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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Adenocarcinoma of the intestines (HP:0040273)help
Parent Node:
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Neoplasm of the large intestine (HP:0100834)help
..Starting node
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Adenocarcinoma of the large intestine (HP:0040275)help
Term ID: 40275
Name: Adenocarcinoma of the large intestine
Synonym:
Definition: A malignant epithelial tumor with a glandular organization that originates in the large intestine.
Comments:
Reference: HP:0040275
Genes and Diseases:
 
       Child Nodes:
........expandAnal canal adenocarcinoma (HP:0030439) help
........expandAdenocarcinoma of the colon (HP:0040276) help

 Sister Nodes: 
..expandAnal canal neoplasm (HP:0030437) help
..expandHereditary nonpolyposis colorectal carcinoma (HP:0006716) help
..expandNeoplasm of the colon (HP:0100273) help
..expandNeoplasm of the rectum (HP:0100743) 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:0040275HP:0040275Adenocarcinoma of the large intestine0AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 17
HP:0040275HP:0040275Adenocarcinoma of the large intestine0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemia22
HP:0040275HP:0040275Adenocarcinoma of the large intestine0BMPR1A CL E G H6571076ORPHA:157794Hereditary mixed polyposis syndrome385
HP:0040275HP:0040275Adenocarcinoma of the large intestine0COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 12
HP:0040275HP:0040275Adenocarcinoma of the large intestine0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemia29
HP:0040275HP:0040275Adenocarcinoma of the large intestine0GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional2
HP:0040275HP:0040275Adenocarcinoma of the large intestine0GREM1 CL E G H265852001ORPHA:157794Hereditary mixed polyposis syndrome9
HP:0040275HP:0040275Adenocarcinoma of the large intestine0MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0040275HP:0040275Adenocarcinoma of the large intestine0MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional1
HP:0040275HP:0040275Adenocarcinoma of the large intestine0MUTYH CL E G H45957527ORPHA:247798MUTYH-related attenuated familial adenomatous polyposis592
HP:0040275HP:0040275Adenocarcinoma of the large intestine0POLD1 CL E G H54249175ORPHA:447877Polymerase proofreading-related adenomatous polyposis731
HP:0040275HP:0040275Adenocarcinoma of the large intestine0POLE CL E G H54269177ORPHA:447877Polymerase proofreading-related adenomatous polyposis1129
HP:0040275HP:0040275Adenocarcinoma of the large intestine0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemia22
HP:0040275HP:0040275Adenocarcinoma of the large intestine0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemia3
HP:0040275HP:0040275Adenocarcinoma of the large intestine0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemia
HP:0040275HP:0040275Adenocarcinoma of the large intestine0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemia3
HP:0040275HP:0040275Adenocarcinoma of the large intestine0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemia1
HP:0040275HP:0040275Adenocarcinoma of the large intestine0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemia
HP:0040275HP:0040275Adenocarcinoma of the large intestine0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemia
HP:0040275HP:0040275Adenocarcinoma of the large intestine0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemia11
HP:0040275HP:0040275Adenocarcinoma of the large intestine0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemia40
HP:0040275HP:0040275Adenocarcinoma of the large intestine0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemia26
HP:0040275HP:0040275Adenocarcinoma of the large intestine0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemia
HP:0040275HP:0040275Adenocarcinoma of the large intestine0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemia5
HP:0040275HP:0040275Adenocarcinoma of the large intestine0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemia42
HP:0040275HP:0040275Adenocarcinoma of the large intestine0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemia1
HP:0040275HP:0040275Adenocarcinoma of the large intestine0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemia22
HP:0040275HP:0040275Adenocarcinoma of the large intestine0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemia20
HP:0040275HP:0040275Adenocarcinoma of the large intestine0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemia1
HP:0040275HP:0040275Adenocarcinoma of the large intestine0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemia1
HP:0040275HP:0040275Adenocarcinoma of the large intestine0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemia3
HP:0040275HP:0040275Adenocarcinoma of the large intestine0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemia20
HP:0040275HP:0040275Adenocarcinoma of the large intestine0SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional
HP:0040275HP:0040275Adenocarcinoma of the large intestine0TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional241
HP:0040275HP:0040275Adenocarcinoma of the large intestine0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemia1
HP:0040275HP:0030439Anal canal adenocarcinoma1 CL E G H
HP:0040275HP:0040276Adenocarcinoma of the colon1AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040284 - Very rare7
HP:0040275HP:0040276Adenocarcinoma of the colon1ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0040275HP:0040276Adenocarcinoma of the colon1BMPR1A CL E G H6571076ORPHA:157794Hereditary mixed polyposis syndromeHP:0040283 - Occasional385
HP:0040275HP:0040276Adenocarcinoma of the colon1COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040284 - Very rare2
HP:0040275HP:0040276Adenocarcinoma of the colon1GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare29
HP:0040275HP:0040276Adenocarcinoma of the colon1GREM1 CL E G H265852001ORPHA:157794Hereditary mixed polyposis syndromeHP:0040283 - Occasional9
HP:0040275HP:0040276Adenocarcinoma of the colon1MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0040275HP:0040276Adenocarcinoma of the colon1MUTYH CL E G H45957527ORPHA:247798MUTYH-related attenuated familial adenomatous polyposisHP:0040282 - Frequent592
HP:0040275HP:0040276Adenocarcinoma of the colon1POLD1 CL E G H54249175ORPHA:447877Polymerase proofreading-related adenomatous polyposisHP:0040283 - Occasional731
HP:0040275HP:0040276Adenocarcinoma of the colon1POLE CL E G H54269177ORPHA:447877Polymerase proofreading-related adenomatous polyposisHP:0040283 - Occasional1129
HP:0040275HP:0040276Adenocarcinoma of the colon1RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0040275HP:0040276Adenocarcinoma of the colon1RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0040275HP:0040276Adenocarcinoma of the colon1RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0040275HP:0040276Adenocarcinoma of the colon1RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0040275HP:0040276Adenocarcinoma of the colon1RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0040275HP:0040276Adenocarcinoma of the colon1RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0040275HP:0040276Adenocarcinoma of the colon1RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0040275HP:0040276Adenocarcinoma of the colon1RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare11
HP:0040275HP:0040276Adenocarcinoma of the colon1RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare40
HP:0040275HP:0040276Adenocarcinoma of the colon1RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare26
HP:0040275HP:0040276Adenocarcinoma of the colon1RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0040275HP:0040276Adenocarcinoma of the colon1RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare5
HP:0040275HP:0040276Adenocarcinoma of the colon1RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare42
HP:0040275HP:0040276Adenocarcinoma of the colon1RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0040275HP:0040276Adenocarcinoma of the colon1RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0040275HP:0040276Adenocarcinoma of the colon1RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0040275HP:0040276Adenocarcinoma of the colon1RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0040275HP:0040276Adenocarcinoma of the colon1RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0040275HP:0040276Adenocarcinoma of the colon1RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0040275HP:0040276Adenocarcinoma of the colon1RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0040275HP:0040276Adenocarcinoma of the colon1TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1


Genes (35) :AAGAB ADA2 BMPR1A COL14A1 GATA1 GPR35 GREM1 MLH1 MST1 MUTYH POLD1 POLE RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SEMA4D TCF4 TSR2

Diseases (7) :ORPHA:79501 ORPHA:124 ORPHA:157794 ORPHA:171 OMIM:276300 ORPHA:247798 ORPHA:447877
 

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