Condition | Indicated | Relationship Strength | Studies | Trials |
alpha-Galactosidase A Deficiency [description not available] | 0 | 19.88 | 224 | 40 |
Cardiomyopathies, Primary [description not available] | 0 | 5 | 5 | 0 |
Fabry Disease An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders. | 0 | 19.88 | 224 | 40 |
Cardiomyopathies A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS). | 0 | 5 | 5 | 0 |
Ache [description not available] | 0 | 6.65 | 8 | 1 |
Pain An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS. | 0 | 6.65 | 8 | 1 |
2019 Novel Coronavirus Disease [description not available] | 0 | 2.76 | 2 | 0 |
Allergic Reaction [description not available] | 0 | 2.6 | 1 | 0 |
Hypersensitivity Altered reactivity to an antigen, which can result in pathologic reactions upon subsequent exposure to that particular antigen. | 0 | 2.6 | 1 | 0 |
Genetic Predisposition [description not available] | 0 | 4.07 | 2 | 0 |
Kidney Diseases Pathological processes of the KIDNEY or its component tissues. | 0 | 14.79 | 32 | 22 |
Infections, Coronavirus [description not available] | 0 | 2.25 | 1 | 0 |
Obstructive Lung Diseases [description not available] | 0 | 2.5 | 2 | 0 |
Lung Diseases, Obstructive Any disorder marked by obstruction of conducting airways of the lung. AIRWAY OBSTRUCTION may be acute, chronic, intermittent, or persistent. | 0 | 2.5 | 2 | 0 |
Pneumonia, Viral Inflammation of the lung parenchyma that is caused by a viral infection. | 0 | 2.25 | 1 | 0 |
Coronavirus Infections Virus diseases caused by the CORONAVIRUS genus. Some specifics include transmissible enteritis of turkeys (ENTERITIS, TRANSMISSIBLE, OF TURKEYS); FELINE INFECTIOUS PERITONITIS; and transmissible gastroenteritis of swine (GASTROENTERITIS, TRANSMISSIBLE, OF SWINE). | 0 | 2.25 | 1 | 0 |
Cancer of Skin [description not available] | 0 | 2.79 | 3 | 0 |
Angiokeratoma A vascular, horny neoplasm of the skin characterized by TELANGIECTASIS and secondary epithelial changes including acanthosis and hyperkeratosis. | 0 | 2.77 | 3 | 0 |
Skin Neoplasms Tumors or cancer of the SKIN. | 0 | 2.79 | 3 | 0 |
Adverse Drug Event [description not available] | 0 | 2.25 | 1 | 0 |
Drug-Related Side Effects and Adverse Reactions Disorders that result from the intended use of PHARMACEUTICAL PREPARATIONS. Included in this heading are a broad variety of chemically-induced adverse conditions due to toxicity, DRUG INTERACTIONS, and metabolic effects of pharmaceuticals. | 0 | 2.25 | 1 | 0 |
Anaphylactic Reaction [description not available] | 0 | 2.8 | 3 | 0 |
Allergy, Drug [description not available] | 0 | 2.31 | 1 | 0 |
Anaphylaxis An acute hypersensitivity reaction due to exposure to a previously encountered ANTIGEN. The reaction may include rapidly progressing URTICARIA, respiratory distress, vascular collapse, systemic SHOCK, and death. | 0 | 2.8 | 3 | 0 |
Drug Hypersensitivity Immunologically mediated adverse reactions to medicinal substances used legally or illegally. | 0 | 2.31 | 1 | 0 |
Acute Ischemic Stroke [description not available] | 0 | 2.31 | 1 | 0 |
Malabsorption Syndromes General term for a group of MALNUTRITION syndromes caused by failure of normal INTESTINAL ABSORPTION of nutrients. | 0 | 2.31 | 1 | 0 |
Familial Hypobetalipoproteinemia [description not available] | 0 | 2.31 | 1 | 0 |
Ischemic Stroke Stroke due to BRAIN ISCHEMIA resulting in interruption or reduction of blood flow to a part of the brain. When obstruction is due to a BLOOD CLOT formed within in a cerebral blood vessel it is a thrombotic stroke. When obstruction is formed elsewhere and moved to block a cerebral blood vessel (see CEREBRAL EMBOLISM) it is referred to as embolic stroke. Wake-up stroke refers to ischemic stroke occurring during sleep while cryptogenic stroke refers to ischemic stroke of unknown origin. | 0 | 2.31 | 1 | 0 |
Hypobetalipoproteinemias Conditions with abnormally low levels of BETA-LIPOPROTEINS (low density lipoproteins or LDL) in the blood. It is defined as LDL values equal to or less than the 5th percentile for the population. They include the autosomal dominant form involving mutation of the APOLIPOPROTEINS B gene, and the autosomal recessive form involving mutation of the microsomal triglyceride transfer protein. All are characterized by low LDL and dietary fat malabsorption. | 0 | 2.31 | 1 | 0 |
Apoplexy [description not available] | 0 | 9.86 | 12 | 4 |
Chronic Kidney Diseases [description not available] | 0 | 3.96 | 4 | 0 |
Stroke A group of pathological conditions characterized by sudden, non-convulsive loss of neurological function due to BRAIN ISCHEMIA or INTRACRANIAL HEMORRHAGES. Stroke is classified by the type of tissue NECROSIS, such as the anatomic location, vasculature involved, etiology, age of the affected individual, and hemorrhagic vs. non-hemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810) | 0 | 9.86 | 12 | 4 |
Renal Insufficiency, Chronic Conditions in which the KIDNEYS perform below the normal level for more than three months. Chronic kidney insufficiency is classified by five stages according to the decline in GLOMERULAR FILTRATION RATE and the degree of kidney damage (as measured by the level of PROTEINURIA). The most severe form is the end-stage renal disease (CHRONIC KIDNEY FAILURE). (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002) | 0 | 3.96 | 4 | 0 |
Disease Exacerbation [description not available] | 0 | 11.21 | 24 | 7 |
Left Ventricular Hypertrophy [description not available] | 0 | 8.66 | 11 | 2 |
Arrhythmia [description not available] | 0 | 4.56 | 3 | 0 |
Arrhythmias, Cardiac Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction. | 0 | 4.56 | 3 | 0 |
Hypertrophy, Left Ventricular Enlargement of the LEFT VENTRICLE of the heart. This increase in ventricular mass is attributed to sustained abnormal pressure or volume loads and is a contributor to cardiovascular morbidity and mortality. | 0 | 8.66 | 11 | 2 |
Orphan Diseases Rare diseases that have not been well studied. | 0 | 4.7 | 4 | 0 |
Disease Models, Animal Naturally-occurring or experimentally-induced animal diseases with pathological processes analogous to human diseases. | 0 | 3.68 | 3 | 0 |
Pulmonary Arterial Remodeling [description not available] | 0 | 2.17 | 1 | 0 |
Auricular Fibrillation [description not available] | 0 | 2.47 | 2 | 0 |
Cardiac Failure [description not available] | 0 | 5.77 | 5 | 0 |
Atrial Fibrillation Abnormal cardiac rhythm that is characterized by rapid, uncoordinated firing of electrical impulses in the upper chambers of the heart (HEART ATRIA). In such case, blood cannot be effectively pumped into the lower chambers of the heart (HEART VENTRICLES). It is caused by abnormal impulse generation. | 0 | 2.47 | 2 | 0 |
Heart Failure A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION. | 0 | 5.77 | 5 | 0 |
Focal Segmental Glomerulosclerosis [description not available] | 0 | 2.21 | 1 | 0 |
Glomerulosclerosis, Focal Segmental A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE. | 0 | 2.21 | 1 | 0 |
Chronic Kidney Failure [description not available] | 0 | 5.04 | 9 | 0 |
Cardiac Arrest, Sudden [description not available] | 0 | 2.49 | 2 | 0 |
Kidney Failure, Chronic The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION. | 0 | 5.04 | 9 | 0 |
Death, Sudden, Cardiac Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as CHEST PAIN and CARDIAC ARRHYTHMIAS, particularly VENTRICULAR TACHYCARDIA, can lead to the loss of consciousness and cardiac arrest followed by biological death. (from Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 7th ed., 2005) | 0 | 2.49 | 2 | 0 |
Cardiovascular Diseases Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM. | 0 | 7.86 | 5 | 5 |
Proteinuria The presence of proteins in the urine, an indicator of KIDNEY DISEASES. | 0 | 9.91 | 15 | 8 |
CACH Syndrome [description not available] | 0 | 3.48 | 1 | 1 |
Anterior Choroidal Artery Infarction [description not available] | 0 | 5.05 | 3 | 0 |
Cerebral Infarction The formation of an area of NECROSIS in the CEREBRUM caused by an insufficiency of arterial or venous blood flow. Infarcts of the cerebrum are generally classified by hemisphere (i.e., left vs. right), lobe (e.g., frontal lobe infarction), arterial distribution (e.g., INFARCTION, ANTERIOR CEREBRAL ARTERY), and etiology (e.g., embolic infarction). | 0 | 5.05 | 3 | 0 |
Colicky Pain [description not available] | 0 | 3.38 | 2 | 0 |
Abdominal Pain Sensation of discomfort, distress, or agony in the abdominal region. | 0 | 3.38 | 2 | 0 |
Complications, Pregnancy [description not available] | 0 | 3.69 | 3 | 0 |
Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. | 0 | 3.9 | 4 | 0 |
Lysosomal Enzyme Disorders [description not available] | 0 | 4.13 | 3 | 0 |
Alveolitis, Fibrosing [description not available] | 0 | 2.04 | 1 | 0 |
Pulmonary Fibrosis A process in which normal lung tissues are progressively replaced by FIBROBLASTS and COLLAGEN causing an irreversible loss of the ability to transfer oxygen into the bloodstream via PULMONARY ALVEOLI. Patients show progressive DYSPNEA finally resulting in death. | 0 | 2.04 | 1 | 0 |
Chronic Illness [description not available] | 0 | 2.05 | 1 | 0 |
Fusiform Aneurysm Elongated, spindle-shaped dilation in the wall of blood vessels, usually large ARTERIES with ATHEROSCLEROSIS. | 0 | 2.05 | 1 | 0 |
Cataract, Membranous [description not available] | 0 | 2.05 | 1 | 0 |
Conjunctival Diseases Diseases involving the CONJUNCTIVA. | 0 | 2.05 | 1 | 0 |
Anasarca [description not available] | 0 | 2.05 | 1 | 0 |
Aneurysm Pathological outpouching or sac-like dilatation in the wall of any blood vessel (ARTERIES or VEINS) or the heart (HEART ANEURYSM). It indicates a thin and weakened area in the wall which may later rupture. Aneurysms are classified by location, etiology, or other characteristics. | 0 | 2.05 | 1 | 0 |
Cataract Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed) | 0 | 2.05 | 1 | 0 |
Chronic Disease Diseases which have one or more of the following characteristics: they are permanent, leave residual disability, are caused by nonreversible pathological alteration, require special training of the patient for rehabilitation, or may be expected to require a long period of supervision, observation, or care (Dictionary of Health Services Management, 2d ed). For epidemiological studies chronic disease often includes HEART DISEASES; STROKE; CANCER; and diabetes (DIABETES MELLITUS, TYPE 2). | 0 | 2.05 | 1 | 0 |
Edema Abnormal fluid accumulation in TISSUES or body cavities. Most cases of edema are present under the SKIN in SUBCUTANEOUS TISSUE. | 0 | 2.05 | 1 | 0 |
Cholera Infantum [description not available] | 0 | 5.72 | 4 | 0 |
Chills The sudden sensation of being cold. It may be accompanied by SHIVERING. | 0 | 3.82 | 2 | 1 |
Pyrexia [description not available] | 0 | 3.84 | 2 | 1 |
Diarrhea An increased liquidity or decreased consistency of FECES, such as running stool. Fecal consistency is related to the ratio of water-holding capacity of insoluble solids to total water, rather than the amount of water present. Diarrhea is not hyperdefecation or increased fecal weight. | 0 | 4.74 | 2 | 1 |
Fever An abnormal elevation of body temperature, usually as a result of a pathologic process. | 0 | 3.84 | 2 | 1 |
Cadaver A dead body, usually a human body. | 0 | 2.05 | 1 | 0 |
Lysosomal Enzyme Disorders, Nervous System [description not available] | 0 | 2.96 | 1 | 0 |
Acid beta-Glucosidase Deficiency [description not available] | 0 | 2.96 | 1 | 0 |
Acid Alpha-Glucosidase Deficiency [description not available] | 0 | 2.96 | 1 | 0 |
Mucopolysaccharidosis [description not available] | 0 | 2.96 | 1 | 0 |
Gaucher Disease An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement. | 0 | 2.96 | 1 | 0 |
Glycogen Storage Disease Type II An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4) | 0 | 2.96 | 1 | 0 |
Mucopolysaccharidoses Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency. | 0 | 2.96 | 1 | 0 |
Cardiomyopathy, Hypertrophic Obstructive [description not available] | 0 | 4.78 | 4 | 0 |
Cardiomyopathy, Hypertrophic A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY). | 0 | 4.78 | 4 | 0 |
Dermatitis Medicamentosa [description not available] | 0 | 2.05 | 1 | 0 |
Eosinophilia, Tropical [description not available] | 0 | 2.05 | 1 | 0 |
Eosinophilia Abnormal increase of EOSINOPHILS in the blood, tissues or organs. | 0 | 2.05 | 1 | 0 |
Nervous System Disorders [description not available] | 0 | 4.75 | 2 | 0 |
Nervous System Diseases Diseases of the central and peripheral nervous system. This includes disorders of the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscle. | 0 | 4.75 | 2 | 0 |
Sensitivity and Specificity Binary classification measures to assess test results. Sensitivity or recall rate is the proportion of true positives. Specificity is the probability of correctly determining the absence of a condition. (From Last, Dictionary of Epidemiology, 2d ed) | 0 | 2.06 | 1 | 0 |
Recrudescence [description not available] | 0 | 2.06 | 1 | 0 |
Cerebral Ischemia [description not available] | 0 | 2.06 | 1 | 0 |
Brachial Paresis [description not available] | 0 | 2.06 | 1 | 0 |
Brain Ischemia Localized reduction of blood flow to brain tissue due to arterial obstruction or systemic hypoperfusion. This frequently occurs in conjunction with brain hypoxia (HYPOXIA, BRAIN). Prolonged ischemia is associated with BRAIN INFARCTION. | 0 | 2.06 | 1 | 0 |
Vascular Diseases Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body. | 0 | 2.07 | 1 | 0 |
Cardiac Diseases [description not available] | 0 | 6.5 | 7 | 0 |
Heart Diseases Pathological conditions involving the HEART including its structural and functional abnormalities. | 0 | 6.5 | 7 | 0 |
Kidney Failure A severe irreversible decline in the ability of kidneys to remove wastes, concentrate URINE, and maintain ELECTROLYTE BALANCE; BLOOD PRESSURE; and CALCIUM metabolism. | 0 | 3.86 | 2 | 0 |
Renal Insufficiency Conditions in which the KIDNEYS perform below the normal level in the ability to remove wastes, concentrate URINE, and maintain ELECTROLYTE BALANCE; BLOOD PRESSURE; and CALCIUM metabolism. Renal insufficiency can be classified by the degree of kidney damage (as measured by the level of PROTEINURIA) and reduction in GLOMERULAR FILTRATION RATE. | 0 | 3.86 | 2 | 0 |
Hypertrophy, Right Ventricular Enlargement of the RIGHT VENTRICLE of the heart. This increase in ventricular mass is often attributed to PULMONARY HYPERTENSION and is a contributor to cardiovascular morbidity and mortality. | 0 | 2.06 | 1 | 0 |
Right Ventricular Dysfunction [description not available] | 0 | 2.06 | 1 | 0 |
Nerve Pain [description not available] | 0 | 2.99 | 1 | 0 |
Peripheral Nerve Diseases [description not available] | 0 | 4.12 | 3 | 0 |
Neuralgia Intense or aching pain that occurs along the course or distribution of a peripheral or cranial nerve. | 0 | 2.99 | 1 | 0 |
Peripheral Nervous System Diseases Diseases of the peripheral nerves external to the brain and spinal cord, which includes diseases of the nerve roots, ganglia, plexi, autonomic nerves, sensory nerves, and motor nerves. | 0 | 4.12 | 3 | 0 |
Angioma A vascular anomaly due to proliferation of blood or lymphatic vessels that forms a tumor-like mass. Vessels in the angioma may or may not be dilated. | 0 | 2.08 | 1 | 0 |
Hemangioma A vascular anomaly due to proliferation of BLOOD VESSELS that forms a tumor-like mass. The common types involve CAPILLARIES and VEINS. It can occur anywhere in the body but is most frequently noticed in the SKIN and SUBCUTANEOUS TISSUE. (from Stedman, 27th ed, 2000) | 0 | 2.08 | 1 | 0 |
Coronary Heart Disease [description not available] | 0 | 3.84 | 1 | 0 |
Heart Valve Diseases Pathological conditions involving any of the various HEART VALVES and the associated structures (PAPILLARY MUSCLES and CHORDAE TENDINEAE). | 0 | 4.25 | 2 | 0 |
Click-Murmur Syndrome [description not available] | 0 | 3.84 | 1 | 0 |
Coronary Disease An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels. | 0 | 3.84 | 1 | 0 |
Angor Pectoris [description not available] | 0 | 2.01 | 1 | 0 |
Angina Pectoris The symptom of paroxysmal pain consequent to MYOCARDIAL ISCHEMIA usually of distinctive character, location and radiation. It is thought to be provoked by a transient stressful situation during which the oxygen requirements of the MYOCARDIUM exceed that supplied by the CORONARY CIRCULATION. | 0 | 2.01 | 1 | 0 |
Abnormalities, Sex Chromosome [description not available] | 0 | 2.42 | 2 | 0 |
ADDH [description not available] | 0 | 2.02 | 1 | 0 |
alpha-L-Iduronidase Deficiency [description not available] | 0 | 2.02 | 1 | 0 |
Cancer of Lung [description not available] | 0 | 2.02 | 1 | 0 |
Abdominal Migraine [description not available] | 0 | 2.02 | 1 | 0 |
Palmoplantaris Pustulosis [description not available] | 0 | 2.02 | 1 | 0 |
Lentigines [description not available] | 0 | 2.02 | 1 | 0 |
Attention Deficit Disorder with Hyperactivity A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-V) | 0 | 2.02 | 1 | 0 |
Lentigo Small circumscribed melanoses resembling, but differing histologically from, freckles. The concept includes senile lentigo ('liver spots') and nevoid lentigo (nevus spilus, lentigo simplex) and may also occur in association with multiple congenital defects or congenital syndromes (e.g., Peutz-Jeghers syndrome). | 0 | 2.02 | 1 | 0 |
Mucopolysaccharidosis I Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing. | 0 | 2.02 | 1 | 0 |
Lung Neoplasms Tumors or cancer of the LUNG. | 0 | 2.02 | 1 | 0 |
Migraine Disorders A class of disabling primary headache disorders, characterized by recurrent unilateral pulsatile headaches. The two major subtypes are common migraine (without aura) and classic migraine (with aura or neurological symptoms). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1) | 0 | 2.02 | 1 | 0 |
Psoriasis A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis. | 0 | 2.02 | 1 | 0 |
Mitral Incompetence [description not available] | 0 | 2.02 | 1 | 0 |
Mitral Valve Insufficiency Backflow of blood from the LEFT VENTRICLE into the LEFT ATRIUM due to imperfect closure of the MITRAL VALVE. This can lead to mitral valve regurgitation. | 0 | 2.02 | 1 | 0 |
Eye Disorders [description not available] | 0 | 2.93 | 1 | 0 |
Eye Diseases Diseases affecting the eye. | 0 | 2.93 | 1 | 0 |
Lassitude [description not available] | 0 | 2.02 | 1 | 0 |
Fatigue The state of weariness following a period of exertion, mental or physical, characterized by a decreased capacity for work and reduced efficiency to respond to stimuli. | 0 | 2.02 | 1 | 0 |
Cochlear Hearing Loss [description not available] | 0 | 2.02 | 1 | 0 |
Foot Ulcer Lesion on the surface of the skin of the foot, usually accompanied by inflammation. The lesion may become infected or necrotic and is frequently associated with diabetes or leprosy. | 0 | 2.02 | 1 | 0 |
Hearing Loss, Sensorineural Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM. | 0 | 2.02 | 1 | 0 |
Weight Gain Increase in BODY WEIGHT over existing weight. | 0 | 2.02 | 1 | 0 |
Disease, Pulmonary [description not available] | 0 | 3.86 | 1 | 0 |
ENT Diseases [description not available] | 0 | 3.86 | 1 | 0 |
Lung Diseases Pathological processes involving any part of the LUNG. | 0 | 3.86 | 1 | 0 |
Diseases of Endocrine System [description not available] | 0 | 2.94 | 1 | 0 |
Endocrine System Diseases Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES. | 0 | 2.94 | 1 | 0 |
Brain Vascular Disorders [description not available] | 0 | 7.46 | 4 | 4 |
Cerebrovascular Disorders A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others. | 0 | 7.46 | 4 | 4 |
MS (Multiple Sclerosis) [description not available] | 0 | 2.95 | 1 | 0 |
Multiple Sclerosis An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903) | 0 | 2.95 | 1 | 0 |
Diffuse Parenchymal Lung Disease [description not available] | 0 | 2.03 | 1 | 0 |
Breathlessness [description not available] | 0 | 2.03 | 1 | 0 |
Dyspnea Difficult or labored breathing. | 0 | 2.03 | 1 | 0 |
Lung Diseases, Interstitial A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of PULMONARY ALVEOLI that extends to the interstitium and beyond leading to diffuse PULMONARY FIBROSIS. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features. | 0 | 2.03 | 1 | 0 |
Adrenoleukodystrophy, Autosomal Neonatal Form [description not available] | 0 | 2.95 | 1 | 0 |
Degenerative Disease, Nervous System, Hereditary [description not available] | 0 | 2.95 | 1 | 0 |
Electron Transport Chain Deficiencies, Mitochondrial [description not available] | 0 | 2.95 | 1 | 0 |
Congenital Myotonic Dystrophy [description not available] | 0 | 2.95 | 1 | 0 |
Myotonic Dystrophy Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2. | 0 | 2.95 | 1 | 0 |
Peroxisomal Disorders A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders. | 0 | 2.95 | 1 | 0 |
Mitochondrial Diseases Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes. | 0 | 2.95 | 1 | 0 |
Impairment, Light Touch Sensation [description not available] | 0 | 2.03 | 1 | 0 |
Left Ventricular Dysfunction [description not available] | 0 | 2.04 | 1 | 0 |
Ventricular Dysfunction, Left A condition in which the LEFT VENTRICLE of the heart was functionally impaired. This condition usually leads to HEART FAILURE; MYOCARDIAL INFARCTION; and other cardiovascular complications. Diagnosis is made by measuring the diminished ejection fraction and a depressed level of motility of the left ventricular wall. | 0 | 2.04 | 1 | 0 |
Nausea An unpleasant sensation in the stomach usually accompanied by the urge to vomit. Common causes are early pregnancy, sea and motion sickness, emotional stress, intense pain, food poisoning, and various enteroviruses. | 0 | 4.34 | 1 | 1 |
Cirrhosis [description not available] | 0 | 2.04 | 1 | 0 |
Fibrosis Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury. | 0 | 2.04 | 1 | 0 |