Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

ENDOMETRIAL CANCER

Synonyms
ID

http://purl.bioontology.org/ontology/OMIM/608089

cui

C0476089

Gene Locus

14q24.3

Gene Symbol

HNPCC7

MLH3

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU050872

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

608089

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

ENDOMETRIAL CANCER

Scope Statement

Caused by somatic mutation in the mutS homolog 6 gene (MSH6, 600678.0005) [MOLECULAR BASIS]

Often seen in cancer predisposition syndromes such as hereditary nonpolyposis colorectal cancer (see 614350 and 604395) [MISCELLANEOUS]

Caused by somatic mutation in the cadherin 1 gene (CDH1, 192090.0001) [MOLECULAR BASIS]

Susceptibility conferred by mutation in the DNA mismatch repair protein MLH3 gene (MLH3, 604395.0006) [MOLECULAR BASIS]

Caused by somatic mutation in the mutS homolog 3 gene (MSH3, 600887.0001) [MOLECULAR BASIS]

tui

T191

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MSHFRE/D016889 MSHFRE CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000038737 PDQ CUI
http://purl.bioontology.org/ontology/MDRFRE/10007063 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/254878006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10007342 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10014733 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10014743 MDRFRE CUI
http://purl.bioontology.org/ontology/LNC/LA15683-8 LOINC CUI
http://purl.bioontology.org/ontology/MEDDRA/10007063 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10014735 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10014735 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/254878006 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10014743 MEDDRA CUI
http://purl.bioontology.org/ontology/ICPC2P/X77007 ICPC2P CUI
http://purl.bioontology.org/ontology/MDRFRE/10014733 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D016889 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10007063 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10014733 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10014735 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10007342 MDRGER CUI
http://purl.bioontology.org/ontology/RCD/X78XO RCD CUI
http://purl.bioontology.org/ontology/CST/CARCINOMA%20ENDOMETR COSTART CUI
http://purl.bioontology.org/ontology/CSP/2016-1566 CRISP CUI
http://purl.bioontology.org/ontology/MDRGER/10014743 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10007342 MEDDRA CUI
http://purl.obolibrary.org/obo/MONDO_0011962 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0011962 OBA LOOM
http://purl.obolibrary.org/obo/MONDO_0011962 EFO LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0007103 MEDLINEPLUS LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000038737 PDQ LOOM
http://purl.obolibrary.org/obo/MONDO_0011962 DOVES LOOM
http://purl.obolibrary.org/obo/DOID_1380 CLO LOOM
http://purl.obolibrary.org/obo/DOID_1380 OHPI LOOM
http://purl.obolibrary.org/obo/DOID_1380 DTO LOOM
http://purl.obolibrary.org/obo/DOID_1380 DOID LOOM
http://purl.obolibrary.org/obo/DOID_1380 BAO LOOM
http://purl.obolibrary.org/obo/DOID_1380 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1380 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1380 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_1380 FNS-H LOOM
http://radlex.org/RID/RID45685 RADLEX LOOM
http://purl.bioontology.org/ontology/LNC/LA15683-8 LOINC LOOM
urn:agi-folder:endometrial_cancer BPT LOOM
http://identifiers.org/omim/608089 REXO LOOM
http://identifiers.org/omim/608089 GEXO LOOM
http://identifiers.org/omim/608089 RETO LOOM
urn:agi-pathway:uuid-a6fb71ab-7ba8-44d2-8bff-a548522abca4 BPT LOOM
http://purl.bioontology.org/ontology/MEDDRA/10014733 MEDDRA LOOM
http://purl.obolibrary.org/obo/OMIM_608089 CCO LOOM