{ "uniprot_canonical_ac": "P10361-1", "uniprot_ac": "P10361", "uniprot_id": "P53_RAT", "mass": { "chemical_mass": 43451.0, "monoisotopic_mass": 43451.0 }, "refseq": { "ac": "NP_112251", "name": "cellular tumor antigen p53", "summary": "This gene encodes tumor protein p53, which responds to diverse cellular stresses to regulate target genes that induce cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. p53 protein is expressed at low level in normal cells and at a high level in a variety of transformed cell lines, where it is believed to contribute to transformation and malignancy. p53 is a DNA-binding protein containing transcription activation, DNA-binding, and oligomerization domains. It is postulated to bind to a p53-binding site and activate expression of downstream genes that inhibit growth and/or invasion, and thus function as a tumor suppressor. Alternatively spliced transcript variants have been found for this gene, but the biological validity of the variants has not been determined. p53 pseudogenes have been found on chromosomes 9 and 18. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112251" }, "gene_names": [ { "name": "Tp53", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P10361", "id": "P10361" }, { "name": "P53", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10361", "id": "P10361" }, { "name": "Tp53", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112251", "id": "NP_112251" }, { "name": "p53; Trp53", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112251", "id": "NP_112251" } ], "protein_names": [ { "name": "Cellular tumor antigen p53", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P10361" }, { "name": "Tumor suppressor p53", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10361" }, { "name": "cellular tumor antigen p53", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112251", "id": "NP_112251" }, { "name": "tumor suppressor p53; transformation related protein 53; tumor protein p53 (Li-Fraumeni syndrome)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112251", "id": "NP_112251" } ], "function": [ { "annotation": "Acts as a tumor suppressor in many tumor types; induces growth arrest or apoptosis depending on the physiological circumstances and cell type. Involved in cell cycle regulation as a trans-activator that acts to negatively regulate cell division by controlling a set of genes required for this process. One of the activated genes is an inhibitor of cyclin-dependent kinases. Apoptosis induction seems to be mediated either by stimulation of BAX and FAS antigen expression, or by repression of Bcl-2 expression. Its pro-apoptotic activity is activated via its interaction with PPP1R13B/ASPP1 or TP53BP2/ASPP2 (By similarity). However, this activity is inhibited when the interaction with PPP1R13B/ASPP1 or TP53BP2/ASPP2 is displaced by PPP1R13L/iASPP (By similarity). In cooperation with mitochondrial PPIF is involved in activating oxidative stress-induced necrosis; the function is largely independent of transcription. Prevents CDK7 kinase activity when associated to CAK complex in response to DNA damage, thus stopping cell cycle progression. Induces the transcription of long intergenic non-coding RNA p21 (lincRNA-p21) and lincRNA-Mkln1. LincRNA-p21 participates in TP53-dependent transcriptional repression leading to apoptosis and seems to have an effect on cell-cycle regulation. Regulates the circadian clock by repressing CLOCK-ARNTL/BMAL1-mediated transcriptional activation of PER2.", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361#function" }, { "database": "UniProtKB", "id": "P02340", "url": "https://www.uniprot.org/uniprot/P02340#function" }, { "database": "UniProtKB", "id": "P04637", "url": "https://www.uniprot.org/uniprot/P04637#function" }, { "database": "UniProtKB", "id": "A0A8I5ZQW3", "url": "https://www.uniprot.org/uniprot/A0A8I5ZQW3#function" }, { "database": "UniProtKB", "id": "RU003304", "url": "https://www.uniprot.org/uniprot/RU003304#function" }, { "database": "UniProtKB", "id": "A0A8I6AEF4", "url": "https://www.uniprot.org/uniprot/A0A8I6AEF4#function" }, { "database": "UniProtKB", "id": "A0A8I6AAP4", "url": "https://www.uniprot.org/uniprot/A0A8I6AAP4#function" }, { "database": "UniProtKB", "id": "A0A0G2JTP9", "url": "https://www.uniprot.org/uniprot/A0A0G2JTP9#function" }, { "database": "UniProtKB", "id": "A0A8L2R913", "url": "https://www.uniprot.org/uniprot/A0A8L2R913#function" }, { "database": "UniProtKB", "id": "A0A0G2KBB2", "url": "https://www.uniprot.org/uniprot/A0A0G2KBB2#function" } ] }, { "annotation": "Blocking P2RX7 Attenuates Ferroptosis in Endothelium and Reduces HG-induced Hemorrhagic Transformation After MCAO by Inhibiting ERK1/2 and P53 Signaling Pathways. Erratum:[Mol Neurobiol. 2022 Nov 23;:. PMID: 36422815]", "evidence": [ { "database": "RefSeq", "id": "NP_112251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112251" }, { "database": "PubMed", "id": "36282438", "url": "https://glygen.org/publication/PubMed/36282438" } ] }, { "annotation": "CXCL10 is a novel anti-angiogenic factor downstream of p53 in cardiomyocytes.", "evidence": [ { "database": "RefSeq", "id": "NP_112251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112251" }, { "database": "PubMed", "id": "35542987", "url": "https://glygen.org/publication/PubMed/35542987" } ] }, { "annotation": "Drp1/p53 interaction mediates p53 mitochondrial localization and dysfunction in septic cardiomyopathy.", "evidence": [ { "database": "RefSeq", "id": "NP_112251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112251" }, { "database": "PubMed", "id": "36841153", "url": "https://glygen.org/publication/PubMed/36841153" } ] }, { "annotation": "Inhibition of USP7 suppresses advanced glycation end-induced cell cycle arrest and senescence of human umbilical vein endothelial cells through ubiquitination of p53.", "evidence": [ { "database": "RefSeq", "id": "NP_112251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112251" }, { "database": "PubMed", "id": "35538032", "url": "https://glygen.org/publication/PubMed/35538032" } ] }, { "annotation": "Self-limiting bidirectional positive feedback between P53 and P21 is involved in cardiac hypertrophy.", "evidence": [ { "database": "RefSeq", "id": "NP_112251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112251" }, { "database": "PubMed", "id": "36044972", "url": "https://glygen.org/publication/PubMed/36044972" } ] }, { "annotation": "This gene encodes tumor protein p53, which responds to diverse cellular stresses to regulate target genes that induce cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. p53 protein is expressed at low level in normal cells and at a high level in a variety of transformed cell lines, where it is believed to contribute to transformation and malignancy. p53 is a DNA-binding protein containing transcription activation, DNA-binding, and oligomerization domains. It is postulated to bind to a p53-binding site and activate expression of downstream genes that inhibit growth and/or invasion, and thus function as a tumor suppressor. Alternatively spliced transcript variants have been found for this gene, but the biological validity of the variants has not been determined. p53 pseudogenes have been found on chromosomes 9 and 18. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_112251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112251" } ] } ], "disease": [ { "disease_id": "DOID:0001816", "recommended_name": { "id": "DOID:0001816", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0001816", "name": "angiosarcoma", "description": "A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels." }, "synonyms": [ { "id": "DOID:0001816", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0001816", "name": "hemangiosarcoma", "description": "" } ], "evidence": [ { "id": "0001816", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0001816" } ] }, { "disease_id": "DOID:0002116", "recommended_name": { "id": "DOID:0002116", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0002116", "name": "pterygium", "description": "A corneal disease that is characterized by a triangular tissue growth located_in cornea of the eye that is the result of collagen degeneration and fibrovascular proliferation." }, "synonyms": [ { "id": "DOID:0002116", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0002116", "name": "surfer's eye", "description": "" } ], "evidence": [ { "id": "0002116", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0002116" } ] }, { "disease_id": "DOID:0050745", "recommended_name": { "id": "DOID:0050745", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050745", "name": "diffuse large B-cell lymphoma", "description": "A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body." }, "synonyms": [ { "id": "DOID:0050745", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050745", "name": "DLBCL", "description": "" } ], "evidence": [ { "id": "0050745", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050745" } ] }, { "disease_id": "DOID:0050834", "recommended_name": { "id": "DOID:0050834", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050834", "name": "CHARGE syndrome", "description": "A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina." }, "synonyms": [ { "id": "DOID:0050834", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050834", "name": "CHARGE association", "description": "" }, { "id": "MONDO:0008965", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008965", "name": "CHARGE syndrome", "description": "CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's)." }, { "id": "MONDO:0008965", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008965", "name": "CHARGE association", "description": "" }, { "id": "MONDO:0008965", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008965", "name": "CHARGE syndrome", "description": "" }, { "id": "MONDO:0008965", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008965", "name": "Hall-Hittner syndrome", "description": "" }, { "id": "MONDO:0008965", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008965", "name": "coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association", "description": "" }, { "id": "MONDO:0008965", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008965", "name": "coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association", "description": "" }, { "id": "MONDO:0008965", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008965", "name": "coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome", "description": "" }, { "id": "MONDO:0008965", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008965", "name": "Charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and Ear anomalies", "description": "" }, { "id": "MONDO:0008965", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008965", "name": "coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies", "description": "" }, { "id": "MIM:214800", "resource": "MIM", "url": "https://www.omim.org/entry/214800", "name": "CHARGE syndrome", "description": "CHARGE syndrome" } ], "evidence": [ { "id": "0050834", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050834" } ] }, { "disease_id": "DOID:0050861", "recommended_name": { "id": "DOID:0050861", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin." }, "synonyms": [], "evidence": [ { "id": "0050861", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ] }, { "disease_id": "DOID:0050865", "recommended_name": { "id": "DOID:0050865", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050865", "name": "tongue squamous cell carcinoma", "description": "A head and neck squamous cell carcinoma that is located_in the tongue." }, "synonyms": [], "evidence": [ { "id": "0050865", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050865" } ] }, { "disease_id": "DOID:0050866", "recommended_name": { "id": "DOID:0050866", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells." }, "synonyms": [ { "id": "DOID:0050866", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050866", "name": "mouth squamous cell carcinoma", "description": "" } ], "evidence": [ { "id": "0050866", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ] }, { "disease_id": "DOID:0050902", "recommended_name": { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "medulloblastoma", "description": "An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor." }, "synonyms": [ { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "CNS PNET", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "CPNET", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "brain medulloblastoma", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "infratentorial primitive neuroectodermal tumor", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "localized primitive neuroectodermal tumor", "description": "" }, { "id": "DOID:0050902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050902", "name": "Medulloblastoma, histologically defined", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma", "description": "A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity." }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "brain medulloblastoma", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "cerebellar medulloblastoma", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "cerebellum embryonal neoplasm", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, malignant", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, somatic", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastomas", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "CNS PNET", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "CPNET", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "MDB", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "infratentorial primitive neuroectodermal tumor", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "infratentorial primitive neuroectodermal tumour", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "localised primitive neuroectodermal tumour", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "localized primitive neuroectodermal tumor", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma with extensive nodularity", "description": "" }, { "id": "MONDO:0007959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007959", "name": "medulloblastoma, desmoplastic", "description": "" }, { "id": "MIM:155255", "resource": "MIM", "url": "https://www.omim.org/entry/155255", "name": "Medulloblastoma", "description": "Medulloblastoma" } ], "evidence": [ { "id": "0050902", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050902" } ] }, { "disease_id": "DOID:0050908", "recommended_name": { "id": "DOID:0050908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050908", "name": "myelodysplastic syndrome", "description": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets." }, "synonyms": [ { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplastic syndrome", "description": "A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "MDS", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "MDS, unclassifiable", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "MDS-U", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "dysmyelopoietic syndrome", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "hematopoeitic - myelodysplastic syndrome (MDS)", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplasia", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplastic neoplasm", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplastic syndrome", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplastic syndrome, somatic", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplastic syndrome, unclassifiable", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplastic syndrome/neoplasm", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplastic syndromes", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "oligoblastic leukaemia", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "oligoblastic leukemia", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "preleukemia", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "smoldering leukemia", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "smouldering leukaemia", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplastic syndrome, susceptibility to", "description": "" }, { "id": "MIM:614286", "resource": "MIM", "url": "https://www.omim.org/entry/614286", "name": "Myelodysplastic syndrome", "description": "Myelodysplastic syndrome" } ], "evidence": [ { "id": "0050908", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "disease_id": "DOID:0060071", "recommended_name": { "id": "DOID:0060071", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060071", "name": "pre-malignant neoplasm", "description": "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer." }, "synonyms": [], "evidence": [ { "id": "0060071", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060071" } ] }, { "disease_id": "DOID:0060074", "recommended_name": { "id": "DOID:0060074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060074", "name": "ductal carcinoma in situ", "description": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells." }, "synonyms": [], "evidence": [ { "id": "0060074", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060074" } ] }, { "disease_id": "DOID:0080199", "recommended_name": { "id": "DOID:0080199", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080199", "name": "colorectal carcinoma", "description": "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa." }, "synonyms": [], "evidence": [ { "id": "0080199", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ] }, { "disease_id": "DOID:0080202", "recommended_name": { "id": "DOID:0080202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080202", "name": "adenoid cystic carcinoma", "description": "An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells." }, "synonyms": [], "evidence": [ { "id": "0080202", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "disease_id": "DOID:0080630", "recommended_name": { "id": "DOID:0080630", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080630", "name": "B-lymphoblastic leukemia/lymphoma", "description": "A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow." }, "synonyms": [ { "id": "DOID:0080630", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080630", "name": "precursor B lymphoblastic lymphoma/leukemia", "description": "" }, { "id": "DOID:0080630", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080630", "name": "B-ALL", "description": "" }, { "id": "DOID:0080630", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080630", "name": "B lymphoblastic leukemia/lymphoma", "description": "" } ], "evidence": [ { "id": "0080630", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080630" } ] }, { "disease_id": "DOID:0081267", "recommended_name": { "id": "DOID:0081267", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081267", "name": "graft-versus-host disease", "description": "An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32." }, "synonyms": [ { "id": "DOID:0081267", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081267", "name": "GvHD", "description": "" }, { "id": "DOID:0081267", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081267", "name": "graft versus host disease", "description": "" }, { "id": "MONDO:0100048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100048", "name": "graft-versus-host disease, susceptibility to", "description": "An inherited susceptibility or predisposition to developing graft vs. host disease." }, { "id": "MONDO:0100048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100048", "name": "GVHDS", "description": "" } ], "evidence": [ { "id": "0081267", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0081267" } ] }, { "disease_id": "DOID:0081292", "recommended_name": { "id": "DOID:0081292", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081292", "name": "traumatic brain injury", "description": "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head." }, "synonyms": [], "evidence": [ { "id": "0081292", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0081292" } ] }, { "disease_id": "DOID:0081312", "recommended_name": { "id": "DOID:0081312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081312", "name": "T-cell non-Hodgkin lymphoma", "description": "A non-Hodgkin lymphoma of T-cell lineage." }, "synonyms": [], "evidence": [ { "id": "0081312", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0081312" } ] }, { "disease_id": "DOID:0111503", "recommended_name": { "id": "DOID:0111503", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111503", "name": "Li-Fraumeni syndrome 1", "description": "A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1." }, "synonyms": [ { "id": "DOID:0111503", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111503", "name": "LFS1", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "A rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC)." }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familial cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familiar cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome caused by mutation in TP53", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "TP53 Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukaemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS1", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS3", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni-like syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of 51 and Fraumeni", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of Li and Fraumeni", "description": "" }, { "id": "MIM:151623", "resource": "MIM", "url": "https://www.omim.org/entry/151623", "name": "Li-Fraumeni syndrome", "description": "Li-Fraumeni syndrome" } ], "evidence": [ { "id": "0111503", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111503" } ] }, { "disease_id": "DOID:0112182", "recommended_name": { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112182", "name": "mismatch repair cancer syndrome", "description": "A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively." }, "synonyms": [ { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112182", "name": "BTP1 syndrome", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112182", "name": "BTPS1", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112182", "name": "CMMRDS", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112182", "name": "MMR deficiency", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112182", "name": "Turcot syndrome", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112182", "name": "CMMR-D syndrome", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112182", "name": "brain tumor-polyposis syndrome 1", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112182", "name": "childhood cancer syndrome", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112182", "name": "constitutional mismatch repair deficiency syndrome", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "mismatch repair cancer syndrome 1", "description": "A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1." }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "BTP1 syndrome", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "CMMR-D", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "CMMR-D syndrome", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "MMRCS1", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "brain tumor-polyposis syndrome 1", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "constitutional MIS-match repair deficiency syndrome", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "constitutional mismatch repair deficiency syndrome", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "mismatch repair cancer syndrome 1", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "CNS tumors with familial polyposis of the colon", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "CNS tumours with familial polyposis of the colon", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "MMR deficiency", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "MMRCS", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "Turcot syndrome", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "brain tumor-polyposis syndrome", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "childhood cancer syndrome", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "glioma-polyposis syndrome", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "malignant tumors of the central nervous system associated with familial polyposis of the colon", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "malignant tumours of the central nervous system associated with familial polyposis of the colon", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "mismatch repair cancer syndrome", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "mismatch repair deficiency", "description": "" }, { "id": "MIM:276300", "resource": "MIM", "url": "https://www.omim.org/entry/276300", "name": "Mismatch repair cancer syndrome 1", "description": "Mismatch repair cancer syndrome 1" } ], "evidence": [ { "id": "0112182", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0112182" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" 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"description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ], "evidence": [ { "id": "10283", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1035", "recommended_name": { "id": "DOID:1035", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1035", "name": "aggressive NK-cell leukemia", "description": "A leukemia that is characterized by the systemic proliferation of NK cells closely associated with Epstein-Barr virus and that is located_in the peripheral blood, bone marrow, liver, and spleen." }, "synonyms": [ { "id": "DOID:1035", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1035", "name": "aggressive NK-cell leukaemia", "description": "" }, { "id": "DOID:1035", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1035", "name": "large granular Lymphocyte Leukemia, NK-cell type", "description": "" }, { "id": "DOID:1035", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1035", "name": "natural killer cell leukaemia", "description": "" }, { "id": "DOID:1035", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1035", "name": "natural killer cell leukemia", "description": "" } ], "evidence": [ { "id": "1035", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1035" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "evidence": [ { "id": "10534", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1070", "recommended_name": { "id": "DOID:1070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure." }, "synonyms": [ { "id": "DOID:1070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1070", "name": "chronic simple glaucoma", "description": "" }, { "id": "MONDO:0007665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007665", "name": "obsolete glaucoma 1, open angle, E", "description": "OBSOLETE. A form of glaucoma in which there is no visible abnormality in the trabecular meshwork." }, { "id": "MONDO:0007665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007665", "name": "chronic simple glaucoma", "description": "" }, { "id": "MONDO:0007665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007665", "name": "glaucoma 1, open angle, E", "description": "" }, { "id": "MONDO:0007665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007665", "name": "glaucoma, primary open angle, adult-onset", "description": "" }, { "id": "MIM:137760", "resource": "MIM", "url": "https://www.omim.org/entry/137760", "name": "Glaucoma, primary open angle", "description": "Glaucoma, primary open angle" } ], "evidence": [ { "id": "1070", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ] }, { "disease_id": "DOID:10811", "recommended_name": { "id": "DOID:10811", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10811", "name": "nasal cavity cancer", "description": "A respiratory system cancer that is located_in the nasal cavity." }, "synonyms": [ { "id": "DOID:10811", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10811", "name": "malignant neoplasm of nasal cavities", "description": "" }, { "id": "DOID:10811", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10811", "name": "malignant tumor of the nasal cavity", "description": "" } ], "evidence": [ { "id": "10811", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10811" } ] }, { "disease_id": "DOID:10964", "recommended_name": { "id": "DOID:10964", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10964", "name": "cholesteatoma of middle ear", "description": "" }, "synonyms": [ { "id": "DOID:10964", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10964", "name": "Cholesteatoma of middle ear and mastoid", "description": "" }, { "id": "DOID:10964", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10964", "name": "Cholesteatoma of middle ear and/or mastoid", "description": "" }, { "id": "DOID:10964", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10964", "name": "Cholesteatoma of the middle ear", "description": "" }, { "id": "DOID:10964", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10964", "name": "Epidermosis of ear", "description": "" }, { "id": "DOID:10964", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10964", "name": "Epidermosis of middle ear", "description": "" }, { "id": "DOID:10964", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10964", "name": "cholesteatoma", "description": "" }, { "id": "DOID:10964", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10964", "name": "middle ear cholesteatoma", "description": "" } ], "evidence": [ { "id": "10964", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10964" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "evidence": [ { "id": "11054", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:1115", "recommended_name": { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "sarcoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm." }, "synonyms": [ { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "connective and soft tissue neoplasm", "description": "" }, { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "tumor of soft tissue and skeleton", "description": "" } ], "evidence": [ { "id": "1115", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1115" } ] }, { "disease_id": "DOID:11650", "recommended_name": { "id": "DOID:11650", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems." }, "synonyms": [ { "id": "DOID:11650", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11650", "name": "Perinatal bronchopulmonary dysplasia", "description": "" }, { "id": "DOID:11650", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11650", "name": "neonatal chronic respiratory disease", "description": "" }, { "id": "DOID:11650", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11650", "name": "Bronchopulmonary dysplasia of newborn", "description": "" }, { "id": "DOID:11650", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11650", "name": "Chronic lung disease of prematurity", "description": "" }, { "id": "DOID:11650", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11650", "name": "Neonatal chronic lung disease", "description": "" }, { "id": "DOID:11650", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11650", "name": "Respiratory insufficiency", "description": "" } ], "evidence": [ { "id": "11650", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ] }, { "disease_id": "DOID:12361", "recommended_name": { "id": "DOID:12361", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland." }, "synonyms": [ { "id": "DOID:12361", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12361", "name": "Grave's disease", "description": "" }, { "id": "DOID:12361", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12361", "name": "Graves disease", "description": "" }, { "id": "DOID:12361", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12361", "name": "exophthalmic goiter", "description": "" } ], "evidence": [ { "id": "12361", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ] }, { "disease_id": "DOID:1240", "recommended_name": { "id": "DOID:1240", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells." }, "synonyms": [], "evidence": [ { "id": "1240", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ] }, { "disease_id": "DOID:12930", "recommended_name": { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently." }, "synonyms": [ { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "primary dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, congestive", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, familial idiopathic", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, idiopathic dilated", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "evidence": [ { "id": "12930", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ] }, { "disease_id": "DOID:1350", "recommended_name": { "id": "DOID:1350", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1350", "name": "paranasal sinus benign neoplasm", "description": "" }, "synonyms": [ { "id": "DOID:1350", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1350", "name": "neoplasm of accessory sinus", "description": "" }, { "id": "DOID:1350", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1350", "name": "tumor of Accessory sinus", "description": "" } ], "evidence": [ { "id": "1350", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1350" } ] }, { "disease_id": "DOID:13544", "recommended_name": { "id": "DOID:13544", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13544", "name": "low tension glaucoma", "description": "An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision." }, "synonyms": [ { "id": "DOID:13544", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13544", "name": "Normal tension glaucoma", "description": "" } ], "evidence": [ { "id": "13544", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13544" } ] }, { "disease_id": "DOID:1380", "recommended_name": { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus." }, "synonyms": [ { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "endometrial Ca", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "endometrial neoplasm", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "malignant endometrial neoplasm", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "malignant neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "primary malignant neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "tumor of Endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer", "description": "Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity)." }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "neoplasm of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "tumor of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "tumour of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "cancer of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial Ca", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer, familial, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial carcinoma, somatic", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrium cancer", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant endometrial neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant endometrium neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant neoplasm of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "primary malignant neoplasm of endometrium", "description": "" }, { "id": "MIM:608089", "resource": "MIM", "url": "https://www.omim.org/entry/608089", "name": "Endometrial cancer", "description": "Endometrial cancer" } ], "evidence": [ { "id": "1380", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ] }, { "disease_id": "DOID:14566", "recommended_name": { "id": "DOID:14566", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14566", "name": "disease of cellular proliferation", "description": "A disease that is characterized by abnormally rapid cell division." }, "synonyms": [ { "id": "DOID:14566", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14566", "name": "cell process disease", "description": "" }, { "id": "DOID:14566", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14566", "name": "neoplasm", "description": "" } ], "evidence": [ { "id": "14566", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14566" } ] }, { "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 susceptibility, autosomal dominant, somatic mutation", "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, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "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": "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, 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": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "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": "familial breast carcinoma", "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": "hereditary breast cancer", "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:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "evidence": [ { "id": "1612", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:162", "recommended_name": { "id": "DOID:162", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis." }, "synonyms": [ { "id": "DOID:162", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:162", "name": "malignant neoplasm", "description": "" }, { "id": "DOID:162", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:162", "name": "malignant tumor", "description": "" }, { "id": "DOID:162", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:162", "name": "primary cancer", "description": "" } ], "evidence": [ { "id": "162", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:162" } ] }, { "disease_id": "DOID:1749", "recommended_name": { "id": "DOID:1749", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells." }, "synonyms": [ { "id": "DOID:1749", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1749", "name": "epidermoid carcinoma", "description": "" }, { "id": "DOID:1749", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1749", "name": "malignant squamous cell tumor", "description": "" }, { "id": "DOID:1749", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1749", "name": "squamous carcinoma", "description": "" }, { "id": "DOID:1749", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1749", "name": "squamous cell Epithelioma", "description": "" }, { "id": "DOID:1749", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1749", "name": "squamous cell cancer", "description": "" } ], "evidence": [ { "id": "1749", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "evidence": [ { "id": "1793", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:1909", "recommended_name": { "id": "DOID:1909", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye." }, "synonyms": [ { "id": "DOID:1909", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1909", "name": "Naevocarcinoma", "description": "" }, { "id": "DOID:1909", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1909", "name": "malignant melanoma", "description": "" } ], "evidence": [ { "id": "1909", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ] }, { "disease_id": "DOID:2513", "recommended_name": { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "basal cell carcinoma", "description": "A skin carcinoma affecting basal cells." }, "synonyms": [ { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "Basal cell cancer", "description": "" }, { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "Basal cell carcinoma of skin", "description": "" }, { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "Basal cell neoplasm", "description": "" }, { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "Basal cell tumor", "description": "" }, { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "Epithelioma basal cell", "description": "" }, { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "Rodent ulcer", "description": "" }, { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "malignant Basal cell neoplasm", "description": "" }, { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "malignant basal cell tumor", "description": "" } ], "evidence": [ { "id": "2513", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2513" } ] }, { "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": "" } ], "evidence": [ { "id": "2531", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:2626", "recommended_name": { "id": "DOID:2626", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2626", "name": "choroid plexus papilloma", "description": "" }, "synonyms": [ { "id": "DOID:2626", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2626", "name": "childhood choroid plexus papilloma", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "choroid plexus papilloma", "description": "Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor, accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure." }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "choroid plexus papilloma", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "choroid plexus papilloma, no ICD-O subtype", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "papilloma of the choroid plexus", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "childhood choroid plexus papilloma", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "childhood papilloma of choroid plexus", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "choroid plexus papilloma NOS (morphologic abnormality)", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "paediatric papilloma of choroid plexus", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "pediatric papilloma of choroid plexus", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "CPP", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "choroid plexus carcinoma", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "papilloma of choroid plexus", "description": "" }, { "id": "MONDO:0009837", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009837", "name": "papilloma, choroid plexus, benign", "description": "" }, { "id": "MIM:260500", "resource": "MIM", "url": "https://www.omim.org/entry/260500", "name": "Papilloma of choroid plexus", "description": "Papilloma of choroid plexus" } ], "evidence": [ { "id": "2626", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2626" } ] }, { "disease_id": "DOID:2671", "recommended_name": { "id": "DOID:2671", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells." }, "synonyms": [ { "id": "DOID:2671", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2671", "name": "transitional carcinoma", "description": "" }, { "id": "DOID:2671", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2671", "name": "transitional cell tumor", "description": "" }, { "id": "DOID:2671", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2671", "name": "urothelial cell carcinoma", "description": "" } ], "evidence": [ { "id": "2671", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ] }, { "disease_id": "DOID:2729", "recommended_name": { "id": "DOID:2729", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2729", "name": "dyskeratosis congenita", "description": "A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer." }, "synonyms": [ { "id": "DOID:2729", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2729", "name": "DKCD", "description": "" }, { "id": "MONDO:0007485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007485", "name": "dyskeratosis congenita, autosomal dominant 1", "description": "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2." }, { "id": "MONDO:0007485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007485", "name": "DKCA1", "description": "" }, { "id": "MONDO:0007485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007485", "name": "dyskeratosis congenita, Scoggins type", "description": "" }, { "id": "MONDO:0007485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007485", "name": "dyskeratosis congenita, autosomal dominant 1", "description": "" }, { "id": "MONDO:0007485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007485", "name": "dyskeratosis congenita, autosomal dominant type 1", "description": "" }, { "id": "MONDO:0007485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007485", "name": "DKCA", "description": "" }, { "id": "MONDO:0007485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007485", "name": "autosomal dominant dyskeratosis congenita", "description": "" }, { "id": "MONDO:0007485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007485", "name": "autosomal dominant dyskeratosis congenita 1", "description": "" }, { "id": "MONDO:0007485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007485", "name": "dyskeratosis congenita Scoggins type", "description": "" }, { "id": "MONDO:0007485", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007485", "name": "dyskeratosis congenita autosomal dominant", "description": "" } ], "evidence": [ { "id": "2729", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2729" } ] }, { "disease_id": "DOID:2870", "recommended_name": { "id": "DOID:2870", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2870", "name": "endometrial adenocarcinoma", "description": "An endometrial carcinoma that derives_from epithelial cells of glandular origin." }, "synonyms": [ { "id": "DOID:2870", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2870", "name": "endometrial endometrioid adenocarcinoma with squamous differentiation", "description": "" }, { "id": "DOID:2870", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2870", "name": "adenocarcinoma of endometrium", "description": "" }, { "id": "DOID:2870", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2870", "name": "adenocarcinoma of the Endometrium", "description": "" }, { "id": "DOID:2870", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2870", "name": "adenocarcinoma of uterus", "description": "" }, { "id": "DOID:2870", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2870", "name": "endometrial adenoacanthoma", "description": "" }, { "id": "DOID:2870", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2870", "name": "endometrial endometrioid adenocarcinoma", "description": "" }, { "id": "DOID:2870", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2870", "name": "endometrioid adenoma or carcinoma", "description": "" }, { "id": "DOID:2870", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2870", "name": "endometrioid adenomas and carcinomas", "description": "" }, { "id": "DOID:2870", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2870", "name": "endometrioid carcinoma of Endometrium", "description": "" } ], "evidence": [ { "id": "2870", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2870" } ] }, { "disease_id": "DOID:2871", "recommended_name": { "id": "DOID:2871", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2871", "name": "endometrial carcinoma", "description": "A endometrial cancer that is located_in the tissue lining the uterus." }, "synonyms": [ { "id": "DOID:2871", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2871", "name": "endometrioid carcinoma of female Reproductive system", "description": "" }, { "id": "DOID:2871", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2871", "name": "carcinoma of the Endometrium", "description": "" }, { "id": "DOID:2871", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2871", "name": "endometrioid carcinoma", "description": "" } ], "evidence": [ { "id": "2871", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ] }, { "disease_id": "DOID:2998", "recommended_name": { "id": "DOID:2998", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2998", "name": "testicular cancer", "description": "A male reproductive system cancer that is located_in the testicles." }, "synonyms": [ { "id": "DOID:2998", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2998", "name": "childhood neoplasm of the testis", "description": "" }, { "id": "DOID:2998", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2998", "name": "neoplasm of testis", "description": "" }, { "id": "DOID:2998", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2998", "name": "pediatric testicular neoplasm", "description": "" }, { "id": "DOID:2998", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2998", "name": "testicular tumor", "description": "" }, { "id": "DOID:2998", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2998", "name": "testis cancer", "description": "" }, { "id": "DOID:2998", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2998", "name": "testis neoplasm", "description": "" } ], "evidence": [ { "id": "2998", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2998" } ] }, { "disease_id": "DOID:3012", "recommended_name": { "id": "DOID:3012", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3012", "name": "Li-Fraumeni syndrome", "description": "A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata." }, "synonyms": [ { "id": "DOID:3012", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3012", "name": "SBLA syndrome", "description": "" }, { "id": "DOID:3012", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3012", "name": "sarcoma, breast, leukaemia and adrenal gland syndrome", "description": "" }, { "id": "DOID:3012", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3012", "name": "Li-Fraumeni Familiar cancer Susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "A rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC)." }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familial cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familiar cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome caused by mutation in TP53", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "TP53 Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukaemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS1", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS3", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni-like syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of 51 and Fraumeni", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of Li and Fraumeni", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "A rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC)." }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familial cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni familiar cancer susceptibility syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni syndrome caused by mutation in TP53", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "TP53 Li-Fraumeni syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukaemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma, breast, leukemia and adrenal gland syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS1", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "LFS3", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "Li-Fraumeni-like syndrome", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of 51 and Fraumeni", "description": "" }, { "id": "MONDO:0018875", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018875", "name": "sarcoma family syndrome of Li and Fraumeni", "description": "" }, { "id": "MIM:151623", "resource": "MIM", "url": "https://www.omim.org/entry/151623", "name": "Li-Fraumeni syndrome", "description": "Li-Fraumeni syndrome" } ], "evidence": [ { "id": "3012", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3012" } ] }, { "disease_id": "DOID:3068", "recommended_name": { "id": "DOID:3068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes." }, "synonyms": [ { "id": "DOID:3068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3068", "name": "glioblastoma multiforme", "description": "" }, { "id": "DOID:3068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3068", "name": "GBM", "description": "" }, { "id": "DOID:3068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3068", "name": "adult glioblastoma multiforme", "description": "" }, { "id": "DOID:3068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3068", "name": "grade IV adult Astrocytic tumor", "description": "" }, { "id": "DOID:3068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3068", "name": "primary glioblastoma multiforme", "description": "" }, { "id": "DOID:3068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3068", "name": "spongioblastoma multiforme", "description": "" } ], "evidence": [ { "id": "3068", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ] }, { "disease_id": "DOID:3070", "recommended_name": { "id": "DOID:3070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine." }, "synonyms": [ { "id": "DOID:3070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3070", "name": "malignant glioma", "description": "" }, { "id": "DOID:3070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3070", "name": "Neuroglial tumor", "description": "" }, { "id": "DOID:3070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3070", "name": "glial cell tumor", "description": "" }, { "id": "DOID:3070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3070", "name": "glioma, malignant", "description": "" }, { "id": "DOID:3070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3070", "name": "malignant Neuroglial tumor", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "glioma susceptibility 1", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "GLM1", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "glioblastoma, somatic", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "glioma susceptibility 1", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "glioma susceptibility 1, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "glioma, susceptibility to, somatic", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "astrocytoma", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "ependymoma", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "glioblastoma multiforme", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "glioma of brain, familial", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "oligodendroglioma", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "subependymoma", "description": "" }, { "id": "MIM:137800", "resource": "MIM", "url": "https://www.omim.org/entry/137800", "name": "Glioma 1", "description": "Glioma 1" } ], "evidence": [ { "id": "3070", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ] }, { "disease_id": "DOID:3114", "recommended_name": { "id": "DOID:3114", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3114", "name": "serous cystadenocarcinoma", "description": "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions." }, "synonyms": [ { "id": "DOID:3114", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3114", "name": "serous adenocarcinoma", "description": "" }, { "id": "DOID:3114", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3114", "name": "serous carcinoma", "description": "" } ], "evidence": [ { "id": "3114", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3114" } ] }, { "disease_id": "DOID:326", "recommended_name": { "id": "DOID:326", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:326", "name": "ischemia", "description": "A vascular disease that is characterized by a restriction in blood supply to tissues." }, "synonyms": [], "evidence": [ { "id": "326", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:326" } ] }, { "disease_id": "DOID:3347", "recommended_name": { "id": "DOID:3347", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3347", "name": "osteosarcoma", "description": "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin." }, "synonyms": [ { "id": "DOID:3347", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3347", "name": "Osteogenic sarcoma", "description": "" }, { "id": "DOID:3347", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3347", "name": "Skeletal sarcoma", "description": "" }, { "id": "DOID:3347", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3347", "name": "bone tissue neoplasm", "description": "" }, { "id": "DOID:3347", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3347", "name": "osteoid sarcoma", "description": "" }, { "id": "MONDO:0002629", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002629", "name": "bone osteosarcoma", "description": "A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs." }, { "id": "MONDO:0002629", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002629", "name": "bone osteosarcoma", "description": "" }, { "id": "MONDO:0002629", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002629", "name": "osteosarcoma of bone", "description": "" }, { "id": "MONDO:0002629", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002629", "name": "osteosarcoma, somatic", "description": "" }, { "id": "MONDO:0002629", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002629", "name": "osteosarcoma, somatic mutation", "description": "" }, { "id": "MONDO:0002629", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002629", "name": "primary osteosarcoma of bone", "description": "" }, { "id": "MIM:259500", "resource": "MIM", "url": "https://www.omim.org/entry/259500", "name": "Osteogenic sarcoma", "description": "Osteogenic sarcoma" } ], "evidence": [ { "id": "3347", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3347" } ] }, { "disease_id": "DOID:3393", "recommended_name": { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles." }, "synonyms": [ { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "CHD", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "Coronary disease", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary arteriosclerosis", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary heart disease", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, type 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "Chds4", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "Chds2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform mole, recurrent, 2", "description": "Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene." }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "KHDC3L complete hydatidiform mole", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "complete hydatidiform mole caused by mutation in KHDC3L", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform Mole, recurrent, type 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform mole, recurrent, 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "HYDM2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform MOLE, recurrent, 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform Mole, complete", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, 1", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene." }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "CX3CR1 coronary artery disease", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary artery disease caused by mutation in CX3CR1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary artery disease, resistance to", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, type 1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "Chds1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, 1", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene." }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "MEF2A coronary artery disease", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease caused by mutation in MEF2A", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, 1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, type 1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "ADCAD1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease with myocardial infarction", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant 2", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene." }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "LRP6 coronary artery disease", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease caused by mutation in LRP6", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant type 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant, 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "ADCAD2", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "coronary heart disease, susceptibility to, 9", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "CHDS9", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "coronary heart disease, susceptibility to, 9", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, type 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "Chds3", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "coronary heart disease, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "CHDS8", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "coronary heart disease, susceptibility to, 8", "description": "" }, { "id": "MIM:614293", "resource": "MIM", "url": "https://www.omim.org/entry/614293", "name": "Hydatidiform mole, recurrent, 2", "description": "Hydatidiform mole, recurrent, 2" }, { "id": "MIM:608320", "resource": "MIM", "url": "https://www.omim.org/entry/608320", "name": "Coronary artery disease, autosomal dominant, 1", "description": "Coronary artery disease, autosomal dominant, 1" }, { "id": "MIM:610947", "resource": "MIM", "url": "https://www.omim.org/entry/610947", "name": "Coronary artery disease, autosomal dominant, 2", "description": "Coronary artery disease, autosomal dominant, 2" } ], "evidence": [ { "id": "3393", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ] }, { "disease_id": "DOID:3702", "recommended_name": { "id": "DOID:3702", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3702", "name": "cervical adenocarcinoma", "description": "A cervix carcinoma that derives_from epithelial cells of glandular origin." }, "synonyms": [ { "id": "DOID:3702", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3702", "name": "adenocarcinoma cervix uteri", "description": "" }, { "id": "DOID:3702", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3702", "name": "adenocarcinoma of cervix", "description": "" }, { "id": "DOID:3702", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3702", "name": "adenocarcinoma of the uterine Cervix", "description": "" } ], "evidence": [ { "id": "3702", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3702" } ] }, { "disease_id": "DOID:3717", "recommended_name": { "id": "DOID:3717", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3717", "name": "gastric adenocarcinoma", "description": "A stomach carcinoma that derives_from epithelial cells of glandular origin." }, "synonyms": [ { "id": "DOID:3717", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3717", "name": "adenocarcinoma of stomach", "description": "" }, { "id": "DOID:3717", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3717", "name": "stomach adenocarcinoma", "description": "" } ], "evidence": [ { "id": "3717", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3717" } ] }, { "disease_id": "DOID:3744", "recommended_name": { "id": "DOID:3744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3744", "name": "cervical squamous cell carcinoma", "description": "A cervix carcinoma that has_material_basis_in squamous cells of the cervix." }, "synonyms": [ { "id": "DOID:3744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3744", "name": "squamous cell carcinoma of cervix", "description": "" }, { "id": "DOID:3744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3744", "name": "squamous cell carcinoma of the Cervix Uteri", "description": "" } ], "evidence": [ { "id": "3744", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3744" } ] }, { "disease_id": "DOID:3748", "recommended_name": { "id": "DOID:3748", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus." }, "synonyms": [ { "id": "DOID:3748", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3748", "name": "SCC of esophagus", "description": "" }, { "id": "DOID:3748", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3748", "name": "SCC of oesophagus", "description": "" }, { "id": "DOID:3748", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3748", "name": "oesophagus squamous cell carcinoma", "description": "" } ], "evidence": [ { "id": "3748", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ] }, { "disease_id": "DOID:3908", "recommended_name": { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma." }, "synonyms": [ { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "NSCLC", "description": "" }, { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "Non-small cell lung cancer", "description": "" }, { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "non-small cell lung carcinoma", "description": "" } ], "evidence": [ { "id": "3908", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ] }, { "disease_id": "DOID:4247", "recommended_name": { "id": "DOID:4247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4247", "name": "coronary restenosis", "description": "" }, "synonyms": [], "evidence": [ { "id": "4247", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4247" } ] }, { "disease_id": "DOID:4450", "recommended_name": { "id": "DOID:4450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney." }, "synonyms": [ { "id": "DOID:4450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4450", "name": "RCC", "description": "" }, { "id": "DOID:4450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4450", "name": "adenocarcinoma of kidney", "description": "" }, { "id": "DOID:4450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4450", "name": "hypernephroma", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "renal cell carcinoma, Xp11-associated", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "renal cell carcinoma, Xp11-associated", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "renal cell carcinoma, papillary, 1", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "RCCX1", "description": "" } ], "evidence": [ { "id": "4450", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ] }, { "disease_id": "DOID:4467", "recommended_name": { "id": "DOID:4467", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4467", "name": "clear cell renal cell carcinoma", "description": "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope." }, "synonyms": [ { "id": "DOID:4467", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4467", "name": "Clear cell carcinoma of kidney", "description": "" }, { "id": "DOID:4467", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4467", "name": "clear cell kidney carcinoma", "description": "" }, { "id": "DOID:4467", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4467", "name": "conventional (Clear cell) renal cell carcinoma", "description": "" }, { "id": "DOID:4467", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4467", "name": "conventional renal cell carcinoma", "description": "" }, { "id": "DOID:4467", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4467", "name": "renal clear cell carcinoma", "description": "" } ], "evidence": [ { "id": "4467", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4467" } ] }, { "disease_id": "DOID:4926", "recommended_name": { "id": "DOID:4926", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4926", "name": "bronchiolo-alveolar adenocarcinoma", "description": "A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension." }, "synonyms": [ { "id": "DOID:4926", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4926", "name": "Bronchioalveolar lung carcinoma", "description": "" }, { "id": "DOID:4926", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4926", "name": "Bronchioloalveolar carcinoma", "description": "" }, { "id": "DOID:4926", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4926", "name": "Minimally Invasive Lung Adenocarcinoma", "description": "" } ], "evidence": [ { "id": "4926", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4926" } ] }, { "disease_id": "DOID:4971", "recommended_name": { "id": "DOID:4971", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4971", "name": "myelofibrosis", "description": "A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue." }, "synonyms": [ { "id": "DOID:4971", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4971", "name": "Agnogenic myeloid metaplasia", "description": "" }, { "id": "DOID:4971", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4971", "name": "Aleukemic myelosis", "description": "" }, { "id": "DOID:4971", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4971", "name": "Megakaryocytic myelosclerosis", "description": "" }, { "id": "DOID:4971", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4971", "name": "bone Marrow Fibrosis", "description": "" }, { "id": "DOID:4971", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4971", "name": "myelosclerosis", "description": "" }, { "id": "DOID:4971", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4971", "name": "primary myelofibrosis", "description": "" }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "primary myelofibrosis", "description": "Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension." }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "AMM", "description": "" }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "Agnogenic myeloid metaplasia", "description": "" }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "CIMF", "description": "" }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "aleukemic myelosis", "description": "" }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "bone marrow fibrosis", "description": "" }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "chronic idiopathic myelofibrosis", "description": "" }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "idiopathic bone marrow fibrosis", "description": "" }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "idiopathic myelofibrosis", "description": "" }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "megakaryocytic myelosclerosis", "description": "" }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "myelofibrosis with myeloid metaplasia, somatic", "description": "" }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "myelofibrosis, somatic", "description": "" }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "myelosclerosis", "description": "" }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "myelosclerosis with myeloid metaplasia", "description": "" }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "osteomyelofibrosis", "description": "" }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "primary myelofibrosis", "description": "" }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "myelofibrosis with myeloid metaplasia", "description": "" }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "myelofibrosis", "description": "" }, { "id": "MONDO:0009692", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009692", "name": "myeloid metaplasia", "description": "" }, { "id": "MIM:254450", "resource": "MIM", "url": "https://www.omim.org/entry/254450", "name": "Myelofibrosis with myeloid metaplasia", "description": "Myelofibrosis with myeloid metaplasia" } ], "evidence": [ { "id": "4971", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4971" } ] }, { "disease_id": "DOID:5744", "recommended_name": { "id": "DOID:5744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5744", "name": "ovary serous adenocarcinoma", "description": "An ovary adenocarcinoma that derives_from the lining of a cavity that produces a serum-like fluid (a serous cavity)." }, "synonyms": [ { "id": "DOID:5744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5744", "name": "malignant ovarian serous tumor", "description": "" }, { "id": "DOID:5744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5744", "name": "serous carcinoma of Ovary", "description": "" } ], "evidence": [ { "id": "5744", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5744" } ] }, { "disease_id": "DOID:5773", "recommended_name": { "id": "DOID:5773", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5773", "name": "oral submucous fibrosis", "description": "A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues." }, "synonyms": [ { "id": "DOID:5773", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5773", "name": "Oral cavity Submucous Fibrosis", "description": "" }, { "id": "DOID:5773", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5773", "name": "Oral submucosal fibrosis", "description": "" }, { "id": "DOID:5773", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5773", "name": "Oral submucosal fibrosis, including of tongue", "description": "" } ], "evidence": [ { "id": "5773", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5773" } ] }, { "disease_id": "DOID:5940", "recommended_name": { "id": "DOID:5940", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5940", "name": "malignant peripheral nerve sheath tumor", "description": "" }, "synonyms": [ { "id": "DOID:5940", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5940", "name": "malignant neoplasm of the peripheral nerve Sheath", "description": "" } ], "evidence": [ { "id": "5940", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5940" } ] }, { "disease_id": "DOID:684", "recommended_name": { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver." }, "synonyms": [ { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "Hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MIM:114550", "resource": "MIM", "url": "https://www.omim.org/entry/114550", "name": "Hepatocellular carcinoma", "description": "Hepatocellular carcinoma" } ], "evidence": [ { "id": "684", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:684" } ] }, { "disease_id": "DOID:705", "recommended_name": { "id": "DOID:705", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:705", "name": "Leber hereditary optic neuropathy", "description": "" }, "synonyms": [ { "id": "DOID:705", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:705", "name": "Leber's hereditary optic neuropathy", "description": "" }, { "id": "DOID:705", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:705", "name": "Leber's optic atrophy", "description": "" }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "Leber hereditary optic neuropathy", "description": "Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "LHON", "description": "" }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "Leber Hereditary optic atrophy", "description": "" }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "Leber hereditary optic neuropathy", "description": "" }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "Leber optic atrophy", "description": "" }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "Leber's hereditary optic neuropathy", "description": "" }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "Leber's optic atrophy", "description": "" }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "Lebers disease", "description": "" }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "optic atrophy, Leber type", "description": "" }, { "id": "MIM:535000", "resource": "MIM", "url": "https://www.omim.org/entry/535000", "name": "Leber hereditary optic neuropathy", "description": "Leber hereditary optic neuropathy" } ], "evidence": [ { "id": "705", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:705" } ] }, { "disease_id": "DOID:7575", "recommended_name": { "id": "DOID:7575", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7575", "name": "pancreatic intraductal papillary-mucinous neoplasm", "description": "A pancreatic cancer that is characterized as a slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts." }, "synonyms": [], "evidence": [ { "id": "7575", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:7575" } ] }, { "disease_id": "DOID:7614", "recommended_name": { "id": "DOID:7614", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7614", "name": "meninges sarcoma", "description": "" }, "synonyms": [ { "id": "DOID:7614", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7614", "name": "Meningeal sarcoma", "description": "" }, { "id": "DOID:7614", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7614", "name": "sarcoma of meninges", "description": "" } ], "evidence": [ { "id": "7614", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:7614" } ] }, { "disease_id": "DOID:8725", "recommended_name": { "id": "DOID:8725", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain." }, "synonyms": [ { "id": "DOID:8725", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8725", "name": "Multi Infarct Dementia", "description": "" }, { "id": "DOID:8725", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8725", "name": "multifocal dementia", "description": "" } ], "evidence": [ { "id": "8725", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ] }, { "disease_id": "DOID:9119", "recommended_name": { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells." }, "synonyms": [ { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "AML - acute Myeloid Leukemia", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "Leukemia, Myelocytic, acute", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "acute myeloblastic leukaemia", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "acute myeloblastic leukemia", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "acute myelogenous leukaemia", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "acute myelogenous leukemia", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "acute myeloid leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloid leukemia", "description": "Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections." }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "AML", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "AML - acute myeloid leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "AML - acute myeloid leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "ANLL", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute Nonlymphocytic leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute Nonlymphocytic leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute granulocytic leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute granulocytic leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloblastic leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloblastic leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myelocytic leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myelocytic leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myelogenous leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myelogenous leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myelogenous leukemias", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloid leukaemia (AML)", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloid leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloid leukemia (AML)", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloid leukemia, somatic", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute nonlymphocytic leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute nonlymphocytic leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "hematopoeitic - acute Myleogenous leukaemia (AML)", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "hematopoeitic - acute Myleogenous leukemia (AML)", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myeloid, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myeloid, reduced survival in, somatic", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myeloid, somatic", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myeloid, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, myelocytic, acute", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "myeloid leukemia, acute", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "myeloid leukemia, acute, M4/M4Eo subtype, somatic", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute non lymphoblastic leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute non lymphoblastic leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myelogenous", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myeloid", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myeloid, susceptibility to", "description": "" }, { "id": "MIM:601626", "resource": "MIM", "url": "https://www.omim.org/entry/601626", "name": "Leukemia, acute myelogenous", "description": "Leukemia, acute myelogenous" } ], "evidence": [ { "id": "9119", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ] }, { "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: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": "cancer of colorectum", "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": "cancer of 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": "colon cancer, advanced, somatic", "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", "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": "colorectal cancer, autosomal dominant, somatic mutation", "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": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "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 colorectal neoplasm", "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 colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "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 large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "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 large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "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 neoplasm of 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": "malignant neoplasm of the large bowel", "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": "malignant tumor of large bowel", "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 tumor of the large bowel", "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 tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "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": "colon cancer", "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": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "evidence": [ { "id": "9256", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:9261", "recommended_name": { "id": "DOID:9261", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract." }, "synonyms": [ { "id": "DOID:9261", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9261", "name": "Nasopharyngeal carcinoma", "description": "" }, { "id": "DOID:9261", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9261", "name": "malignant Nasopharyngeal tumor", "description": "" }, { "id": "DOID:9261", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9261", "name": "malignant neoplasm of nasopharynx", "description": "" }, { "id": "DOID:9261", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9261", "name": "nasopharynx cancer", "description": "" }, { "id": "MONDO:0008067", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008067", "name": "nasopharyngeal carcinoma, susceptibility to, 2", "description": "" }, { "id": "MONDO:0008067", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008067", "name": "nasopharyngeal carcinoma, susceptibility to, 2", "description": "" }, { "id": "MONDO:0008067", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008067", "name": "nasopharyngeal carcinoma, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0008067", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008067", "name": "NPCA2", "description": "" }, { "id": "MONDO:0008067", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008067", "name": "Npca2", "description": "" }, { "id": "MONDO:0011775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011775", "name": "nasopharyngeal carcinoma, susceptibility to, 1", "description": "Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the TP53 gene." }, { "id": "MONDO:0011775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011775", "name": "TP53 nasopharyngeal carcinoma", "description": "" }, { "id": "MONDO:0011775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011775", "name": "nasopharyngeal carcinoma 1", "description": "" }, { "id": "MONDO:0011775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011775", "name": "nasopharyngeal carcinoma caused by mutation in TP53", "description": "" }, { "id": "MONDO:0011775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011775", "name": "nasopharyngeal carcinoma, somatic", "description": "" }, { "id": "MONDO:0011775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011775", "name": "nasopharyngeal carcinoma, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011775", "name": "NPC", "description": "" }, { "id": "MONDO:0011775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011775", "name": "Npca", "description": "" }, { "id": "MONDO:0011775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011775", "name": "nasopharyngeal cancer", "description": "" }, { "id": "MONDO:0011775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011775", "name": "nasopharyngeal carcinoma", "description": "" } ], "evidence": [ { "id": "9261", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ] }, { "disease_id": "DOID:9538", "recommended_name": { "id": "DOID:9538", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow." }, "synonyms": [ { "id": "DOID:9538", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9538", "name": "myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloma", "description": "A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Kahler disease", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Kahler's disease", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "medullary plasmacytoma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma, resistance to, Somatic mutation", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma, susceptibility to, Somatic mutation", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma/plasma cell myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloid neoplasm of plasma cell", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma, multiple", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma, plasma cell, malignant", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myelomatosis", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloid neoplasm", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Al amyloidosis", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "amyloidosis, systemic", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma - multiple", "description": "" }, { "id": "MIM:254500", "resource": "MIM", "url": "https://www.omim.org/entry/254500", "name": "Multiple myeloma", "description": "Multiple myeloma" } ], "evidence": [ { "id": "9538", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ] }, { "disease_id": "DOID:9655", "recommended_name": { "id": "DOID:9655", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9655", "name": "oral mucosa leukoplakia", "description": "A mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with smoking." }, "synonyms": [], "evidence": [ { "id": "9655", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9655" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "common_name": "Rat" } ], "gene": [ { "name": "Tp53", "url": "https://www.uniprot.org/uniprot/P10361", "locus": { "chromosome": "10", "start_pos": 54311524, "end_pos": 54300048, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000010756", "url": "https://www.ensembl.org/id/ENSRNOG00000010756" } ] } } ], "crossref": [ { "id": "ENSRNOG00000010756", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000010756", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd08367", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd08367", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "24842", "url": "https://www.ncbi.nlm.nih.gov/gene/24842", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "P10361", "url": "https://www.ebi.ac.uk/intact/interactors/id:P10361*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002117", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002117", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008967", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008967", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR010991", "url": "https://www.ebi.ac.uk/interpro/entry/IPR010991", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011615", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011615", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR012346", "url": "https://www.ebi.ac.uk/interpro/entry/IPR012346", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013872", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013872", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036674", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036674", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "rno:24842", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:24842", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "HKKGEPC", "url": "https://omabrowser.org/oma/group/HKKGEPC/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2902631at2759", "url": "http://www.orthodb.org/?query=2902631at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11447", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11447", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11447:SF6", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11447:SF6", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00870", "url": "http://pfam.xfam.org/family/PF00870", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07710", "url": "http://pfam.xfam.org/family/PF07710", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF08563", "url": "http://pfam.xfam.org/family/PF08563", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P10361", "url": "http://purl.obolibrary.org/obo/PR_P10361", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-RNO-2559580", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-2559580", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-2559584", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-2559584", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-2559585", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-2559585", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-2559586", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-2559586", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-349425", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-349425", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-5689880", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-5689896", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-5689896", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-5693565", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-6804754", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-6804754", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-6804756", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-6804757", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-6804757", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-6804758", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-6804758", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-6804759", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-6804759", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-6804760", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-6804760", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-69473", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-69473", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-69481", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-69481", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-69541", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-69541", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-69895", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-69895", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-8852276", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-8852276", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-8941855", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-8941855", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-9833482", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_112251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112251", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "3889", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=3889", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "A0A0G2JTP9", "url": "https://www.uniprot.org/uniprot/A0A0G2JTP9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JTP9-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JTP9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2KB75", "url": "https://www.uniprot.org/uniprot/A0A0G2KB75", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2KB75-1", "url": "https://www.uniprot.org/uniprot/A0A0G2KB75-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2KBB2", "url": "https://www.uniprot.org/uniprot/A0A0G2KBB2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2KBB2-1", "url": "https://www.uniprot.org/uniprot/A0A0G2KBB2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5ZQW3", "url": "https://www.uniprot.org/uniprot/A0A8I5ZQW3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5ZQW3-1", "url": "https://www.uniprot.org/uniprot/A0A8I5ZQW3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I6AAP4", "url": "https://www.uniprot.org/uniprot/A0A8I6AAP4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I6AAP4-1", "url": "https://www.uniprot.org/uniprot/A0A8I6AAP4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I6AEF4", "url": "https://www.uniprot.org/uniprot/A0A8I6AEF4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I6AEF4-1", "url": "https://www.uniprot.org/uniprot/A0A8I6AEF4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8L2R913", "url": "https://www.uniprot.org/uniprot/A0A8L2R913", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8L2R913-1", "url": "https://www.uniprot.org/uniprot/A0A8L2R913-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10361-1", "url": "https://www.uniprot.org/uniprot/P10361-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEDSQSDMSIELPLSQETFSCLWKLLPPDDILPTTATGSPNSMEDLFLPQDVAELLEGPEEALQVSAPAAQEPGTEAPAPVAPASATPWPLSSSVPSQKTYQGNYGFHLGFLQSGTAKSVMCTYSISLNKLFCQLAKTCPVQLWVTSTPPPGTRVRAMAIYKKSQHMTEVVRRCPHHERCSDGDGLAPPQHLIRVEGNPYAEYLDDRQTFRHSVVVPYEPPEVGSDYTTIHYKYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRDSFEVRVCACPGRDRRTEEENFRKKEEHCPELPPGSAKRALPTSTSSSPQQKKKPLDGEYFTLKIRGRERFEMFRELNEALELKDARAAEESGDSRAHSSYPKTKKGQSTSRHKKPMIKKVGPDSD", "length": 391, "header": "sp|P10361-1|P53_RAT Isoform 1 of Cellular tumor antigen p53 OS=Rattus norvegicus OX=10116 GN=Tp53 PE=1 SV=1 CANONICAL=P10361-1" }, "isoforms": [ { "isoform_ac": "A0A0G2JTP9-1", "url": "", "sequence": { "sequence": "MEDSQSDMSIELPLSQETFSCSSLAHPQPTTATGSPNSMEDLFLPQDVAELLEGPEEALQVSAPAAQEPGTEAPAPVAPASATPWPLSSSVPSQKTYQGNYGFHLGFLQSGTAKSVMCTYSISLNKLFCQLAKTCPVQLWVTSTPPPGTRVRAMAIYKKSQHMTEVVRRCPHHERCSDGDGLAPPQHLIRVEGNPYAEYLDDRQTFRHSVVVPYEPPEVGSDYTTIHYKYMCNSSCMGGMNRRPILTIITLEDSSACSEAVVSHL", "length": 265, "header": "tr|A0A0G2JTP9-1|P53_RAT Computationally mapped isoform of Cellular tumor antigen p53 OS=Rattus norvegicus OX=10116 GN=Tp53 PE=1 SV=1 CANONICAL=P10361-1" }, "locus": { "chromosome": "10", "start_pos": 54309570, "end_pos": 54306942, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000080584.2", "url": "https://www.ensembl.org/id/ENSRNOT00000080584.2" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000068796.2", "url": "https://www.ensembl.org/id/ENSRNOP00000068796.2" } ] } }, { "isoform_ac": "A0A0G2KB75-1", "url": "", "sequence": { "sequence": "MEDSQSDMSIELPLSQETFSCSSLAHPQPTTATGSPNSMEDLFLPQDVAELLEGPEEALQVSAPAAQEPGTEAPAPVAPASATPWPLSSSVPSQKTYQGNYGFHLGFLQSGTIRGRERFEMFRELNEALELKDARAAEESGDSRAHSSYPKTKKGQSTSRHKKPMIKKVGPDSD", "length": 174, "header": "tr|A0A0G2KB75-1|A0A0G2KB75_RAT Computationally mapped isoform of Tumor protein p53 OS=Rattus norvegicus OX=10116 GN=Tp53 PE=4 SV=2 CANONICAL=P10361-1" }, "locus": { "chromosome": "10", "start_pos": 54311073, "end_pos": 54306942, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000091216.2", "url": "https://www.ensembl.org/id/ENSRNOT00000091216.2" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000075683.2", "url": "https://www.ensembl.org/id/ENSRNOP00000075683.2" } ] } }, { "isoform_ac": "A0A0G2KBB2-1", "url": "", "sequence": { "sequence": "MEDSQSDMSIELPLSQETFSCLWKLLPPDDILPTTATGSPNSMEDLFLPQDVAELLEGPEEALQVSAPAAQEPGTEAPAPVAPASATPWPLSSSVPSQKTYQGNYGFHLGFLQSGTAKSVMCTYSISLNKLFCQLAKTCPVQLWVTSTPPPGTRVRAMAIYKKSQHMTEVVRRCPHHERCSDGDGLAPPQHLIRVEGNPYAEYLDDRQTFRHSVVVPYEPPEVGSDYTTIHYKYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRDSFEVRVCACPGRDRRTEEENFRKKEEHCPELPPGSAKRALPTSTSSSPQQKKKPLDGEYFTLKIRGRERFEMFRELNEALELKDARAAEESGDSRAHSRCPSSARRCGYGYSALANARVL", "length": 386, "header": "tr|A0A0G2KBB2-1|P53_RAT Computationally mapped isoform of Cellular tumor antigen p53 OS=Rattus norvegicus OX=10116 GN=Tp53 PE=1 SV=2 CANONICAL=P10361-1" }, "locus": { "chromosome": "10", "start_pos": 54310547, "end_pos": 54306942, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000083458.2", "url": "https://www.ensembl.org/id/ENSRNOT00000083458.2" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000075724.2", "url": "https://www.ensembl.org/id/ENSRNOP00000075724.2" } ] } }, { "isoform_ac": "A0A8I5ZQW3-1", "url": "", "sequence": { "sequence": "MLMETPTTATGSPNSMEDLFLPQDVAELLEGPEEALQVSAPAAQEPGTEAPAPVAPASATPWPLSSSVPSQKTYQGNYGFHLGFLQSGTAKSVMCTYSISLNKLFCQLAKTCPVQLWVTSTPPPGTRVRAMAIYKKSQHMTEVVRRCPHHERCSDGDGLAPPQHLIRVEGNPYAEYLDDRQTFRHSVVVPYEPPEVGSDYTTIHYKYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRDSFEVRVCACPGRDRRTEEENFRKKEEHCPELPPGSAKRALPTSTSSSPQQKKKPLDGEYFTLKIRGRERFEMFRELNEALELKDARAAEESGDSRAHSSYPKTKKGQSTSRHKKPMIKKVGPDSD", "length": 364, "header": "tr|A0A8I5ZQW3-1|P53_RAT Computationally mapped isoform of Cellular tumor antigen p53 OS=Rattus norvegicus OX=10116 GN=Tp53 PE=1 SV=1 CANONICAL=P10361-1" }, "locus": { "chromosome": "10", "start_pos": 54311073, "end_pos": 54307001, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000102405.1", "url": "https://www.ensembl.org/id/ENSRNOT00000102405.1" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000080907.1", "url": "https://www.ensembl.org/id/ENSRNOP00000080907.1" } ] } }, { "isoform_ac": "A0A8I6AAP4-1", "url": "", "sequence": { "sequence": "MFSLQITVMEDSQSDMSIELPLSQETFSCLWKLLPPDDILPTTATGSPNSMEDLFLPQDVAELLEGPEEALQVSAPAAQEPGTEAPAPVAPASATPWPLSSSVPSQKTYQGNYGFHLGFLQSGTAKSVMCTYSISLNKLFCQLAKTCPVQLWVTSTPPPGTRVRAMAIYKKSQHMTEVVRRCPHHERCSDGDGLAPPQHLIRVEGNPYAEYLDDRQTFRHSVVVPYEPPEVGSDYTTIHYKYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRDSFEVRVCACPGRDRRTEEENFRKKEEHCPELPPGSAKRALPTSTSSSPQQKKKPLDGEYFTLKIRGRERFEMFRELNEALELKDARAAEESGDSRAHSSLQPRTFQALIKKESPNC", "length": 390, "header": "tr|A0A8I6AAP4-1|P53_RAT Computationally mapped isoform of Cellular tumor antigen p53 OS=Rattus norvegicus OX=10116 GN=Tp53 PE=1 SV=1 CANONICAL=P10361-1" }, "locus": { "chromosome": "10", "start_pos": 54310951, "end_pos": 54306918, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000114382.1", "url": "https://www.ensembl.org/id/ENSRNOT00000114382.1" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000089020.1", "url": "https://www.ensembl.org/id/ENSRNOP00000089020.1" } ] } }, { "isoform_ac": "A0A8I6AEF4-1", "url": "", "sequence": { "sequence": "MHPYSTQMFSLQITVMEDSQSDMSIELPLSQETFSCLWKLLPPDDILPTTATGSPNSMEDLFLPQDVAELLEGPEEALQVSAPAAQEPGTEAPAPVAPASATPWPLSSSVPSQKTYQGNYGFHLGFLQSGTAKSVMCTYSISLNKLFCQLAKTCPVQLWVTSTPPPGTRVRAMAIYKKSQHMTEVVRRCPHHERCSDGDGLAPPQHLIRVEGNPYAEYLDDRQTFRHSVVVPYEPPEVGSDYTTIHYKYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRDSFEVRVCACPGRDRRTEEENFRKKEEHCPELPPGSAKRALPTSTSSSPQQKKKPLDGEYFTLKIRGRERFEMFRELNEALELKDARAAEESGDSRAHSSYPKTKKGQSTSRHKKPMIKKVGPDSD", "length": 406, "header": "tr|A0A8I6AEF4-1|P53_RAT Computationally mapped isoform of Cellular tumor antigen p53 OS=Rattus norvegicus OX=10116 GN=Tp53 PE=1 SV=1 CANONICAL=P10361-1" }, "locus": { "chromosome": "10", "start_pos": 54311073, "end_pos": 54306897, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000104927.1", "url": "https://www.ensembl.org/id/ENSRNOT00000104927.1" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000092831.1", "url": "https://www.ensembl.org/id/ENSRNOP00000092831.1" } ] } }, { "isoform_ac": "A0A8L2R913-1", "url": "", "sequence": { "sequence": "MEDSQSDMSIELPLSQETFSCLWKLLPPDDILPTTATGSPNSMEDLFLPQDVAELLEGPEEALQVSAPAAQEPGTEAPAPVAPASATPWPLSSSVPSQKTYQGNYGFHLGFLQSGTAKSVMCTYSISLNKLFCQLAKTCPVQLWVTSTPPPGTRVRAMAIYKKSQHMTEVVRRCPHHERCSDGLAPPQHLIRVEGNPYAEYLDDRQTFRHSVVVPYEPPEVGSDYTTIHYKYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRDSFEVRVCACPGRDRRTEEENFRKKEEHCPELPPGTLPTSTSSSPQQKKKPLDGEYFTLKIRGRERFEMFRELNEALELKDARAAEESGDSRAHSSYPKTKKGQSTSRHKKPMIKKVGPDSD", "length": 385, "header": "tr|A0A8L2R913-1|A0A8L2R913_RAT Computationally mapped isoform of Cellular tumor antigen p53 OS=Rattus norvegicus OX=10116 GN=Tp53 PE=3 SV=1 CANONICAL=P10361-1" }, "locus": { "chromosome": "10", 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T, Tao Y, Wang X, Li L, Liu J", "evidence": [ { "database": "RefSeq", "id": "NP_112251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112251" } ], "reference": [ { "type": "PubMed", "id": "35538032", "url": "https://glygen.org/publication/PubMed/35538032" } ] }, { "title": "CXCL10 is a novel anti-angiogenic factor downstream of p53 in cardiomyocytes.", "journal": "Physiological reports", "date": "2022", "authors": "Wahyuni T, Tanaka S, Igarashi R, Miyake Y, Yamamoto A, Mori S, Kametani Y, Tomimatsu M, Suzuki S, Yokota K, Okada Y, Maeda M, Obana M, Fujio Y", "evidence": [ { "database": "RefSeq", "id": "NP_112251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112251" } ], "reference": [ { "type": "PubMed", "id": "35542987", "url": "https://glygen.org/publication/PubMed/35542987" } ] }, { "title": "Self-limiting bidirectional positive feedback between P53 and P21 is involved in cardiac hypertrophy.", "journal": "European journal of pharmacology", "date": "2022", "authors": "Hong JH, Ding YY, Li JM, Pan XC, Liu Y, Zhang HG", "evidence": [ { "database": "RefSeq", "id": "NP_112251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112251" } ], "reference": [ { "type": "PubMed", "id": "36044972", "url": "https://glygen.org/publication/PubMed/36044972" } ] }, { "title": "Blocking P2RX7 Attenuates Ferroptosis in Endothelium and Reduces HG-induced Hemorrhagic Transformation After MCAO by Inhibiting ERK1/2 and P53 Signaling Pathways.", "journal": "Molecular neurobiology", "date": "2022-10-25", "authors": "Liu Chengli, Tian Qi, Wang Jianfeng, He Peibang, Han Shoumeng, Guo Yujia, Yang Chen, Wang Guijun, Wei Heng, Li Mingchang", "evidence": [ { "database": "RefSeq", "id": "NP_112251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112251" } ], "reference": [ { "type": "PubMed", "id": "36282438", "url": "https://glygen.org/publication/PubMed/36282438" } ] }, { "title": "Drp1/p53 interaction mediates p53 mitochondrial localization and dysfunction in septic cardiomyopathy.", 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"https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "protein self-association", "id": "GO:0043621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043621", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "receptor tyrosine kinase binding", "id": "GO:0030971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030971", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "protein phosphatase 2A binding", "id": "GO:0051721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051721", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "copper ion binding", "id": "GO:0005507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005507", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "mRNA 3'-UTR binding", "id": "GO:0003730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003730", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "TFIID-class transcription factor complex binding", "id": "GO:0001094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001094", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "core promoter sequence-specific DNA binding", "id": "GO:0001046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001046", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0097371", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "disordered domain specific binding", "id": "GO:0097718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097718", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "promoter-specific chromatin binding", "id": "GO:1990841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "histone deacetylase regulator activity", "id": "GO:0035033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035033", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "molecular function activator activity", "id": "GO:0140677", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "14-3-3 protein binding", "id": "GO:0071889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071889", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "cis-regulatory region sequence-specific DNA binding", "id": "GO:0000987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000987", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "transcription coregulator binding", "id": "GO:0001221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001221", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "general transcription initiation factor binding", "id": "GO:0140296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140296", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 19, "go_terms": [ { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "PML body", "id": "GO:0016605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016605", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": 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"https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulator complex", "id": "GO:0090575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090575", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 165, "go_terms": [ { "name": "protein tetramerization", "id": "GO:0051262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051262", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "rhythmic process", "id": "GO:0048511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048511", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": 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"P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "negative regulation of stem cell proliferation", "id": "GO:2000647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000647", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "T cell lineage commitment", "id": "GO:0002360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002360", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "regulation of fibroblast apoptotic process", "id": "GO:2000269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000269", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "viral process", "id": "GO:0016032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016032", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": 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"https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "positive regulation of transcription from RNA polymerase II promoter in response to hypoxia", "id": "GO:0061419", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061419", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "cellular response to actinomycin D", "id": "GO:0072717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072717", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "positive regulation of programmed necrotic cell death", "id": "GO:0062100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062100", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "negative regulation of pentose-phosphate shunt", "id": "GO:1905856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905856", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "negative regulation of G1 to G0 transition", "id": "GO:1903451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903451", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "embryo development ending in birth or egg hatching", "id": "GO:0009792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009792", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "cellular response to triglyceride", "id": "GO:0071401", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071401", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "response to gamma radiation", "id": "GO:0010332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010332", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "response to ethanol", "id": 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"id": "GO:0010224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010224", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "regulation of cellular senescence", "id": "GO:2000772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000772", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "response to metal ion", "id": "GO:0010038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010038", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "positive regulation of leukocyte migration", "id": "GO:0002687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002687", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "mitotic G1 DNA damage checkpoint signaling", "id": "GO:0031571", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031571", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "response to vitamin B3", "id": "GO:0033552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033552", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "regulation of thymocyte apoptotic process", "id": "GO:0070243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070243", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" }, { "name": "signal transduction by p53 class mediator", "id": "GO:0072331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072331", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 237, "end_pos": 239, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Acetylation of Lys-380 by CREBBP enhances transcriptional activity. Acetylation of Lys-380 by EP300. Deacetylation of Lys-380 by SIRT1 impairs its ability to induce proapoptotic program and modulate cell senescence. Deacetylation by SIRT2 impairs its ability to induce transcription activation in a AKT-dependent manner. Acetylation at Lys-379 increases stability. Deacetylation at Lys-379 by SIRT6 decreases its stability, thereby regulating cell senescence.", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" }, { "database": "PubMed", "id": "P04637", "url": "https://glygen.org/publication/PubMed/P04637" } ] }, { "annotation": "Monomethylated at Lys-370 by SETD7, leading to stabilization and increased transcriptional activation. Monomethylated at Lys-368 by SMYD2, leading to decreased DNA-binding activity and subsequent transcriptional regulation activity. Lys-370 monomethylation prevents interaction with SMYD2 and subsequent monomethylation at Lys-368. Dimethylated at Lys-371 by EHMT1 and EHMT2. Monomethylated at Lys-380 by KMT5A, promoting interaction with L3MBTL1 and leading to repress transcriptional activity. Demethylation of dimethylated Lys-368 by KDM1A prevents interaction with TP53BP1 and represses TP53-mediated transcriptional activation (By similarity). Monomethylated at Arg-331 and dimethylated at Arg-333 and Arg-335 by PRMT5; methylation is increased after DNA damage and might possibly affect TP53 target gene specificity (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" }, { "database": "PubMed", "id": "P04637", "url": "https://glygen.org/publication/PubMed/P04637" } ] }, { "annotation": "Phosphorylation on Ser residues mediates transcriptional activation. Phosphorylation at Ser-9 by HIPK4 increases repression activity on BIRC5 promoter (By similarity). Phosphorylated on Thr-18 by VRK1, which may prevent the interaction with MDM2. Phosphorylated on Ser-20 by CHEK2 in response to DNA damage, which prevents ubiquitination by MDM2. Phosphorylated on Ser-20 by PLK3 in response to reactive oxygen species (ROS), promoting p53/TP53-mediated apoptosis. Probably phosphorylated on by CDK7 in a CAK complex in response to DNA damage. Phosphorylated by HIPK1. Phosphorylated on Ser-390 following UV but not gamma irradiation. Stabilized by CDK5-mediated phosphorylation in response to genotoxic and oxidative stresses at Ser-15, leading to accumulation of p53/TP53, particularly in the nucleus, thus inducing the transactivation of p53/TP53 target genes. Phosphorylated at Ser-313 and Ser-390 by CDK2 in response to DNA-damage (By similarity). Phosphorylation at Ser-15 is required for interaction with DDX3X and gamma-tubulin (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" }, { "database": "PubMed", "id": "P04637", "url": "https://glygen.org/publication/PubMed/P04637" } ] }, { "annotation": "Ubiquitinated by MDM2 and SYVN1, which leads to proteasomal degradation. Ubiquitinated by RFWD3, which works in cooperation with MDM2 and may catalyze the formation of short polyubiquitin chains on p53/TP53 that are not targeted to the proteasome. Ubiquitinated by MKRN1, which leads to proteasomal degradation. Deubiquitinated by USP10, leading to stabilize it. Ubiquitinated by TRIM24, RFFL, RNF34 and RNF125, which leads to proteasomal degradation. Ubiquitination by TOPORS induces degradation. Deubiquitination by USP7, leading to stabilize it. Ubiquitinated by COP1, which leads to proteasomal degradation (By similarity). Ubiquitination and subsequent proteasomal degradation is negatively regulated by CCAR2 (By similarity). Polyubiquitinated by C10orf90/FATS, polyubiquitination is 'Lys-48'-linkage independent and non-proteolytic, leading to TP53 stabilization (By similarity). Polyubiquitinated by MUL1 at Lys-24 which leads to proteasomal degradation (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprot/P10361" }, { "database": "PubMed", "id": "P02340", "url": "https://glygen.org/publication/PubMed/P02340" }, { "database": "PubMed", "id": "P04637", "url": "https://glygen.org/publication/PubMed/P04637" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 12 }, { "field": "total_sites", "count": 11 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 12 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }