Adams¨COliver syndrome (AOS) is a rare congenital disorder characterized by defects of the scalp and cranium (cutis aplasia congenita), transverse defects of the limbs, and mottling of the skin.

Reference
Wiki: Adams-Oliver syndrome

    An aneurysm is an outward bulging, likened to a bubble or balloon, caused by a localized, abnormal, weak spot on a blood vessel wall. Aneurysms may be a result of a hereditary condition or an acquired disease. Aneurysms can also be a nidus (starting point) for clot formation (thrombosis) and embolization. As an aneurysm increases in size, the risk of rupture, which leads to uncontrolled bleeding, increases. Although they may occur in any blood vessel, particularly lethal examples include aneurysms of the circle of Willis in the brain, aortic aneurysms affecting the thoracic aorta, and abdominal aortic aneurysms. Aneurysms can arise in the heart itself following a heart attack, including both ventricular and atrial septal aneurysms. There are congenital atrial septal aneurysms, a rare heart defect.

Reference
Wiki: Aneurysm

    An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes.

Reference
DiseaseOntology: Angioedema hereditary type II

    An aortic aneurysm is an enlargement (dilatation) of the aorta to greater than 1.5 times normal size. They usually cause no symptoms except when ruptured. Occasionally, there may be abdominal, back, or leg pain. The prevalence of abdominal aortic aneurysm ("AAA") has been reported to range from 2 to 12% and is found in about 8% of men more than 65 years of age. The mortality rate attributable to AAA is about 15,000 per year in the United States and 6,000 to 8,000 per year in the United Kingdom and Ireland. Between 2001 and 2006, there were approximately 230,000 AAA surgical repairs performed on Medicare patients in the United States. The etiology remains an area of active research. Known causes include trauma, infection, and inflammatory disorders. Risk factors include cigarette smoking, advanced age, dyslipidemia, hypertension, and coronary artery disease. The pathophysiology of the disease is related to an initial arterial insult causing a cascade of inflammation and extracellular matrix protein breakdown by proteinases leading to arterial wall weakening. They are most commonly located in the abdominal aorta, but can also be located in the thoracic aorta. Aortic aneurysms result from a weakness in the wall of the aorta and increase the risk of aortic rupture. When rupture occurs, massive internal bleeding results and, unless treated immediately, shock and death can occur. Screening with ultrasound is indicated in those at high risk. Prevention is by decreasing risk factors, such as smoking, and treatment is either by open or endovascular surgery. Aortic aneurysms resulted in about 152,000 deaths worldwide in 2013, up from 100,000 in 1990.

Reference
Wiki: Aortic aneurysm

    Calcification is the accumulation of calcium salts in a body tissue. It normally occurs in the formation of bone, but calcium can be deposited abnormally in soft tissue,[1][2] causing it to harden. Calcifications may be classified on whether there is mineral balance or not, and the location of the calcification.[3] Calcification may also refer to the processes of normal mineral deposition in biological systems, such as the formation of stromatolites or mollusc shells (see Biomineralization).

Reference
Wiki: Arterial calcification

    Generalized arterial calcification of infancy (GACI) is an extremely rare genetic disorder. It is caused by mutations in the ENPP1 gene in 75% of the subjects or in mutations in the ABCC6 genes in 10% of patients. However, sometimes individuals affected with GACI do not have mutations in the ENPP1 or ABCC6 gene and in those cases the cause of the disorder is unknown. The condition usually affects infants during the first 6 months of life. This condition is inherited as an autosomal recessive pattern. It is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall. Unfortunately, many infants die of vaso-occlusive disease, especially of the coronary arteries. There are 2 forms of GACI that can be indicated on a genetic test: GACI Type 1 is caused by mutations in the ENPP1 gene. It is called ENPP1 Deficiency. Patients with the ENPP1 Deficiency are at risk of developing Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2). ARHR2 can cause weakening in the bones, pain in bones and joints bone deformities (knocked knees, bowed legs), dental problems, calcification of ligaments and short stature. With proper treatment the bones can be strengthened and side effects minimized. GACI Type 2 is caused by mutations in the ABCC6 gene. It is called ABCC6 Deficiency. As children affected by GACI due to ABCC6 Deficiency get older, they can develop characteristics similar to pseudoxanthoma elasticum (PXE). This condition affects the elastic tissue of the skin, the eye, cardiovascular and gastrointestinal systems.

Reference
Wiki: Arterial calcification of infancy

    An artery is a blood vessel in humans and most other animals that takes oxygenated blood away from the heart in the systemic circulation to one or more parts of the body. Exceptions that carry deoxygenated blood are the pulmonary arteries in the pulmonary circulation that carry blood to the lungs for oxygenation, and the umbilical arteries in the fetal circulation that carry deoxygenated blood to the placenta. It consists of a multi-layered artery wall wrapped into a tube-shaped channel.

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Wiki: Arterial lesions

    Atherosclerosis[a] is a pattern of the disease arteriosclerosis,[8] characterized by development of abnormalities called lesions in walls of arteries. These lesions may lead to narrowing of the arterial walls due to buildup of atheromatous plaques.[9][10] At onset there are usually no symptoms, but if they develop, symptoms generally begin around middle age.[1] In severe cases, it can result in coronary artery disease, stroke, peripheral artery disease, or kidney disorders, depending on which body part(s) the affected arteries are located in the body.[1]

Reference
Wiki: Atherogenesis

    Atherosclerosis is a pattern of the disease arteriosclerosis, characterized by development of abnormalities called lesions in walls of arteries. These lesions may lead to narrowing of the arterial walls due to buildup of atheromatous plaques. At onset there are usually no symptoms, but if they develop, symptoms generally begin around middle age. In severe cases, it can result in coronary artery disease, stroke, peripheral artery disease, or kidney disorders, depending on which body part(s) the affected arteries are located in the body. The exact cause of atherosclerosis is unknown and is proposed to be multifactorial. Risk factors include abnormal cholesterol levels, elevated levels of inflammatory biomarkers, high blood pressure, diabetes, smoking (both active and passive smoking), obesity, genetic factors, family history, lifestyle habits, and an unhealthy diet. Plaque is made up of fat, cholesterol, calcium, and other substances found in the blood. The narrowing of arteries limits the flow of oxygen-rich blood to parts of the body. Diagnosis is based upon a physical exam, electrocardiogram, and exercise stress test, among others. Prevention guidelines include, eating a healthy diet, exercising, not smoking, and maintaining normal body weight. Treatment of established disease may include medications to lower cholesterol such as statins, blood pressure medication, and anticoagulant therapies to reduce the risk of blood clot formation. As the disease state progresses more invasive strategies are applied such as percutaneous coronary intervention, coronary artery bypass graft, or carotid endarterectomy. Genetic factors are also strongly implicated in the disease process; it is not entirely based on lifestyle choices. Atherosclerosis generally starts when a person is young and worsens with age. Almost all people are affected to some degree by the age of 65. It is the number one cause of death and disability in developed countries. Though it was first described in 1575, there is evidence suggesting that this disease state is genetically inherent in the broader human population, with its origins tracing back to genetic mutations that may have occurred more than two million years ago during the evolution of hominin ancestors of modern human beings.

Reference
Wiki: Atherosclerosis

    Atherosclerosis[a] is a pattern of the disease arteriosclerosis,[8] characterized by development of abnormalities called lesions in walls of arteries. These lesions may lead to narrowing of the arterial walls due to buildup of atheromatous plaques.[9][10] At onset there are usually no symptoms, but if they develop, symptoms generally begin around middle age.[1] In severe cases, it can result in coronary artery disease, stroke, peripheral artery disease, or kidney disorders, depending on which body part(s) the affected arteries are located in the body.[1]

Reference
Wiki: Atherosclerotic coronary arteries

    Beh?et's disease (BD) is a type of inflammatory disorder which affects multiple parts of the body. The most common symptoms include painful sores on the mucous membranes of the mouth and other parts of the body, inflammation of parts of the eye, and arthritis. The sores can last from a few days, up to a week or more. Less commonly there may be inflammation of the brain or spinal cord, blood clots, aneurysms, or blindness. Often, the symptoms come and go. The cause is unknown. It is believed to be partly genetic. Beh?et's is not contagious. Diagnosis is based on at least three episodes of mouth sores in a year, together with at least two of the following: genital sores, eye inflammation, skin sores, a positive skin prick test. There is no cure. Treatments may include immunosuppressive medication such as corticosteroids and lifestyle changes. Lidocaine mouthwash may help with the pain. Colchicine may decrease the frequency of attacks. While rare in the United States and Europe, it is more common in the Middle East and Asia. In Turkey, for example, about 2 per 1,000 are affected. Onset is usually in a person's twenties or forties. The disease was initially described by Turkish dermatologist Hulusi Beh?et in 1937.

Reference
Wiki: Autoinflammatory disease, systemic, with vasculitis

    Aortic stenosis is most commonly caused by age-related progressive calcific aortic valve disease (CAVD) (>50% of cases), with a mean age of 65 to 70 years. CAVD is the build-up of calcium on the cusps of the valve, and this calcification causes hardening and stenosis of the valve.[22] Another major cause of aortic stenosis is the calcification of a congenital bicuspid aortic valve or, more rarely, a congenital unicuspid aortic valve. Those with unicuspid aortic valves typically need intervention when very young, often as a newborn. While those with congenital bicuspid aortic valve make up 30-40% of those presenting during adulthood[23] and typically presenting earlier (ages 40+ to 50+) than those with tricuspid aortic valves (65+).[7]

Reference
Wiki: Calcific aortic valve disease

    The circulatory system is a system of organs that includes the heart, blood vessels, and blood which is circulated throughout the entire body of a human or other vertebrate. It includes the cardiovascular system, or vascular system, that consists of the heart and blood vessels (from Greek kardia meaning heart, and from Latin vascula meaning vessels). The circulatory system has two divisions, a systemic circulation or circuit, and a pulmonary circulation or circuit. Some sources use the terms cardiovascular system and vascular system interchangeably with circulatory system. The network of blood vessels are the great vessels of the heart including large elastic arteries, and large veins; other arteries, smaller arterioles, capillaries that join with venules (small veins), and other veins. The circulatory system is closed in vertebrates, which means that the blood never leaves the network of blood vessels. Some invertebrates such as arthropods have an open circulatory system. Diploblasts such as sponges, and comb jellies lack a circulatory system. Blood is a fluid consisting of plasma, red blood cells, white blood cells, and platelets; it is circulated around the body carrying oxygen and nutrients to the tissues and collecting and disposing of waste materials. Circulated nutrients include proteins and minerals and other components include hemoglobin, hormones, and gases such as oxygen and carbon dioxide. These substances provide nourishment, help the immune system to fight diseases, and help maintain homeostasis by stabilizing temperature and natural pH. In vertebrates, the lymphatic system is complementary to the circulatory system. The lymphatic system carries excess plasma (filtered from the circulatory system capillaries as interstitial fluid between cells) away from the body tissues via accessory routes that return excess fluid back to blood circulation as lymph. The lymphatic system is a subsystem that is essential for the functioning of the blood circulatory system; without it the blood would become depleted of fluid. The lymphatic system also works with the immune system. The circulation of lymph takes much longer than that of blood and, unlike the closed (blood) circulatory system, the lymphatic system is an open system. Some sources describe it as a secondary circulatory system. The circulatory system can be affected by many cardiovascular diseases. Cardiologists are medical professionals which specialise in the heart, and cardiothoracic surgeons specialise in operating on the heart and its surrounding areas. Vascular surgeons focus on disorders of the blood vessels, and lymphatic vessels.

Reference
Wiki: Cardiovascular

    Cardiovascular disease (CVD) is any disease involving the heart or blood vessels. CVDs constitute a class of diseases that includes: coronary artery diseases (e.g. angina, heart attack), heart failure, hypertensive heart disease, rheumatic heart disease, cardiomyopathy, arrhythmia, congenital heart disease, valvular heart disease, carditis, aortic aneurysms, peripheral artery disease, thromboembolic disease, and venous thrombosis. The underlying mechanisms vary depending on the disease. It is estimated that dietary risk factors are associated with 53% of CVD deaths. Coronary artery disease, stroke, and peripheral artery disease involve atherosclerosis. This may be caused by high blood pressure, smoking, diabetes mellitus, lack of exercise, obesity, high blood cholesterol, poor diet, excessive alcohol consumption, and poor sleep, among other things. High blood pressure is estimated to account for approximately 13% of CVD deaths, while tobacco accounts for 9%, diabetes 6%, lack of exercise 6%, and obesity 5%. Rheumatic heart disease may follow untreated strep throat. It is estimated that up to 90% of CVD may be preventable. Prevention of CVD involves improving risk factors through: healthy eating, exercise, avoidance of tobacco smoke and limiting alcohol intake. Treating risk factors, such as high blood pressure, blood lipids and diabetes is also beneficial. Treating people who have strep throat with antibiotics can decrease the risk of rheumatic heart disease. The use of aspirin in people who are otherwise healthy is of unclear benefit. Cardiovascular diseases are the leading cause of death worldwide except Africa. Together CVD resulted in 17.9 million deaths (32.1%) in 2015, up from 12.3 million (25.8%) in 1990. Deaths, at a given age, from CVD are more common and have been increasing in much of the developing world, while rates have declined in most of the developed world since the 1970s. Coronary artery disease and stroke account for 80% of CVD deaths in males and 75% of CVD deaths in females. Most cardiovascular disease affects older adults. In the United States 11% of people between 20 and 40 have CVD, while 37% between 40 and 60, 71% of people between 60 and 80, and 85% of people over 80 have CVD. The average age of death from coronary artery disease in the developed world is around 80, while it is around 68 in the developing world. CVD is typically diagnosed seven to ten years earlier in men than in women.:?48?

Reference
Wiki: Cardiovascular phenotype

    CADASIL or CADASIL syndrome, involving cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, is the most common form of hereditary stroke disorder, and is thought to be caused by mutations of the Notch 3 gene on chromosome 19.[1] The disease belongs to a family of disorders called the leukodystrophies. The most common clinical manifestations are migraine headaches and transient ischemic attacks or strokes, which usually occur between 40 and 50 years of age, although MRI is able to detect signs of the disease years prior to clinical manifestation of disease.[2][3]

Reference
Wiki: Cerebral arteriopathy

    A cerebral arteriovenous malformation (cerebral AVM, CAVM, cAVM, brain AVM, or BAVM) is an abnormal connection between the arteries and veins in the brain¡ªspecifically, an arteriovenous malformation in the cerebrum.

Reference
Wiki: Cerebral arteriovenous malformation

    Cavernous hemangioma, also called cavernous angioma, venous malformation, or cavernoma, is a type of venous malformation due to endothelial dysmorphogenesis from a lesion which is present at birth. A cavernoma in the brain is called a cerebral cavernous malformation or CCM. Despite its designation as a hemangioma, a cavernous hemangioma is not a tumor as it does not display endothelial hyperplasia. The abnormal tissue causes a slowing of blood flow through the cavities, or "caverns". The blood vessels do not form the necessary junctions with surrounding cells, and the structural support from the smooth muscle is hindered, causing leakage into the surrounding tissue. It is the leakage of blood, referred to as hemorrhage, that causes a variety of symptoms known to be associated with the condition.

Reference
Wiki: Cerebral cavernous malformation

    A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits.

Reference
DiseaseOntology: Char syndrome

    A thoracic aortic aneurysm is an aortic aneurysm that presents primarily in the thorax. A thoracic aortic aneurysm is the "ballooning" of the upper aspect of the aorta, above the diaphragm. Untreated or unrecognized they can be fatal due to dissection or "popping" of the aneurysm leading to nearly instant death. Thoracic aneurysms are less common than an abdominal aortic aneurysm. However, a syphilitic aneurysm is more likely to be a thoracic aortic aneurysm than an abdominal aortic aneurysm. This condition is commonly treated via a specialized multidisciplinary approach with both vascular surgeons and cardiac surgeons.

Reference
Wiki: Congenital aneurysm of ascending aorta

    An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.

Reference
DiseaseOntology: Coronary artery disease

    In vascular diseases, endothelial dysfunction is a systemic pathological state of the endothelium. The main cause of endothelial dysfunction is impaired bioavailability of nitric oxide,[1] In addition to acting as a semipermeable membrane, the endothelium is responsible for maintaining vascular tone and regulating oxidative stress by releasing mediators, such as nitric oxide, prostacyclin and endothelin, and by controlling local angiotensin-II activity.[2][3]

Reference
Wiki: Endothelial dysfunction

    A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall.

Reference
DiseaseOntology: Extracoronary vascular calcification

    Familial thoracic aortic aneurysm is an autosomal dominant disorder of large arteries. There is an association between familial thoracic aortic aneurysm and Marfan syndrome as well as other hereditary connective tissue disorders.

Reference
Wiki: Familial thoracic aortic aneurysm

    Aortic dissection (AD) occurs when an injury to the innermost layer of the aorta allows blood to flow between the layers of the aortic wall, forcing the layers apart. In most cases, this is associated with a sudden onset of severe chest or back pain, often described as "tearing" in character. Vomiting, sweating, and lightheadedness may also occur. Damage to other organs may result from the decreased blood supply, such as stroke, lower extremity ischemia, or mesenteric ischemia. Aortic dissection can quickly lead to death from insufficient blood flow to the heart or complete rupture of the aorta. AD is more common in those with a history of high blood pressure; a number of connective tissue diseases that affect blood vessel wall strength including Marfan syndrome and Ehlers¨CDanlos syndrome; a bicuspid aortic valve; and previous heart surgery. Major trauma, smoking, cocaine use, pregnancy, a thoracic aortic aneurysm, inflammation of arteries, and abnormal lipid levels are also associated with an increased risk. The diagnosis is suspected based on symptoms with medical imaging, such as CT scan, MRI, or ultrasound used to confirm and further evaluate the dissection. The two main types are Stanford type A, which involves the first part of the aorta, and type B, which does not. Prevention is by blood pressure control and smoking cessation. Management of AD depends on the part of the aorta involved. Dissections that involve the first part of the aorta (adjacent to the heart) usually require surgery. Surgery may be done either by an opening in the chest or from inside the blood vessel. Dissections that involve the second part of the aorta can typically be treated with medications that lower blood pressure and heart rate, unless there are complications which then require surgical correction. AD is relatively rare, occurring at an estimated rate of three per 100,000 people per year. It is more common in men than women. The typical age at diagnosis is 63, with about 10% of cases occurring before the age of 40. Without treatment, about half of people with Stanford type A dissections die within three days and about 10% of people with Stanford type B dissections die within one month. The first case of AD was described in the examination of King George II of Great Britain following his death in 1760. Surgery for AD was introduced in the 1950s by Michael E. DeBakey.

Reference
Wiki: Familial thoracic aortic aneurysm and aortic dissection

    Fibromuscular dysplasia (FMD) is a non-atherosclerotic, non-inflammatory disease of the blood vessels that causes abnormal growth within the wall of an artery.[1] FMD has been found in nearly every arterial bed in the body, although the most commonly affected are the renal and carotid arteries.[1][2][3]

Reference
Wiki: Fibromuscular dysplasia

    A cardiovascular organ benign neoplasm that has_material_basis_in endothelial cells that line blood vessels and is characterized by increased number of normal or abnormal vessels filled with blood.

Reference
DiseaseOntology: Hemangioma

    Hereditary angioedema (HAE) is a disorder that results in recurrent attacks of severe swelling. The swelling most commonly affects the arms, legs, face, intestinal tract, and airway. If the intestinal tract is affected, abdominal pain and vomiting may occur. Swelling of the airway can result in its obstruction and trouble breathing. Without preventive treatment, attacks typically occur every two weeks and last for a few days. There are three main types of HAE. Types I and II are caused by a mutation in the SERPING1 gene, which encodes the C1 inhibitor protein, while type III is often due to a mutation in the F12 (factor XII) gene. The result is increased levels of bradykinin, which promotes swelling. The condition may be inherited in an autosomal dominant manner or occur as a new mutation. Triggers for an attack may include minor trauma or stress, but attacks often occur without any obvious preceding event. Diagnosis of types I and II is based on measurement of C4 and C1-inhibitor levels. Management of HAE involves efforts to prevent attacks and the treatment of attacks if they occur. During an attack, supportive care such as intravenous fluids and airway support may be required. C1 inhibitor medications can be used for both prevention and treatment, while ecallantide and icatibant can be used to treat acute attacks. HAE affects approximately 1 in 50,000 people. The condition is typically first noticed in childhood. Type I and II affected females and males equally, while type III affects females more often than males. When the airway is involved, without treatment, the risk of death is about 25%. With treatment, outcomes are generally good. The condition was first described in 1888 by Canadian physician William Osler.

Reference
Wiki: Hereditary angioedema

    The porphyrias are diseases caused by defects in heme synthesis, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver.

Reference
OMIM: Hypercholesterolemia

    Hypertension, also known as high blood pressure, is a long-term medical condition in which the blood pressure in the arteries is persistently elevated. High blood pressure usually does not cause symptoms itself. It is, however, a major risk factor for stroke, coronary artery disease, heart failure, atrial fibrillation, peripheral arterial disease, vision loss, chronic kidney disease, and dementia. Hypertension is a major cause of premature death worldwide. High blood pressure is classified as primary (essential) hypertension or secondary hypertension. About 90¨C95% of cases are primary, defined as high blood pressure due to nonspecific lifestyle and genetic factors. Lifestyle factors that increase the risk include excess salt in the diet, excess body weight, smoking, physical inactivity and alcohol use. The remaining 5¨C10% of cases are categorized as secondary high blood pressure, defined as high blood pressure due to a clearly identifiable cause, such as chronic kidney disease, narrowing of the kidney arteries, an endocrine disorder, or the use of birth control pills. Blood pressure is classified by two measurements, the systolic (first number) and diastolic (second number) pressures. For most adults, normal blood pressure at rest is within the range of 100¨C130 millimeters mercury (mmHg) systolic and 60¨C80 mmHg diastolic. For most adults, high blood pressure is present if the resting blood pressure is persistently at or above 130/80 or 140/90 mmHg. Different numbers apply to children. Ambulatory blood pressure monitoring over a 24-hour period appears more accurate than office-based blood pressure measurement. Hypertension is around twice as common in diabetics. Lifestyle changes and medications can lower blood pressure and decrease the risk of health complications. Lifestyle changes include weight loss, physical exercise, decreased salt intake, reducing alcohol intake, and a healthy diet. If lifestyle changes are not sufficient, then blood pressure medications are used. Up to three medications taken concurrently can control blood pressure in 90% of people. The treatment of moderately high arterial blood pressure (defined as >160/100 mmHg) with medications is associated with an improved life expectancy. The effect of treatment of blood pressure between 130/80 mmHg and 160/100 mmHg is less clear, with some reviews finding benefit and others finding unclear benefit. High blood pressure affects between 16 and 37% of the population globally. In 2010 hypertension was believed to have been a factor in 17.8% of all deaths (9.4 million globally).

Reference
Wiki: Hypertension

    Atherosclerosis[a] is a pattern of the disease arteriosclerosis,[8] characterized by development of abnormalities called lesions in walls of arteries. These lesions may lead to narrowing of the arterial walls due to buildup of atheromatous plaques.[9][10] At onset there are usually no symptoms, but if they develop, symptoms generally begin around middle age.[1] In severe cases, it can result in coronary artery disease, stroke, peripheral artery disease, or kidney disorders, depending on which body part(s) the affected arteries are located in the body.[1]

Reference
Wiki: Hypothyroid atherosclerosis

    The middle cerebral artery (MCA) is one of the three major paired cerebral arteries that supply blood to the cerebrum. The MCA arises from the internal carotid artery and continues into the lateral sulcus where it then branches and projects to many parts of the lateral cerebral cortex. It also supplies blood to the anterior temporal lobes and the insular cortices. The left and right MCAs rise from trifurcations of the internal carotid arteries and thus are connected to the anterior cerebral arteries and the posterior communicating arteries, which connect to the posterior cerebral arteries. The MCAs are not considered a part of the Circle of Willis.

Reference
Wiki: Middle cerebral artery occlusion

    Moyamoya disease is a disease in which certain arteries in the brain are constricted. Blood flow is blocked by constriction and blood clots (thrombosis). A collateral circulation develops around the blocked vessels to compensate for the blockage, but the collateral vessels are small, weak, and prone to bleeding, aneurysm and thrombosis. On conventional angiography, these collateral vessels have the appearance of a "puff of smoke" (described as "¤â¤ä¤â¤ä (moyamoya)" in Japanese). When moyamoya is diagnosed by itself, with no underlying correlational conditions, it is diagnosed as moyamoya disease. This is also the case when the arterial constriction and collateral circulation are bilateral. Moyamoya syndrome is unilateral arterial constriction, or occurs when one of the several specified conditions is also present. This may also be considered as moyamoya being secondary to the primary condition. Mainly, occlusion of the distal internal carotid artery occurs. On angiography, a "puff of smoke" appearance is seen, and the treatment of choice is surgical bypass.

Reference
Wiki: Moyamoya disease

    Neointimal hyperplasia refers to proliferation and migration of vascular smooth muscle cells primarily in the tunica intima, resulting in the thickening of arterial walls and decreased arterial lumen space.[1][2] Neointimal hyperplasia is the major cause of restenosis after percutaneous coronary interventions such as stenting or angioplasty.[1] The term neointima is used because the cells in the hyperplastic regions of the vascular wall have histological characteristics of both intima and normal artery cells.[2]

Reference
Wiki: Neointimal hyperplasia

    Polyarteritis nodosa (PAN) is a systemic necrotizing inflammation of blood vessels (vasculitis) affecting medium-sized muscular arteries, typically involving the arteries of the kidneys and other internal organs but generally sparing the lungs' circulation. Small aneurysms are strung like the beads of a rosary, therefore making this "rosary sign" an important diagnostic feature of the vasculitis. PAN is sometimes associated with infection by the hepatitis B or hepatitis C virus. The condition may be present in infants. PAN is a rare disease. With treatment, five-year survival is 80%; without treatment, five-year survival is 13%. Death is often a consequence of kidney failure, myocardial infarction, or stroke.

Reference
Wiki: Polyarteritis nodosa

    Pulmonary hypertension (PH or PHTN) is a condition of increased blood pressure in the arteries of the lungs.[7] Symptoms include shortness of breath, fainting, tiredness, chest pain, swelling of the legs, and a fast heartbeat.[7][2] The condition may make it difficult to exercise.[7] Onset is typically gradual.[8] According to the definition at the 6th World Symposium of Pulmonary Hypertension in 2018, a patient is deemed to have pulmonary hypertension if the pulmonary mean arterial pressure is greater than 20mmHg at rest, revised down from a purely arbitrary 25mmHg, and pulmonary vascular resistance (PVR) greater than 3 Wood units.

Reference
Wiki: Pulmonary arterial hypertension

    The RASopathies are a group of developmental syndromes caused by germline mutations in genes belonging to the Ras/MAPK pathway. Common features include intellectual disability, congenital heart defects, skin abnormalities, and craniofacial abnormalities.

Reference
Wiki: Rasopathy

    An autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation that has_material_basis_in heterozygous gain of function mutation in the TMEM173 gene on chromosome 5q31.

Reference
DiseaseOntology: STING-associated vasculopathy with onset in infancy

    Lee et al. (2016) reported a family segregating autosomal dominant thoracic aortic aneurysm, in which the proband was a 39-year-old man who had a 10.5-cm ascending aortic aneurysm with contained rupture at age 19 years. He was 6 feet 8 inches tall and exhibited features of Marfan syndrome, including pectus excavatum, scoliosis, positive thumb sign, high-arched palate, dental crowding, and skin striae. The proband's mother, who had ascending aortic aneurysm with dissection at age 52 years, had also undergone repair of an abdominal hernia at age 34 and had myopia. The proband had 2 affected male cousins, 1 of whom had aortic arch dissection at age 41 years and also had an aneurysm of the hepatic artery; the other, who was 6 feet 5 inches tall, had an infrarenal abdominal aneurysm. The cousins' 73-year-old mother had normal serial echocardiograms, and arterial tortuosity seen on total body magnetic resonance angiography was deemed to be 'compatible with aging.' The maternal grandfather, who died at age 60 with emphysema, was reported to have had pectus excavatum and scoliosis. Histopathologic analysis of resected aortic tissue from both the proband and his mother showed cystic medial necrosis and fragmented external elastic lamella, with a disorganized appearance of collagen and elastic lamellae.

Reference
OMIM: Thoracic aortic aneurysms and dissection

    In vascular diseases, endothelial dysfunction is a systemic pathological state of the endothelium. The main cause of endothelial dysfunction is impaired bioavailability of nitric oxide,[1] In addition to acting as a semipermeable membrane, the endothelium is responsible for maintaining vascular tone and regulating oxidative stress by releasing mediators, such as nitric oxide, prostacyclin and endothelin, and by controlling local angiotensin-II activity.[2][3]

Reference
Wiki: Vascular dysfunction

    Inflammation (from Latin: inflammatio) is part of the biological response of body tissues to harmful stimuli, such as pathogens, damaged cells, or irritants.[1][2] The five cardinal signs are heat, pain, redness, swelling, and loss of function (Latin calor, dolor, rubor, tumor, and functio laesa).

Reference
Wiki: Vascular inflammation

    A vascular disease that is characterized by inflammation of the blood vessels.

Reference
DiseaseOntology: Vasculitis