{ "uniprot_canonical_ac": "P25086-1", "uniprot_ac": "P25086", "uniprot_id": "IL1RA_RAT", "mass": { "chemical_mass": 20282.0, "monoisotopic_mass": 20282.0 }, "refseq": { "ac": "NP_071530", "name": "interleukin-1 receptor antagonist protein precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071530" }, "gene_names": [ { "name": "Il1rn", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P25086", "id": "P25086" }, { "name": "IL-1ra", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071530", "id": "NP_071530" }, { "name": "Il-1ra", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P25086", "id": "P25086" }, { "name": "Il1rn", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071530", "id": "NP_071530" } ], "protein_names": [ { "name": "Interleukin-1 receptor antagonist protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P25086" }, { "name": "IL-1RN", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P25086" }, { "name": "IL-1ra", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P25086" }, { "name": "IL1 inhibitor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P25086" }, { "name": "IRAP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P25086" }, { "name": "interleukin-1 receptor antagonist protein isoform X2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006233698", "id": "XP_006233698" }, { "name": "interleukin-1 receptor antagonist protein precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071530", "id": "NP_071530" }, { "name": "interleukin-1 receptor antagonist protein; IRAP; IL-1RN; IL1 inhibitor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071530", "id": "NP_071530" } ], "function": [ { "annotation": "Anti-inflammatory antagonist of interleukin-1 family of proinflammatory cytokines such as interleukin-1beta/IL1B and interleukin-1alpha/IL1A. Protects from immune dysregulation and uncontrolled systemic inflammation triggered by IL1 for a range of innate stimulatory agents such as pathogens.", "evidence": [ { "database": "UniProtKB", "id": "P25086", "url": "https://www.uniprot.org/uniprot/P25086#function" }, { "database": "UniProtKB", "id": "P25085", "url": "https://www.uniprot.org/uniprot/P25085#function" } ] }, { "annotation": "G-protein-coupled estrogen receptor activation upregulates interleukin-1 receptor antagonist in the hippocampus after global cerebral ischemia: implications for neuronal self-defense. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_071530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071530" }, { "database": "PubMed", "id": "32007102", "url": "https://glygen.org/publication/PubMed/32007102" } ] }, { "annotation": "IL-1beta is the key trigger of neuroinflammation and that IL-1ra prevents the neuroinflammation entering the chronic state Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_071530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071530" }, { "database": "PubMed", "id": "24621600", "url": "https://glygen.org/publication/PubMed/24621600" } ] }, { "annotation": "Interleukin-1beta and interleukin-1 receptor antagonist appear in grey matter additionally to white matter during experimental multiple sclerosis Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_071530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071530" }, { "database": "PubMed", "id": "24376764", "url": "https://glygen.org/publication/PubMed/24376764" } ] } ], "disease": [ { "disease_id": "DOID:0050589", "recommended_name": { "id": "DOID:0050589", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract." }, "synonyms": [ { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "inflammatory bowel disease 1", "description": "Any inflammatory bowel disease in which the cause of the disease is a mutation in the NOD2 gene." }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "IBD1", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "NOD2 inflammatory bowel disease", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "crohn disease-associated growth failure", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "inflammatory bowel disease 1", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "inflammatory bowel disease 1, Crohn disease", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "inflammatory bowel disease caused by mutation in NOD2", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "inflammatory bowel disease type 1", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "Crohn disease", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "Crohn disease-associated Growth failure, susceptibility to", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "inflammatory bowel disease (Crohn disease) 1", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "paediatric ulcerative colitis", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "pediatric ulcerative colitis", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "regional enteritis", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "ulcerative colitis", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "ulcerative colitis, paediatric", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "ulcerative colitis, pediatric", "description": "" }, { "id": "MIM:266600", "resource": "MIM", "url": "https://www.omim.org/entry/266600", "name": "Inflammatory bowel disease 1", "description": "Inflammatory bowel disease 1" } ], "evidence": [ { "id": "0050589", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ] }, { "disease_id": "DOID:0050854", "recommended_name": { "id": "DOID:0050854", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050854", "name": "Muckle-Wells syndrome", "description": "A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44." }, "synonyms": [ { "id": "DOID:0050854", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050854", "name": "MWS", "description": "" }, { "id": "DOID:0050854", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050854", "name": "neutrophilic urticaria", "description": "" }, { "id": "MONDO:0008633", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008633", "name": "Muckle-Wells syndrome", "description": "An intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)." }, { "id": "MONDO:0008633", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008633", "name": "Muckle-Wells syndrome", "description": "" }, { "id": "MONDO:0008633", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008633", "name": "neutrophilic urticaria", "description": "" }, { "id": "MONDO:0008633", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008633", "name": "Cryopyrin-associated periodic syndrome 2", "description": "" }, { "id": "MONDO:0008633", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008633", "name": "MUCKLE-Wells syndrome", "description": "" }, { "id": "MONDO:0008633", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008633", "name": "MWS", "description": "" }, { "id": "MONDO:0008633", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008633", "name": "Muckle Wells syndrome", "description": "" }, { "id": "MONDO:0008633", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008633", "name": "Uda syndrome", "description": "" }, { "id": "MONDO:0008633", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008633", "name": "urticaria, deafness and amyloidosis", "description": "" }, { "id": "MONDO:0008633", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008633", "name": "urticaria-deafness-amyloidosis syndrome", "description": "" }, { "id": "MIM:191900", "resource": "MIM", "url": "https://www.omim.org/entry/191900", "name": "Muckle-Wells syndrome", "description": "Muckle-Wells syndrome" } ], "evidence": [ { "id": "0050854", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050854" } ] }, { "disease_id": "DOID:0080158", "recommended_name": { "id": "DOID:0080158", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080158", "name": "herpes simplex virus keratitis", "description": "A keratitis that has_material_basis_in herpes simplex type infection." }, "synonyms": [ { "id": "DOID:0080158", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080158", "name": "dendritic keratitis", "description": "" } ], "evidence": [ { "id": "0080158", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080158" } ] }, { "disease_id": "DOID:0080162", "recommended_name": { "id": "DOID:0080162", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080162", "name": "lupus nephritis", "description": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus." }, "synonyms": [], "evidence": [ { "id": "0080162", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080162" } ] }, { "disease_id": "DOID:0080208", "recommended_name": { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five cardiometabolic risk factors (adjusted for age, sex and ethnicity), alcohol consumption below 140g/week (female) or 210g/week (male), and no other discernible cause. The five cardiometabolic risk factors are:(1) Body mass index 25 kg/m2 (adult), 23 kg/m2 (adult Asian), or 85th percentile (pediatric); waist circumference > 94 cm (adult male), 80 cm (adult female), or 95th percentile (pediatric); or ethnicity adjusted equivalents.(2) Fasting serum glucose 5.6 mmol/L, 2-hr post-load glucose levels 7.8 mmol/L, glycated hemoglobin (HbA1c) 5.7% (39 mmol/L), type 2 diabetes, treatment for type 2 diabetes, previously diagnosed or treated type 2 diabetes (pediatric only), or serum glucose 11.1 mmol/L (pediatric only).(3) Blood pressure lower of 130/85 mmHg or 95th percentile (age < 13 years), or 130/85 mmHg (age 13 years); or specific hypertensive drug treatment.(4) Plasma triglycerides 1.15 mmol/L (age < 10 years) or 1.70 mmol/L (age 10 years); or lipid lowering treatment.(5) Plasma high-density lipoprotein cholesterol 1.0 mmol/L (adult male, pediatric) or 1.3 mmol/L (adult female); or lipid lowering treatment." }, "synonyms": [ { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "non-alcoholic fatty liver disease", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "NAFLD", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "metabolic dysfunction-associated fatty liver disease", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "metabolic dysfunction-related steatotic liver disease", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "MAFLD", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "MASLD", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "metabolic-associated fatty liver disease", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "nonalcoholic fatty liver disease", "description": "" }, { "id": "MONDO:0013246", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013246", "name": "fatty liver disease, nonalcoholic, susceptibility to, 2", "description": "" }, { "id": "MONDO:0013246", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013246", "name": "NAFLD2", "description": "" }, { "id": "MONDO:0013246", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013246", "name": "fatty liver disease, nonalcoholic, susceptibility to, 2", "description": "" }, { "id": "MONDO:0021105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021105", "name": "NAFLD1", "description": "" }, { "id": "MONDO:0021105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021105", "name": "NAFLD1", "description": "" }, { "id": "MONDO:0021105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021105", "name": "fatty liver disease, nonalcoholic, susceptibility to, 1", "description": "" }, { "id": "MONDO:0021105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021105", "name": "liver disease, alcoholic, susceptibility to, 1", "description": "" }, { "id": "MIM:613282", "resource": "MIM", "url": "https://www.omim.org/entry/613282", "name": "Non-alcoholic fatty liver disease 1", "description": "Non-alcoholic fatty liver disease 1" } ], "evidence": [ { "id": "0080208", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ] }, { "disease_id": "DOID:0080652", "recommended_name": { "id": "DOID:0080652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080652", "name": "calcium oxalate nephrolithiasis", "description": "A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has_material_basis_in compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16." }, "synonyms": [ { "id": "MONDO:0020722", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020722", "name": "nephrolithiasis susceptibility caused by SLC26A1", "description": "" }, { "id": "MONDO:0020722", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020722", "name": "CAON", "description": "" }, { "id": "MONDO:0020722", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020722", "name": "nephrolithiasis, calcium oxalate", "description": "" }, { "id": "MONDO:0020722", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020722", "name": "urolithiasis, calcium oxalate", "description": "" }, { "id": "MIM:167030", "resource": "MIM", "url": "https://www.omim.org/entry/167030", "name": "Nephrolithiasis, calcium oxalate", "description": "Nephrolithiasis, calcium oxalate" } ], "evidence": [ { "id": "0080652", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080652" } ] }, { "disease_id": "DOID:0080998", "recommended_name": { "id": "DOID:0080998", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080998", "name": "acute necrotizing pancreatitis", "description": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems." }, "synonyms": [], "evidence": [ { "id": "0080998", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080998" } ] }, { "disease_id": "DOID:0081120", "recommended_name": { "id": "DOID:0081120", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081120", "name": "Graves ophthalmopathy", "description": "An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes." }, "synonyms": [ { "id": "DOID:0081120", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081120", "name": "Graves orbitopathy", "description": "" }, { "id": "DOID:0081120", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081120", "name": "Thyroid associated ophthalmopathy", "description": "" }, { "id": "DOID:0081120", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081120", "name": "thyroid eye disease", "description": "" } ], "evidence": [ { "id": "0081120", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0081120" } ] }, { "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:10126", "recommended_name": { "id": "DOID:10126", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10126", "name": "keratoconus", "description": "A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape." }, "synonyms": [ { "id": "DOID:10126", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10126", "name": "conical cornea", "description": "" }, { "id": "MONDO:0012158", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012158", "name": "keratoconus 2", "description": "" }, { "id": "MONDO:0012158", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012158", "name": "KTCN2", "description": "" }, { "id": "MONDO:0012158", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012158", "name": "keratoconus 2", "description": "" }, { "id": "MONDO:0007851", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007851", "name": "keratoconus 1", "description": "Any keratoconus in which the cause of the disease is a mutation in the VSX1 gene." }, { "id": "MONDO:0007851", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007851", "name": "VSX1 keratoconus (disease)", "description": "" }, { "id": "MONDO:0007851", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007851", "name": "keratoconus (disease) caused by mutation in VSX1", "description": "" }, { "id": "MONDO:0007851", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007851", "name": "keratoconus 1", "description": "" }, { "id": "MONDO:0007851", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007851", "name": "keratoconus type 1", "description": "" }, { "id": "MONDO:0007851", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007851", "name": "KTCN1", "description": "" }, { "id": "MONDO:0012236", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012236", "name": "keratoconus 4", "description": "" }, { "id": "MONDO:0012236", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012236", "name": "KTCN4", "description": "" }, { "id": "MONDO:0012236", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012236", "name": "keratoconus 4", "description": "" }, { "id": "MONDO:0012069", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012069", "name": "keratoconus 3", "description": "" }, { "id": "MONDO:0012069", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012069", "name": "KTCN3", "description": "" }, { "id": "MONDO:0012069", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012069", "name": "keratoconus 3", "description": "" }, { "id": "MONDO:0013831", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013831", "name": "keratoconus 6", "description": "" }, { "id": "MONDO:0013831", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013831", "name": "KTCN6", "description": "" }, { "id": "MONDO:0013831", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013831", "name": "keratoconus 6", "description": "" }, { "id": "MONDO:0013830", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013830", "name": "keratoconus 5", "description": "" }, { "id": "MONDO:0013830", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013830", "name": "KTCN5", "description": "" }, { "id": "MONDO:0013830", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013830", "name": "keratoconus 5", "description": "" }, { "id": "MONDO:0013833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013833", "name": "keratoconus 7", "description": "" }, { "id": "MONDO:0013833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013833", "name": "KTCN7", "description": "" }, { "id": "MONDO:0013833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013833", "name": "keratoconus 7", "description": "" }, { "id": "MONDO:0013832", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013832", "name": "keratoconus 8", "description": "" }, { "id": "MONDO:0013832", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013832", "name": "KTCN8", "description": "" }, { "id": "MONDO:0013832", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013832", "name": "keratoconus 8", "description": "" }, { "id": "MIM:148300", "resource": "MIM", "url": "https://www.omim.org/entry/148300", "name": "Keratoconus 1", "description": "Keratoconus 1" } ], "evidence": [ { "id": "10126", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10126" } ] }, { "disease_id": "DOID:10140", "recommended_name": { "id": "DOID:10140", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10140", "name": "dry eye syndrome", "description": "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface." }, "synonyms": [ { "id": "DOID:10140", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10140", "name": "Tear film insufficiency", "description": "" }, { "id": "DOID:10140", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10140", "name": "dry eye disease", "description": "" } ], "evidence": [ { "id": "10140", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10140" } ] }, { "disease_id": "DOID:10247", "recommended_name": { "id": "DOID:10247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10247", "name": "pleurisy", "description": "A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs." }, "synonyms": [], "evidence": [ { "id": "10247", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10247" } ] }, { "disease_id": "DOID:10325", "recommended_name": { "id": "DOID:10325", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10325", "name": "silicosis", "description": "A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles." }, "synonyms": [ { "id": "DOID:10325", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10325", "name": "Pneumoconiosis due to silicates", "description": "" }, { "id": "DOID:10325", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10325", "name": "Silica pneumoconiosis", "description": "" }, { "id": "DOID:10325", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10325", "name": "Silicotic fibrosis of lung", "description": "" }, { "id": "DOID:10325", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10325", "name": "silicotuberculosis", "description": "" } ], "evidence": [ { "id": "10325", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10325" } ] }, { "disease_id": "DOID:10459", "recommended_name": { "id": "DOID:10459", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10459", "name": "common cold", "description": "An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus." }, "synonyms": [ { "id": "DOID:10459", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10459", "name": "Acute viral rhinopharyngitis", "description": "" }, { "id": "DOID:10459", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10459", "name": "Nasopharyngitis - acute", "description": "" }, { "id": "DOID:10459", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10459", "name": "Nasopharyngitis, acute", "description": "" }, { "id": "DOID:10459", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10459", "name": "acute coryza", "description": "" }, { "id": "DOID:10459", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10459", "name": "acute nasopharyngitis", "description": "" }, { "id": "DOID:10459", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10459", "name": "acute rhinitis", "description": "" }, { "id": "DOID:10459", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10459", "name": "rhino-sinusitis", "description": "" } ], "evidence": [ { "id": "10459", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10459" } ] }, { "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:10591", "recommended_name": { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy." }, "synonyms": [ { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "gestational hypertension", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "hypertension induced by pregnancy", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "pre-eclamptic toxaemia", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "preeclampsia", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "preeclampsia/eclampsia", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "pregnancy associated hypertension", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "pregnancy toxemia", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "proteinuric hypertension of pregnancy", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "toxaemia of pregnancy", "description": "" }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "preeclampsia/eclampsia 4", "description": "Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene." }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "Preeclampsia/eclampsia type 4", "description": "" }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "STOX1 preeclampsia", "description": "" }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "preeclampsia caused by mutation in STOX1", "description": "" }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "preeclampsia/eclampsia 4", "description": "" }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "PEE4", "description": "" }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "PREECLAMPSIA/eclampsia 4", "description": "" }, { "id": "MONDO:0012265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012265", "name": "preeclampsia/eclampsia 3", "description": "" }, { "id": "MONDO:0012265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012265", "name": "PEE3", "description": "" }, { "id": "MONDO:0012265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012265", "name": "PREECLAMPSIA/eclampsia 3", "description": "" }, { "id": "MONDO:0012264", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012264", "name": "preeclampsia/eclampsia 2", "description": "" }, { "id": "MONDO:0012264", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012264", "name": "PEE2", "description": "" }, { "id": "MONDO:0012264", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012264", "name": "PREECLAMPSIA/eclampsia 2", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "preeclampsia/eclampsia 1", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "toxaemia of pregnancy", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "toxemia of pregnancy", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "PEE1", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "PREECLAMPSIA/eclampsia 1", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "PREG1", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "hemolysis, elevated liver enzymes, and low platelet count", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "hypertension, pregnancy-induced", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome 1", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "FGFR2-related bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "perinatal lethal bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "BBDS", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia (BBD)-FGFR2 type", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome", "description": "" }, { "id": "MIM:609404", "resource": "MIM", "url": "https://www.omim.org/entry/609404", "name": "Pre-eclampsia/eclampsia 4", "description": "Pre-eclampsia/eclampsia 4" }, { "id": "MIM:614592", "resource": "MIM", "url": "https://www.omim.org/entry/614592", "name": "Bent bone dysplasia syndrome 1", "description": "Bent bone dysplasia syndrome 1" } ], "evidence": [ { "id": "10591", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ] }, { "disease_id": "DOID:106", "recommended_name": { "id": "DOID:106", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:106", "name": "pleural tuberculosis", "description": "An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac." }, "synonyms": [ { "id": "DOID:106", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:106", "name": "Pearly disease", "description": "" }, { "id": "DOID:106", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:106", "name": "Tuberculosis of pleura", "description": "" }, { "id": "DOID:106", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:106", "name": "Tuberculous pleurisy", "description": "" }, { "id": "DOID:106", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:106", "name": "Tuberculous pleuritis", "description": "" }, { "id": "DOID:106", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:106", "name": "tuberculous pleurisy in primary progressive tuberculosis", "description": "" } ], "evidence": [ { "id": "106", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:106" } ] }, { "disease_id": "DOID:10763", "recommended_name": { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries." }, "synonyms": [ { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "HTN", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "hyperpiesia", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "vascular hypertensive disorder", "description": "" } ], "evidence": [ { "id": "10763", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ] }, { "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:11123", "recommended_name": { "id": "DOID:11123", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11123", "name": "Henoch-Schoenlein purpura", "description": "A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection." }, "synonyms": [ { "id": "DOID:11123", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11123", "name": "Allergic purpura", "description": "" }, { "id": "DOID:11123", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11123", "name": "Autoimmune purpura", "description": "" }, { "id": "DOID:11123", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11123", "name": "Henoch-Sch?nlein purpura", "description": "" }, { "id": "DOID:11123", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11123", "name": "Henoch-Sch@nlein purpura", "description": "" }, { "id": "DOID:11123", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11123", "name": "Henoch-Scholein purpura", "description": "" }, { "id": "DOID:11123", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11123", "name": "Henoch-Schonlein Purpura", "description": "" }, { "id": "DOID:11123", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11123", "name": "Purpura, autoimmune", "description": "" } ], "evidence": [ { "id": "11123", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11123" } ] }, { "disease_id": "DOID:11204", "recommended_name": { "id": "DOID:11204", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11204", "name": "allergic conjunctivitis", "description": "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant." }, "synonyms": [], "evidence": [ { "id": "11204", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11204" } ] }, { "disease_id": "DOID:11382", "recommended_name": { "id": "DOID:11382", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11382", "name": "corneal neovascularization", "description": "" }, "synonyms": [], "evidence": [ { "id": "11382", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11382" } ] }, { "disease_id": "DOID:11394", "recommended_name": { "id": "DOID:11394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia." }, "synonyms": [ { "id": "DOID:11394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11394", "name": "ARDS", "description": "" }, { "id": "DOID:11394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11394", "name": "Non-cardiogenic pulmonary edema", "description": "" }, { "id": "DOID:11394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11394", "name": "Shock lung", "description": "" }, { "id": "DOID:11394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11394", "name": "adult RDS", "description": "" }, { "id": "DOID:11394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11394", "name": "acute respiratory distress syndrome", "description": "" } ], "evidence": [ { "id": "11394", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ] }, { "disease_id": "DOID:11400", "recommended_name": { "id": "DOID:11400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11400", "name": "pyelonephritis", "description": "" }, "synonyms": [], "evidence": [ { "id": "11400", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11400" } ] }, { "disease_id": "DOID:11446", "recommended_name": { "id": "DOID:11446", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11446", "name": "sciatic neuropathy", "description": "" }, "synonyms": [], "evidence": [ { "id": "11446", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ] }, { "disease_id": "DOID:11476", "recommended_name": { "id": "DOID:11476", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength." }, "synonyms": [ { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis", "description": "A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss)." }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "bone mineral density variation QTL, osteoporosis", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis, postmenopausal", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis, postmenopausal, susceptibility", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis, susceptibility to", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "fracture, hip, susceptibility to", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis, involutional", "description": "" }, { "id": "MIM:166710", "resource": "MIM", "url": "https://www.omim.org/entry/166710", "name": "Osteoporosis", "description": "Osteoporosis" } ], "evidence": [ { "id": "11476", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ] }, { "disease_id": "DOID:11573", "recommended_name": { "id": "DOID:11573", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11573", "name": "listeriosis", "description": "A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth." }, "synonyms": [ { "id": "DOID:11573", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11573", "name": "Infection by Listeria monocytogenes", "description": "" }, { "id": "DOID:11573", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11573", "name": "Listeria infection", "description": "" } ], "evidence": [ { "id": "11573", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11573" } ] }, { "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:11656", "recommended_name": { "id": "DOID:11656", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11656", "name": "cicatricial pemphigoid", "description": "A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin." }, "synonyms": [ { "id": "DOID:11656", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11656", "name": "Cicatricial pemphigoid with ocular involvement", "description": "" }, { "id": "DOID:11656", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11656", "name": "Ocular pemphigoid", "description": "" }, { "id": "DOID:11656", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11656", "name": "benign mucous membrane pemphigoid", "description": "" }, { "id": "DOID:11656", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11656", "name": "ocular pemphigus", "description": "" }, { "id": "DOID:11656", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11656", "name": "benign mucous membrane pemphigoid with ocular involvement", "description": "" }, { "id": "MONDO:0008109", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008109", "name": "ocular cicatricial pemphigoid", "description": "Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system." }, { "id": "MONDO:0008109", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008109", "name": "ocular cicatricial pemphigoid", "description": "" }, { "id": "MONDO:0008109", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008109", "name": "OCP", "description": "" }, { "id": "MONDO:0008109", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008109", "name": "cicatricial pemphigoid, ocular", "description": "" }, { "id": "MONDO:0008109", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008109", "name": "pemphigoid, ocular cicatricial", "description": "" } ], "evidence": [ { "id": "11656", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11656" } ] }, { "disease_id": "DOID:11713", "recommended_name": { "id": "DOID:11713", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11713", "name": "diabetic angiopathy", "description": "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes." }, "synonyms": [ { "id": "DOID:11713", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11713", "name": "diabetic peripheral angiopathy", "description": "" }, { "id": "DOID:11713", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11713", "name": "Diabetic vascular disorder", "description": "" } ], "evidence": [ { "id": "11713", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11713" } ] }, { "disease_id": "DOID:1184", "recommended_name": { "id": "DOID:1184", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1184", "name": "nephrotic syndrome", "description": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability." }, "synonyms": [], "evidence": [ { "id": "1184", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1184" } ] }, { "disease_id": "DOID:11981", "recommended_name": { "id": "DOID:11981", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11981", "name": "morbid obesity", "description": "" }, "synonyms": [ { "id": "DOID:11981", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11981", "name": "Severe obesity", "description": "" } ], "evidence": [ { "id": "11981", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11981" } ] }, { "disease_id": "DOID:12554", "recommended_name": { "id": "DOID:12554", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12554", "name": "hemolytic-uremic syndrome", "description": "A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs." }, "synonyms": [ { "id": "DOID:12554", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12554", "name": "haemolytic-uraemic syndrome", "description": "" }, { "id": "DOID:12554", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12554", "name": "hemolytic uremic syndrome", "description": "" } ], "evidence": [ { "id": "12554", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12554" } ] }, { "disease_id": "DOID:12894", "recommended_name": { "id": "DOID:12894", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva." }, "synonyms": [ { "id": "DOID:12894", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12894", "name": "Sicca syndrome", "description": "" }, { "id": "DOID:12894", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12894", "name": "Sjogren syndrome", "description": "" }, { "id": "DOID:12894", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12894", "name": "xerodermosteosis", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "Sjogren syndrome", "description": "An autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjgren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjgren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "Sjogren syndrome", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "Sjgren syndrome", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "Sjgren-Gougerot syndrome", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "primary Sjogren-Gougerot syndrome", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "primary Sjgren-Gougerot syndrome", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "sicca syndrome", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "syndrome, Sjogren's", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "xerodermosteosis", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "Sjogren's syndrome", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "primary Sjgren syndrome", "description": "" } ], "evidence": [ { "id": "12894", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ] }, { "disease_id": "DOID:13139", "recommended_name": { "id": "DOID:13139", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13139", "name": "crescentic glomerulonephritis", "description": "" }, "synonyms": [], "evidence": [ { "id": "13139", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13139" } ] }, { "disease_id": "DOID:13241", "recommended_name": { "id": "DOID:13241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13241", "name": "Behcet's disease", "description": "A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis." }, "synonyms": [ { "id": "DOID:13241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13241", "name": "Adamantiades-Behcet disease", "description": "" }, { "id": "DOID:13241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13241", "name": "Behcet syndrome", "description": "" }, { "id": "DOID:13241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13241", "name": "Behet's syndrome", "description": "" }, { "id": "DOID:13241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13241", "name": "triple symptom complex", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behcet disease", "description": "A chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations." }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Adamantiades-Behcet disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Bechet syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behcet disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behcet syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behcet's syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behet's syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behet disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behet syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behet-Adamantiades syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Morbus Behet's syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "silk road disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "triple symptom complex", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "BD", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behcet's disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behet's disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behets disease", "description": "" } ], "evidence": [ { "id": "13241", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ] }, { "disease_id": "DOID:13406", "recommended_name": { "id": "DOID:13406", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction." }, "synonyms": [ { "id": "DOID:13406", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13406", "name": "lung Sarcoidosis", "description": "" } ], "evidence": [ { "id": "13406", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ] }, { "disease_id": "DOID:1407", "recommended_name": { "id": "DOID:1407", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1407", "name": "anterior uveitis", "description": "" }, "synonyms": [], "evidence": [ { "id": "1407", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1407" } ] }, { "disease_id": "DOID:14115", "recommended_name": { "id": "DOID:14115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities." }, "synonyms": [ { "id": "DOID:14115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14115", "name": "TSS", "description": "" }, { "id": "DOID:14115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14115", "name": "toxic shock", "description": "" } ], "evidence": [ { "id": "14115", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ] }, { "disease_id": "DOID:1485", "recommended_name": { "id": "DOID:1485", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs." }, "synonyms": [ { "id": "DOID:1485", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1485", "name": "CF", "description": "" }, { "id": "DOID:1485", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1485", "name": "mucoviscidosis", "description": "" }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "cystic fibrosis", "description": "Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "CF", "description": "" }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "cystic fibrosis", "description": "" }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "cystic fibrosis lung disease, modifier of", "description": "" }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "mucoviscidosis", "description": "" }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis", "description": "" }, { "id": "MIM:219700", "resource": "MIM", "url": "https://www.omim.org/entry/219700", "name": "Cystic fibrosis", "description": "Cystic fibrosis" } ], "evidence": [ { "id": "1485", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ] }, { "disease_id": "DOID:1532", "recommended_name": { "id": "DOID:1532", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1532", "name": "pleural disease", "description": "A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism." }, "synonyms": [ { "id": "DOID:1532", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1532", "name": "disorder of pleura", "description": "" }, { "id": "DOID:1532", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1532", "name": "non-neoplastic pleural disease", "description": "" } ], "evidence": [ { "id": "1532", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1532" } ] }, { "disease_id": "DOID:1596", "recommended_name": { "id": "DOID:1596", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function." }, "synonyms": [ { "id": "DOID:1596", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1596", "name": "mental depression", "description": "" } ], "evidence": [ { "id": "1596", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ] }, { "disease_id": "DOID:178", "recommended_name": { "id": "DOID:178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:178", "name": "vascular disease", "description": "A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart." }, "synonyms": [ { "id": "DOID:178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:178", "name": "vascular tissue disease", "description": "" } ], "evidence": [ { "id": "178", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:178" } ] }, { "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:224", "recommended_name": { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death." }, "synonyms": [ { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "TIA", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "TIA - Transient ischaemic attack", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "Transient cerebral ischaemia", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "Transient ischemic attacks", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "transient ischemic attack", "description": "" } ], "evidence": [ { "id": "224", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:224" } ] }, { "disease_id": "DOID:2799", "recommended_name": { "id": "DOID:2799", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults." }, "synonyms": [ { "id": "DOID:2799", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2799", "name": "Bronchiolitis exudativa", "description": "" }, { "id": "DOID:2799", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2799", "name": "Bronchiolitis fibrosa obliterans", "description": "" }, { "id": "DOID:2799", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2799", "name": "Obliterative bronchiolitis", "description": "" } ], "evidence": [ { "id": "2799", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ] }, { "disease_id": "DOID:2841", "recommended_name": { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing." }, "synonyms": [ { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "Exercise induced asthma", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "bronchial hyperreactivity", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma with acute exacerbation", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma with status asthmaticus", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "exercise-induced asthma", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "inherited susceptibility to asthma", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, nocturnal, susceptibility to", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, bronchial", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, diminished response to Antileukotriene treatment 1N", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, protection against", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, susceptibility to", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma-related traits, susceptibility to", "description": "" }, { "id": "MIM:600807", "resource": "MIM", "url": "https://www.omim.org/entry/600807", "name": "Asthma", "description": "Asthma" } ], "evidence": [ { "id": "2841", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ] }, { "disease_id": "DOID:285", "recommended_name": { "id": "DOID:285", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:285", "name": "hairy cell leukemia", "description": "A chronic lymphocytic leukemia that is characterized by over production of B cells (lymphocytes) by the bone marrow where the B cells appear hairy under a microscope." }, "synonyms": [], "evidence": [ { "id": "285", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:285" } ] }, { "disease_id": "DOID:2921", "recommended_name": { "id": "DOID:2921", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney." }, "synonyms": [], "evidence": [ { "id": "2921", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ] }, { "disease_id": "DOID:2942", "recommended_name": { "id": "DOID:2942", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2942", "name": "bronchiolitis", "description": "A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen." }, "synonyms": [], "evidence": [ { "id": "2942", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2942" } ] }, { "disease_id": "DOID:2957", "recommended_name": { "id": "DOID:2957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis." }, "synonyms": [], "evidence": [ { "id": "2957", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ] }, { "disease_id": "DOID:2986", "recommended_name": { "id": "DOID:2986", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus." }, "synonyms": [ { "id": "DOID:2986", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2986", "name": "Berger's IgA or IgG nephropathy", "description": "" }, { "id": "DOID:2986", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2986", "name": "Focal Glomerulonephritis", "description": "" }, { "id": "DOID:2986", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2986", "name": "IgA nephropathy", "description": "" }, { "id": "DOID:2986", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2986", "name": "primary IgA nephropathy", "description": "" }, { "id": "DOID:2986", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2986", "name": "segmental glomerulonephritis", "description": "" }, { "id": "MONDO:0008072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008072", "name": "IgA nephropathy, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008072", "name": "IGAN1", "description": "" }, { "id": "MONDO:0008072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008072", "name": "IgA nephropathy, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008072", "name": "Igan", "description": "" }, { "id": "MONDO:0008072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008072", "name": "berger disease", "description": "" }, { "id": "MONDO:0008072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008072", "name": "glomerulonephritis, IgA", "description": "" }, { "id": "MONDO:0008072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008072", "name": "nephritis, IgA type", "description": "" } ], "evidence": [ { "id": "2986", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ] }, { "disease_id": "DOID:3021", "recommended_name": { "id": "DOID:3021", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3021", "name": "acute kidney failure", "description": "" }, "synonyms": [], "evidence": [ { "id": "3021", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ] }, { "disease_id": "DOID:3082", "recommended_name": { "id": "DOID:3082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough." }, "synonyms": [ { "id": "DOID:3082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3082", "name": "ILD", "description": "" } ], "evidence": [ { "id": "3082", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ] }, { "disease_id": "DOID:3083", "recommended_name": { "id": "DOID:3083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both." }, "synonyms": [ { "id": "DOID:3083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3083", "name": "COLD", "description": "" }, { "id": "DOID:3083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3083", "name": "COPD", "description": "" }, { "id": "DOID:3083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3083", "name": "chronic obstructive airway disease", "description": "" }, { "id": "DOID:3083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3083", "name": "chronic obstructive lung disease", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive pulmonary disease", "description": "A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema." }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "COPD", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "COPD, chronic obstructive pulmonary disease", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive airway disease", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive airways disease", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive lung disease", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive pulmonary disease (COPD)", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive pulmonary disease, (COPD)", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "cold", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "cold (chronic obstructive lung disease)", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "disease (COPD), chronic obstructive", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "obstructive lung disease, chronic", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "obstructive pulmonary disease (COPD), chronic", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "pulmonary disease (COPD), chronic obstructive", "description": "" } ], "evidence": [ { "id": "3083", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ] }, { "disease_id": "DOID:3525", "recommended_name": { "id": "DOID:3525", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3525", "name": "middle cerebral artery infarction", "description": "" }, "synonyms": [], "evidence": [ { "id": "3525", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ] }, { "disease_id": "DOID:3770", "recommended_name": { "id": "DOID:3770", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation." }, "synonyms": [ { "id": "DOID:3770", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3770", "name": "Fibrosis of lung", "description": "" } ], "evidence": [ { "id": "3770", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ] }, { "disease_id": "DOID:3904", "recommended_name": { "id": "DOID:3904", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3904", "name": "bronchus carcinoma", "description": "A bronchus cancer that has_material_basis_in epithelial cells." }, "synonyms": [ { "id": "DOID:3904", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3904", "name": "BC - Bronchogenic carcinoma", "description": "" } ], "evidence": [ { "id": "3904", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3904" } ] }, { "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:4195", "recommended_name": { "id": "DOID:4195", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4195", "name": "hyperglycemia", "description": "" }, "synonyms": [], "evidence": [ { "id": "4195", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ] }, { "disease_id": "DOID:4371", "recommended_name": { "id": "DOID:4371", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4371", "name": "Schnitzler syndrome", "description": "A hypersensitivity reaction type IV disease that is characterized by chronic urticarial rash and monoclonal IgM gammopathy, has_symptom rash, intermittent fever, arthralgia, and lymphadenopathy." }, "synonyms": [], "evidence": [ { "id": "4371", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4371" } ] }, { "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:4483", "recommended_name": { "id": "DOID:4483", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip." }, "synonyms": [], "evidence": [ { "id": "4483", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ] }, { "disease_id": "DOID:4780", "recommended_name": { "id": "DOID:4780", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries." }, "synonyms": [ { "id": "DOID:4780", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4780", "name": "anti-GBM glomerulonephritis", "description": "" } ], "evidence": [ { "id": "4780", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ] }, { "disease_id": "DOID:5199", "recommended_name": { "id": "DOID:5199", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5199", "name": "ureteral obstruction", "description": "" }, "synonyms": [], "evidence": [ { "id": "5199", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ] }, { "disease_id": "DOID:552", "recommended_name": { "id": "DOID:552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." }, "synonyms": [ { "id": "DOID:552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:552", "name": "acute pneumonia", "description": "" } ], "evidence": [ { "id": "552", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:552" } ] }, { "disease_id": "DOID:576", "recommended_name": { "id": "DOID:576", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine." }, "synonyms": [], "evidence": [ { "id": "576", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:576" } ] }, { "disease_id": "DOID:631", "recommended_name": { "id": "DOID:631", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:631", "name": "fibromyalgia", "description": "A syndrome that is is characterized by chronic widespread musculoskeletal pain, fatigue, sleep disturbances, cognitive dysfunction and depression." }, "synonyms": [], "evidence": [ { "id": "631", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:631" } ] }, { "disease_id": "DOID:633", "recommended_name": { "id": "DOID:633", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:633", "name": "myositis", "description": "A myopathy characterized by muscle inflammation." }, "synonyms": [ { "id": "DOID:633", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:633", "name": "Inflammatory disorder of muscle", "description": "" }, { "id": "MONDO:0600024", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0600024", "name": "familial idiopathic inflammatory myopathy", "description": "An instance of myositis that is caused by an inherited genomic modification in an individual, and has an unknown cause." }, { "id": "MONDO:0600024", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0600024", "name": "familial idiopathic myositis", "description": "" } ], "evidence": [ { "id": "633", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:633" } ] }, { "disease_id": "DOID:6432", "recommended_name": { "id": "DOID:6432", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries." }, "synonyms": [], "evidence": [ { "id": "6432", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ] }, { "disease_id": "DOID:7148", "recommended_name": { "id": "DOID:7148", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint." }, "synonyms": [ { "id": "DOID:7148", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7148", "name": "Arthritis or polyarthritis, rheumatic", "description": "" }, { "id": "DOID:7148", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7148", "name": "atrophic Arthritis", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "rheumatoid arthritis", "description": "A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor." }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "atrophic arthritis", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "RA", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "arthritis or polyarthritis, rheumatic", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "arthritis, rheumatoid", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "autoimmune arthritis", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "rheumatoid arthritis", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "rheumatoid arthritis, progression of", "description": "" }, { "id": "MONDO:0008383", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008383", "name": "rheumatoid arthritis, susceptibility to", "description": "" }, { "id": "MIM:180300", "resource": "MIM", "url": "https://www.omim.org/entry/180300", "name": "Rheumatoid arthritis", "description": "Rheumatoid arthritis" } ], "evidence": [ { "id": "7148", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ] }, { "disease_id": "DOID:783", "recommended_name": { "id": "DOID:783", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease." }, "synonyms": [ { "id": "DOID:783", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:783", "name": "end stage renal failure", "description": "" }, { "id": "DOID:783", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:783", "name": "end-stage kidney disease", "description": "" } ], "evidence": [ { "id": "783", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:783" } ] }, { "disease_id": "DOID:784", "recommended_name": { "id": "DOID:784", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function." }, "synonyms": [ { "id": "DOID:784", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:784", "name": "CKD", "description": "" }, { "id": "DOID:784", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:784", "name": "CRF", "description": "" }, { "id": "DOID:784", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:784", "name": "chronic kidney failure", "description": "" }, { "id": "DOID:784", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:784", "name": "chronic renal disease", "description": "" }, { "id": "DOID:784", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:784", "name": "chronic renal failure syndrome", "description": "" }, { "id": "DOID:784", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:784", "name": "renal failure - chronic", "description": "" } ], "evidence": [ { "id": "784", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:784" } ] }, { "disease_id": "DOID:824", "recommended_name": { "id": "DOID:824", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:824", "name": "periodontitis", "description": "" }, "synonyms": [ { "id": "DOID:824", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:824", "name": "chronic pericementitis", "description": "" } ], "evidence": [ { "id": "824", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:824" } ] }, { "disease_id": "DOID:8552", "recommended_name": { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells." }, "synonyms": [ { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "CML", "description": "" }, { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "CML - chronic Myelogenous Leukemia", "description": "" }, { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "Myeloid Leukemia, chronic", "description": "" }, { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "chronic granulocytic leukaemia", "description": "" }, { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "chronic granulocytic leukemia", "description": "" }, { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "chronic myelogenous leukaemia", "description": "" }, { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "chronic myelogenous leukemia", "description": "" }, { "id": "DOID:8552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8552", "name": "chronic myeloid leukaemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myelogenous leukemia, BCR-ABL1 positive", "description": "A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival." }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "BCR-ABL Positive chronic myelogenous leukaemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "BCR-ABL Positive chronic myelogenous leukemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "CML", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "CML - chronic myelogenous leukaemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "CML - chronic myelogenous leukemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic granulocytic leukaemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic granulocytic leukemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myelocytic leukaemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myelocytic leukemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myelogenous leukaemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myelogenous leukaemia (CML)", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myelogenous leukemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myelogenous leukemia (CML)", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myelogenous leukemia, BCR-ABL1 Positive", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myelogenous leukemias", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myeloid leukaemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "chronic myeloid leukemia", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "hematopoeitic - chronic myelocytic leukaemia (CML)", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "hematopoeitic - chronic myelocytic leukemia (CML)", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "leukemia, Philadelphia chromosome-positive, resistant to imatinib, Somatic mutation", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "leukemia, chronic myeloid, Philadelphia chromosome positive, somatic", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "myeloid leukemia, chronic", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "leukemia, chronic myelogenous", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "leukemia, chronic myeloid", "description": "" }, { "id": "MONDO:0011996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "name": "leukemia, chronic myeloid, atypical", "description": "" }, { "id": "MIM:608232", "resource": "MIM", "url": "https://www.omim.org/entry/608232", "name": "Leukemia, chronic myeloid, atypical", "description": "Leukemia, chronic myeloid, atypical" } ], "evidence": [ { "id": "8552", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ] }, { "disease_id": "DOID:8577", "recommended_name": { "id": "DOID:8577", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores." }, "synonyms": [ { "id": "DOID:8577", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8577", "name": "Left-sided ulcerative colitis", "description": "" } ], "evidence": [ { "id": "8577", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ] }, { "disease_id": "DOID:8924", "recommended_name": { "id": "DOID:8924", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8924", "name": "autoimmune thrombocytopenic purpura", "description": "A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies." }, "synonyms": [ { "id": "DOID:8924", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8924", "name": "Immune thrombocytopenic purpura", "description": "" }, { "id": "DOID:8924", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8924", "name": "idiopathic thrombocytopenic purpura", "description": "" }, { "id": "DOID:8924", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8924", "name": "primary thrombocytopenic purpura", "description": "" }, { "id": "MONDO:0008558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008558", "name": "autoimmune thrombocytopenic purpura", "description": "An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin." }, { "id": "MONDO:0008558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008558", "name": "ITP", "description": "" }, { "id": "MONDO:0008558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008558", "name": "autoimmune thrombocytopenic purpura", "description": "" }, { "id": "MONDO:0008558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008558", "name": "idiopathic thrombocytopenia", "description": "" }, { "id": "MONDO:0008558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008558", "name": "idiopathic thrombocytopenia purpura", "description": "" }, { "id": "MONDO:0008558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008558", "name": "idiopathic thrombocytopenic purpura", "description": "" }, { "id": "MONDO:0008558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008558", "name": "immune thrombocytopenia", "description": "" }, { "id": "MONDO:0008558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008558", "name": "primary thrombocytopenic purpura", "description": "" }, { "id": "MONDO:0008558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008558", "name": "thrombocytopenic purpura, autoimmune", "description": "" }, { "id": "MONDO:0008558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008558", "name": "AITP", "description": "" }, { "id": "MONDO:0008558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008558", "name": "Werlhof's disease", "description": "" }, { "id": "MONDO:0008558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008558", "name": "ideopath thrombocytopenic pur", "description": "" }, { "id": "MONDO:0008558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008558", "name": "idiopathic purpura", "description": "" }, { "id": "MONDO:0008558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008558", "name": "immune thrombocytopenic purpura", "description": "" }, { "id": "MONDO:0008558", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008558", "name": "thrombocytopenic purpura autoimmune", "description": "" } ], "evidence": [ { "id": "8924", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8924" } ] }, { "disease_id": "DOID:8927", "recommended_name": { "id": "DOID:8927", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8927", "name": "learning disability", "description": "A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information." }, "synonyms": [ { "id": "DOID:8927", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8927", "name": "Academic skill disorder", "description": "" }, { "id": "DOID:8927", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8927", "name": "learning disorder", "description": "" } ], "evidence": [ { "id": "8927", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8927" } ] }, { "disease_id": "DOID:898", "recommended_name": { "id": "DOID:898", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:898", "name": "autosomal dominant polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion." }, "synonyms": [ { "id": "DOID:898", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:898", "name": "Congenital biliary ectasias", "description": "" }, { "id": "DOID:898", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:898", "name": "POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1", "description": "" } ], "evidence": [ { "id": "898", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:898" } ] }, { "disease_id": "DOID:9074", "recommended_name": { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart." }, "synonyms": [ { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "Lupus Erythematosus, systemic", "description": "" }, { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "SLE - Lupus Erythematosus, systemic", "description": "" }, { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "disseminated lupus erythematosus", "description": "" }, { "id": "MONDO:0012361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012361", "name": "systemic lupus erythematosus, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012361", "name": "SLEB5", "description": "" }, { "id": "MONDO:0012361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012361", "name": "systemic lupus erythematosus, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012404", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012404", "name": "systemic lupus erythematosus, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012404", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012404", "name": "SLEB8", "description": "" }, { "id": "MONDO:0012404", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012404", "name": "systemic lupus erythematosus, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012403", "name": "systemic lupus erythematosus, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012403", "name": "SLEB7", "description": "" }, { "id": "MONDO:0012403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012403", "name": "systemic lupus erythematosus, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012836", "name": "systemic lupus erythematosus, susceptibility to, 12", "description": "" }, { "id": "MONDO:0012836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012836", "name": "SLEB12", "description": "" }, { "id": "MONDO:0012836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012836", "name": "systemic lupus erythematosus, susceptibility to, 12", "description": "" }, { "id": "MONDO:0013152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "name": "systemic lupus erythematosus, susceptibility to, 14", "description": "" }, { "id": "MONDO:0013152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "name": "SLEB14", "description": "" }, { "id": "MONDO:0013152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "name": "systemic lupus erythematosus, susceptibility to, 14", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus", "description": "An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific." }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "SLE", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "SLE - lupus erythematosus, systemic", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "disseminated lupus erythematosus", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "lupus erythematosus, systemic", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus (disease)", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus susceptibility to", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus, susceptibility to", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "excess LMW-DNA", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "excess lymphocyte low molecular weight DNA", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "lupus nephritis, susceptibility to", "description": "" }, { "id": "MONDO:0010433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010433", "name": "systemic lupus erythematosus, susceptibility to, 15", "description": "" }, { "id": "MONDO:0010433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010433", "name": "SLEB15", "description": "" }, { "id": "MONDO:0010433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010433", "name": "systemic lupus erythematosus, susceptibility to, 15", "description": "" }, { "id": "MONDO:0012036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012036", "name": "systemic lupus erythematosus, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012036", "name": "SLEB4", "description": "" }, { "id": "MONDO:0012036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012036", "name": "systemic lupus erythematosus, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012369", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012369", "name": "systemic lupus erythematosus, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012369", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012369", "name": "SLEB6", "description": "" }, { "id": "MONDO:0012369", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012369", "name": "systemic lupus erythematosus, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012884", "name": "systemic lupus erythematosus, susceptibility to, 13", "description": "" }, { "id": "MONDO:0012884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012884", "name": "SLEB13", "description": "" }, { "id": "MONDO:0012884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012884", "name": "systemic lupus erythematosus, susceptibility to, 13", "description": "" }, { "id": "MONDO:0011560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011560", "name": "systemic lupus erythematosus, susceptibility to, 3", "description": "" }, { "id": "MONDO:0011560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011560", "name": "SLEB3", "description": "" }, { "id": "MONDO:0011560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011560", "name": "systemic lupus erythematosus, susceptibility to, 3", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "autosomal systemic lupus erythematosus type 16", "description": "An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3." }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "autosomal SLE", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "familial SLE", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "familial systemic lupus erythematosus", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "SLEB16", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "systemic lupus erythematosus 16", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "systemic lupus erythematosus type 16", "description": "" }, { "id": "MIM:152700", "resource": "MIM", "url": "https://www.omim.org/entry/152700", "name": "Systemic lupus erythematosus", "description": "Systemic lupus erythematosus" }, { "id": "MIM:609939", "resource": "MIM", "url": "https://www.omim.org/entry/609939", "name": "Systemic lupus erythematosus 6", "description": "Systemic lupus erythematosus 6" }, { "id": "MIM:614420", "resource": "MIM", "url": "https://www.omim.org/entry/614420", "name": "Systemic lupus erythematosus 16", "description": "Systemic lupus erythematosus 16" } ], "evidence": [ { "id": "9074", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ] }, { "disease_id": "DOID:9352", "recommended_name": { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin." }, "synonyms": [ { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "NIDDM", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "non-insulin-dependent diabetes mellitus", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type 2 diabetes", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type II diabetes mellitus", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "insulin resistance", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, type 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "Niddm4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "noninsulin-dependent diabetes mellitus 4", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus", "description": "A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "NIDDM", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "T2DM - type 2 diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "adult onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "adult-onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitis type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitis type II", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, association with", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, late onset", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type II", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes, type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "insulin resistance, severe, digenic", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin dependent diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin-dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "noninsulin dependent diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "noninsulin-dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus non-insulin dependent", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type II diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type II diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, non-insulin-dependent, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2, protection against", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type II, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "hypertension, insulin resistance-related, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "insulin resistance, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "maturity-onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus, susceptibility to", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, type 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "NIDDM1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "noninsulin-dependent diabetes mellitus 1", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "NIDDM2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "noninsulin-dependent diabetes mellitus 2", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, type 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "type 2 diabetes mellitus 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "NIDDM3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "noninsulin-dependent diabetes mellitus 3", "description": "" }, { "id": "MIM:125853", "resource": "MIM", "url": "https://www.omim.org/entry/125853", "name": "Type 2 diabetes mellitus", "description": "Type 2 diabetes mellitus" }, { "id": "MIM:601283", "resource": "MIM", "url": "https://www.omim.org/entry/601283", "name": "Type 2 diabetes mellitus 1", "description": "Type 2 diabetes mellitus 1" } ], "evidence": [ { "id": "9352", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ] }, { "disease_id": "DOID:9498", "recommended_name": { "id": "DOID:9498", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9498", "name": "pulmonary eosinophilia", "description": "A hypereosinophilic syndrome characterized by the accumulation of eosinophils in the lungs." }, "synonyms": [], "evidence": [ { "id": "9498", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9498" } ] }, { "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:9588", "recommended_name": { "id": "DOID:9588", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9588", "name": "encephalitis", "description": "A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms." }, "synonyms": [], "evidence": [ { "id": "9588", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9588" } ] }, { "disease_id": "DOID:9744", "recommended_name": { "id": "DOID:9744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production." }, "synonyms": [ { "id": "DOID:9744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9744", "name": "IDDM", "description": "" }, { "id": "DOID:9744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9744", "name": "insulin-dependent diabetes mellitus", "description": "" }, { "id": "DOID:9744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9744", "name": "type I diabetes mellitus", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "type 1 diabetes mellitus", "description": "A chronic condition characterized by minimal or absent production of insulin by the pancreas." }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "IDDM", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "diabetes mellitis type 1", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "diabetes mellitis type I", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "immune mediated diabetes", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "insulin dependent diabetes", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "insulin-dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "juvenile diabetes", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "type 1 diabetes", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "type I diabetes", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "type I diabetes mellitus", "description": "" }, { "id": "MIM:222100", "resource": "MIM", "url": "https://www.omim.org/entry/222100", "name": "Type 1 diabetes mellitus", "description": "Type 1 diabetes mellitus" } ], "evidence": [ { "id": "9744", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ] }, { "disease_id": "DOID:986", "recommended_name": { "id": "DOID:986", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:986", "name": "alopecia areata", "description": "An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots." }, "synonyms": [ { "id": "DOID:986", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:986", "name": "Circumscribed alopecia", "description": "" }, { "id": "MONDO:0007082", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007082", "name": "alopecia areata 1", "description": "" }, { "id": "MONDO:0007082", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007082", "name": "alopecia areata 1", "description": "" }, { "id": "MONDO:0007082", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007082", "name": "AA1", "description": "" }, { "id": "MONDO:0007082", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007082", "name": "alopecia universalis", "description": "" }, { "id": "MONDO:0012551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012551", "name": "alopecia areata 2", "description": "" }, { "id": "MONDO:0012551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012551", "name": "AA2", "description": "" }, { "id": "MONDO:0012551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012551", "name": "alopecia areata 2", "description": "" } ], "evidence": [ { "id": "986", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:986" } ] }, { "disease_id": "DOID:9938", "recommended_name": { "id": "DOID:9938", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9938", "name": "dacryocystitis", "description": "An acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal sac, has_symptom conjunctivitis and has_symptom purulent discharge." }, "synonyms": [], "evidence": [ { "id": "9938", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9938" } ] }, { "disease_id": "DOID:9970", "recommended_name": { "id": "DOID:9970", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness." }, "synonyms": [ { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "inherited obesity", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "genetic obesity", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "genetic obesity (disease)", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "leanness, inherited, autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "monogenic obesity", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, association with, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, early-onset, susceptibility to, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, late-onset, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, mild, early-onset, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, severe, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, severe, and type II diabetes, Autosomal recessive", "description": "" }, { "id": "MONDO:0019182", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "name": "obesity, susceptibility to, Autosomal recessive", "description": "" }, { "id": "MIM:601665", "resource": "MIM", "url": "https://www.omim.org/entry/601665", "name": "Obesity", "description": "Obesity" } ], "evidence": [ { "id": "9970", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ] } ], "snv": [], "mutagenesis": 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GN=Il1rn PE=1 SV=1 CANONICAL=P25086-1" }, "locus": { "chromosome": "3", "start_pos": 7125862, "end_pos": 7111665, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000119822.1", "url": "https://www.ensembl.org/id/ENSRNOT00000119822.1" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000081385.1", "url": "https://www.ensembl.org/id/ENSRNOP00000081385.1" } ] } }, { "isoform_ac": "A0A8I6A7A6-1", "url": "", "sequence": { "sequence": "MASAGHPAGKRPCKMQAFRIWDTNQKTFYLRNNQLIAGYLQGPNTKLEEKIDMVPIDFRNVFLGIHGGKLCLSCVKSGDDTKLQLEEVNITDLNKNKEEDKRFTFIRSETGPTTSFESLACPGWFLCTTLEADHPVSLTNTPKEPCTVTKFYFQEDQ", "length": 157, "header": "tr|A0A8I6A7A6-1|A0A8I6A7A6_RAT Computationally mapped isoform of Interleukin-1 OS=Rattus norvegicus OX=10116 GN=Il1rn PE=1 SV=1 CANONICAL=P25086-1" }, "locus": { "chromosome": "3", "start_pos": 7126070, "end_pos": 7121994, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000115274.1", "url": "https://www.ensembl.org/id/ENSRNOT00000115274.1" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000088820.1", "url": "https://www.ensembl.org/id/ENSRNOP00000088820.1" } ] } }, { "isoform_ac": "A0A8I6AA20-1", "url": "", "sequence": { "sequence": "TTAAQAESAGHPAGKRPCKMQAFRIWDTNQKTFYLRNNQLIAGYLQGPNTKLEEKIDMVPIDFRNVFLGIHGGKLCLSCVKSGDDTKLQLEEVNITDLNKNKEEDKRFTFIRSETGPTTSFESLACPGWFLCTTLEADHPVSLTNTPKEPCTVTKFYFQEDQ", "length": 162, "header": "tr|A0A8I6AA20-1|IL1RA_RAT Computationally mapped isoform of Interleukin-1 receptor antagonist protein OS=Rattus norvegicus OX=10116 GN=Il1rn PE=2 SV=1 CANONICAL=P25086-1" }, "locus": { "chromosome": "3", "start_pos": 7126070, "end_pos": 7121932, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000115476.1", "url": "https://www.ensembl.org/id/ENSRNOT00000115476.1" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000088729.1", "url": "https://www.ensembl.org/id/ENSRNOP00000088729.1" } ] } }, { "isoform_ac": "P25086-1", "url": "", "sequence": { "sequence": "MEICRGPYSHLISLLLILLFRSESAGHPAGKRPCKMQAFRIWDTNQKTFYLRNNQLIAGYLQGPNTKLEEKIDMVPIDFRNVFLGIHGGKLCLSCVKSGDDTKLQLEEVNITDLNKNKEEDKRFTFIRSETGPTTSFESLACPGWFLCTTLEADHPVSLTNTPKEPCTVTKFYFQEDQ", "length": 178, "header": "sp|P25086-1|IL1RA_RAT Isoform 1 of Interleukin-1 receptor antagonist protein OS=Rattus norvegicus OX=10116 GN=Il1rn PE=2 SV=1 CANONICAL=P25086-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 110, "start_aa": "Asn", "end_pos": 110, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn110", "evidence": [ { "id": "P25086", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25086#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Interleukin 1 receptor antagonist is a member of the interleukin 1 gene family: evolution of a cytokine control mechanism.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1991", "authors": "Eisenberg SP, Brewer MT, Verderber E, Heimdal P, Brandhuber BJ, Thompson RC", "evidence": [ { "database": "UniProtKB", "id": "P25086", "url": "https://www.uniprot.org/uniprot/P25086" } ], "reference": [ { "type": "PubMed", "id": "1828896", "url": "https://glygen.org/publication/PubMed/1828896" } ] }, { "title": "Interleukin-1beta and interleukin-1 receptor antagonist appear in grey matter additionally to white matter lesions during experimental multiple sclerosis.", "journal": "PloS one", "date": "2013", "authors": "Prins M, Eriksson C, Wierinckx A, Bol JG, Binnekade R, Tilders FJ, Van Dam AM", "evidence": [ { "database": "RefSeq", "id": "NP_071530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071530" } ], "reference": [ { "type": "PubMed", "id": "24376764", "url": "https://glygen.org/publication/PubMed/24376764" } ] }, { "title": "Brain interleukin-1beta and the intrinsic receptor antagonist control peripheral Toll-like receptor 3-mediated suppression of spontaneous activity in rats.", "journal": "PloS one", "date": "2014", "authors": "Yamato M, Tamura Y, Eguchi A, Kume S, Miyashige Y, Nakano M, Watanabe Y, Kataoka Y", "evidence": [ { "database": "RefSeq", "id": "NP_071530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071530" } ], "reference": [ { "type": "PubMed", "id": "24621600", "url": "https://glygen.org/publication/PubMed/24621600" } ] }, { "title": "G-protein-coupled estrogen receptor activation upregulates interleukin-1 receptor antagonist in the hippocampus after global cerebral ischemia: implications for neuronal self-defense.", "journal": "Journal of neuroinflammation", "date": "2020", "authors": "Bai N, Zhang Q, Zhang W, Liu B, Yang F, Brann D, Wang R", "evidence": [ { "database": "RefSeq", "id": "NP_071530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071530" } ], "reference": [ { "type": "PubMed", "id": "32007102", "url": "https://glygen.org/publication/PubMed/32007102" } ] } ], "pathway": [ { "id": "rno:60582", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:60582", "resource": "KEGG Pathway" }, { "id": "R-RNO-9020702", "name": "Interleukin-1 signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-9020702", "resource": "Reactome", "description": "Interleukin-1 signaling" } ], "orthologs": [ { "uniprot_canonical_ac": "P18510-1", "protein_name": "Interleukin-1 receptor antagonist protein", "gene_name": "IL1RN", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MEICRGLRSHLITLLLFLFHSETICRPSGRKSSKMQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLSENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVSLTNMPDEGVMVTKFYFQEDE", "length": 177 }, "evidence": [ { "id": "45236258", "url": "http://www.informatics.jax.org/homology/45236258", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "P25085-1", "protein_name": "Interleukin-1 receptor antagonist protein", "gene_name": "Il1rn", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MEICWGPYSHLISLLLILLFHSEAACRPSGKRPCKMQAFRIWDTNQKTFYLRNNQLIAGYLQGPNIKLEEKIDMVPIDLHSVFLGIHGGKLCLSCAKSGDDIKLQLEEVNITDLSKNKEEDKRFTFIRSEKGPTTSFESAACPGWFLCTTLEADRPVSLTNTPEEPLIVTKFYFQEDQ", "length": 178 }, "evidence": [ { "id": "45236258", "url": "http://www.informatics.jax.org/homology/45236258", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 7, "go_terms": [ { "name": "interleukin-1 receptor antagonist activity", "id": "GO:0005152", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005152", "evidence": [ { "database": "UniProtKB", "id": "P25086", "url": "https://www.uniprot.org/uniprot/P25086" } ], "pmid": "" }, { "name": "interleukin-1, type I receptor binding", "id": "GO:0005150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005150", "evidence": [ { "database": "UniProtKB", "id": "P25086", "url": "https://www.uniprot.org/uniprot/P25086" } ], "pmid": "" }, { "name": "interleukin-1 type I receptor antagonist activity", "id": "GO:0045352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045352", "evidence": [ { "database": "UniProtKB", "id": "P25086", "url": "https://www.uniprot.org/uniprot/P25086" } ], "pmid": "" }, { "name": "interleukin-1 type II receptor antagonist activity", "id": "GO:0045353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045353", "evidence": [ { "database": "UniProtKB", "id": "P25086", "url": "https://www.uniprot.org/uniprot/P25086" } ], "pmid": "" }, { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "P25086", "url": "https://www.uniprot.org/uniprot/P25086" } ], "pmid": "" }, { "name": "interleukin-1 receptor binding", "id": "GO:0005149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005149", "evidence": [ { "database": "UniProtKB", "id": "P25086", "url": "https://www.uniprot.org/uniprot/P25086" } ], "pmid": "" }, { "name": "interleukin-1, type II receptor binding", "id": "GO:0005151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005151", "evidence": [ { "database": "UniProtKB", "id": "P25086", "url": "https://www.uniprot.org/uniprot/P25086" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 28, "go_terms": [ { "name": "fever generation", "id": "GO:0001660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001660", "evidence": [ { "database": "UniProtKB", "id": "P25086", "url": "https://www.uniprot.org/uniprot/P25086" } ], "pmid": "" }, { "name": "negative regulation of interleukin-1-mediated signaling pathway", "id": "GO:2000660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000660", "evidence": [ { "database": "UniProtKB", "id": "P25086", "url": "https://www.uniprot.org/uniprot/P25086" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "P25086", "url": "https://www.uniprot.org/uniprot/P25086" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "P25086", "url": "https://www.uniprot.org/uniprot/P25086" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P25086", "url": "https://www.uniprot.org/uniprot/P25086" } ], "pmid": "" }, { "name": "response to starvation", "id": "GO:0042594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042594", "evidence": [ { "database": "UniProtKB", "id": "P25086", "url": "https://www.uniprot.org/uniprot/P25086" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P25086", "url": 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