{ "uniprot_canonical_ac": "P02650-1", "uniprot_ac": "P02650", "uniprot_id": "APOE_RAT", "mass": { "chemical_mass": 35753.0, "monoisotopic_mass": 35753.0 }, "refseq": { "ac": "NP_001257610", "name": "apolipoprotein E precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257610" }, "gene_names": [ { "name": "Apoe", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P02650", "id": "P02650" }, { "name": "APOEA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257610", "id": "NP_001257610" }, { "name": "Apoe", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257610", "id": "NP_001257610" } ], "protein_names": [ { "name": "Apolipoprotein E", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P02650" }, { "name": "Apo-E", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02650" }, { "name": "apo-E", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257610", "id": "NP_001257610" }, { "name": "apolipoprotein E precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257610", "id": "NP_001257610" } ], "function": [ { "annotation": "APOE is an apolipoprotein, a protein associating with lipid particles, that mainly functions in lipoprotein-mediated lipid transport between organs via the plasma and interstitial fluids. APOE is a core component of plasma lipoproteins and is involved in their production, conversion and clearance. Apolipoproteins are amphipathic molecules that interact both with lipids of the lipoprotein particle core and the aqueous environment of the plasma. As such, APOE associates with chylomicrons, chylomicron remnants, very low density lipoproteins (VLDL) and intermediate density lipoproteins (IDL) but shows a preferential binding to high-density lipoproteins (HDL). It also binds a wide range of cellular receptors including the LDL receptor/LDLR and the very low-density lipoprotein receptor/VLDLR that mediate the cellular uptake of the APOE-containing lipoprotein particles. Finally, APOE has also a heparin-binding activity and binds heparan-sulfate proteoglycans on the surface of cells, a property that supports the capture and the receptor-mediated uptake of APOE-containing lipoproteins by cells.", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650#function" }, { "database": "UniProtKB", "id": "P02649", "url": "https://www.uniprot.org/uniprot/P02649#function" } ] }, { "annotation": "ApoE4 attenuates cortical neuronal activity in young behaving apoE4 rats.", "evidence": [ { "database": "RefSeq", "id": "NP_001257610", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257610" }, { "database": "PubMed", "id": "33932558", "url": "https://glygen.org/publication/PubMed/33932558" } ] }, { "annotation": "Apolipoprotein E4 Is Associated with Right Ventricular Dysfunction in Dilated Cardiomyopathy-An Animal and In-Human Comparative Study. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001257610", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257610" }, { "database": "PubMed", "id": "34575848", "url": "https://glygen.org/publication/PubMed/34575848" } ] }, { "annotation": "Astrocytic expression of the Alzheimer's disease risk allele, ApoEepsilon4, potentiates neuronal tau pathology in multiple preclinical models. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001257610", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257610" }, { "database": "PubMed", "id": "33564035", "url": "https://glygen.org/publication/PubMed/33564035" } ] }, { "annotation": "Cdc42 Facilitates Axonogenesis by Enhancing Microtubule Stabilization in Primary Hippocampal Neurons.", "evidence": [ { "database": "RefSeq", "id": "NP_001257610", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257610" }, { "database": "PubMed", "id": "33575839", "url": "https://glygen.org/publication/PubMed/33575839" } ] }, { "annotation": "Monobutyrin and monovalerin improve gut-blood-brain biomarkers and alter gut microbiota composition in high-fat fed apolipoprotein-E-knockout rats. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001257610", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257610" }, { "database": "PubMed", "id": "36104381", "url": "https://glygen.org/publication/PubMed/36104381" } ] } ], "disease": [ { "disease_id": "DOID:0050639", "recommended_name": { "id": "DOID:0050639", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050639", "name": "primary cutaneous amyloidosis", "description": "An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis." }, "synonyms": [ { "id": "DOID:0050639", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050639", "name": "PCA", "description": "" }, { "id": "DOID:0050639", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050639", "name": "familial primary localized cutaneous amyloidosis", "description": "" }, { "id": "MONDO:0024522", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024522", "name": "amyloidosis, primary localized cutaneous, 1", "description": "Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene." }, { "id": "MONDO:0024522", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024522", "name": "OSMR primary cutaneous amyloidosis", "description": "" }, { "id": "MONDO:0024522", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024522", "name": "PLCA1", "description": "" }, { "id": "MONDO:0024522", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024522", "name": "amyloidosis 9", "description": "" }, { "id": "MONDO:0024522", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024522", "name": "amyloidosis, primary cutaneous, 1", "description": "" }, { "id": "MONDO:0024522", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024522", "name": "amyloidosis, primary localised cutaneous, type 1", "description": "" }, { "id": "MONDO:0024522", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024522", "name": "amyloidosis, primary localized cutaneous, 1", "description": "" }, { "id": "MONDO:0024522", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024522", "name": "amyloidosis, primary localized cutaneous, type 1", "description": "" }, { "id": "MONDO:0024522", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024522", "name": "primary cutaneous amyloidosis caused by mutation in OSMR", "description": "" }, { "id": "MONDO:0024522", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024522", "name": "PCA", "description": "" }, { "id": "MONDO:0024522", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024522", "name": "amyloidosis, familial cutaneous lichen", "description": "" }, { "id": "MONDO:0024522", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024522", "name": "lichen amyloidosis, familial", "description": "" }, { "id": "MIM:105250", "resource": "MIM", "url": "https://www.omim.org/entry/105250", "name": "Amyloidosis, primary localized cutaneous, 1", "description": "Amyloidosis, primary localized cutaneous, 1" } ], "evidence": [ { "id": "0050639", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050639" } ] }, { "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:0080158", "recommended_name": { "id": "DOID:0080158", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080158", "name": "herpes simplex virus keratitis", "description": "A keratitis that has_material_basis_in herpes simplex type infection." }, "synonyms": [ { "id": "DOID:0080158", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080158", "name": "dendritic keratitis", "description": "" } ], "evidence": [ { "id": "0080158", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080158" } ] }, { "disease_id": "DOID:0080208", "recommended_name": { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five cardiometabolic risk factors (adjusted for age, sex and ethnicity), alcohol consumption below 140g/week (female) or 210g/week (male), and no other discernible cause. The five cardiometabolic risk factors are:(1) Body mass index 25 kg/m2 (adult), 23 kg/m2 (adult Asian), or 85th percentile (pediatric); waist circumference > 94 cm (adult male), 80 cm (adult female), or 95th percentile (pediatric); or ethnicity adjusted equivalents.(2) Fasting serum glucose 5.6 mmol/L, 2-hr post-load glucose levels 7.8 mmol/L, glycated hemoglobin (HbA1c) 5.7% (39 mmol/L), type 2 diabetes, treatment for type 2 diabetes, previously diagnosed or treated type 2 diabetes (pediatric only), or serum glucose 11.1 mmol/L (pediatric only).(3) Blood pressure lower of 130/85 mmHg or 95th percentile (age < 13 years), or 130/85 mmHg (age 13 years); or specific hypertensive drug treatment.(4) Plasma triglycerides 1.15 mmol/L (age < 10 years) or 1.70 mmol/L (age 10 years); or lipid lowering treatment.(5) Plasma high-density lipoprotein cholesterol 1.0 mmol/L (adult male, pediatric) or 1.3 mmol/L (adult female); or lipid lowering treatment." }, "synonyms": [ { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "non-alcoholic fatty liver disease", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "NAFLD", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "metabolic dysfunction-associated fatty liver disease", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "metabolic dysfunction-related steatotic liver disease", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "MAFLD", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "MASLD", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "metabolic-associated fatty liver disease", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "nonalcoholic fatty liver disease", "description": "" }, { "id": "MONDO:0013246", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013246", "name": "fatty liver disease, nonalcoholic, susceptibility to, 2", "description": "" }, { "id": "MONDO:0013246", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013246", "name": "NAFLD2", "description": "" }, { "id": "MONDO:0013246", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013246", "name": "fatty liver disease, nonalcoholic, susceptibility to, 2", "description": "" }, { "id": "MONDO:0021105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021105", "name": "NAFLD1", "description": "" }, { "id": "MONDO:0021105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021105", "name": "NAFLD1", "description": "" }, { "id": "MONDO:0021105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021105", "name": "fatty liver disease, nonalcoholic, susceptibility to, 1", "description": "" }, { "id": "MONDO:0021105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021105", "name": "liver disease, alcoholic, susceptibility to, 1", "description": "" }, { "id": "MIM:613282", "resource": "MIM", "url": "https://www.omim.org/entry/613282", "name": "Non-alcoholic fatty liver disease 1", "description": "Non-alcoholic fatty liver disease 1" } ], "evidence": [ { "id": "0080208", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ] }, { "disease_id": "DOID:0110014", "recommended_name": { "id": "DOID:0110014", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110014", "name": "age related macular degeneration 1", "description": "An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1." }, "synonyms": [ { "id": "DOID:0110014", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110014", "name": "ARMD1", "description": "" }, { "id": "DOID:0110014", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110014", "name": "age related maculopathy 1", "description": "" }, { "id": "MONDO:0011285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011285", "name": "age related macular degeneration 1", "description": "An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1." }, { "id": "MONDO:0011285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011285", "name": "macular degeneration, age-related", "description": "" }, { "id": "MONDO:0011285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011285", "name": "ARMD1", "description": "" }, { "id": "MONDO:0011285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011285", "name": "age related macular degeneration type 1", "description": "" }, { "id": "MONDO:0011285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011285", "name": "age related maculopathy 1", "description": "" }, { "id": "MONDO:0011285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011285", "name": "macular Degeneration, age-related, type 1", "description": "" }, { "id": "MONDO:0011285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011285", "name": "macular degeneration, age-related, reduced risk of", "description": "" }, { "id": "MONDO:0011285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011285", "name": "macular degeneration, age-related, 1", "description": "" }, { "id": "MONDO:0011285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011285", "name": "maculopathy, age-related, 1", "description": "" }, { "id": "MIM:603075", "resource": "MIM", "url": "https://www.omim.org/entry/603075", "name": "Macular degeneration, age-related, 1", "description": "Macular degeneration, age-related, 1" } ], "evidence": [ { "id": "0110014", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110014" } ] }, { "disease_id": "DOID:0110035", "recommended_name": { "id": "DOID:0110035", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110035", "name": "Alzheimer's disease 2", "description": "An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele." }, "synonyms": [ { "id": "DOID:0110035", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110035", "name": "AD2", "description": "" }, { "id": "DOID:0110035", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110035", "name": "Alzheimer disease 2, late onset", "description": "" }, { "id": "DOID:0110035", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110035", "name": "Alzheimer disease associated with APOE4", "description": "" }, { "id": "DOID:0110035", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110035", "name": "Alzheimer disease-2", "description": "" }, { "id": "MONDO:0007089", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007089", "name": "Alzheimer disease 2", "description": "An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele." }, { "id": "MONDO:0007089", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007089", "name": "AD2", "description": "" }, { "id": "MONDO:0007089", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007089", "name": "Alzheimer disease 2", "description": "" }, { "id": "MONDO:0007089", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007089", "name": "Alzheimer disease 2, late onset", "description": "" }, { "id": "MONDO:0007089", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007089", "name": "Alzheimer disease associated with APOE E4", "description": "" }, { "id": "MONDO:0007089", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007089", "name": "Alzheimer disease associated with APOE4", "description": "" }, { "id": "MONDO:0007089", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007089", "name": "Alzheimer disease type 2", "description": "" }, { "id": "MONDO:0007089", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007089", "name": "Alzheimer disease-2", "description": "" }, { "id": "MONDO:0007089", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007089", "name": "Alzheimer's disease 2", "description": "" }, { "id": "MONDO:0007089", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007089", "name": "Alzheimer's disease type 2", "description": "" }, { "id": "MONDO:0007089", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007089", "name": "late onset Alzheimer disease", "description": "" }, { "id": "MONDO:0007089", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007089", "name": "late onset familial Alzheimer disease", "description": "" }, { "id": "MONDO:0007089", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007089", "name": "late-onset familial alzheimer disease", "description": "" }, { "id": "MONDO:0007089", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007089", "name": "Alzheimer disease 2, late-onset", "description": "" }, { "id": "MONDO:0007089", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007089", "name": "LOFAD", "description": "" }, { "id": "MIM:104310", "resource": "MIM", "url": "https://www.omim.org/entry/104310", "name": "Alzheimer disease 2", "description": "Alzheimer disease 2" } ], "evidence": [ { "id": "0110035", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110035" } ] }, { "disease_id": "DOID:0110042", "recommended_name": { "id": "DOID:0110042", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110042", "name": "Alzheimer's disease 3", "description": "An Alzheimer's disease that has_material_basis_in mutation in the presenilin-1 gene (PSEN1) on chromosome 14q24." }, "synonyms": [ { "id": "DOID:0110042", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110042", "name": "AD3", "description": "" }, { "id": "DOID:0110042", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110042", "name": "Alzheimer disease 3", "description": "" }, { "id": "DOID:0110042", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110042", "name": "Alzheimer disease 3, early onset", "description": "" }, { "id": "DOID:0110042", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110042", "name": "Alzheimer disease familial 3", "description": "" }, { "id": "MONDO:0011913", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011913", "name": "Alzheimer disease 3", "description": "Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene." }, { "id": "MONDO:0011913", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011913", "name": "AD3", "description": "" }, { "id": "MONDO:0011913", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011913", "name": "Alzheimer disease 3", "description": "" }, { "id": "MONDO:0011913", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011913", "name": "Alzheimer disease 3, early onset", "description": "" }, { "id": "MONDO:0011913", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011913", "name": "Alzheimer disease familial 3", "description": "" }, { "id": "MONDO:0011913", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011913", "name": "Alzheimer disease type 3", "description": "" }, { "id": "MONDO:0011913", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011913", "name": "Alzheimer disease, protection against, due to APOE3-Christchurch", "description": "" }, { "id": "MONDO:0011913", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011913", "name": "Alzheimer disease, type 3", "description": "" }, { "id": "MONDO:0011913", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011913", "name": "Alzheimer disease, type 3, with spastic paraparesis and apraxia", "description": "" }, { "id": "MONDO:0011913", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011913", "name": "Alzheimer disease, type 3, with spastic paraparesis and unusual plaques", "description": "" }, { "id": "MONDO:0011913", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011913", "name": "Alzheimer's disease 3", "description": "" }, { "id": "MONDO:0011913", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011913", "name": "Alzheimer's disease type 3", "description": "" }, { "id": "MONDO:0011913", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011913", "name": "PSEN1 early-onset autosomal dominant Alzheimer disease", "description": "" }, { "id": "MONDO:0011913", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011913", "name": "early-onset autosomal dominant Alzheimer disease caused by mutation in PSEN1", "description": "" }, { "id": "MONDO:0011913", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011913", "name": "familial Alzheimer disease, type 3", "description": "" }, { "id": "MONDO:0011913", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011913", "name": "familial Alzheimer's disease, type 3", "description": "" }, { "id": "MONDO:0011913", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011913", "name": "AD", "description": "" }, { "id": "MONDO:0011913", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011913", "name": "Alzheimer disease 3, early-onset", "description": "" }, { "id": "MONDO:0011913", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011913", "name": "Alzheimer disease early onset type 3", "description": "" }, { "id": "MONDO:0011913", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011913", "name": "Alzheimer disease, familial, 3", "description": "" }, { "id": "MONDO:0011913", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011913", "name": "Alzheimer disease, familial, 3, with spastic paraparesis and apraxia", "description": "" }, { "id": "MONDO:0011913", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011913", "name": "Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques", "description": "" }, { "id": "MIM:607822", "resource": "MIM", "url": "https://www.omim.org/entry/607822", "name": "Alzheimer disease 3", "description": "Alzheimer disease 3" } ], "evidence": [ { "id": "0110042", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110042" } ] }, { "disease_id": "DOID:10003", "recommended_name": { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "sensorineural hearing loss", "description": "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem." }, "synonyms": [ { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "High Frequency Hearing Loss", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "High frequency deafness", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "Perceptive deafness", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "Perceptive hearing loss", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "Perceptive hearing loss or deafness", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "Sensorineural Deafness", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "Sensory hearing loss", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "central hearing loss", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "high-frequency hearing loss", "description": "" } ], "evidence": [ { "id": "10003", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10003" } ] }, { "disease_id": "DOID:10211", "recommended_name": { "id": "DOID:10211", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10211", "name": "cholelithiasis", "description": "" }, "synonyms": [], "evidence": [ { "id": "10211", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10211" } ] }, { "disease_id": "DOID:10230", "recommended_name": { "id": "DOID:10230", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10230", "name": "aortic atherosclerosis", "description": "" }, "synonyms": [ { "id": "DOID:10230", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10230", "name": "Atherosclerosis of aorta", "description": "" } ], "evidence": [ { "id": "10230", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10230" } ] }, { "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:1067", "recommended_name": { "id": "DOID:1067", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1067", "name": "open-angle glaucoma", "description": "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage." }, "synonyms": [ { "id": "DOID:1067", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1067", "name": "Wide-angle glaucoma", "description": "" }, { "id": "DOID:1067", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1067", "name": "glaucoma simplex", "description": "" }, { "id": "DOID:1067", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1067", "name": "open angle glaucoma", "description": "" }, { "id": "DOID:1067", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1067", "name": "pigmentary glaucoma", "description": "" }, { "id": "MONDO:0012645", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012645", "name": "glaucoma 1, open angle, N", "description": "" }, { "id": "MONDO:0012645", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012645", "name": "GLC1N", "description": "" }, { "id": "MONDO:0012645", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012645", "name": "JOAG1N", "description": "" }, { "id": "MONDO:0012645", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012645", "name": "glaucoma 1, open angle, N", "description": "" }, { "id": "MONDO:0012646", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012646", "name": "obsolete glaucoma 1, open angle, H", "description": "" }, { "id": "MONDO:0012646", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012646", "name": "GLC1H", "description": "" }, { "id": "MONDO:0012646", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012646", "name": "glaucoma 1, open angle, H", "description": "" }, { "id": "MONDO:0012337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012337", "name": "obsolete glaucoma 1, open angle, I", "description": "" }, { "id": "MONDO:0012337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012337", "name": "GLC1I", "description": "" }, { "id": "MONDO:0012337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012337", "name": "glaucoma 1, open angle, I", "description": "" }, { "id": "MONDO:0012515", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012515", "name": "glaucoma 1, open angle, M", "description": "" }, { "id": "MONDO:0012515", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012515", "name": "GLC1M", "description": "" }, { "id": "MONDO:0012515", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012515", "name": "JOAG1M", "description": "" }, { "id": "MONDO:0012515", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012515", "name": "glaucoma 1, open angle, M", "description": "" }, { "id": "MONDO:0012357", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012357", "name": "obsolete glaucoma 1, open angle, G", "description": "OBSOLETE. Any open-angle glaucoma in which the cause of the disease is a mutation in the WDR36 gene." }, { "id": "MONDO:0012357", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012357", "name": "WDR36 open-angle glaucoma", "description": "" }, { "id": "MONDO:0012357", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012357", "name": "glaucoma 1, open angle, G", "description": "" }, { "id": "MONDO:0012357", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012357", "name": "glaucoma 1, open angle, type G", "description": "" }, { "id": "MONDO:0012357", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012357", "name": "open-angle glaucoma caused by mutation in WDR36", "description": "" }, { "id": "MONDO:0012357", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012357", "name": "GLC1G", "description": "" }, { "id": "MONDO:0012101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012101", "name": "glaucoma 1, open angle, J", "description": "" }, { "id": "MONDO:0012101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012101", "name": "GLC1J", "description": "" }, { "id": "MONDO:0012101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012101", "name": "JOAG1J", "description": "" }, { "id": "MONDO:0012101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012101", "name": "JOAG2", "description": "" }, { "id": "MONDO:0012101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012101", "name": "glaucoma 1, open angle, J", "description": "" }, { "id": "MONDO:0012101", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012101", "name": "glaucoma, primary open angle, juvenile-onset, 2", "description": "" }, { "id": "MONDO:0012102", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012102", "name": "glaucoma 1, open angle, K", "description": "" }, { "id": "MONDO:0012102", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012102", "name": "GLC1K", "description": "" }, { "id": "MONDO:0012102", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012102", "name": "JOAG1K", "description": "" }, { "id": "MONDO:0012102", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012102", "name": "glaucoma 1, open angle, K", "description": "" }, { "id": "MONDO:0012102", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012102", "name": "glaucoma 1K, primary open angle, juvenile-onset", "description": "" }, { "id": "MONDO:0012102", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012102", "name": "glaucoma, primary open angle, juvenile-onset, 3", "description": "" }, { "id": "MONDO:0013134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013134", "name": "glaucoma 1, open angle, O", "description": "Any open-angle glaucoma in which the cause of the disease is a mutation in the NTF4 gene." }, { "id": "MONDO:0013134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013134", "name": "NTF4 open-angle glaucoma", "description": "" }, { "id": "MONDO:0013134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013134", "name": "glaucoma 1, open angle, 1O", "description": "" }, { "id": "MONDO:0013134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013134", "name": "glaucoma 1, open angle, O", "description": "" }, { "id": "MONDO:0013134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013134", "name": "glaucoma 1, open angle, type O", "description": "" }, { "id": "MONDO:0013134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013134", "name": "open-angle glaucoma caused by mutation in NTF4", "description": "" }, { "id": "MONDO:0013134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013134", "name": "GLC1O", "description": "" }, { "id": "MONDO:0011311", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011311", "name": "obsolete glaucoma 1, open angle, F", "description": "" }, { "id": "MONDO:0011311", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011311", "name": "glaucoma 1, open angle, F", "description": "" }, { "id": "MONDO:0011311", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011311", "name": "glaucoma 1, open angle, type F", "description": "" }, { "id": "MONDO:0011311", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011311", "name": "GLC1F", "description": "" }, { "id": "MONDO:0011311", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011311", "name": "glaucoma, primary open angle, adult-onset", "description": "" }, { "id": "MONDO:0011222", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011222", "name": "obsolete glaucoma 1, open angle, D", "description": "" }, { "id": "MONDO:0011222", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011222", "name": "GLC1D", "description": "" }, { "id": "MONDO:0011222", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011222", "name": "glaucoma 1, open angle, D", "description": "" }, { "id": "MONDO:0011222", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011222", "name": "glaucoma 1D, primary open angle", "description": "" }, { "id": "MONDO:0011222", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011222", "name": "glaucoma, primary open angle, adult-onset", "description": "" }, { "id": "MONDO:0011704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011704", "name": "obsolete glaucoma 1, open angle, B", "description": "" }, { "id": "MONDO:0011704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011704", "name": "GLC1B", "description": "" }, { "id": "MONDO:0011704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011704", "name": "glaucoma 1, open angle, B", "description": "" }, { "id": "MONDO:0011704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011704", "name": "glaucoma 1B, primary open angle, adult onset", "description": "" }, { "id": "MONDO:0008328", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008328", "name": "glaucoma 1, open angle, P", "description": "" }, { "id": "MONDO:0008328", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008328", "name": "glaucoma 1, open angle, P", "description": "" }, { "id": "MONDO:0008328", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008328", "name": "glaucoma 1, open angle, type P", "description": "" }, { "id": "MONDO:0008328", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008328", "name": "GLC1P", "description": "" }, { "id": "MIM:609887", "resource": "MIM", "url": "https://www.omim.org/entry/609887", "name": "Glaucoma 1, open angle, G", "description": "Glaucoma 1, open angle, G" }, { "id": "MIM:613100", "resource": "MIM", "url": "https://www.omim.org/entry/613100", "name": "Glaucoma 1, open angle, O", "description": "Glaucoma 1, open angle, O" }, { "id": "MIM:603383", "resource": "MIM", "url": "https://www.omim.org/entry/603383", "name": "Glaucoma 1, open angle, F", "description": "Glaucoma 1, open angle, F" }, { "id": "MIM:177700", "resource": "MIM", "url": "https://www.omim.org/entry/177700", "name": "Glaucoma 1, open angle, P", "description": "Glaucoma 1, open angle, P" } ], "evidence": [ { "id": "1067", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1067" } ] }, { "disease_id": "DOID:1070", "recommended_name": { "id": "DOID:1070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure." }, "synonyms": [ { "id": "DOID:1070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1070", "name": "chronic simple glaucoma", "description": "" }, { "id": "MONDO:0007665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007665", "name": "obsolete glaucoma 1, open angle, E", "description": "OBSOLETE. A form of glaucoma in which there is no visible abnormality in the trabecular meshwork." }, { "id": "MONDO:0007665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007665", "name": "chronic simple glaucoma", "description": "" }, { "id": "MONDO:0007665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007665", "name": "glaucoma 1, open angle, E", "description": "" }, { "id": "MONDO:0007665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007665", "name": "glaucoma, primary open angle, adult-onset", "description": "" }, { "id": "MIM:137760", "resource": "MIM", "url": "https://www.omim.org/entry/137760", "name": "Glaucoma, primary open angle", "description": "Glaucoma, primary open angle" } ], "evidence": [ { "id": "1070", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ] }, { "disease_id": "DOID: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:10873", "recommended_name": { "id": "DOID:10873", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10873", "name": "Kuhnt-Junius degeneration", "description": "" }, "synonyms": [ { "id": "DOID:10873", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10873", "name": "Exudative senile macular degeneration of retina", "description": "" }, { "id": "DOID:10873", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10873", "name": "Neovascular age-related macular degeneration", "description": "" }, { "id": "DOID:10873", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10873", "name": "Senile macular degeneration, wet", "description": "" }, { "id": "DOID:10873", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10873", "name": "Wet senile macular retinal degeneration", "description": "" } ], "evidence": [ { "id": "10873", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10873" } ] }, { "disease_id": "DOID:10976", "recommended_name": { "id": "DOID:10976", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10976", "name": "membranous glomerulonephritis", "description": "" }, "synonyms": [ { "id": "DOID:10976", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10976", "name": "membranous nephropathy", "description": "" } ], "evidence": [ { "id": "10976", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10976" } ] }, { "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:1168", "recommended_name": { "id": "DOID:1168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1168", "name": "familial hyperlipidemia", "description": "" }, "synonyms": [ { "id": "DOID:1168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1168", "name": "familial hyperlipoproteinemia", "description": "" }, { "id": "DOID:1168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1168", "name": "hyperlipemia", "description": "" } ], "evidence": [ { "id": "1168", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ] }, { "disease_id": "DOID:1184", "recommended_name": { "id": "DOID:1184", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1184", "name": "nephrotic syndrome", "description": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability." }, "synonyms": [], "evidence": [ { "id": "1184", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1184" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body variant of Alzheimer disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease with gaze palsy", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "evidence": [ { "id": "12217", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:12241", "recommended_name": { "id": "DOID:12241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12241", "name": "beta thalassemia", "description": "A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin." }, "synonyms": [ { "id": "MONDO:0013517", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013517", "name": "beta-thalassemia HBB/LCRB", "description": "Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype." }, { "id": "MONDO:0013517", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013517", "name": "thalassemia, beta", "description": "" }, { "id": "MONDO:0013517", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013517", "name": "thalassemia, hispanic gamma-delta-beta", "description": "" }, { "id": "MONDO:0013517", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013517", "name": "beta-thalassemia", "description": "" }, { "id": "MIM:613985", "resource": "MIM", "url": "https://www.omim.org/entry/613985", "name": "Beta-thalassemia", "description": "Beta-thalassemia" } ], "evidence": [ { "id": "12241", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12241" } ] }, { "disease_id": "DOID:12365", "recommended_name": { "id": "DOID:12365", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12365", "name": "malaria", "description": "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle." }, "synonyms": [ { "id": "DOID:12365", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12365", "name": "induced malaria", "description": "" } ], "evidence": [ { "id": "12365", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12365" } ] }, { "disease_id": "DOID:12894", "recommended_name": { "id": "DOID:12894", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva." }, "synonyms": [ { "id": "DOID:12894", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12894", "name": "Sicca syndrome", "description": "" }, { "id": "DOID:12894", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12894", "name": "Sjogren syndrome", "description": "" }, { "id": "DOID:12894", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12894", "name": "xerodermosteosis", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "Sjogren syndrome", "description": "An autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjgren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjgren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "Sjogren syndrome", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "Sjgren syndrome", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "Sjgren-Gougerot syndrome", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "primary Sjogren-Gougerot syndrome", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "primary Sjgren-Gougerot syndrome", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "sicca syndrome", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "syndrome, Sjogren's", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "xerodermosteosis", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "Sjogren's syndrome", "description": "" }, { "id": "MONDO:0010030", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010030", "name": "primary Sjgren syndrome", "description": "" } ], "evidence": [ { "id": "12894", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ] }, { "disease_id": "DOID:12930", "recommended_name": { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently." }, "synonyms": [ { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "primary dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, congestive", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, familial idiopathic", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, idiopathic dilated", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "evidence": [ { "id": "12930", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ] }, { "disease_id": "DOID:13544", "recommended_name": { "id": "DOID:13544", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13544", "name": "low tension glaucoma", "description": "An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision." }, "synonyms": [ { "id": "DOID:13544", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13544", "name": "Normal tension glaucoma", "description": "" } ], "evidence": [ { "id": "13544", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13544" } ] }, { "disease_id": "DOID:13550", "recommended_name": { "id": "DOID:13550", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13550", "name": "angle-closure glaucoma", "description": "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis." }, "synonyms": [ { "id": "DOID:13550", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13550", "name": "ACG - Angle-closure glaucoma", "description": "" }, { "id": "DOID:13550", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13550", "name": "Angle Closure Glaucoma", "description": "" }, { "id": "DOID:13550", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13550", "name": "Closed angle glaucoma", "description": "" }, { "id": "DOID:13550", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13550", "name": "Narrow cleft glaucoma", "description": "" }, { "id": "DOID:13550", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13550", "name": "primary open-angle glaucoma with narrow angles", "description": "" } ], "evidence": [ { "id": "13550", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13550" } ] }, { "disease_id": "DOID:13580", "recommended_name": { "id": "DOID:13580", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13580", "name": "cholestasis", "description": "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum." }, "synonyms": [ { "id": "DOID:13580", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13580", "name": "Obstruction of bile duct", "description": "" }, { "id": "DOID:13580", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13580", "name": "bile occlusion", "description": "" } ], "evidence": [ { "id": "13580", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13580" } ] }, { "disease_id": "DOID:13641", "recommended_name": { "id": "DOID:13641", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13641", "name": "exfoliation syndrome", "description": "A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures." }, "synonyms": [ { "id": "DOID:13641", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13641", "name": "Pseudoexfoliation glaucoma", "description": "" }, { "id": "DOID:13641", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13641", "name": "Pseudoexfoliation syndrome", "description": "" }, { "id": "MONDO:0100046", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100046", "name": "exfoliation syndrome, susceptibility to", "description": "An inherited susceptibility or predisposition to developing exfoliation syndrome." }, { "id": "MONDO:0100046", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100046", "name": "pseudoexfoliation glaucoma", "description": "" }, { "id": "MONDO:0100046", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100046", "name": "pseudoexfoliation of the lens", "description": "" }, { "id": "MONDO:0100046", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100046", "name": "pseudoexfoliation syndrome", "description": "" }, { "id": "MIM:177650", "resource": "MIM", "url": "https://www.omim.org/entry/177650", "name": "Exfoliation syndrome", "description": "Exfoliation syndrome" } ], "evidence": [ { "id": "13641", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13641" } ] }, { "disease_id": "DOID:13809", "recommended_name": { "id": "DOID:13809", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13809", "name": "familial combined hyperlipidemia", "description": "" }, "synonyms": [ { "id": "DOID:13809", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13809", "name": "familial multiple lipoprotein-type hyperlipidemia", "description": "" }, { "id": "DOID:13809", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13809", "name": "mixed hyperlipidaemia", "description": "" }, { "id": "DOID:13809", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13809", "name": "type IIb hyperlipoproteinemia", "description": "" }, { "id": "DOID:13809", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13809", "name": "hyperbetalipoproteinemia with prebetalipoproteinemia", "description": "" }, { "id": "MONDO:0007759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007759", "name": "hyperlipidemia, familial combined, LPL related", "description": "" }, { "id": "MONDO:0007759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007759", "name": "combined hyperlipidemia, familial", "description": "" }, { "id": "MONDO:0007759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007759", "name": "FCHL", "description": "" }, { "id": "MONDO:0007759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007759", "name": "familial combined hyperlipidemia", "description": "" }, { "id": "MONDO:0007759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007759", "name": "hyperlipidemia, familial combined", "description": "" }, { "id": "MIM:144250", "resource": "MIM", "url": "https://www.omim.org/entry/144250", "name": "Hyperlipidemia, familial combined, 3", "description": "Hyperlipidemia, familial combined, 3" } ], "evidence": [ { "id": "13809", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13809" } ] }, { "disease_id": "DOID:13810", "recommended_name": { "id": "DOID:13810", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13810", "name": "familial hypercholesterolemia", "description": "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease." }, "synonyms": [ { "id": "DOID:13810", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13810", "name": "Fredrickson type IIa hyperlipoproteinemia", "description": "" }, { "id": "DOID:13810", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13810", "name": "Fredrickson type IIa lipidaemia", "description": "" }, { "id": "DOID:13810", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13810", "name": "familial hyperbetalipoproteinaemia", "description": "" }, { "id": "DOID:13810", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13810", "name": "familial hypercholesteremia", "description": "" }, { "id": "DOID:13810", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13810", "name": "hyperbetalipoproteinemia", "description": "" }, { "id": "DOID:13810", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13810", "name": "type II hyperlipidemia", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "hypercholesterolemia, familial, 1", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "FHCL1", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "LDL cholesterol level QTL2", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "LDL receptor disorder", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "hypercholesterolemia, familial", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "hypercholesterolemia, familial, 1", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "hypercholesterolemia, familial, due to ldlr defect, modifier of", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "hypercholesterolemia, familial, modifier of", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "hypercholesterolemic xanthomatosis, familial", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "hyperlipoproteinemia, type 2", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "hyperlipoproteinemia, type 2A", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "FHC", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "hyper-low-density-lipoproteinemia", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "hypercholesterolemia, susceptibility to", "description": "" }, { "id": "MONDO:0007750", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007750", "name": "low density lipoprotein cholesterol level quantitative trait locus 2", "description": "" }, { "id": "MIM:143890", "resource": "MIM", "url": "https://www.omim.org/entry/143890", "name": "Hypercholesterolemia, familial, 1", "description": "Hypercholesterolemia, familial, 1" } ], "evidence": [ { "id": "13810", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13810" } ] }, { "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", 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"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:1459", "recommended_name": { "id": "DOID:1459", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone." }, "synonyms": [ { "id": "DOID:1459", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1459", "name": "Thyroid deficiency", "description": "" }, { "id": "DOID:1459", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1459", "name": "Thyroid insufficiency", "description": "" } ], "evidence": [ { "id": "1459", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "evidence": [ { "id": "1612", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" 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"coronary artery disease, Severe, Susceptibility to", "description": "" }, { "id": "MONDO:0018473", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018473", "name": "dysbetalipoproteinemia", "description": "" }, { "id": "MONDO:0018473", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018473", "name": "dysbetalipoproteinemia due to defect in apolipoprotein E-D", "description": "" }, { "id": "MONDO:0018473", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018473", "name": "familial Hyperbeta- and Prebetalipoproteinemia", "description": "" }, { "id": "MONDO:0018473", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018473", "name": "familial hypercholesterolaemia with hyperlipaemia", "description": "" }, { "id": "MONDO:0018473", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018473", "name": "familial hypercholesterolemia with hyperlipemia", "description": "" 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"https://www.omim.org/entry/617347", "name": "Hyperlipoproteinemia 3", "description": "Hyperlipoproteinemia 3" } ], "evidence": [ { "id": "3145", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3145" } ] }, { "disease_id": "DOID:3310", "recommended_name": { "id": "DOID:3310", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking." }, "synonyms": [ { "id": "DOID:3310", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3310", "name": "Atopic neurodermatitis", "description": "" }, { "id": "DOID:3310", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3310", "name": "Besnier's prurigo", "description": "" }, { "id": "DOID:3310", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3310", "name": "allergic dermatitis", "description": "" }, { "id": "DOID:3310", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3310", "name": "atopic eczema", "description": "" }, { "id": "MONDO:0011292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011292", "name": "dermatitis, atopic", "description": "" }, { "id": "MONDO:0011292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011292", "name": "ATOD", "description": "" }, { "id": "MONDO:0011292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011292", "name": "dermatitis, atopic", "description": "" }, { "id": "MONDO:0011292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011292", "name": "eczema, atopic", "description": "" } ], "evidence": [ { "id": "3310", "database": "Alliance of Genome Resources", "url": 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"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:3905", "recommended_name": { "id": "DOID:3905", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3905", "name": "lung carcinoma", "description": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis." }, "synonyms": [ { "id": "DOID:3905", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3905", "name": "cancer of lung", "description": "" } ], "evidence": [ { "id": "3905", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ] }, { "disease_id": "DOID:4423", "recommended_name": { "id": "DOID:4423", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4423", "name": "sea-blue histiocytosis", "description": "A sphingolipidosis characterized by dysfunctional metabolism of sphingolipids." }, "synonyms": [ { "id": "DOID:4423", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4423", "name": "Sea-blue histiocyte syndrome", "description": "" }, { "id": "MONDO:0010017", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010017", "name": "sea-blue histiocyte syndrome", "description": "A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly." }, { "id": "MONDO:0010017", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010017", "name": "SEA-blue histiocyte disease", "description": "" }, { "id": "MONDO:0010017", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010017", "name": "histiocytosis, Sea-blue", "description": "" }, { "id": "MONDO:0010017", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010017", "name": "inherited Lipemic splenomegaly", "description": "" }, { "id": "MONDO:0010017", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010017", "name": "sea-blue histiocytosis", "description": "" }, { "id": "MIM:269600", "resource": "MIM", "url": "https://www.omim.org/entry/269600", "name": "Sea-blue histiocyte disease", "description": "Sea-blue histiocyte disease" } ], "evidence": [ { "id": "4423", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4423" } ] }, { "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:4606", "recommended_name": { "id": "DOID:4606", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4606", "name": "bile duct cancer", "description": "A biliary tract cancer that is located_in the bile duct." }, "synonyms": [ { "id": "DOID:4606", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4606", "name": "Ca extrahepatic bile ducts", "description": "" }, { "id": "DOID:4606", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4606", "name": "bile duct tumor", "description": "" }, { "id": "DOID:4606", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4606", "name": "malignant neoplasm of the extrahepatic bile duct", "description": "" } ], "evidence": [ { "id": "4606", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4606" } ] }, { "disease_id": "DOID:5679", "recommended_name": { "id": "DOID:5679", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5679", "name": "retinal disease", "description": "An eye disease that is located_in the retina." }, "synonyms": [], "evidence": [ { "id": "5679", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5679" } ] }, { "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:6000", "recommended_name": { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body." }, "synonyms": [ { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "CHF", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Cardiac Failure Congestive", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Congestive heart disease", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Weak heart", "description": "" } ], "evidence": [ { "id": "6000", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ] }, { "disease_id": "DOID:6713", "recommended_name": { "id": "DOID:6713", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6713", "name": "cerebrovascular disease", "description": "An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain." }, "synonyms": [ { "id": "DOID:6713", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6713", "name": "CVA", "description": "" }, { "id": "DOID:6713", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6713", "name": "cerebrovascular disorder", "description": "" }, { "id": "DOID:6713", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6713", "name": "stroke", "description": "" } ], "evidence": [ { "id": "6713", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:6713" } ] }, { "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:8566", "recommended_name": { "id": "DOID:8566", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8566", "name": "herpes simplex", "description": "A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which are transmitted_by direct contact with an active lesion or body fluid of an infected person." }, "synonyms": [ { "id": "DOID:8566", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8566", "name": "Herpesvirus hominis disease", "description": "" } ], "evidence": [ { "id": "8566", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8566" } ] }, { "disease_id": "DOID:8893", "recommended_name": { "id": "DOID:8893", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales." }, "synonyms": [ { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "psoriasis 1, susceptibility to", "description": "Any psoriasis in which the cause of the disease is a mutation in the HLA-C gene." }, { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "HLA-C psoriasis", "description": "" }, { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "psoriasis 1, susceptibility to", "description": "" }, { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "psoriasis caused by mutation in HLA-C", "description": "" }, { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "psoriasis susceptibility 1", "description": "" }, { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "PSORS1", "description": "" }, { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "susceptibility to psoriasis 1", "description": "" }, { "id": "MIM:177900", "resource": "MIM", "url": "https://www.omim.org/entry/177900", "name": "Psoriasis 1", "description": "Psoriasis 1" } ], "evidence": [ { "id": "8893", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ] }, { "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:9279", "recommended_name": { "id": "DOID:9279", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9279", "name": "hyperhomocysteinemia", "description": "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood." }, "synonyms": [ { "id": "MONDO:0004743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004743", "name": "hyperhomocysteinemia", "description": "A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents." }, { "id": "MONDO:0004743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004743", "name": "homocysteinemia", "description": "" }, { "id": "MONDO:0004743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004743", "name": "hyperhomocysteinemia", "description": "" } ], "evidence": [ { "id": "9279", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9279" } ] }, { "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:9452", "recommended_name": { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes." }, "synonyms": [ { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "SLD", "description": "" }, { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "fatty liver disease", "description": "" }, { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "Fatty change of liver", "description": "" }, { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "Steatosis of liver", "description": "" }, { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "alcoholic fatty liver", "description": "" }, { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "hepatic lipidosis", "description": "" }, { "id": "DOID:9452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9452", "name": "hepatic steatosis", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "visceral steatosis, congenital", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "visceral steatosis, congenital", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "White liver disease", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "fatal neonatal hepatic steatosis", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "fatty liver disease, congenital", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "fatty metamorphosis of viscera", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "steatosis of liver", "description": "" }, { "id": "MONDO:0009220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009220", "name": "visceral steatosis", "description": "" } ], "evidence": [ { "id": "9452", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ] }, { "disease_id": "DOID:9538", "recommended_name": { "id": "DOID:9538", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow." }, "synonyms": [ { "id": "DOID:9538", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9538", "name": "myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloma", "description": "A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Kahler disease", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Kahler's disease", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "medullary plasmacytoma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma, resistance to, Somatic mutation", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma, susceptibility to, Somatic mutation", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "multiple myeloma/plasma cell myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloid neoplasm of plasma cell", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma, multiple", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma, plasma cell, malignant", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myelomatosis", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloid neoplasm", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "plasma cell myeloma", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "Al amyloidosis", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "amyloidosis, systemic", "description": "" }, { "id": "MONDO:0009693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009693", "name": "myeloma - multiple", "description": "" }, { "id": "MIM:254500", "resource": "MIM", "url": "https://www.omim.org/entry/254500", "name": "Multiple myeloma", "description": "Multiple myeloma" } ], "evidence": [ { "id": "9538", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ] }, { "disease_id": "DOID: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": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "common_name": "Rat" } ], "gene": [ { "name": "Apoe", "url": "https://www.uniprot.org/uniprot/P02650", "locus": { "chromosome": "1", "start_pos": 79353916, "end_pos": 79357932, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000018454", "url": "https://www.ensembl.org/id/ENSRNOG00000018454" } ] } } ], "crossref": [ { "id": "ENSRNOG00000018454", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000018454", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "25728", "url": 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{ "id": "PTHR18976:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18976:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF01442", "url": "http://pfam.xfam.org/family/PF01442", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P02650", "url": "http://purl.obolibrary.org/obo/PR_P02650", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-RNO-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-3000480", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-381426", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-8957275", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-8957275", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-8963888", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-8963888", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-8963901", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-8963901", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-8964026", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-8964026", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-8964058", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-8964058", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-975634", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001257610", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257610", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "2138", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=2138", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "A0A0G2K151", "url": "https://www.uniprot.org/uniprot/A0A0G2K151", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2K151-1", "url": "https://www.uniprot.org/uniprot/A0A0G2K151-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I6ACI7", "url": "https://www.uniprot.org/uniprot/A0A8I6ACI7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I6ACI7-1", "url": "https://www.uniprot.org/uniprot/A0A8I6ACI7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I6ADM8", "url": "https://www.uniprot.org/uniprot/A0A8I6ADM8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I6ADM8-1", "url": "https://www.uniprot.org/uniprot/A0A8I6ADM8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8L2QPE1", "url": "https://www.uniprot.org/uniprot/A0A8L2QPE1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8L2QPE1-1", "url": "https://www.uniprot.org/uniprot/A0A8L2QPE1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8L2R071", "url": "https://www.uniprot.org/uniprot/A0A8L2R071", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8L2R071-1", "url": "https://www.uniprot.org/uniprot/A0A8L2R071-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02650-1", "url": "https://www.uniprot.org/uniprot/P02650-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MKALWALLLVPLLTGCLAEGELEVTDQLPGQSDQPWEQALNRFWDYLRWVQTLSDQVQEELQSSQVTQELTVLMEDTMTEVKAYKKELEEQLGPVAEETRARLAKEVQAAQARLGADMEDLRNRLGQYRNEVNTMLGQSTEELRSRLSTHLRKMRKRLMRDADDLQKRLAVYKAGAQEGAERGVSAIRERLGPLVEQGRQRTANLGAGAAQPLRDRAQALSDRIRGRLEEVGNQARDRLEEVREQMEEVRSKMEEQTQQIRLQAEIFQARIKGWFEPLVEDMQRQWANLMEKIQASVATNSIASTTVPLENQ", "length": 312, "header": "sp|P02650-1|APOE_RAT Isoform 1 of Apolipoprotein E OS=Rattus norvegicus OX=10116 GN=Apoe PE=1 SV=2 CANONICAL=P02650-1" }, "isoforms": [ { "isoform_ac": "A0A0G2K151-1", "url": "", "sequence": { "sequence": "MCCHICCQALLGGFSYCHPLSNSWEWEPLCRRHFSKHPSDWPITTGKMKALWALLLVPLLTGCLAEGELEVTDQLPGQSDQPWEQALNRFWDYLRWVQTLSDQVQEELQSSQVTQELTVLMEDTMTEVKAYKKELEEQLGPVAEETRARLAKEVQAAQARLGADMEDLRNRLGQYRNEVNTMLGQSTEELRSRLSTHLRKMRKRLMRDADDLQKRLAVYKAGAQEGAERGVSAIRERLGPLVEQGRQRTANLGAGAAQPLRDRAQALSDRIRGRLEEVGNQARDRLEEVREQMEEVRSKMEEQTQQIRLQAEIFQARIKGWFEPLVEDMQRQWANLMEKIQASVATNSIASTTVPLENQ", "length": 359, "header": "tr|A0A0G2K151-1|A0A0G2K151_RAT Computationally mapped isoform of Apolipoprotein E OS=Rattus norvegicus OX=10116 GN=Apoe PE=1 SV=1 CANONICAL=P02650-1" }, "locus": { "chromosome": "1", "start_pos": 79357891, "end_pos": 79354037, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000080453.2", "url": "https://www.ensembl.org/id/ENSRNOT00000080453.2" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000071702.1", "url": "https://www.ensembl.org/id/ENSRNOP00000071702.1" } ] } }, { "isoform_ac": "A0A8I6ACI7-1", "url": "", "sequence": { "sequence": "MLVVSKQTPRLTSRRTVASKRPKSTVGPDPALNLLLYTGCLAEGELEVTDQLPGQSDQPWEQALNRFWDYLRWVQTLSDQVQEELQSSQVTQELTVLMEDTMTEVKAYKKELEEQLGPVAEETRARLAKEVQAAQARLGADMEDLRNRLGQYRNEVNTMLGQSTEELRSRLSTHLRKMRKRLMRDADDLQKRLAVYKAGAQEGAERGVSAIRERLGPLVEQGRQRTANLGAGAAQPLRDRAQALSDRIRGRLEEVGNQARDRLEEVREQMEEVRSKMEEQTQQIRLQAEIFQARIKGWFEPLVEDMQRQWANLMEKIQASVATNSIASTTVPLENQ", "length": 336, "header": "tr|A0A8I6ACI7-1|APOE_RAT Computationally mapped isoform of Apolipoprotein E OS=Rattus norvegicus OX=10116 GN=Apoe PE=1 SV=1 CANONICAL=P02650-1" }, "locus": { "chromosome": "1", "start_pos": 79355442, "end_pos": 79354037, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000099048.1", "url": "https://www.ensembl.org/id/ENSRNOT00000099048.1" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000089743.1", "url": "https://www.ensembl.org/id/ENSRNOP00000089743.1" } ] } }, { "isoform_ac": "A0A8I6ADM8-1", "url": "", "sequence": { "sequence": "MKALWALLLVPLLTGCLAEGELEVTDQLPGQSDQPWEQALNRFWDYLRWVQTLSDQVQEELQSSQVTQELTVLMEDTMTEVKAYKKELEEQLGPVAEETRARLAKEVQAAQARLGADMEDLRNRLGQYRNEVNTMLGQSTEELRSRLSTHLRKMRKRLMRDADDLQKRLAVYKAGAQEGAERGVSAIRERLGPLVEQGRQRTANLGAGAAQPLRDRAQALSDRIRGRLEEVGNQARDRLEEVRSKMEEQTQQIRLQAEIFQARIKGWFEPLVEDMQRQWANLMEKIQASVATNSIASTTVPLENQ", "length": 305, "header": "tr|A0A8I6ADM8-1|APOE_RAT Computationally mapped isoform of Apolipoprotein E OS=Rattus norvegicus OX=10116 GN=Apoe PE=1 SV=1 CANONICAL=P02650-1" }, "locus": { "chromosome": "1", "start_pos": 79355863, "end_pos": 79354037, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000108411.1", "url": "https://www.ensembl.org/id/ENSRNOT00000108411.1" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000092257.1", "url": "https://www.ensembl.org/id/ENSRNOP00000092257.1" } ] } }, { "isoform_ac": "A0A8L2QPE1-1", "url": "", "sequence": { "sequence": "MGLSVHCIRAQLEDWPITTGKMKALWALLLVPLLTGCLAEGELEVTDQLPGQSDQPWEQALNRFWDYLRWVQTLSDQVQEELQSSQVTQELTVLMEDTMTEVKAYKKELEEQLGPVAEETRARLAKEVQAAQARLGADMEDLRNRLGQYRNEVNTMLGQSTEELRSRLSTHLRKMRKRLMRDADDLQKRLAVYKAGAQEGAERGVSAIRERLGPLVEQGRQRTANLGAGAAQPLRDRAQALSDRIRGRLEEVGNQARDRLEEVREQMEEVRSKMEEQTQQIRLQAEIFQARIKGWFEPLVEDMQRQWANLMEKIQASVATNSIASTTVPLENQ", "length": 333, "header": "tr|A0A8L2QPE1-1|A0A8L2QPE1_RAT Computationally mapped isoform of Apolipoprotein E OS=Rattus norvegicus OX=10116 GN=Apoe PE=1 SV=1 CANONICAL=P02650-1" }, "locus": { "chromosome": "1", "start_pos": 79356439, "end_pos": 79354037, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000041891.6", "url": "https://www.ensembl.org/id/ENSRNOT00000041891.6" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000050968.4", "url": "https://www.ensembl.org/id/ENSRNOP00000050968.4" } ] } }, { "isoform_ac": "A0A8L2R071-1", "url": "", "sequence": { "sequence": "MCCHICCQALLGGFSYCHPLSNSWEWEPLCRRHFSKHPSGSTVGPDPALNLLLYTGCLAEGELEVTDQLPGQSDQPWEQALNRFWDYLRWVQTLSDQVQEELQSSQVTQELTVLMEDTMTEVKAYKKELEEQLGPVAEETRARLAKEVQAAQARLGADMEDLRNRLGQYRNEVNTMLGQSTEELRSRLSTHLRKMRKRLMRDADDLQKRLAVYKAGAQEGAERGVSAIRERLGPLVEQGRQRTANLGAGAAQPLRDRAQALSDRIRGRLEEVGNQARDRLEEVREQMEEVRSKMEEQTQQIRLQAEIFQARIKGWFEPLVEDMQRQWANLMEKIQASVATNSIASTTVPLENQ", "length": 353, "header": "tr|A0A8L2R071-1|APOE_RAT Computationally mapped isoform of Apolipoprotein E OS=Rattus norvegicus OX=10116 GN=Apoe PE=1 SV=1 CANONICAL=P02650-1" }, "locus": { "chromosome": "1", "start_pos": 79357891, "end_pos": 79354037, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000091574.2", "url": "https://www.ensembl.org/id/ENSRNOT00000091574.2" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000068937.2", "url": "https://www.ensembl.org/id/ENSRNOP00000068937.2" } ] } }, { "isoform_ac": "P02650-1", "url": "", "sequence": { "sequence": "MKALWALLLVPLLTGCLAEGELEVTDQLPGQSDQPWEQALNRFWDYLRWVQTLSDQVQEELQSSQVTQELTVLMEDTMTEVKAYKKELEEQLGPVAEETRARLAKEVQAAQARLGADMEDLRNRLGQYRNEVNTMLGQSTEELRSRLSTHLRKMRKRLMRDADDLQKRLAVYKAGAQEGAERGVSAIRERLGPLVEQGRQRTANLGAGAAQPLRDRAQALSDRIRGRLEEVGNQARDRLEEVREQMEEVRSKMEEQTQQIRLQAEIFQARIKGWFEPLVEDMQRQWANLMEKIQASVATNSIASTTVPLENQ", "length": 312, "header": "sp|P02650-1|APOE_RAT Isoform 1 of Apolipoprotein E OS=Rattus norvegicus OX=10116 GN=Apoe PE=1 SV=2 CANONICAL=P02650-1" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 139, "end_pos": 139, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "iPTMnet", "id": "P02650", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02650" } ], "site_lbl": "Ser139" } ], "glycation": [], "keywords": [], "publication": [ { "title": "A systems biology approach for the investigation of the heparin/heparan sulfate interactome.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Ori A, Wilkinson MC, Fernig DG", "evidence": [ { "database": "MatrixDB", "id": "GAG_1", "url": "http://matrixdb.univ-lyon1.fr/cgi-bin/current/newPort?type=biomolecule&value=GAG_1" } ], "reference": [ { "type": "PubMed", "id": "21454685", "url": "https://glygen.org/publication/PubMed/21454685" } ] }, { "title": "Quantitative maps of protein phosphorylation sites across 14 different rat organs and tissues.", "journal": "Nature communications", "date": "2012", "authors": "Lundby A, Secher A, Lage K, Nordsborg NB, Dmytriyev A, Lundby C, Olsen JV", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" }, { "database": "UniProtKB", "id": "A0A0G2K151", "url": "https://www.uniprot.org/uniprot/A0A0G2K151" }, { "database": "iPTMnet", "id": "P02650", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02650" } ], "reference": [ { "type": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" } ] }, { "title": "Structure and expression of the rat apolipoprotein E gene.", "journal": "J. Biol. Chem.", "date": "1986", "authors": "Howlett G.J., Schreiber G., Fung W.-P.", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "reference": [ { "type": "PubMed", "id": "3020048", "url": "https://glygen.org/publication/PubMed/3020048" } ] }, { "title": "Astrocytic expression of the Alzheimer's disease risk allele, ApoEepsilon4, potentiates neuronal tau pathology in multiple preclinical models.", "journal": "Scientific reports", "date": "2021", "authors": "Jablonski AM, Warren L, Usenovic M, Zhou H, Sugam J, Parmentier-Batteur S, Voleti B", "evidence": [ { "database": "RefSeq", "id": "NP_001257610", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257610" } ], "reference": [ { "type": "PubMed", "id": "33564035", "url": "https://glygen.org/publication/PubMed/33564035" } ] }, { "title": "Cdc42 Facilitates Axonogenesis by Enhancing Microtubule Stabilization in Primary Hippocampal Neurons.", "journal": "Cellular and molecular neurobiology", "date": "2021", "authors": "Li A, Zhu HM, Chen Y, Yan F, Liu ZY, Li ZL, Dong WR, Zhang L, Wang HH", "evidence": [ { "database": "RefSeq", "id": "NP_001257610", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257610" } ], "reference": [ { "type": "PubMed", "id": "33575839", "url": "https://glygen.org/publication/PubMed/33575839" } ] }, { "title": "ApoE4 attenuates cortical neuronal activity in young behaving apoE4 rats.", "journal": "Neurobiology of disease", "date": "2021", "authors": "Har-Paz I, Arieli E, Moran A", "evidence": [ { "database": "RefSeq", "id": "NP_001257610", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257610" } ], "reference": [ { "type": "PubMed", "id": "33932558", "url": "https://glygen.org/publication/PubMed/33932558" } ] }, { "title": "Apolipoprotein E4 Is Associated with Right Ventricular Dysfunction in Dilated Cardiomyopathy-An Animal and In-Human Comparative Study.", "journal": "International journal of molecular sciences", "date": "2021", "authors": "Diaconu R, Schaaps N, Afify M, Boor P, Cornelissen A, Florescu RA, Simsekyilmaz S, El-Khoury T, Schumacher D, Ioana M, Streata I, Militaru C, Donoiu I, Vogt F, Liehn EA", "evidence": [ { "database": "RefSeq", "id": "NP_001257610", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257610" } ], "reference": [ { "type": "PubMed", "id": "34575848", "url": "https://glygen.org/publication/PubMed/34575848" } ] }, { "title": "Monobutyrin and monovalerin improve gut-blood-brain biomarkers and alter gut microbiota composition in high-fat fed apolipoprotein-E-knockout rats.", "journal": "Scientific reports", "date": "2022", "authors": "Nguyen TD, Watanabe A, Burleigh S, Ghaffarzadegan T, Kanklai J, Prykhodko O, Hallenius FF, Nyman M", "evidence": [ { "database": "RefSeq", "id": "NP_001257610", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257610" } ], "reference": [ { "type": "PubMed", "id": "36104381", "url": "https://glygen.org/publication/PubMed/36104381" } ] }, { "title": "Complete nucleotide sequence of the gene encoding the rat apolipoprotein E.", "journal": "Nucleic Acids Res.", "date": "1986", "authors": "Matsumoto A., Fukazawa C., Taylor L.M.", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "reference": [ { "type": "PubMed", "id": "3797247", "url": "https://glygen.org/publication/PubMed/3797247" } ] }, { "title": "Rat apolipoprotein E mRNA. Cloning and sequencing of double-stranded cDNA.", "journal": "J. Biol. Chem.", "date": "1983", "authors": "McLean J.W., Taylor J.M., Fukazawa C.", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "reference": [ { "type": "PubMed", "id": "6190813", "url": "https://glygen.org/publication/PubMed/6190813" } ] }, { "title": "Secretion by Saccharomyces cerevisiae of rat apolipoprotein E as a fusion to Mucor rennin.", "journal": "Appl. Microbiol. Biotechnol.", "date": "1995", "authors": "Nomura N., Yamada H., Horinouchi S., Beppu T., Matsubara N.", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "reference": [ { "type": "PubMed", "id": "7766086", "url": "https://glygen.org/publication/PubMed/7766086" } ] } ], "pathway": [ { "id": "rno:25728", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:25728", "resource": "KEGG Pathway" }, { "id": "R-RNO-3000480", "name": "Scavenging by Class A Receptors", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-3000480", "resource": "Reactome", "description": "Scavenging by Class A Receptors" }, { "id": "R-RNO-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-RNO-381426", "resource": "Reactome", "description": "Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)" }, { "id": "R-RNO-8957275", "name": "Post-translational protein phosphorylation", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-8957275", "resource": "Reactome", "description": "Post-translational protein phosphorylation" }, { "id": "R-RNO-8963888", "name": "Chylomicron assembly", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-8963888", "resource": "Reactome", "description": "Chylomicron assembly" }, { "id": "R-RNO-8963901", "name": "Chylomicron remodeling", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-8963901", "resource": "Reactome", "description": "Chylomicron remodeling" }, { "id": "R-RNO-8964026", "name": "Chylomicron clearance", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-8964026", "resource": "Reactome", "description": "Chylomicron clearance" }, { "id": "R-RNO-8964058", "name": "HDL remodeling", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-8964058", 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"https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "fatty acid homeostasis", "id": "GO:0055089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055089", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "cellular response to ethanol", "id": "GO:0071361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071361", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell proliferation", "id": "GO:0001937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001937", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "nitric oxide mediated signal transduction", "id": "GO:0007263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007263", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "regulation of Cdc42 protein signal transduction", "id": "GO:0032489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032489", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "negative regulation of blood vessel endothelial cell migration", "id": "GO:0043537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043537", "evidence": [ { "database": 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"evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "positive regulation of amyloid-beta clearance", "id": "GO:1900223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900223", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "positive regulation of phospholipid efflux", "id": "GO:1902995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902995", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "cholesterol catabolic process", "id": "GO:0006707", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031102", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle remodeling", "id": "GO:0034372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034372", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle clearance", "id": "GO:0034447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034447", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "triglyceride homeostasis", "id": "GO:0070328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070328", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042159", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "regulation of protein-containing complex assembly", "id": "GO:0043254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043254", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "positive regulation of endocytosis", "id": "GO:0045807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045807", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "artery morphogenesis", "id": "GO:0048844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048844", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "positive regulation of dendritic spine development", "id": 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"id": "GO:0015909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015909", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "protein import", "id": "GO:0017038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017038", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "virion assembly", "id": "GO:0019068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019068", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "cGMP-mediated signaling", "id": "GO:0019934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019934", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "positive regulation of low-density lipoprotein particle receptor catabolic process", "id": "GO:0032805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032805", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "locomotory exploration behavior", "id": "GO:0035641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035641", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "positive regulation by host of viral process", "id": "GO:0044794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044794", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "negative regulation of cholesterol biosynthetic process", "id": "GO:0045541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045541", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "regulation of protein 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"name": "positive regulation of lipid transport across blood-brain barrier", "id": "GO:1903002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903002", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "positive regulation of heparan sulfate binding", "id": "GO:1905855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905855", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "positive regulation of heparan sulfate proteoglycan binding", "id": "GO:1905860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905860", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "regulation of cellular response to very-low-density lipoprotein particle stimulus", "id": "GO:1905890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905890", "evidence": [ { 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"https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "lipoprotein particle", "id": "GO:1990777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990777", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprot/P02650" } ], "pmid": "" }, { "name": "late 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