{"Name":"Familial type 3 hyperlipoproteinemia","DiseaseID__c":"GARD:0006703","id":6703,"encodedName":"familial-type-3-hyperlipoproteinemia","IsDeleted":false,"Disease_Name_Full__c":"Familial type 3 hyperlipoproteinemia","Xref_IDs__c":"398796005; C0020479; C34710; DOID:3145; MEDGEN:9364; MONDO:0018473; OMIM:617347; ORPHA:412","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0018473","Disease_Description__c":"A rare combined hyperlipidemia (HLP type 3) characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of progressive atherosclerosis and premature cardiovascular disease.","GARD_Name__c":"Familial type 3 hyperlipoproteinemia","GARD_Synonym__c":"apolipoprotein e deficiency; apolipoprotein e, deficiency or defect of; broad beta disease; broad-beta disease; broad-betalipoproteinemia; carbohydrate induced hyperlipemia; dysbetalipoproteinemia; dysbetalipoproteinemia due to defect in apolipoprotein e-d; dyslipidaemia type 3; dyslipidemia type 3; familial dysbetalipoproteinemia; familial dyslipidemia type 3; familial hyperbeta- and prebetalipoproteinemia; familial hyperbetalipoproteinemia and hyperprebetalipoproteinemia; familial hypercholesterolemia with hyperlipemia; familial hyperlipoproteinemia type 3; floating beta disease; floating-betalipoproteinemia; fredrickson type iii hyperlipoproteinemia; hlp type 3; hyperlipemia with familial hypercholesterolemic xanthomatosis; hyperlipidemia type 3; hyperlipoproteinemia type 3; hyperlipoproteinemia type iii; primary dysbetalipoproteinemia; remnant disease; remnant hyperlipidemia; remnant hyperlipoproteinemia; remnant removal disease","Curated_Disease_Description_Source__c":"GARD:0006703","Curated_Disease_Description__c":"Dysbetalipoproteinemia is an inherited condition that disrupts the normal breakdown of fats (lipids) in the body, causing a large amount of certain fatty materials to build up in the body. Some individuals never have symptoms of this condition. Symptoms usually do not appear unless a second genetic or environmental factor adds to increased lipid levels. Symptoms may include: yellowish lipid-filled bumps on the skin (xanthomas), inflammation of the pancreas (pancreatitis), and a buildup of fat in the blood vessels (atherosclerosis). Dysbetalipoproteinemia may lead to the development of cardiovascular disease. This condition is caused by genetic changes in the APOE gene. The inheritance of this condition is considered to be complicated, as having genetic changes in the APOE gene often does not lead to the development of symptoms without the influence of other factors. Most people with symptoms of Dysbetalipoproteinemia have two genetic changes in the APOE gene, inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:412","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018473","ORPHANET_ID__c":"ORPHA:412","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Disbetalipoproteinemia","Spanish_Description_Source__c":"ORPHA:412","Spanish_Description__c":"Es una hiperlipidemia (HLP tipo 3) combinada poco frecuente caracterizada por niveles elevados de colesterol y triglicéridos transportados por lipoproteínas de densidad intermedia (IDL), y un elevado riesgo de ateroesclerosis progresiva y enfermedad cardiovascular temprana.","Spanish_Disease_Name__c":"disbetalipoproteinemia","Spanish_GARD_Synonym__c":"dislipidemia familiar tipo 3; enfermedad de beta ancha; hiperlipidemia tipo 3; hiperlipoproteinemia remanente; hiperlipoproteinemia tipo 3; hlp tipo 3","Category_Linearization__c":"ORPHA:97978","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Dysbetalipoproteinemia is an inherited condition that disrupts the normal breakdown of fats (lipids) in the body, causing a large amount of certain fatty materials to build up in the body. Some individuals never have symptoms of this condition. Symptoms usually do not appear unless a second genetic or environmental factor adds to increased lipid levels. Symptoms may include: yellowish lipid-filled bumps on the skin (xanthomas), inflammation of the pancreas (pancreatitis), and a buildup of fat in the blood vessels (atherosclerosis). Dysbetalipoproteinemia may lead to the development of cardiovascular disease. This condition is caused by genetic changes in the APOE gene. The inheritance of this condition is considered to be complicated, as having genetic changes in the APOE gene often does not lead to the development of symptoms without the influence of other factors. Most people with symptoms of Dysbetalipoproteinemia have two genetic changes in the APOE gene, inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0006703","GARD_Synonym__c":"apolipoprotein e deficiency; apolipoprotein e, deficiency or defect of; broad beta disease; broad-beta disease; broad-betalipoproteinemia; carbohydrate induced hyperlipemia; dysbetalipoproteinemia; dysbetalipoproteinemia due to defect in apolipoprotein e-d; dyslipidaemia type 3; dyslipidemia type 3; familial dysbetalipoproteinemia; familial dyslipidemia type 3; familial hyperbeta- and prebetalipoproteinemia; familial hyperbetalipoproteinemia and hyperprebetalipoproteinemia; familial hypercholesterolemia with hyperlipemia; familial hyperlipoproteinemia type 3; floating beta disease; floating-betalipoproteinemia; fredrickson type iii hyperlipoproteinemia; hlp type 3; hyperlipemia with familial hypercholesterolemic xanthomatosis; hyperlipidemia type 3; hyperlipoproteinemia type 3; hyperlipoproteinemia type iii; primary dysbetalipoproteinemia; remnant disease; remnant hyperlipidemia; remnant hyperlipoproteinemia; remnant removal disease","Name":"Familial type 3 hyperlipoproteinemia","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:412"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:412"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:412"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:412"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0020479"},{"Type__c":"GTR","Curie__c":"MEDGEN:C1862561"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006703","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/617347","Source__c":"C0020479; MONDO:0018473; ORPHA:412","Xref__c":"OMIM:617347"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=9364","Source__c":"C0020479","Xref__c":"MEDGEN:9364"},{"URL__c":"https://www.orpha.net/en/disease/detail/412","Source__c":"C0020479; MONDO:0018473; ORPHA:412","Xref__c":"ORPHA:412"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3145","Source__c":"MONDO:0018473","Xref__c":"DOID:3145"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=398796005","Source__c":"C0020479; MONDO:0018473","Xref__c":"398796005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0020479","Source__c":"C0020479","Xref__c":"C0020479"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018473","Source__c":"GARD:0006703","Xref__c":"MONDO:0018473"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C34710","Source__c":"C0020479","Xref__c":"C34710"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C006952","Source__c":"C0020479","Xref__c":"D006952"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"APOE","GHR_URL__c":"https://medlineplus.gov/genetics/gene/apoe","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:412","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A acute form of pancreatitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001735","HPO_Synonym__c":"Acute pancreatic inflammation; Pancreatitis, acute","HPO_Name__c":"Acute pancreatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:412","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Steatosis is a term used to denote lipid accumulation within hepatocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001397","HPO_Synonym__c":"Fatty infiltration of liver; Fatty liver; Liver steatosis; Steatosis","HPO_Name__c":"Hepatic steatosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:412","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001084","HPO_Synonym__c":"Anterior embryotoxon; Arcus lipoidis; Arcus senilis; Corneal annulus; Gerontoxon","HPO_Name__c":"Corneal arcus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:412","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevated concentration of low-density lipoprotein cholesterol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003141","HPO_Synonym__c":"Hyperbetalipoproteinemia; Increased beta-lipoproteins; Increased circulating LDL level; Increased circulating low-density lipoprotein cholesterol; Increased circulating low-density lipoprotein levels; Increased LDL cholesterol; Increased LDLc concentration; Increased plasma LDL levels","HPO_Name__c":"Increased LDL cholesterol concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:412","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Accumulation of substantial excess body fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001513","HPO_Synonym__c":"Having too much body fat; Obesity","HPO_Name__c":"Obesity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:412","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of xanthomata in the skin of the eyelid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001114","HPO_Synonym__c":"Fatty deposits in skin around the eyes; Fatty deposits on eyelids; Xanthelasma palpebrarum; Xanthoma","HPO_Name__c":"Xanthelasma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:412","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of atheromas or atherosclerotic plaques in the aorta.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012397","HPO_Synonym__c":"Atherosclerosis of the aorta; Atherosclerotic changes of aorta","HPO_Name__c":"Aortic atherosclerotic lesion","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:412","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002635","HPO_Name__c":"Type IV atherosclerotic lesion","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:412","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004943","HPO_Name__c":"Accelerated atherosclerosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:412","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004950","HPO_Synonym__c":"Peripheral artery disease","HPO_Name__c":"Peripheral arterial stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:412","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal fat accumulation in the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000799","HPO_Synonym__c":"Fatty kidney","HPO_Name__c":"Renal steatosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:412","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An decreased concentration of high-density lipoprotein cholesterol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003233","HPO_Synonym__c":"Decreased circulating high-density lipoprotein cholesterol; Decreased circulating high-density lipoprotein levels; Decreased HDL cholesterol; Hypoalphalipoproteinemia; Low HDL-cholesterol","HPO_Name__c":"Decreased HDL cholesterol concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:412","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001997","HPO_Synonym__c":"Gouty arthritis","HPO_Name__c":"Gout","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:412","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001681","HPO_Name__c":"Angina pectoris","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:412","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of cholesterol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003124","HPO_Synonym__c":"Elevated serum cholesterol; Elevated total cholesterol; Increased total cholesterol","HPO_Name__c":"Hypercholesterolemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:412","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Deficiency of thyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000821","HPO_Synonym__c":"Low T4; Underactive thyroid","HPO_Name__c":"Hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:412","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood is extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000660","HPO_Name__c":"Lipemia retinalis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:412","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:412","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A group of abnormalities characterized by hyperglycemia and glucose intolerance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000819","HPO_Name__c":"Diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:412","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000951","HPO_Synonym__c":"Abnormality of the skin; Dermatopathy; Dermopathy","HPO_Name__c":"Abnormality of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:412","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025530","HPO_Synonym__c":"Xanthoma palmare striatum; Xanthoma striatum palmare","HPO_Name__c":"Xanthomas of the palmar creases","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:412","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001013","HPO_Name__c":"Eruptive xanthomas","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:412","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010874","HPO_Synonym__c":"Tendon xanthomas","HPO_Name__c":"Tendon xanthomatosis","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:412","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005181","HPO_Synonym__c":"Premature coronary artery disease","HPO_Name__c":"Premature coronary artery atherosclerosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:412","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031290","HPO_Name__c":"Tuberous xanthoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:412","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the level of triglycerides in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002155","HPO_Synonym__c":"Increased circulating Tg levels; Increased plasma Tg levels; Increased plasma triglycerides; Increased serum triglycerides; Increased triglycerides","HPO_Name__c":"Hypertriglyceridemia","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Endocrine","Inborn Errors of Metabolism"],"Specialist":["Genetics","Endocrine","Pediatrics"]},"synonyms":["apolipoprotein e deficiency"," apolipoprotein e, deficiency or defect of"," broad beta disease"," broad-beta disease"," broad-betalipoproteinemia"," carbohydrate induced hyperlipemia"," dysbetalipoproteinemia"," dysbetalipoproteinemia due to defect in apolipoprotein e-d"," dyslipidaemia type 3"," dyslipidemia type 3"," familial dysbetalipoproteinemia"," familial dyslipidemia type 3"," familial hyperbeta- and prebetalipoproteinemia"," familial hyperbetalipoproteinemia and hyperprebetalipoproteinemia"," familial hypercholesterolemia with hyperlipemia"," familial hyperlipoproteinemia type 3"," floating beta disease"," floating-betalipoproteinemia"," fredrickson type iii hyperlipoproteinemia"," hlp type 3"," hyperlipemia with familial hypercholesterolemic xanthomatosis"," hyperlipidemia type 3"," hyperlipoproteinemia type 3"," hyperlipoproteinemia type iii"," primary dysbetalipoproteinemia"," remnant disease"," remnant hyperlipidemia"," remnant hyperlipoproteinemia"," remnant removal disease"]}