Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal uterus morphology (HP:0031105)help
Grandparent Node:
expand
Genital neoplasm (HP:0010787)help
Parent Node:
expand
Abnormal endometrium morphology (HP:0030126)help
Parent Node:
expand
Uterine neoplasm (HP:0010784)help
..Starting node
..expand
Endometrial carcinoma (HP:0012114)help
Term ID: 12114
Name: Endometrial carcinoma
Synonym:
Definition: A carcinoma of the endometrium, the mucous lining of the uterus.
Comments:
Reference: HP:0012114
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCervix cancer (HP:0030079) help
..expandUterine leiomyoma (HP:0000131) help
..expandUterine leiomyosarcoma (HP:0002891) 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:0012114HP:0012114Endometrial carcinoma0AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040283 - Occasional54
HP:0012114HP:0012114Endometrial carcinoma0BMPR1A CL E G H6571076ORPHA:157794Hereditary mixed polyposis syndromeHP:0040284 - Very rare385
HP:0012114HP:0012114Endometrial carcinoma0CDH1 CL E G H9991748OMIM:608089Endometrial carcinoma, somatic.1003
HP:0012114HP:0012114Endometrial carcinoma0EPCAM CL E G H407211529OMIM:613244Colorectal cancer, hereditary nonpolyposis, type 8170
HP:0012114HP:0012114Endometrial carcinoma0GREM1 CL E G H265852001ORPHA:157794Hereditary mixed polyposis syndromeHP:0040284 - Very rare9
HP:0012114HP:0012114Endometrial carcinoma0KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040283 - Occasional1
HP:0012114HP:0012114Endometrial carcinoma0MLH1 CL E G H42927127ORPHA:587Muir-Torre syndromeHP:0040283 - Occasional1819
HP:0012114HP:0012114Endometrial carcinoma0MLH3 CL E G H270307128OMIM:608089Endometrial carcinoma, somatic.131
HP:0012114HP:0012114Endometrial carcinoma0MSH2 CL E G H44367325ORPHA:587Muir-Torre syndromeHP:0040283 - Occasional2162
HP:0012114HP:0012114Endometrial carcinoma0MSH3 CL E G H44377326OMIM:608089Endometrial carcinoma, somatic.5
HP:0012114HP:0012114Endometrial carcinoma0MSH6 CL E G H29567329OMIM:614350Colorectal cancer, hereditary nonpolyposis, type 5.2232
HP:0012114HP:0012114Endometrial carcinoma0MSH6 CL E G H29567329OMIM:608089Endometrial carcinoma, somatic.2232
HP:0012114HP:0012114Endometrial carcinoma0MSH6 CL E G H29567329ORPHA:587Muir-Torre syndromeHP:0040283 - Occasional2232
HP:0012114HP:0012114Endometrial carcinoma0NTHL1 CL E G H49138028OMIM:616415Familial adenomatous polyposis 32
HP:0012114HP:0012114Endometrial carcinoma0NTHL1 CL E G H49138028ORPHA:454840NTHL1-related attenuated familial adenomatous polyposisHP:0040282 - Frequent2
HP:0012114HP:0012114Endometrial carcinoma0PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040283 - Occasional162
HP:0012114HP:0012114Endometrial carcinoma0PMS2 CL E G H53959122OMIM:614337Colorectal cancer, hereditary nonpolyposis, type 4.1121
HP:0012114HP:0012114Endometrial carcinoma0POLD1 CL E G H54249175OMIM:612591Colorectal cancer, susceptibility to, 10.731
HP:0012114HP:0012114Endometrial carcinoma0POLD1 CL E G H54249175ORPHA:447877Polymerase proofreading-related adenomatous polyposisHP:0040282 - Frequent731
HP:0012114HP:0012114Endometrial carcinoma0POLE CL E G H54269177ORPHA:447877Polymerase proofreading-related adenomatous polyposisHP:0040282 - Frequent1129
HP:0012114HP:0012114Endometrial carcinoma0PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040283 - Occasional948
HP:0012114HP:0012114Endometrial carcinoma0SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040283 - Occasional237
HP:0012114HP:0012114Endometrial carcinoma0SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040283 - Occasional147
HP:0012114HP:0012114Endometrial carcinoma0SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040283 - Occasional129
HP:0012114HP:0012114Endometrial carcinoma0SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040283 - Occasional60
HP:0012114HP:0012114Endometrial carcinoma0SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndromeHP:0040283 - Occasional12
HP:0012114HP:0012114Endometrial carcinoma0USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040283 - Occasional1


Genes (23) :AKT1 BMPR1A CDH1 EPCAM GREM1 KLLN MLH1 MLH3 MSH2 MSH3 MSH6 NTHL1 PIK3CA PMS2 POLD1 POLE PTEN SDHB SDHC SDHD SEC23B SLC6A17 USF3

Diseases (12) :ORPHA:201 ORPHA:157794 OMIM:608089 OMIM:613244 ORPHA:587 OMIM:614350 OMIM:616415 ORPHA:454840 OMIM:614337 OMIM:612591 ORPHA:447877 ORPHA:457212
 

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