{ "uniprot_canonical_ac": "A1Z6I3-1", "uniprot_ac": "A1Z6I3", "uniprot_id": "A1Z6I3_DROME", "mass": { "chemical_mass": 234758.0, "monoisotopic_mass": 234758.0 }, "refseq": { "ac": "NP_610188", "name": "uncharacterized protein", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_610188" }, "gene_names": [ { "name": "Dmel\\CG43366", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A1Z6I3", "id": "A1Z6I3" }, { "name": "CG12551; CG14470; Dmel\\CG43366", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_610188", "id": "NP_610188" }, { "name": "CG12551", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A1Z6I3", "id": "A1Z6I3" }, { "name": "CG14470", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A1Z6I3", "id": "A1Z6I3" }, { "name": "CG43366", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_610188", "id": "NP_610188" }, { "name": "CG43366", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A1Z6I3", "id": "A1Z6I3" }, { "name": "Dmel_CG43366", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A1Z6I3", "id": "A1Z6I3" } ], "protein_names": [ { "name": "Serpin domain-containing protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A1Z6I3" }, { "name": "CG43366-PB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_610188", "id": "NP_610188" }, { "name": "uncharacterized protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_610188", "id": "NP_610188" } ], "function": [], "disease": [ { "disease_id": "DOID:0050851", "recommended_name": { "id": "DOID:0050851", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050851", "name": "glomerulosclerosis", "description": "A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney." }, "synonyms": [], "evidence": [ { "id": "0050851", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050851" } ] }, { "disease_id": "DOID:0050855", "recommended_name": { "id": "DOID:0050855", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050855", "name": "renal fibrosis", "description": "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function." }, "synonyms": [], "evidence": [ { "id": "0050855", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050855" } ] }, { "disease_id": "DOID:0080547", "recommended_name": { "id": "DOID:0080547", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis." }, "synonyms": [ { "id": "DOID:0080547", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080547", "name": "non-alcoholic steatohepatitis", "description": "" }, { "id": "DOID:0080547", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080547", "name": "NASH", "description": "" }, { "id": "DOID:0080547", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080547", "name": "MASH", "description": "" }, { "id": "DOID:0080547", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080547", "name": "nonalcoholic steatohepatitis", "description": "" } ], "evidence": [ { "id": "0080547", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ] }, { "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:0110350", "recommended_name": { "id": "DOID:0110350", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110350", "name": "osteogenesis imperfecta type 6", "description": "An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINF1 gene on chromosome 17p13.3." }, "synonyms": [ { "id": "DOID:0110350", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110350", "name": "OI6", "description": "" }, { "id": "DOID:0110350", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110350", "name": "osteogenesis imperfecta type VI", "description": "" }, { "id": "MONDO:0013515", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013515", "name": "osteogenesis imperfecta type 6", "description": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINF1 gene." }, { "id": "MONDO:0013515", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013515", "name": "OI6", "description": "" }, { "id": "MONDO:0013515", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013515", "name": "SERPINF1 osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0013515", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013515", "name": "osteogenesis imperfecta caused by mutation in SERPINF1", "description": "" }, { "id": "MONDO:0013515", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013515", "name": "osteogenesis imperfecta type VI", "description": "" }, { "id": "MONDO:0013515", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013515", "name": "OI type 6", "description": "" }, { "id": "MONDO:0013515", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013515", "name": "OI type VI", "description": "" }, { "id": "MONDO:0013515", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013515", "name": "SERPINFI- related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0013515", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013515", "name": "osteogenesis imperfecta type", "description": "" }, { "id": "MONDO:0013515", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013515", "name": "osteogenesis imperfecta, type 6", "description": "" }, { "id": "MONDO:0013515", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013515", "name": "osteogenesis imperfecta, type VI", "description": "" }, { "id": "MIM:613982", "resource": "MIM", "url": "https://www.omim.org/entry/613982", "name": "Osteogenesis imperfecta 6", "description": "Osteogenesis imperfecta 6" } ], "evidence": [ { "id": "0110350", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110350" } ] }, { "disease_id": "DOID:10584", "recommended_name": { "id": "DOID:10584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss." }, "synonyms": [ { "id": "DOID:10584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10584", "name": "pericentral pigmentary retinopathy", "description": "" }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "retinitis pigmentosa", "description": "Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "retinitis pigmentosa", "description": "" }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "pericentral pigmentary retinopathy", "description": "" }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "Rod-cone dystrophy", "description": "" }, { "id": "MIM:268000", "resource": "MIM", "url": "https://www.omim.org/entry/268000", "name": "Retinitis pigmentosa", "description": "Retinitis pigmentosa" } ], "evidence": [ { "id": "10584", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10584" } ] }, { "disease_id": "DOID:10652", "recommended_name": { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid." }, "synonyms": [ { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimer disease", "description": "" }, { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimers dementia", "description": "" } ], "evidence": [ { "id": "10652", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ] }, { "disease_id": "DOID:1074", "recommended_name": { "id": "DOID:1074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1074", "name": "kidney failure", "description": "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood." }, "synonyms": [ { "id": "DOID:1074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1074", "name": "renal failure", "description": "" } ], "evidence": [ { "id": "1074", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1074" } ] }, { "disease_id": "DOID:10762", "recommended_name": { "id": "DOID:10762", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10762", "name": "portal hypertension", "description": "" }, "synonyms": [], "evidence": [ { "id": "10762", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ] }, { "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:11168", "recommended_name": { "id": "DOID:11168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts." }, "synonyms": [ { "id": "DOID:11168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11168", "name": "Anogenital warts", "description": "" }, { "id": "DOID:11168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11168", "name": "Genital warts", "description": "" }, { "id": "DOID:11168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11168", "name": "Anogenital Human papilloma Virus Infectious Disease", "description": "" }, { "id": "DOID:11168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11168", "name": "genital wart virus infectious disease", "description": "" }, { "id": "DOID:11168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11168", "name": "venereal wart", "description": "" } ], "evidence": [ { "id": "11168", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ] }, { "disease_id": "DOID:11247", "recommended_name": { "id": "DOID:11247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11247", "name": "disseminated intravascular coagulation", "description": "" }, "synonyms": [ { "id": "DOID:11247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11247", "name": "DIC", "description": "" }, { "id": "DOID:11247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11247", "name": "Defibrination syndrome", "description": "" }, { "id": "DOID:11247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11247", "name": "Diffuse or disseminated intravascular coagulation", "description": "" } ], "evidence": [ { "id": "11247", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11247" } ] }, { "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: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:12986", "recommended_name": { "id": "DOID:12986", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12986", "name": "leukostasis", "description": "" }, "synonyms": [], "evidence": [ { "id": "12986", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12986" } ] }, { "disease_id": "DOID:13025", "recommended_name": { "id": "DOID:13025", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13025", "name": "retinopathy of prematurity", "description": "" }, "synonyms": [ { "id": "DOID:13025", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13025", "name": "Retrolental fibroplasia", "description": "" }, { "id": "DOID:13025", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13025", "name": "premature retinopathy", "description": "" } ], "evidence": [ { "id": "13025", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13025" } ] }, { "disease_id": "DOID:1312", "recommended_name": { "id": "DOID:1312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1312", "name": "focal segmental glomerulosclerosis", "description": "" }, "synonyms": [ { "id": "DOID:1312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1312", "name": "FGS", "description": "" }, { "id": "DOID:1312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1312", "name": "FSGS", "description": "" }, { "id": "DOID:1312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1312", "name": "focal glomerular sclerosis", "description": "" }, { "id": "DOID:1312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1312", "name": "focal glomerulosclerosis", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "focal segmental glomerulosclerosis 1", "description": "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene." }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "ACTN4 focal segmental glomerulosclerosis", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "FSGS1", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "focal segmental glomerulosclerosis 1", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "focal segmental glomerulosclerosis caused by mutation in ACTN4", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "focal segmental glomerulosclerosis type 1", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis", "description": "" }, { "id": "MONDO:0011303", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011303", "name": "glomerulosclerosis, focal segmental, 1", "description": "" }, { "id": "MIM:603278", "resource": "MIM", "url": "https://www.omim.org/entry/603278", "name": "Focal segmental glomerulosclerosis 1", "description": "Focal segmental glomerulosclerosis 1" } ], "evidence": [ { "id": "1312", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1312" } ] }, { "disease_id": "DOID:13141", "recommended_name": { "id": "DOID:13141", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid." }, "synonyms": [], "evidence": [ { "id": "13141", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ] }, { "disease_id": "DOID:13207", "recommended_name": { "id": "DOID:13207", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13207", "name": "proliferative diabetic retinopathy", "description": "" }, "synonyms": [ { "id": "DOID:13207", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13207", "name": "PDR", "description": "" } ], "evidence": [ { "id": "13207", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13207" } ] }, { "disease_id": "DOID:13514", "recommended_name": { "id": "DOID:13514", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13514", "name": "venous tributary occlusion of retina", "description": "" }, "synonyms": [ { "id": "DOID:13514", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13514", "name": "Venous tributary (branch) occlusion of retina", "description": "" }, { "id": "DOID:13514", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13514", "name": "Venous tributary branch occlusion of retina", "description": "" } ], "evidence": [ { "id": "13514", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13514" } ] }, { "disease_id": "DOID:14018", "recommended_name": { "id": "DOID:14018", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14018", "name": "alcoholic liver cirrhosis", "description": "" }, "synonyms": [ { "id": "DOID:14018", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14018", "name": "Alcoholic Cirrhosis", "description": "" }, { "id": "DOID:14018", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14018", "name": "Alcoholic cirrhosis of liver", "description": "" }, { "id": "DOID:14018", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14018", "name": "Laennec's cirrhosis", "description": "" }, { "id": "DOID:14018", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14018", "name": "Laennec's cirrhosis, alcoholic", "description": "" }, { "id": "DOID:14018", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14018", "name": "Portal cirrhosis", "description": "" } ], "evidence": [ { "id": "14018", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ] }, { "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:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "evidence": [ { "id": "14330", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] }, { "disease_id": "DOID:1727", "recommended_name": { "id": "DOID:1727", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1727", "name": "retinal vein occlusion", "description": "" }, "synonyms": [ { "id": "DOID:1727", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1727", "name": "Occlusion, of retinal vein", "description": "" } ], "evidence": [ { "id": "1727", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1727" } ] }, { "disease_id": "DOID:2154", "recommended_name": { "id": "DOID:2154", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically located_in children." }, "synonyms": [ { "id": "DOID:2154", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2154", "name": "adult nephroblastoma", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008679", "name": "Wilms tumor 1", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008679", "name": "Wilms' tumor", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008679", "name": "Wilms' tumour", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008679", "name": "renal Wilms tumor", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008679", "name": "renal Wilms tumour", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008679", "name": "Wilms tumor 1", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008679", "name": "Wilms tumor type 1", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008679", "name": "Wilms tumor, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008679", "name": "Wilms tumor, somatic", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008679", "name": "Wilms tumor, type 1, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008679", "name": "Wilms tumour type 1", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008679", "name": "WT1", "description": "" }, { "id": "MONDO:0008679", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008679", "name": "nephroblastoma", "description": "" }, { "id": "MIM:194070", "resource": "MIM", "url": "https://www.omim.org/entry/194070", "name": "Wilms tumor 1", "description": "Wilms tumor 1" } ], "evidence": [ { "id": "2154", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ] }, { "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:2316", "recommended_name": { "id": "DOID:2316", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand." }, "synonyms": [ { "id": "DOID:2316", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2316", "name": "Ischaemic encephalopathy", "description": "" }, { "id": "DOID:2316", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2316", "name": "Ischemic encephalopathy", "description": "" }, { "id": "DOID:2316", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2316", "name": "cerebral ischemia", "description": "" } ], "evidence": [ { "id": "2316", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ] }, { "disease_id": "DOID:2450", "recommended_name": { "id": "DOID:2450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2450", "name": "central retinal vein occlusion", "description": "" }, "synonyms": [], "evidence": [ { "id": "2450", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2450" } ] }, { "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:289", "recommended_name": { "id": "DOID:289", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body." }, "synonyms": [], "evidence": [ { "id": "289", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:289" } ] }, { "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:332", "recommended_name": { "id": "DOID:332", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing." }, "synonyms": [ { "id": "DOID:332", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:332", "name": "ALS", "description": "" }, { "id": "DOID:332", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:332", "name": "Lou Gehrig's disease", "description": "" }, { "id": "DOID:332", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:332", "name": "motor neuron disease, bulbar", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis type 1", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "ALS1", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis 1", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis type 1", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "FALS", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis 1, autosomal dominant", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis 1, autosomal dominant amyotrophic lateral sclerosis 1, autosomal recessive, included", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis 1, autosomal recessive", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis 1, familial", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis, autosomal dominant", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis, familial", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis, sporadic", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis, sporadic, included", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis, susceptibility to", "description": "" }, { "id": "MIM:105400", "resource": "MIM", "url": "https://www.omim.org/entry/105400", "name": "Amyotrophic lateral sclerosis 1", "description": "Amyotrophic lateral sclerosis 1" } ], "evidence": [ { "id": "332", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:332" } ] }, { "disease_id": "DOID:3347", "recommended_name": { "id": "DOID:3347", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3347", "name": "osteosarcoma", "description": "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin." }, "synonyms": [ { "id": "DOID:3347", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3347", "name": "Osteogenic sarcoma", "description": "" }, { "id": "DOID:3347", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3347", "name": "Skeletal sarcoma", "description": "" }, { "id": "DOID:3347", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3347", "name": "bone tissue neoplasm", "description": "" }, { "id": "DOID:3347", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3347", "name": "osteoid sarcoma", "description": "" }, { "id": "MONDO:0002629", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002629", "name": "bone osteosarcoma", "description": "A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs." }, { "id": "MONDO:0002629", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002629", "name": "bone osteosarcoma", "description": "" }, { "id": "MONDO:0002629", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002629", "name": "osteosarcoma of bone", "description": "" }, { "id": "MONDO:0002629", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002629", "name": "osteosarcoma, somatic", "description": "" }, { "id": "MONDO:0002629", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002629", "name": "osteosarcoma, somatic mutation", "description": "" }, { "id": "MONDO:0002629", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002629", "name": "primary osteosarcoma of bone", "description": "" }, { "id": "MIM:259500", "resource": "MIM", "url": "https://www.omim.org/entry/259500", "name": "Osteogenic sarcoma", "description": "Osteogenic sarcoma" } ], "evidence": [ { "id": "3347", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3347" } ] }, { "disease_id": "DOID: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:3526", "recommended_name": { "id": "DOID:3526", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain." }, "synonyms": [ { "id": "DOID:3526", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3526", "name": "CVA - Cerebral infarction", "description": "" }, { "id": "DOID:3526", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3526", "name": "Cerebral infarct", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "obsolete susceptibility to ischemic stroke", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "cerebral infarction, susceptibility to", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "ischemic stroke, susceptibility to", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "stroke, ischemic, susceptibility to", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "stroke, susceptibility to", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "cerebral infarction", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "cerebrovascular accident", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "stroke, ischemic", "description": "" }, { "id": "MIM:601367", "resource": "MIM", "url": "https://www.omim.org/entry/601367", "name": "Ischemic stroke", "description": "Ischemic stroke" } ], "evidence": [ { "id": "3526", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ] }, { "disease_id": "DOID:3627", "recommended_name": { "id": "DOID:3627", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3627", "name": "aortic aneurysm", "description": "An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size." }, "synonyms": [ { "id": "DOID:3627", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3627", "name": "ruptured aortic aneurysm", "description": "" } ], "evidence": [ { "id": "3627", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3627" } ] }, { "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: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:4448", "recommended_name": { "id": "DOID:4448", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss." }, "synonyms": [ { "id": "DOID:4448", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4448", "name": "Macular degeneration of retina", "description": "" } ], "evidence": [ { "id": "4448", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ] }, { "disease_id": "DOID:4449", "recommended_name": { "id": "DOID:4449", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4449", "name": "macular retinal edema", "description": "" }, "synonyms": [ { "id": "DOID:4449", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4449", "name": "macular edema", "description": "" }, { "id": "DOID:4449", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4449", "name": "macular oedema", "description": "" }, { "id": "DOID:4449", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4449", "name": "macular retinal oedema", "description": "" } ], "evidence": [ { "id": "4449", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4449" } ] }, { "disease_id": "DOID:4724", "recommended_name": { "id": "DOID:4724", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4724", "name": "brain edema", "description": "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma." }, "synonyms": [ { "id": "DOID:4724", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4724", "name": "intracranial swelling", "description": "" }, { "id": "DOID:4724", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4724", "name": "wet brain", "description": "" } ], "evidence": [ { "id": "4724", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4724" } ] }, { "disease_id": "DOID:5052", "recommended_name": { "id": "DOID:5052", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5052", "name": "melioidosis", "description": "A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain." }, "synonyms": [ { "id": "DOID:5052", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5052", "name": "Nightcliff gardener's disease", "description": "" }, { "id": "DOID:5052", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5052", "name": "Pseudoglanders", "description": "" }, { "id": "DOID:5052", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5052", "name": "Whitmore's disease", "description": "" }, { "id": "DOID:5052", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5052", "name": "acute and fulminating melioidosis", "description": "" }, { "id": "DOID:5052", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5052", "name": "subacute and chronic melioidosis", "description": "" } ], "evidence": [ { "id": "5052", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5052" } ] }, { "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:5425", "recommended_name": { "id": "DOID:5425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5425", "name": "ovarian hyperstimulation syndrome", "description": "An ovarian disease that is characterized by cystic enlargement of the ovaries and a fluid shift from the intravascular to the third space and has_symptom abdominal pain, has_symptom nausea and has_symptom vomiting. This disease is an iatrogenic complication of assisted reproduction technology." }, "synonyms": [ { "id": "DOID:5425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5425", "name": "secondary Meig's syndrome", "description": "" }, { "id": "MONDO:0011972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011972", "name": "ovarian hyperstimulation syndrome", "description": "A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries." }, { "id": "MONDO:0011972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011972", "name": "OHSS", "description": "" }, { "id": "MONDO:0011972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011972", "name": "ovarian hyperstimulation syndrome", "description": "" }, { "id": "MONDO:0011972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011972", "name": "secondary Meig's syndrome", "description": "" }, { "id": "MONDO:0011972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011972", "name": "ovarian hyperstimulation syndrome, familial gestational spontaneous", "description": "" }, { "id": "MIM:608115", "resource": "MIM", "url": "https://www.omim.org/entry/608115", "name": "Ovarian hyperstimulation syndrome", "description": "Ovarian hyperstimulation syndrome" } ], "evidence": [ { "id": "5425", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5425" } ] }, { "disease_id": "DOID:5844", "recommended_name": { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia." }, "synonyms": [ { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "Myocardial infarct", "description": "" }, { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "heart attack", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "Mci2", "description": "" } ], "evidence": [ { "id": "5844", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ] }, { "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:684", "recommended_name": { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver." }, "synonyms": [ { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "Hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MIM:114550", "resource": "MIM", "url": "https://www.omim.org/entry/114550", "name": "Hepatocellular carcinoma", "description": "Hepatocellular carcinoma" } ], "evidence": [ { "id": "684", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:684" } ] }, { "disease_id": "DOID:74", "recommended_name": { "id": "DOID:74", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:74", "name": "hematopoietic system disease", "description": "A disease of anatomical entity that has_material_basis_in hematopoietic cells." }, "synonyms": [ { "id": "DOID:74", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:74", "name": "Blood disease", "description": "" }, { "id": "DOID:74", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:74", "name": "Blood dyscrasia", "description": "" }, { "id": "DOID:74", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:74", "name": "DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS", "description": "" }, { "id": "DOID:74", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:74", "name": "Hematological disease", "description": "" }, { "id": "DOID:74", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:74", "name": "blood disorder", "description": "" }, { "id": "DOID:74", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:74", "name": "disease of haematopoietic system", "description": "" }, { "id": "DOID:74", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:74", "name": "disease of hematopoietic system", "description": "" }, { "id": "DOID:74", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:74", "name": "haematopoietic system disease", "description": "" } ], "evidence": [ { "id": "74", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:74" } ] }, { "disease_id": "DOID:767", "recommended_name": { "id": "DOID:767", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:767", "name": "muscular atrophy", "description": "" }, "synonyms": [ { "id": "DOID:767", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:767", "name": "Amyotrophia", "description": "" }, { "id": "DOID:767", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:767", "name": "Muscle wasting", "description": "" }, { "id": "DOID:767", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:767", "name": "Wasting - muscle", "description": "" } ], "evidence": [ { "id": "767", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:767" } ] }, { "disease_id": "DOID:768", "recommended_name": { "id": "DOID:768", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:768", "name": "retinoblastoma", "description": "A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina." }, "synonyms": [ { "id": "DOID:768", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:768", "name": "RB", "description": "" }, { "id": "DOID:768", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:768", "name": "RB - Retinoblastoma", "description": "" }, { "id": "DOID:768", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:768", "name": "neuroblastoma of Retina", "description": "" }, { "id": "MONDO:0018160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018160", "name": "hereditary retinoblastoma", "description": "An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma." }, { "id": "MONDO:0018160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018160", "name": "RB1", "description": "" }, { "id": "MONDO:0018160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018160", "name": "familial retinoblastoma", "description": "" }, { "id": "MONDO:0018160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018160", "name": "hereditary retinoblastoma", "description": "" }, { "id": "MONDO:0018160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018160", "name": "retinoblastoma, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0018160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018160", "name": "retinoblastoma, trilateral, autosomal dominant, somatic mutation", "description": "" }, { "id": "MIM:180200", "resource": "MIM", "url": "https://www.omim.org/entry/180200", "name": "Childhood cancer retinoblastoma", "description": "Childhood cancer retinoblastoma" } ], "evidence": [ { "id": "768", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:768" } ] }, { "disease_id": "DOID:7693", "recommended_name": { "id": "DOID:7693", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta." }, "synonyms": [ { "id": "DOID:7693", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7693", "name": "AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1", "description": "" }, { "id": "MONDO:0012343", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012343", "name": "aortic aneurysm, familial abdominal, 2", "description": "" }, { "id": "MONDO:0012343", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012343", "name": "AAA2", "description": "" }, { "id": "MONDO:0012343", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012343", "name": "aortic aneurysm, familial abdominal 2", "description": "" }, { "id": "MONDO:0012343", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012343", "name": "aortic aneurysm, familial abdominal, 2", "description": "" }, { "id": "MONDO:0024521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024521", "name": "aortic aneurysm, familial abdominal, 1", "description": "" }, { "id": "MONDO:0024521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024521", "name": "AAA1", "description": "" }, { "id": "MONDO:0024521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024521", "name": "aortic aneurysm, familial abdominal 1", "description": "" }, { "id": "MONDO:0024521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024521", "name": "aortic aneurysm, familial abdominal, 1", "description": "" }, { "id": "MONDO:0024521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024521", "name": "abdominal aortic aneurysm", "description": "" }, { "id": "MONDO:0024521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024521", "name": "aneurysm, abdominal aortic", "description": "" }, { "id": "MONDO:0013716", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013716", "name": "aortic aneurysm, familial abdominal, 4", "description": "" }, { "id": "MONDO:0013716", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013716", "name": "AAA4", "description": "" }, { "id": "MONDO:0013716", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013716", "name": "aortic aneurysm, familial abdominal, 4", "description": "" }, { "id": "MONDO:0012751", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012751", "name": "aortic aneurysm, familial abdominal, 3", "description": "" }, { "id": "MONDO:0012751", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012751", "name": "AAA3", "description": "" }, { "id": "MONDO:0012751", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012751", "name": "aneurysm, familial abdominal 3", "description": "" }, { "id": "MONDO:0012751", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012751", "name": "aortic aneurysm, familial abdominal, 3", "description": "" } ], "evidence": [ { "id": "7693", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ] }, { "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:8432", "recommended_name": { "id": "DOID:8432", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8432", "name": "polycythemia", "description": "A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow." }, "synonyms": [ { "id": "DOID:8432", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8432", "name": "Erythrocythemia", "description": "" } ], "evidence": [ { "id": "8432", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8432" } ] }, { "disease_id": "DOID:8466", "recommended_name": { "id": "DOID:8466", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina." }, "synonyms": [ { "id": "DOID:8466", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8466", "name": "degeneration of retina", "description": "" } ], "evidence": [ { "id": "8466", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ] }, { "disease_id": "DOID:8544", "recommended_name": { "id": "DOID:8544", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8544", "name": "chronic fatigue syndrome", "description": "A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions." }, "synonyms": [ { "id": "DOID:8544", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8544", "name": "CFS", "description": "" }, { "id": "DOID:8544", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8544", "name": "Myalgic encephalitis", "description": "" }, { "id": "DOID:8544", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8544", "name": "Myalgic encephalomyelitis", "description": "" }, { "id": "DOID:8544", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8544", "name": "Postviral fatigue syndrome", "description": "" } ], "evidence": [ { "id": "8544", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8544" } ] }, { "disease_id": "DOID:8947", "recommended_name": { "id": "DOID:8947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8947", "name": "diabetic retinopathy", "description": "" }, "synonyms": [ { "id": "DOID:8947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8947", "name": "Retinal abnormality - diabetes-related", "description": "" } ], "evidence": [ { "id": "8947", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "evidence": [ { "id": "9256", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:9351", "recommended_name": { "id": "DOID:9351", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both." }, "synonyms": [ { "id": "DOID:9351", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9351", "name": "diabetes", "description": "" } ], "evidence": [ { "id": "9351", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ] }, { "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:9719", "recommended_name": { "id": "DOID:9719", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9719", "name": "neovascular inflammatory vitreoretinopathy", "description": "A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in the CAPN5 gene on chromosome 11q13.5." }, "synonyms": [ { "id": "DOID:9719", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9719", "name": "ADNIV", "description": "" }, { "id": "DOID:9719", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9719", "name": "Retinitis proliferans", "description": "" }, { "id": "DOID:9719", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9719", "name": "proliferative vitreoretinopathy", "description": "" }, { "id": "DOID:9719", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9719", "name": "autosomal dominant neovascular inflammatory vitreoretinopathy", "description": "" }, { "id": "MONDO:0100450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100450", "name": "CAPN5-related vitreoretinopathy", "description": "An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients." }, { "id": "MONDO:0100450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100450", "name": "proliferative vitreoretinopathy", "description": "" }, { "id": "MONDO:0100450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100450", "name": "ADNIV", "description": "" }, { "id": "MONDO:0100450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100450", "name": "CAPN5 vitreoretinopathy", "description": "" }, { "id": "MONDO:0100450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100450", "name": "VRNI", "description": "" }, { "id": "MONDO:0100450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100450", "name": "autosomal dominant neovascular inflammatory vitreoretinopathy", "description": "" }, { "id": "MONDO:0100450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100450", "name": "retinitis proliferans", "description": "" }, { "id": "MONDO:0100450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100450", "name": "vitreoretinopathy, neovascular inflammatory", "description": "" }, { "id": "MONDO:0100450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100450", "name": "vitreoretinopathy, neovascular inflammatory, autosomal dominant", "description": "" }, { "id": "MIM:193235", "resource": "MIM", "url": "https://www.omim.org/entry/193235", "name": "Vitreoretinopathy, neovascular inflammatory", "description": "Vitreoretinopathy, neovascular inflammatory" } ], "evidence": [ { "id": "9719", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9719" } ] }, { "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: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": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z6I3", "url": "https://www.uniprot.org/uniprot/A1Z6I3" } ], "common_name": "Fruit fly" } ], "gene": [ { "name": "Dmel\\CG43366", "url": "https://www.uniprot.org/uniprot/A1Z6I3", "locus": { "chromosome": "2R", "start_pos": 5931363, "end_pos": 5893895, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "FBgn0263109", "url": "https://www.ensembl.org/id/FBgn0263109" } ] } } ], "crossref": [ { "id": "FBgn0263109", "url": "https://bgee.org/?page=gene&gene_id=FBgn0263109", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "FBgn0263109", "url": "https://flybase.org/reports/FBgn0263109", "database": "FlyBase", "categories": [ "Organism-specific" ] }, { "id": "35519", "url": "https://www.ncbi.nlm.nih.gov/gene/35519", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR000215", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000215", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023795", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023795", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023796", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023796", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036186", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036186", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR042178", "url": "https://www.ebi.ac.uk/interpro/entry/IPR042178", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR042185", "url": "https://www.ebi.ac.uk/interpro/entry/IPR042185", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "dme:Dmel_CG43366", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG43366", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "DHHHVEM", "url": "https://omabrowser.org/oma/group/DHHHVEM/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3182479at2759", "url": "http://www.orthodb.org/?query=3182479at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11461", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11461", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11461:SF211", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11461:SF211", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00079", "url": "http://pfam.xfam.org/family/PF00079", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "R-DME-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-114608", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-DME-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-140837", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-DME-194002", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-194002", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-DME-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-204005", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-DME-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-381426", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-DME-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-5694530", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-DME-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-6798695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-DME-8957275", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-8957275", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-DME-9757110", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-9757110", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_610188", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_610188", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A1Z6I3", "url": "https://www.uniprot.org/uniprot/A1Z6I3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A1Z6I3-1", "url": "https://www.uniprot.org/uniprot/A1Z6I3-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRLPRTFPALWLWAVLPLATPGILGYPNTQSQPALVTYVTTSSSSSQRGHSASPHLQPAFVYESPLPEEEEGSKHSLATSTSSSTSDVRDEKTTESSKKVIGSSANPSVSVILDGNEPQFTDALGHKVPKPQPSLQVASPIDLLNPDRYEFYTFDDHGELVKRLMTMQEIQSIVANGDGEGPSIIHPAPLAESHPDKNVQDIVNSVQNVLNKEMASSSAKNSSGELLLPLLDTPDVSSSWSLILPAIFGNTGGDIFPQQRPQQIVMTAESELLETPNKTPTGTTMATKKPKPAKRKPGTKRKTTTTPSTTAVTPQVVQEELDPMESVYTGMQQYQQVAANMPHFELVHMQPIYQKQPSSTSERPETTTRRVFYNNQEIIHTPTSSSSAPSTTEVVLTHQLAKKPASVQRKPNQPHRVKKPNGNGTTQTTSQAGKQKIKRKTTTTSTTTTTTTTPAPEPETQPPTQEEPVPATTESTTTTTQAPASTTPKKKKRKPTRTPGTGSSGGSSKPSKPKRKPTSKPRPQIQEVSGSQIVVPQKPSRPQRPTSNPSITSTMPAQEVTTTTTTFKPVITSTEPQTTEPPAESTVTTTSEPEPTTTSSTQASTTTSTETYTTTSTEAPTTTVTAPTTTSIAPAKTTAIPPALHHQKLHNKPANRPLSQQHNHGLGRPVHYTTTESSKIVGEPQTETYGIVYVIHSSTTTHKPFYPLPSYNDDAVQNVSTLLTPPPVQHKPLKKTPLPSLSQLQQQLHLGSPSPAPQLSPDQILSMDQIVQSLTQDLSASDKGEEASGASPVKYDSAESKLEIEALANKKKVAVVSSTTPASTTTPSSSSITTTPSKPTKLSTSHKPLTSHYGGSTLATMLSEEDEDITEFTESSVVQQQPADTTISSLENENEDQTPVVVITARPQYFTVTRVPEPLQHIKTDHRQEETETTELPGLTQFLVTTQMSQVDDDVDESTDKSVVESVHENVSEASQSYPTDLEVKEEVPAAVVTTEQTTKLPVSETSTVAEMDSTEVTPLIADLVQQLNLEMLKPTDQISMANFQTQAATVASTLVDGSNTLVSDVPLNSNETKDELEFLISDVIQQITQGDQNKLPPNAQPADDSNRLTSFAQLNTSFLLQPNIEKTEVNQIQQTHGTTTAGPFKKESTYPEALPESPTHLETSTHRIPILSLSQIYAQQQQDEDEEQQVFANERIEVQSTMETIGQETVATTEEIYTETPSVETTDADSVESTTPIEPQPQDPTQQTTSSEEGSGSEEPTTTYSNIPESNTNRENEEEILQLLKNDTKEQKQTPNIDIQEKETEPEPSTSEEPGSTTQLSVVEEITLPTNIYQDAQEEEQSSTTEKHVYLEPQPQEAQIVVEVTDTNAAQLQPEYQYPPSGEREEDKSPVTQIPGDMSLASSDSDMSLSSEQVTEKIELSTVKSQQLNDESMEEISDELTATISEEQDAESAEPVTSTQEIQLDNEDPYVKLGETTATVVRPLNPNSEGVGENKSATESDEDNYNYKVKLPLSNYGNPPVDQADEEDEDDQAAYHIPPMLASSTTVTTSSTKITITEAPARSTSTTSVPPPTTKRLSTLKPVSYYVQPSLMGGYNQLDMQPPKVLPYNANKADPVQLQVPIHSQSMLNQQRPSQRPPLLINLMASSTQSTRPPVKLDPSPESSQGLEASTAMMDEDLQSFARLCNELAFSYWRAITSEKISSARSLVISPFALTSMLSMVFLGARGSTSGEMNEILKLDDMVTFNPHLIFKNITNSVEQASDSDIATAAFVREIFSDRANGKILPFFKEKTQQLYAGHVEEVNFHVVNDIVRRRTNLLVKRHTMGKVLEYLRTNSVWVNGPLATISANLFQTDCSHGSTTDRDGEMFFQVHPTVRQRRLVPIPAVLYRSGFLAGYEPSLDATVVSFGRVQNTVSTVYVMPGHQSSISPMDNLDRLERSLVETAFSDKQAWRRLLTSLMDRPGMEVQLPRFSHRSFVNASLGLQKMGLRGLFKSDFADLRGLTGAGNRDIFLSDMIQINTFSTCGEEKISEHHHVEMYPAPPLRKRNKDVDATDDDAFDSSERVVDFGSLVQESALGRGFYDDLLDPKYLELPLPLRPRQARVPDAPRLRFDKPFLYFVRHNPTGMILFMGRFNPRLLP", "length": 2140, "header": "tr|A1Z6I3-1|A1Z6I3_DROME Isoform 1 of Serpin domain-containing protein OS=Drosophila melanogaster OX=7227 GN=Dmel\\CG43366 PE=3 SV=2 CANONICAL=A1Z6I3-1" }, "isoforms": [ { "isoform_ac": "A1Z6I3-1", "url": "", "sequence": { "sequence": "MRLPRTFPALWLWAVLPLATPGILGYPNTQSQPALVTYVTTSSSSSQRGHSASPHLQPAFVYESPLPEEEEGSKHSLATSTSSSTSDVRDEKTTESSKKVIGSSANPSVSVILDGNEPQFTDALGHKVPKPQPSLQVASPIDLLNPDRYEFYTFDDHGELVKRLMTMQEIQSIVANGDGEGPSIIHPAPLAESHPDKNVQDIVNSVQNVLNKEMASSSAKNSSGELLLPLLDTPDVSSSWSLILPAIFGNTGGDIFPQQRPQQIVMTAESELLETPNKTPTGTTMATKKPKPAKRKPGTKRKTTTTPSTTAVTPQVVQEELDPMESVYTGMQQYQQVAANMPHFELVHMQPIYQKQPSSTSERPETTTRRVFYNNQEIIHTPTSSSSAPSTTEVVLTHQLAKKPASVQRKPNQPHRVKKPNGNGTTQTTSQAGKQKIKRKTTTTSTTTTTTTTPAPEPETQPPTQEEPVPATTESTTTTTQAPASTTPKKKKRKPTRTPGTGSSGGSSKPSKPKRKPTSKPRPQIQEVSGSQIVVPQKPSRPQRPTSNPSITSTMPAQEVTTTTTTFKPVITSTEPQTTEPPAESTVTTTSEPEPTTTSSTQASTTTSTETYTTTSTEAPTTTVTAPTTTSIAPAKTTAIPPALHHQKLHNKPANRPLSQQHNHGLGRPVHYTTTESSKIVGEPQTETYGIVYVIHSSTTTHKPFYPLPSYNDDAVQNVSTLLTPPPVQHKPLKKTPLPSLSQLQQQLHLGSPSPAPQLSPDQILSMDQIVQSLTQDLSASDKGEEASGASPVKYDSAESKLEIEALANKKKVAVVSSTTPASTTTPSSSSITTTPSKPTKLSTSHKPLTSHYGGSTLATMLSEEDEDITEFTESSVVQQQPADTTISSLENENEDQTPVVVITARPQYFTVTRVPEPLQHIKTDHRQEETETTELPGLTQFLVTTQMSQVDDDVDESTDKSVVESVHENVSEASQSYPTDLEVKEEVPAAVVTTEQTTKLPVSETSTVAEMDSTEVTPLIADLVQQLNLEMLKPTDQISMANFQTQAATVASTLVDGSNTLVSDVPLNSNETKDELEFLISDVIQQITQGDQNKLPPNAQPADDSNRLTSFAQLNTSFLLQPNIEKTEVNQIQQTHGTTTAGPFKKESTYPEALPESPTHLETSTHRIPILSLSQIYAQQQQDEDEEQQVFANERIEVQSTMETIGQETVATTEEIYTETPSVETTDADSVESTTPIEPQPQDPTQQTTSSEEGSGSEEPTTTYSNIPESNTNRENEEEILQLLKNDTKEQKQTPNIDIQEKETEPEPSTSEEPGSTTQLSVVEEITLPTNIYQDAQEEEQSSTTEKHVYLEPQPQEAQIVVEVTDTNAAQLQPEYQYPPSGEREEDKSPVTQIPGDMSLASSDSDMSLSSEQVTEKIELSTVKSQQLNDESMEEISDELTATISEEQDAESAEPVTSTQEIQLDNEDPYVKLGETTATVVRPLNPNSEGVGENKSATESDEDNYNYKVKLPLSNYGNPPVDQADEEDEDDQAAYHIPPMLASSTTVTTSSTKITITEAPARSTSTTSVPPPTTKRLSTLKPVSYYVQPSLMGGYNQLDMQPPKVLPYNANKADPVQLQVPIHSQSMLNQQRPSQRPPLLINLMASSTQSTRPPVKLDPSPESSQGLEASTAMMDEDLQSFARLCNELAFSYWRAITSEKISSARSLVISPFALTSMLSMVFLGARGSTSGEMNEILKLDDMVTFNPHLIFKNITNSVEQASDSDIATAAFVREIFSDRANGKILPFFKEKTQQLYAGHVEEVNFHVVNDIVRRRTNLLVKRHTMGKVLEYLRTNSVWVNGPLATISANLFQTDCSHGSTTDRDGEMFFQVHPTVRQRRLVPIPAVLYRSGFLAGYEPSLDATVVSFGRVQNTVSTVYVMPGHQSSISPMDNLDRLERSLVETAFSDKQAWRRLLTSLMDRPGMEVQLPRFSHRSFVNASLGLQKMGLRGLFKSDFADLRGLTGAGNRDIFLSDMIQINTFSTCGEEKISEHHHVEMYPAPPLRKRNKDVDATDDDAFDSSERVVDFGSLVQESALGRGFYDDLLDPKYLELPLPLRPRQARVPDAPRLRFDKPFLYFVRHNPTGMILFMGRFNPRLLP", "length": 2140, "header": "tr|A1Z6I3-1|A1Z6I3_DROME Isoform 1 of Serpin domain-containing protein OS=Drosophila melanogaster OX=7227 GN=Dmel\\CG43366 PE=3 SV=2 CANONICAL=A1Z6I3-1" }, "locus": { "chromosome": "2R", "start_pos": 5930784, "end_pos": 5920933, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0307307", "url": "https://www.ensembl.org/id/FBtr0307307" }, { "database": "Ensembl Peptide", "id": "FBpp0298308", "url": "https://www.ensembl.org/id/FBpp0298308" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "The genome sequence of Drosophila melanogaster.", "journal": "Science", "date": "2000", "authors": "Adams MD, Celniker SE, Holt RA, Evans CA, Gocayne JD, Amanatides PG, Scherer SE, Li PW, Hoskins RA, Galle RF, George RA, Lewis SE, Richards S, Ashburner M, Henderson SN, Sutton GG, Wortman JR, Yandell MD, Zhang Q, Chen LX, Brandon RC, Rogers YH, Blazej RG, Champe M, Pfeiffer BD, Wan KH, Doyle C, Baxter EG, Helt G, Nelson CR, Gabor GL, Abril JF, Agbayani A, An HJ, Andrews-Pfannkoch C, Baldwin D, Ballew RM, Basu A, Baxendale J, Bayraktaroglu L, Beasley EM, Beeson KY, Benos PV, Berman BP, Bhandari D, Bolshakov S, Borkova D, Botchan MR, Bouck J, Brokstein P, Brottier P, Burtis KC, Busam DA, Butler H, Cadieu E, Center A, Chandra I, Cherry JM, Cawley S, Dahlke C, Davenport LB, Davies P, de Pablos B, Delcher A, Deng Z, Mays AD, Dew I, Dietz SM, Dodson K, Doup LE, Downes M, Dugan-Rocha S, Dunkov BC, Dunn P, Durbin KJ, Evangelista CC, Ferraz C, Ferriera S, Fleischmann W, Fosler C, Gabrielian AE, Garg NS, Gelbart WM, Glasser K, Glodek A, Gong F, Gorrell JH, Gu Z, Guan P, Harris M, Harris NL, Harvey D, Heiman TJ, Hernandez JR, Houck J, Hostin D, Houston KA, Howland TJ, Wei MH, Ibegwam C, Jalali M, Kalush F, Karpen GH, Ke Z, Kennison JA, Ketchum KA, Kimmel BE, Kodira CD, Kraft C, Kravitz S, Kulp D, Lai Z, Lasko P, Lei Y, Levitsky AA, Li J, Li Z, Liang Y, Lin X, Liu X, Mattei B, McIntosh TC, McLeod MP, McPherson D, Merkulov G, Milshina NV, Mobarry C, Morris J, Moshrefi A, Mount SM, Moy M, Murphy B, Murphy L, Muzny DM, Nelson DL, Nelson DR, Nelson KA, Nixon K, Nusskern DR, Pacleb JM, Palazzolo M, Pittman GS, Pan S, Pollard J, Puri V, Reese MG, Reinert K, Remington K, Saunders RD, Scheeler F, Shen H, Shue BC, Siden-Kiamos I, Simpson M, Skupski MP, Smith T, Spier E, Spradling AC, Stapleton M, Strong R, Sun E, Svirskas R, Tector C, Turner R, Venter E, Wang AH, Wang X, Wang ZY, Wassarman DA, Weinstock GM, Weissenbach J, Williams SM, WoodageT, Worley KC, Wu D, Yang S, Yao QA, Ye J, Yeh RF, Zaveri JS, Zhan M, Zhang G, Zhao Q, Zheng L, Zheng XH, Zhong FN, Zhong W, Zhou X, Zhu S, Zhu X, Smith HO, Gibbs RA, Myers EW, Rubin GM, Venter JC", "evidence": [ { "database": "UniProtKB", "id": "A1Z6I3", "url": "https://www.uniprot.org/uniprot/A1Z6I3" } ], "reference": [ { "type": "PubMed", "id": "10731132", "url": "https://glygen.org/publication/PubMed/10731132" } ] }, { "title": "Finishing a whole-genome shotgun: release 3 of the Drosophila melanogaster euchromatic genome sequence.", "journal": "Genome Biol.", "date": "2002", "authors": "Celniker SE, Wheeler DA, Kronmiller B, Carlson JW, Halpern A, Patel S, Adams M, Champe M, Dugan SP, Frise E, Hodgson A, George RA, Hoskins RA, Laverty T, Muzny DM, Nelson CR, Pacleb JM, Park S, Pfeiffer BD, Richards S, Sodergren EJ, Svirskas R, Tabor PE, Wan K, Stapleton M, Sutton GG, Venter C, Weinstock G, Scherer SE, Myers EW, Gibbs RA, Rubin GM", "evidence": [ { "database": "UniProtKB", "id": "A1Z6I3", "url": "https://www.uniprot.org/uniprot/A1Z6I3" } ], "reference": [ { "type": "PubMed", "id": "12537568", "url": "https://glygen.org/publication/PubMed/12537568" } ] }, { "title": "Annotation of the Drosophila melanogaster euchromatic genome: a systematic review.", "journal": "Genome Biol.", "date": "2002", "authors": "Misra S, Crosby MA, Mungall CJ, Matthews BB, Campbell KS, Hradecky P, Huang Y, Kaminker JS, Millburn GH, Prochnik SE, Smith CD, Tupy JL, Whitfied EJ, Bayraktaroglu L, Berman BP, Bettencourt BR, Celniker SE, de Grey AD, Drysdale RA, Harris NL, Richter J, Russo S, Schroeder AJ, Shu SQ, Stapleton M, Yamada C, Ashburner M, Gelbart WM, Rubin GM, Lewis SE", "evidence": [ { "database": "UniProtKB", "id": "A1Z6I3", "url": "https://www.uniprot.org/uniprot/A1Z6I3" } ], "reference": [ { "type": "PubMed", "id": "12537572", "url": "https://glygen.org/publication/PubMed/12537572" } ] }, { "title": "The transposable elements of the Drosophila melanogaster euchromatin: a genomics perspective.", "journal": "Genome Biol.", "date": "2002", "authors": "Kaminker JS, Bergman CM, Kronmiller B, Carlson J, Svirskas R, Patel S, Frise E, Wheeler DA, Lewis SE, Rubin GM, Ashburner M, Celniker SE", "evidence": [ { "database": "UniProtKB", "id": "A1Z6I3", "url": "https://www.uniprot.org/uniprot/A1Z6I3" } ], "reference": [ { "type": "PubMed", "id": "12537573", "url": "https://glygen.org/publication/PubMed/12537573" } ] }, { "title": "Heterochromatic sequences in a Drosophila whole-genome shotgun assembly.", "journal": "Genome Biol.", "date": "2002", "authors": "Hoskins RA, Smith CD, Carlson JW, Carvalho AB, Halpern A, Kaminker JS, Kennedy C, Mungall CJ, Sullivan BA, Sutton GG, Yasuhara JC, Wakimoto BT, Myers EW, Celniker SE, Rubin GM, Karpen GH", "evidence": [ { "database": "UniProtKB", "id": "A1Z6I3", "url": "https://www.uniprot.org/uniprot/A1Z6I3" } ], "reference": [ { "type": "PubMed", "id": "12537574", "url": "https://glygen.org/publication/PubMed/12537574" } ] }, { "title": "Combined evidence annotation of transposable elements in genome sequences.", "journal": "PLoS Comput. Biol.", "date": "2005", "authors": "Quesneville H, Bergman CM, Andrieu O, Autard D, Nouaud D, Ashburner M, Anxolabehere D", "evidence": [ { "database": "UniProtKB", "id": "A1Z6I3", "url": "https://www.uniprot.org/uniprot/A1Z6I3" } ], "reference": [ { "type": "PubMed", "id": "16110336", "url": "https://glygen.org/publication/PubMed/16110336" } ] }, { "title": "The Release 5.1 annotation of Drosophila melanogaster heterochromatin.", "journal": "Science", "date": "2007", "authors": "Smith CD, Shu S, Mungall CJ, Karpen GH", "evidence": [ { "database": "UniProtKB", "id": "A1Z6I3", "url": "https://www.uniprot.org/uniprot/A1Z6I3" } ], "reference": [ { "type": "PubMed", "id": "17569856", "url": "https://glygen.org/publication/PubMed/17569856" } ] }, { "title": "Sequence finishing and mapping of Drosophila melanogaster heterochromatin.", "journal": "Science", "date": "2007", "authors": "Hoskins RA, Carlson JW, Kennedy C, Acevedo D, Evans-Holm M, Frise E, Wan KH, Park S, Mendez-Lago M, Rossi F, Villasante A, Dimitri P, Karpen GH, Celniker SE", "evidence": [ { "database": "UniProtKB", "id": "A1Z6I3", "url": "https://www.uniprot.org/uniprot/A1Z6I3" } ], "reference": [ { "type": "PubMed", "id": "17569867", "url": "https://glygen.org/publication/PubMed/17569867" } ] } ], "pathway": [ { "id": "dme:Dmel_CG43366", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG43366", "resource": "KEGG Pathway" }, { "id": "R-DME-114608", "name": "Platelet degranulation", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-114608", "resource": "Reactome", "description": "Platelet degranulation" }, { "id": "R-DME-140837", "name": "Intrinsic Pathway of Fibrin Clot Formation", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-140837", "resource": "Reactome", "description": "Intrinsic Pathway of Fibrin Clot Formation" }, { "id": "R-DME-194002", "name": "Glucocorticoid biosynthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-194002", "resource": "Reactome", "description": "Glucocorticoid biosynthesis" }, { "id": "R-DME-204005", "name": "COPII-mediated vesicle transport", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-204005", "resource": "Reactome", "description": "COPII-mediated vesicle transport" }, { "id": "R-DME-381426", "name": "Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-381426", "resource": "Reactome", "description": "Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)" }, { "id": "R-DME-5694530", "name": "Cargo concentration in the ER", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-5694530", "resource": "Reactome", "description": "Cargo concentration in the ER" }, { "id": "R-DME-6798695", "name": "Neutrophil degranulation", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-6798695", "resource": "Reactome", "description": "Neutrophil degranulation" }, { "id": "R-DME-8957275", "name": "Post-translational protein phosphorylation", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-8957275", "resource": "Reactome", "description": "Post-translational protein phosphorylation" }, { "id": "R-DME-9757110", "name": "Prednisone ADME", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-9757110", "resource": "Reactome", "description": "Prednisone ADME" } ], "orthologs": [], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "A1Z6I3", "url": "https://www.uniprot.org/uniprot/A1Z6I3" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "peptidase inhibitor activity", "id": "GO:0030414", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030414", "evidence": [ { "database": "UniProtKB", "id": "A1Z6I3", "url": "https://www.uniprot.org/uniprot/A1Z6I3" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1071, "end_pos": 1073, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1116, "end_pos": 1118, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1287, "end_pos": 1289, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1495, "end_pos": 1497, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1754, "end_pos": 1756, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1979, "end_pos": 1981, "annotation": "n_glycosylation_sequon" }, { "start_pos": 221, "end_pos": 223, "annotation": "n_glycosylation_sequon" }, { "start_pos": 277, "end_pos": 279, "annotation": "n_glycosylation_sequon" }, { "start_pos": 423, "end_pos": 425, "annotation": "n_glycosylation_sequon" }, { "start_pos": 718, "end_pos": 720, "annotation": "n_glycosylation_sequon" }, { "start_pos": 970, "end_pos": 972, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 8 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }