{ "id": 7221, "label": "colorectal cancer", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0005575", "properties": { "xrefs": [ "DOID:5672", "DOID:9256", "MEDGEN:83428", "NCIT:C4978", "OMIM:114500", "Orphanet:466667", "SCTID:363510005", "UMLS:C0346629" ], "synonyms": [ "cancer of colorectum", "cancer of large bowel", "cancer of large intestine", "cancer of the large bowel", "colon cancer, advanced, somatic", "colon cancer, somatic", "colorectal cancer", "colorectal cancer with chromosomal instability, somatic", "colorectal cancer, autosomal dominant, somatic mutation", "colorectal cancer, somatic", "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "colorectum cancer", "malignant colorectal neoplasm", "malignant colorectal tumor", "malignant colorectal tumour", "malignant colorectum neoplasm", "malignant large bowel neoplasm", "malignant large bowel tumor", "malignant large bowel tumour", "malignant large intestine neoplasm", "malignant large intestine tumor", "malignant large intestine tumour", "malignant neoplasm of colorectum", "malignant neoplasm of large bowel", "malignant neoplasm of large intestine", "malignant neoplasm of the large bowel", "malignant neoplasm of the large intestine", "malignant tumor of large bowel", "malignant tumor of large intestine", "malignant tumor of the large bowel", "malignant tumor of the large intestine", "malignant tumour of large bowel", "malignant tumour of large intestine", "malignant tumour of the large bowel", "malignant tumour of the large intestine", "CRC", "colon cancer", "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "large intestine cancer" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, "isLeaf": false, "isRoot": false, "child_count": 5, "parents": [ { "id": 7022, "label": "colorectal neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 20357, 21545 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0004142", "MEDGEN:3171", "MESH:D015179", "NCIT:C2956", "UMLS:C0009404" ], "synonyms": [ "colorectal neoplasm", "colorectal tumor", "colorectal tumour", "colorectum neoplasm", "colorectum neoplasm (disease)", "colorectum tumor", "colorectum tumour", "large bowel neoplasm", "large bowel tumor", "large bowel tumour", "large intestinal neoplasm", "large intestine neoplasm", "large intestine tumor", "large intestine tumour", "neoplasm of colorectum", "neoplasm of large bowel", "neoplasm of the large bowel", "tumor of colorectum", "tumor of large bowel", "tumor of the large bowel", "tumour of colorectum", "tumour of large bowel", "tumour of the large bowel" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A benign or malignant neoplasm that affects the colon or rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colorectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." }, "child_count": 18, "reference_id": "MONDO:0005335" }, { "id": 7430, "label": "intestinal cancer", "isLeaf": false, "isRoot": false, "parents": [ 4587, 20357 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10155", "EFO:0007330", "ICD9:159.0", "MEDGEN:87562", "MESH:D007414", "NCIT:C4572", "SCTID:363508008", "UMLS:C0346627", "icd11.foundation:150210507" ], "synonyms": [ "bowel cancer", "cancer of intestine", "cancer of the intestine", "intestinal cancer", "intestinal neoplasms, malignant", "intestinal tumors, malignant", "intestine cancer", "malignant intestinal neoplasm", "malignant intestinal neoplasms", "malignant intestinal tumor", "malignant intestinal tumors", "malignant intestinal tumour", "malignant intestinal tumours", "malignant intestine neoplasm", "malignant intestine tumor", "malignant intestine tumour", "malignant neoplasm of intestine", "malignant neoplasm of the intestine", "malignant tumor of intestine", "malignant tumor of the intestine", "malignant tumour of intestine", "malignant tumour of the intestine" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A malignant neoplasm involving the intestine" }, "child_count": 12, "reference_id": "MONDO:0005814" } ], "children": [ { "id": 8006, "label": "rectal cancer", "isLeaf": false, "isRoot": false, "parents": [ 4291, 7221 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1993", "EFO:1000657", "ICD10CM:C20", "ICD9:154.1", "MEDGEN:181763", "NCIT:C7418", "SCTID:363351006", "UMLS:C0949022", "icd11.foundation:1113099195" ], "synonyms": [ "carcinoma of rectum", "carcinoma of the rectum", "cancer of rectum", "malignant neoplasm of rectum", "malignant neoplasm of the rectum", "malignant rectal neoplasm", "malignant rectal tumor", "malignant rectal tumour", "malignant rectum neoplasm", "malignant rectum tumour", "malignant tumor of rectum", "malignant tumor of the rectum", "malignant tumour of rectum", "malignant tumour of the rectum", "rectal cancer", "rectum cancer" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A primary or metastatic malignant neoplasm that affects the rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, "child_count": 12, "reference_id": "MONDO:0006519" }, { "id": 20304, "label": "malignant colon neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 7078, 7221 ], "type_id": 0, "properties": { "xrefs": [ "DOID:219", "ICD10CM:C18", "ICD9:153", "ICD9:153.8", "ICD9:153.9", "MEDGEN:2839", "NCIT:C9242", "SCTID:363406005", "UMLS:C0007102", "icd11.foundation:1265576634" ], "synonyms": [ "cancer of colon", "colon cancer", "colon neoplasm, malignant", "colon tumor, malignant", "malignant colon neoplasm", "malignant colon tumor", "malignant colon tumour", "malignant colonic neoplasm", "malignant colonic tumor", "malignant colonic tumour", "malignant neoplasm of colon", "malignant neoplasm of the colon", "malignant tumor of colon", "malignant tumor of the colon", "malignant tumour of colon", "malignant tumour of the colon" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma." }, "child_count": 18, "reference_id": "MONDO:0021063" }, { "id": 21140, "label": "familial colorectal cancer", "isLeaf": false, "isRoot": false, "parents": [ 5714, 7221 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008533" ], "synonyms": [ "hereditary colorectal cancer", "colorectal cancer, familial" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories." }, "child_count": 8, "reference_id": "MONDO:0023113" }, { "id": 21360, "label": "colorectal carcinoma", "isLeaf": false, "isRoot": false, "parents": [ 7221, 7738 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080199", "EFO:1001951", "MEDGEN:3170", "NCIT:C2955", "UMLS:C0009402" ], "synonyms": [ "cancer of large bowel", "cancer of large intestine", "cancer of the large bowel", "cancer of the large intestine", "colorectal (colon or rectal) cancer", "colorectal cancer", "large bowel cancer", "large intestine cancer", "CRC", "carcinoma of colorectum", "carcinoma of large bowel", "carcinoma of large intestine", "carcinoma of the large bowel", "carcinoma of the large intestine", "colorectal carcinoma", "colorectum carcinoma", "large bowel carcinoma", "large intestine carcinoma" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." }, "child_count": 8, "reference_id": "MONDO:0024331" }, { "id": 21564, "label": "colorectal lymphoma", "isLeaf": false, "isRoot": false, "parents": [ 6479, 7221 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025449", "MEDGEN:474455", "NCIT:C96498", "UMLS:C3272822" ], "synonyms": [ "colorectal lymphoma", "large intestinal lymphoma", "large intestine lymphoma", "lymphoma of large intestine", "primary colorectal lymphoma" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "An extranodal lymphoma that arises from the colon or rectum. The majority are B-cell non-Hodgkin lymphomas." }, "child_count": 6, "reference_id": "MONDO:0024656" } ], "roots": [ { "id": 7022, "label": "colorectal neoplasm" }, { "id": 7430, "label": "intestinal cancer" } ] }