{ "id": "A6NET4-1.44.44", "start_pos": 44, "end_pos": 44, "up_seq": "KTVLFVVFFAIYLITMVGNI", "site_seq": "G", "down_seq": "LVALIYIEQRLHTPMYIFLG", "uniprot_canonical_ac": "A6NET4-1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NET4", "url": "https://www.uniprot.org/uniprot/A6NET4" } ], "common_name": "Human" } ], "snv": [ { "evidence": [ { "id": "A6NET4", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NET4" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (6).", "chr_id": "3", "chr_pos": "98390796", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0007254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007254", "name": "breast cancer", "description": "A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males." }, { "id": "MONDO:0007254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007254", "name": "malignant tumor of the breast", "description": "" }, { "id": "MONDO:0007254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007254", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0007254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007254", "name": "malignant tumor of breast", "description": "" }, { "id": "MONDO:0007254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007254", "name": "mammary tumor", "description": "" }, { "id": "MONDO:0007254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007254", "name": "malignant neoplasm of breast", "description": "" }, { "id": "MONDO:0007254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007254", "name": "cancer of breast", "description": "" }, { "id": "MONDO:0007254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007254", "name": "malignant breast tumor", "description": "" }, { "id": "MONDO:0007254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007254", "name": "malignant neoplasm of the breast", "description": "" }, { "id": "MONDO:0007254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007254", "name": "malignant breast neoplasm", "description": "" }, { "id": "MONDO:0007254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007254", "name": "breast cancer", "description": "" }, { "id": "MONDO:0007254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007254", "name": "breast tumor", "description": "" }, { "id": "MONDO:0007254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007254", "name": "mammary neoplasm", "description": "" }, { "id": "MONDO:0007254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007254", "name": "mammary cancer", "description": "" }, { "id": "MONDO:0007254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007254", "name": "breast cancer", "description": "A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males." }, { "id": "MONDO:0007254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007254", "name": "malignant tumor of the breast", "description": "" }, { "id": "MONDO:0007254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007254", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0007254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007254", "name": "malignant tumor of breast", "description": "" }, { "id": "MONDO:0007254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007254", "name": "mammary tumor", "description": "" }, { "id": "MONDO:0007254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007254", "name": "malignant neoplasm of breast", "description": "" }, { "id": "MONDO:0007254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007254", "name": "cancer of breast", "description": "" }, { "id": "MONDO:0007254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007254", "name": "malignant breast tumor", "description": "" }, { "id": "MONDO:0007254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007254", "name": "malignant neoplasm of the breast", "description": "" }, { "id": "MONDO:0007254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007254", "name": "malignant breast neoplasm", "description": "" }, { "id": "MONDO:0007254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007254", "name": "breast cancer", "description": "" }, { "id": "MONDO:0007254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007254", "name": "breast tumor", "description": "" }, { "id": "MONDO:0007254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007254", "name": "mammary neoplasm", "description": "" }, { "id": "MONDO:0007254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007254", "name": "mammary cancer", "description": "" }, { "id": "MONDO:0010804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010804", "name": "obsolete BRCATA", "description": "" }, { "id": "MONDO:0010804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010804", "name": "moved to 114480", "description": "" }, { "id": "MONDO:0010804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010804", "name": "BRCATA", "description": "" }, { "id": "MONDO:0010804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010804", "name": "breast cancer, 11-22 translocation-associated", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005008", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005008", "name": "colorectal adenocarcinoma", "description": "The most common type of colorectal carcinoma. It is characterized by the presence of malignant glandular epithelial cells invading through the muscularis mucosa into the submucosa. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." }, { "id": "MONDO:0005008", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005008", "name": "adenocarcinoma of the large intestine", "description": "" }, { "id": "MONDO:0005008", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005008", "name": "large bowel adenocarcinoma", "description": "" }, { "id": "MONDO:0005008", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005008", "name": "adenocarcinoma of large intestine", "description": "" }, { "id": "MONDO:0005008", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005008", "name": "colorectal adenocarcinoma", "description": "" }, { "id": "MONDO:0005008", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005008", "name": "colorectum adenocarcinoma", "description": "" }, { "id": "MONDO:0005008", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005008", "name": "adenocarcinoma of the large bowel", "description": "" }, { "id": "MONDO:0005008", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005008", "name": "large intestine adenocarcinoma", "description": "" }, { "id": "MONDO:0005008", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005008", "name": "colorectal (colon or rectal) adenocarcinoma", "description": "" }, { "id": "MONDO:0005008", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005008", "name": "adenocarcinoma of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005335", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005335", "name": "colorectal neoplasm", "description": "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." }, { "id": "MONDO:0005335", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005335", "name": "colorectal tumor", "description": "" }, { "id": "MONDO:0005335", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005335", "name": "neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005335", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005335", "name": "neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005335", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005335", "name": "neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005335", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005335", "name": "large bowel neoplasm", "description": "" }, { "id": "MONDO:0005335", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005335", "name": "colorectum tumor", "description": "" }, { "id": "MONDO:0005335", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005335", "name": "large intestinal neoplasm", "description": "" }, { "id": "MONDO:0005335", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005335", "name": "colorectum neoplasm", "description": "" }, { "id": "MONDO:0005335", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005335", "name": "large bowel tumor", "description": "" }, { "id": "MONDO:0005335", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005335", "name": "colorectal neoplasm", "description": "" }, { "id": "MONDO:0005335", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005335", "name": "tumor of the large bowel", "description": "" }, { "id": "MONDO:0005335", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005335", "name": "tumor of colorectum", "description": "" }, { "id": "MONDO:0005335", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005335", "name": "colorectum neoplasm (disease)", "description": "" }, { "id": "MONDO:0005335", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005335", "name": "tumor of large bowel", "description": "" }, { "id": "MONDO:0005335", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005335", "name": "large intestine tumor", "description": "" }, { "id": "MONDO:0005335", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005335", "name": "large intestine neoplasm", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" }, { "id": "MIM:114500", "resource": "MIM", "url": 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