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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Gastrointestinal carcinoma (HP:0002672)help
Parent Node:
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Neoplasm of the large intestine (HP:0100834)help
..Starting node
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Hereditary nonpolyposis colorectal carcinoma (HP:0006716)help
Term ID: 6716
Name: Hereditary nonpolyposis colorectal carcinoma
Synonym:
Definition:
Comments:
Reference: HP:0006716
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAdenocarcinoma of the large intestine (HP:0040275) help
..expandAnal canal neoplasm (HP:0030437) 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:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0AKT1 CL E G H207391OMIM:114500Colorectal cancer.54
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0APC CL E G H324583OMIM:114500Colorectal cancer.3179
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0AURKA CL E G H679011393OMIM:114500Colorectal cancer.1
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0AXIN2 CL E G H8313904OMIM:114500Colorectal cancer.435
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0BAX CL E G H581959OMIM:114500Colorectal cancer.4
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0BRAF CL E G H6731097OMIM:114500Colorectal cancer.276
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0BUB1 CL E G H6991148OMIM:114500Colorectal cancer.5
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0BUB1B CL E G H7011149OMIM:114500Colorectal cancer.76
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0CCND1 CL E G H5951582OMIM:114500Colorectal cancer.1
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0CHEK2 CL E G H1120016627OMIM:114500Colorectal cancer.833
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0CTNNB1 CL E G H14992514OMIM:114500Colorectal cancer.88
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0DCC CL E G H16302701OMIM:114500Colorectal cancer.36
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0DLC1 CL E G H103952897OMIM:114500Colorectal cancer.11
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0EP300 CL E G H20333373OMIM:114500Colorectal cancer.250
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0EPCAM CL E G H407211529OMIM:613244Colorectal cancer, hereditary nonpolyposis, type 8.170
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0FGFR3 CL E G H22613690OMIM:114500Colorectal cancer.145
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0FLCN CL E G H20116327310OMIM:114500Colorectal cancer.332
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0MCC CL E G H41636935OMIM:114500Colorectal cancer.6
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0MLH3 CL E G H270307128OMIM:114500Colorectal cancer.131
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0MLH3 CL E G H270307128OMIM:614385Colorectal cancer, hereditary nonpolyposis, type 7.131
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0MSH6 CL E G H29567329OMIM:614350Colorectal cancer, hereditary nonpolyposis, type 5.2232
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0NRAS CL E G H48937989OMIM:114500Colorectal cancer.102
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0PDGFRL CL E G H51578805OMIM:114500Colorectal cancer.2
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0PIK3CA CL E G H52908975OMIM:114500Colorectal cancer.162
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0PLA2G2A CL E G H53209031OMIM:114500Colorectal cancer.1
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0PMS2 CL E G H53959122OMIM:614337Colorectal cancer, hereditary nonpolyposis, type 4.1121
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0PTPN12 CL E G H57829645OMIM:114500Colorectal cancer.1
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0PTPRJ CL E G H57959673OMIM:114500Colorectal cancer.3
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0RAD54B CL E G H2578817228OMIM:114500Colorectal cancer.2
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0SRC CL E G H671411283OMIM:114500Colorectal cancer.15
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0TGFBR2 CL E G H704811773OMIM:614331COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6; HNPCC6253
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0TLR2 CL E G H709711848OMIM:114500Colorectal cancer.5
HP:0006716HP:0006716Hereditary nonpolyposis colorectal carcinoma0TP53 CL E G H715711998OMIM:114500Colorectal cancer.911


Genes (32) :AKT1 APC AURKA AXIN2 BAX BRAF BUB1 BUB1B CCND1 CHEK2 CTNNB1 DCC DLC1 EP300 EPCAM FGFR3 FLCN MCC MLH3 MSH6 NRAS PDGFRL PIK3CA PLA2G2A PMS2 PTPN12 PTPRJ RAD54B SRC TGFBR2 TLR2 TP53

Diseases (6) :OMIM:114500 OMIM:613244 OMIM:614385 OMIM:614350 OMIM:614337 OMIM:614331
 

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