{"Name":"Homozygous familial hypercholesterolemia","DiseaseID__c":"GARD:0010416","id":10416,"encodedName":"homozygous-familial-hypercholesterolemia","IsDeleted":false,"Disease_Name_Full__c":"Homozygous familial hypercholesterolemia","Xref_IDs__c":"238078005; C0342881; D000090542; MEDGEN:575266; MONDO:0018328; ORPHA:391665","USA_Estimate__c":"5,000","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":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"GARD:0010416","Disease_Description__c":"Familial hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood due to genetic changes in the LDLR gene. People with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease, as well as health problems related to the buildup of excess cholesterol in other tissues (e.g., in the tendons and skin). Familial hypercholesterolemia tends to be passed through families in an autosomal dominant fashion. There are other hereditary forms of hypercholesterolemia caused by genetic changes in the APOB, LDLRAP1, or PCSK9 gene. However, most cases of high cholesterol are not caused by a single inherited condition, but result from a combination of lifestyle choices and the effects of variations in many genes.","GARD_Name__c":"Homozygous familial hypercholesterolemia","GARD_Synonym__c":"familial homozygous hypercholesterolemia; familial hypercholesterolemia - homozygous; hofh","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Homozygous familial hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood due to genetic changes in the LDLR gene. People with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease, as well as health problems related to the buildup of excess cholesterol in other tissues (e.g., in the tendons and skin). Homozygous familial hypercholesterolemia tends to be passed through families in an autosomal dominant fashion. There are other hereditary forms of hypercholesterolemia caused by genetic changes in the APOB, LDLRAP1, or PCSK9 gene. However, most cases of high cholesterol are not caused by a single inherited condition, but result from a combination of lifestyle choices and the effects of variations in many genes.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:391665","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018328","ORPHANET_ID__c":"ORPHA:391665","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipercolesterolemia familiar homocigota","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hipercolesterolemia familiar homocigota","Spanish_GARD_Synonym__c":"hofh","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":"Homozygous familial hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood due to genetic changes in the LDLR gene. People with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease, as well as health problems related to the buildup of excess cholesterol in other tissues (e.g., in the tendons and skin). Homozygous familial hypercholesterolemia tends to be passed through families in an autosomal dominant fashion. There are other hereditary forms of hypercholesterolemia caused by genetic changes in the APOB, LDLRAP1, or PCSK9 gene. However, most cases of high cholesterol are not caused by a single inherited condition, but result from a combination of lifestyle choices and the effects of variations in many genes.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"familial homozygous hypercholesterolemia; familial hypercholesterolemia - homozygous; hofh","Name":"Homozygous familial hypercholesterolemia","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation of the National Lipid Association","Website__c":"https://www.learnyourlipids.com/"},{"Account_Name__c":"American Heart Association","Website__c":"https://www.heart.org"},{"Account_Name__c":"Family Heart Foundation","Website__c":"https://familyheart.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":"Neonatal","Provided_By__c":"ORPHA:391665"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010416","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK174884","Source__c":"Gene Review","Xref__c":"NBK174884"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000090542","Source__c":"C0342881; MONDO:0018328","Xref__c":"D000090542"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=575266","Source__c":"C0342881","Xref__c":"MEDGEN:575266"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=238078005","Source__c":"C0342881; MONDO:0018328","Xref__c":"238078005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0342881","Source__c":"C0342881","Xref__c":"C0342881"},{"URL__c":"https://www.orpha.net/en/disease/detail/391665","Source__c":"C0342881; MONDO:0018328; ORPHA:391665","Xref__c":"ORPHA:391665"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018328","Source__c":"GARD:0010416","Xref__c":"MONDO:0018328"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PCSK9","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pcsk9","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"LDLR","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ldlr","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"APOB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/apob","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"LDLRAP1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ldlrap1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:391665","HPO_Frequency__c":"Occasional (5-29%)","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:391665","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of stenosis of the renal artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001920","HPO_Synonym__c":"Narrowing of kidney artery","HPO_Name__c":"Renal artery stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391665","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001658","HPO_Synonym__c":"Heart attack; MI","HPO_Name__c":"Myocardial infarction","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391665","HPO_Frequency__c":"Always (100%)","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:391665","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391665","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A functional anomaly of the nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012638","HPO_Synonym__c":"Abnormality of nervous system physiology","HPO_Name__c":"Abnormal nervous system physiology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391665","HPO_Frequency__c":"Frequent (30-79%)","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:391665","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:391665","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030882","HPO_Synonym__c":"Coronary arterial dilatation; Coronary artery dilatation; Coronary artery ectasia","HPO_Name__c":"Coronary artery aneurysm","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391665","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:391665","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Calcification, that is, pathological deposition of calcium salts in the aorta.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004963","HPO_Name__c":"Calcification of the aorta","Feature_System__c":"Musculoskeletal System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391665","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A functional anomaly of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012373","HPO_Synonym__c":"Abnormal eye physiology","HPO_Name__c":"Abnormal eye physiology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391665","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The formation of the formation of fibrofatty lesions in the wall of an artery located in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007201","HPO_Name__c":"Cerebral artery atherosclerosis","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391665","HPO_Frequency__c":"Frequent (30-79%)","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:391665","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001653","HPO_Synonym__c":"Mitral incompetence; Mitral insufficiency; Mitral valve insufficiency; Mitral valve regurgitation","HPO_Name__c":"Mitral regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391665","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391665","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of an internal carotid artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:3000062","HPO_Synonym__c":"Abnormality of internal carotid artery","HPO_Name__c":"Abnormal internal carotid artery morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391665","HPO_Frequency__c":"Frequent (30-79%)","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, which increases the risk of myocardial ischemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001677","HPO_Synonym__c":"Coronary atherosclerosis; Coronary disease; Plaque build-up in arteries supplying blood to heart","HPO_Name__c":"Coronary artery atherosclerosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391665","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030148","HPO_Synonym__c":"Cardiac murmur; Cardiac murmurs; Heart murmur; Heart murmurs","HPO_Name__c":"Heart murmur","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391665","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An elevated lipid concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003077","HPO_Synonym__c":"Elevated lipids in blood","HPO_Name__c":"Hyperlipidemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:391665","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000991","HPO_Synonym__c":"Xanthomata; Yellow bumps of fatty deposits on skin","HPO_Name__c":"Xanthomatosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391665","HPO_Frequency__c":"Frequent (30-79%)","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:391665","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Steatosis in the myocardium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006693","HPO_Name__c":"Myocardial steatosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391665","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001138","HPO_Synonym__c":"Damaged optic nerve","HPO_Name__c":"Optic neuropathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391665","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001645","HPO_Synonym__c":"Premature sudden cardiac death; Sudden cardiac death","HPO_Name__c":"Sudden cardiac death","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391665","HPO_Frequency__c":"Always (100%)","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:391665","HPO_Frequency__c":"Frequent (30-79%)","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:391665","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005162","HPO_Synonym__c":"Impaired left ventricular function; Left ventricular dysfunction; Left ventricular failure; Left ventricular impairment; Left-sided heart failure","HPO_Name__c":"Abnormal left ventricular function","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391665","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002094","HPO_Synonym__c":"Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing","HPO_Name__c":"Dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391665","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004381","HPO_Name__c":"Supravalvular aortic stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391665","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Arteriosclerosis occurring at an age that is younger than usual.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005177","HPO_Name__c":"Premature arteriosclerosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391665","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004416","HPO_Synonym__c":"Premature atherosclerosis","HPO_Name__c":"Precocious atherosclerosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:391665","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the structure or form of the tendons, also often called sinews.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100261","HPO_Synonym__c":"Abnormal shape of tendon; Abnormality of the sinew","HPO_Name__c":"Abnormal tendon morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Endocrine","Inborn Errors of Metabolism"],"Specialist":["Genetics","Endocrine","Pediatrics"]},"synonyms":["familial homozygous hypercholesterolemia"," familial hypercholesterolemia - homozygous"," hofh"]}