP:0100743HP:0200063Colorectal polyposis1AXIN2 CL E G H8313904ORPHA:401911AXIN2-related attenuated familial adenomatous polyposisHP:0040282 - Frequent435
HP:0100743HP:0100896Rectal polyposis1BMPR1A CL E G H6571076ORPHA:329971Generalized juvenile polyposis/juvenile polyposis coliHP:0040282 - Frequent385
HP:0100743HP:0100896Rectal polyposis1BMPR1A CL E G H6571076ORPHA:157794Hereditary mixed polyposis syndromeHP:0040282 - Frequent385
HP:0100743HP:0200063Colorectal polyposis1BMPR1A CL E G H6571076ORPHA:157794Hereditary mixed polyposis syndromeHP:0040282 - Frequent385
HP:0100743HP:0200063Colorectal polyposis1CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional289
HP:0100743HP:0200063Colorectal polyposis1CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional833
HP:0100743HP:0200063Colorectal polyposis1DICER1 CL E G H2340517098ORPHA:276399Familial multinodular goiterHP:0040282 - Frequent670
HP:0100743HP:0100896Rectal polyposis1ENG CL E G H20223349ORPHA:329971Generalized juvenile polyposis/juvenile polyposis coliHP:0040282 - Frequent186
HP:0100743HP:0100896Rectal polyposis1GREM1 CL E G H265852001ORPHA:157794Hereditary mixed polyposis syndromeHP:0040282 - Frequent9
HP:0100743HP:0200063Colorectal polyposis1GREM1 CL E G H265852001ORPHA:157794Hereditary mixed polyposis syndromeHP:0040282 - Frequent9
HP:0100743HP:0200063Colorectal polyposis1KEAP1 CL E G H981723177ORPHA:276399Familial multinodular goiterHP:0040282 - Frequent
HP:0100743HP:0200063Colorectal polyposis1KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040281 - Very frequent1
HP:0100743HP:0200063Colorectal polyposis1MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional1
HP:0100743HP:0200063Colorectal polyposis1MSH3 CL E G H44377326ORPHA:480536MSH3-related attenuated familial adenomatous polyposisHP:0040281 - Very frequent5
HP:0100743HP:0200063Colorectal polyposis1MUTYH CL E G H45957527ORPHA:247798MUTYH-related attenuated familial adenomatous polyposisHP:0040281 - Very frequent592
HP:0100743HP:0100896Rectal polyposis1MUTYH CL E G H45957527ORPHA:247798MUTYH-related attenuated familial adenomatous polyposisHP:0040282 - Frequent592
HP:0100743HP:0200063Colorectal polyposis1PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040281 - Very frequent162
HP:0100743HP:0200063Colorectal polyposis1POLD1 CL E G H54249175OMIM:612591Colorectal cancer, susceptibility to, 10.731
HP:0100743HP:0200063Colorectal polyposis1POLD1 CL E G H54249175ORPHA:447877Polymerase proofreading-related adenomatous polyposisHP:0040282 - Frequent731
HP:0100743HP:0200063Colorectal polyposis1POLE CL E G H54269177OMIM:615083Colorectal cancer, susceptibility to, 12.1129
HP:0100743HP:0200063Colorectal polyposis1POLE CL E G H54269177ORPHA:447877Polymerase proofreading-related adenomatous polyposisHP:0040282 - Frequent1129
HP:0100743HP:0200063Colorectal polyposis1PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040281 - Very frequent948
HP:0100743HP:0200063Colorectal polyposis1RNF43 CL E G H5489418505ORPHA:157798Serrated polyposis syndromeHP:0040281 - Very frequent5
HP:0100743HP:0200063Colorectal polyposis1SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040281 - Very frequent237
HP:0100743HP:0200063Colorectal polyposis1SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040281 - Very frequent147
HP:0100743HP:0200063Colorectal polyposis1SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040281 - Very frequent129
HP:0100743HP:0200063Colorectal polyposis1SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040281 - Very frequent60
HP:0100743HP:0100896Rectal polyposis1SMAD4 CL E G H40896770ORPHA:329971Generalized juvenile polyposis/juvenile polyposis coliHP:0040282 - Frequent504
HP:0100743HP:0200063Colorectal polyposis1TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional911
HP:0100743HP:0200063Colorectal polyposis1USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040281 - Very frequent1


Genes (45) :AKT1 APC AXIN2 BMPR1A CDKN2A CHEK2 DICER1 ENG EPCAM FAN1 GREM1 KEAP1 KIT KLLN KRAS MDM2 MLH1 MLH3 MSH2 MSH3 MSH6 MUTYH NTHL1 PDE11A PDGFRA PIK3CA PMS1 PMS2 POLD1 POLE PRKAR1A PTEN RNF43 RPS20 SDHA SDHB SDHC SDHD SEC23B SEMA4A SMAD4 STK11 TGFBR2 TP53 USF3

Diseases (20) :ORPHA:201 OMIM:135290 ORPHA:401911 ORPHA:440437 ORPHA:329971 ORPHA:157794 ORPHA:524 ORPHA:276399 ORPHA:144 ORPHA:44890 ORPHA:480536 OMIM:619097 ORPHA:247798 ORPHA:454840 ORPHA:1359 OMIM:612591 ORPHA:447877 OMIM:615083 ORPHA:157798 ORPHA:2869
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.