Preferred Name

ENDOMETRIAL CANCER

ID

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

cui

C0476089

Gene Locus

14q24.3

Gene Symbol

MLH3

HNPCC7

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

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 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]

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

tui

T191

Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_1380 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_1380 Cell Line Ontology Subset for Chinese National Infrastructure of Cell Line Resource (NICR) / 国家实验细胞资源共享服务平台(NICR)细胞系本体子集 LOOM
http://purl.obolibrary.org/obo/DOID_1380 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/MESH/D016889 Medical Subject Headings / 医学主题词表 CUI
http://purl.obolibrary.org/obo/MONDO_0011962 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0011962 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0007103 MedlinePlus Health Topics / MedlinePlus网站健康主题 LOOM
http://purl.bioontology.org/ontology/LNC/LA15683-8 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/LNC/LA15683-8 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM