{ "id": 7022, "label": "colorectal neoplasm", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0005335", "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." }, "isLeaf": false, "isRoot": false, "child_count": 9, "parents": [ { "id": 20357, "label": "intestinal neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 6756, 20434 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4610", "MEDGEN:43932", "NCIT:C3141", "ONCOTREE:BOWEL", "SCTID:126769007", "UMLS:C0021841" ], "synonyms": [ "intestinal neoplasm", "intestinal neoplasms", "intestinal tumor", "intestinal tumors", "intestinal tumour", "intestinal tumours", "intestine neoplasm", "intestine neoplasm (disease)", "intestine tumor", "intestine tumour", "neoplasm of intestine", "neoplasm of intestines", "neoplasm of the intestines", "tumor of intestine", "tumor of intestines", "tumor of the intestines", "tumour of intestine", "tumour of intestines", "tumour of the intestines", "bowel neoplasm", "intestinal benign neoplasm" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A benign or malignant neoplasm involving the small or large intestine." }, "child_count": 12, "reference_id": "MONDO:0021118" }, { "id": 21545, "label": "large intestine disorder", "isLeaf": false, "isRoot": false, "parents": [ 6756 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:574315", "SCTID:119523007", "UMLS:C0341321" ], "synonyms": [ "disease of large intestine", "disease or disorder of large intestine", "disorder of large intestine", "large intestine disease or disorder" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A disease that involves the large intestine." }, "child_count": 11, "reference_id": "MONDO:0024634" } ], "children": [ { "id": 4291, "label": "rectal neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 3792, 7022 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1984", "MEDGEN:11148", "MESH:D012004", "NCIT:C3350", "SCTID:126847008", "UMLS:C0034885" ], "synonyms": [ "neoplasm of rectum", "neoplasm of the rectum", "rectal neoplasm", "rectal tumor", "rectal tumour", "rectum neoplasm (disease)", "rectum tumor", "rectum tumour", "tumor of rectum", "tumor of the rectum", "tumour of rectum", "tumour of the rectum" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A benign or malignant neoplasm that affects the rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." }, "child_count": 8, "reference_id": "MONDO:0002165" }, { "id": 5240, "label": "colorectal leiomyoma", "isLeaf": false, "isRoot": false, "parents": [ 3776, 7022, 20567 ], "type_id": 0, "properties": { "xrefs": [ "DOID:5143", "MEDGEN:272497", "NCIT:C5677", "UMLS:C1333113" ], "synonyms": [ "colorectal leiomyoma", "colorectum leiomyoma", "large intestine leiomyoma", "leiomyoma of large bowel", "leiomyoma of the large bowel", "leiomyoma of the large intestine" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A well-circumscribed benign smooth muscle neoplasm arising from the colorectal area. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." }, "child_count": 6, "reference_id": "MONDO:0003299" }, { "id": 7078, "label": "colonic neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 5340, 7022 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0004288", "MEDGEN:3165", "MESH:D003110", "NCIT:C2953", "UMLS:C0009375" ], "synonyms": [ "colon neoplasm", "colon neoplasm (disease)", "colon tumor", "colon tumour", "colonic neoplasm", "colonic tumor", "colonic tumour", "neoplasm of colon", "neoplasm of the colon", "tumor of colon", "tumor of the colon", "tumour of colon", "tumour of the colon" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." }, "child_count": 16, "reference_id": "MONDO:0005401" }, { "id": 7140, "label": "colorectal adenoma", "isLeaf": false, "isRoot": false, "parents": [ 7022, 7737 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050860", "DOID:0050914", "EFO:0005406", "MEDGEN:224904", "NCIT:C5673", "SCTID:399432003", "UMLS:C1302401" ], "synonyms": [ "adenoma of large bowel", "adenoma of large intestine", "adenoma of the large bowel", "adenoma of the large intestine", "colorectal adenoma", "colorectum adenoma", "large bowel adenoma" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." }, "child_count": 8, "reference_id": "MONDO:0005484" }, { "id": 7221, "label": "colorectal cancer", "isLeaf": false, "isRoot": false, "parents": [ 7022, 7430 ], "type_id": 0, "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." }, "child_count": 10, "reference_id": "MONDO:0005575" }, { "id": 7720, "label": "colorectal gastrointestinal stromal tumor", "isLeaf": true, "isRoot": false, "parents": [ 7022 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1000192", "MEDGEN:272496", "NCIT:C27735", "UMLS:C1333109" ], "synonyms": [ "colorectal (colon or rectal) gastrointestinal stromal tumor (gist)", "colorectal (colon or rectal) gastrointestinal stromal tumour (gist)", "colorectal gastrointestinal stromal tumor", "colorectal gastrointestinal stromal tumor (gist)", "colorectal gastrointestinal stromal tumour (gist)", "colorectal gist" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course." }, "child_count": 0, "reference_id": "MONDO:0006159" }, { "id": 7721, "label": "colorectal hamartoma", "isLeaf": false, "isRoot": false, "parents": [ 7022, 7784, 20546 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1000193", "MEDGEN:474434", "NCIT:C96474", "UMLS:C3272801" ], "synonyms": [ "colorectal hamartoma", "colorectum hamartoma (disease)", "large intestinal hamartoma" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp." }, "child_count": 3, "reference_id": "MONDO:0006160" }, { "id": 7723, "label": "colorectal neuroendocrine tumor G1", "isLeaf": false, "isRoot": false, "parents": [ 7022, 20650 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1000195", "GARD:0024315", "MEDGEN:474244", "NCIT:C96160", "UMLS:C3272611" ], "synonyms": [ "colorectal NET G1", "colorectal carcinoid tumor", "colorectal carcinoid tumour", "colorectal neuroendocrine tumor G1", "colorectum NET G1", "colorectum carcinoid tumor", "colorectum carcinoid tumour", "colorectum neuroendocrine neoplasm G1", "colorectum neuroendocrine tumor, well differentiated, low grade", "grade 1 neuroendocrine neoplasm of colorectum", "large intestinal neuroendocrine tumor G1", "large intestinal neuroendocrine tumour G1" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." }, "child_count": 4, "reference_id": "MONDO:0006162" }, { "id": 7936, "label": "small intestinal intraepithelial neoplasia", "isLeaf": true, "isRoot": false, "parents": [ 6071, 7022, 21429 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:236822", "NCIT:C27462", "UMLS:C1335999" ], "synonyms": [ "small intestinal dysplasia", "small intestinal intraepithelial neoplasia" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A precancerous neoplastic process that affects the small intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion." }, "child_count": 0, "reference_id": "MONDO:0006419" } ], "roots": [ { "id": 20357, "label": "intestinal neoplasm" }, { "id": 21545, "label": "large intestine disorder" } ] }