| Description | SNP-phenotype association p-values curated from published GWAS |
| Measurement | genetic association by data aggregation from genome-wide association and other genetic association studies |
| Association | gene-phenotype associations by manual GWAS curation |
| Category | disease or phenotype associations |
| Resource | GWASdb |
| Citation(s) | |
| Last Updated | 2015 Apr 06 |
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Attribute Similarity
Gene Attribute
Gene Similarity
822 sets of genes associated with phenotypes in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.
| Gene Set | Description |
|---|---|
| all | Root of all terms in the Human Phenotype Ontology. |
| neoplasm of the central nervous system | A neoplasm of the central nervous system. |
| abnormality of vitamin metabolism | An anomaly in the metabolism of a vitamin. |
| reduced factor viii activity | |
| renal cell carcinoma | A carcinoma arising from the renal parenchyma. The incidence of renal cell carcinoma has increased by 35% from 1973 to 1991. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Diagnostic procedures include: ultra sound, intravenous pyelography and computed tomography (CT). Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy.|A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma. |
| weight loss | Reduction inexisting body weight. |
| abnormality of movement | An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. |
| hypothyroidism | A deficiency of thyroid hormone. |
| abnormality of the endometrium | An anomaly of the inner mucous membrane of the uterus. |
| decreased body weight | |
| stomach cancer | A gastrointestinal system cancer that is located_in the stomach. |
| neoplasm of the respiratory system | A tumor (abnormal growth of tissue) of the respiratory system. |
| osteoporosis | Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis. |
| hypolipidemia | |
| ovarian neoplasm | A female reproductive organ cancer that is located_in the ovary. |
| increased density of long bones | An abnormal increase in the bone density of the long bones. |
| supraventricular arrhythmia | A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm. |
| hip osteoarthritis | |
| dilated cardiomyopathy | An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently.|A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein.|decreased function of the heart associated with cardiac enlargement and congestive heart failure |
| freckling | The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. |
| abnormality of thyroid morphology | A structural abnormality of the thyroid gland. |
| abnormality of forearm bone | |
| allergy | An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods. |
| abnormality of the integument | An abnormality of the integument, which consists of the skin and the superficial fascia. |
| rheumatoid arthritis | An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint. |
| abnormality of vitamin d metabolism | |
| abnormality of myeloid leukocytes | An abnormality of myeloid leukocytes. |
| polycystic ovaries | A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading. |
| nephropathy | A disease affecting the kidneys |
| abnormal eye physiology | A functional anomaly of the eye. |
| abnormal renal physiology | An abnormal functionality of the kidney. |
| mania | A state of abnormally elevated or irritable mood, arousal, and or energy levels. |
| hemoglobinuria | |
| nephrosclerosis | |
| anemia | A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin. |
| sudden cardiac death | The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset). |
| abnormality of the cerebral subcortex | An abnormality of the cerebral subcortex. |
| abnormality of divalent inorganic cation homeostasis | An abnormality of divalent inorganic cation homeostasis. |
| inflammatory abnormality of the skin | |
| age-related macular degeneration | A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision. |
| abnormality of the stomach | An abnormality of the stomach. |
| abnormal gallbladder morphology | A structural anomaly of the gallbladder. |
| deep venous thrombosis | Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected. |
| primary atrial arrhythmia | A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance. |
| pancreatic adenocarcinoma | A pancreatic carcinoma that derives_from epithelial cells of glandular origin. |
| myocardial infarction | Xref MGI. |
| obesity | An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher.|A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY). |
| prolonged qtc interval | |
| abnormality of central motor function | An anomaly of the control or production of movement in the central nervous system. |
| chronic leukemia | A leukemia that develops slowly. |
| abnormality of the vasculature | An abnormality of the vasculature. |
| glioma | A cell type cancer that has_material_basis_in glial cells and is located_in brain or located_in spine. |
| abnormal gallbladder physiology | A functional anomaly of the gallbladder. |
| supranuclear gaze palsy | A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. |
| prolonged qrs complex | Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec. |
| bipolar affective disorder | |
| decreased fertility | |
| esophagitis | |
| premature eruption of permanent teeth | Premature tooth eruption of the permanent dentition. |
| malignant mesothelioma | A cell type cancer that has_material_basis_in mesothelial tissue. |
| periodontitis | Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology) |
| abnormal intraocular pressure | An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye. |
| depression | A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure. |
| abnormal eating behavior | Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption. |
| abnormal thrombosis | Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). |
| abnormality of glycolipid metabolism | An abnormality of glycolipid metabolism. |
| time of death | The age group when the cessation of life happens. |
| multiple mitochondrial dna deletions | The presence of multiple deletions of mitochondrial DNA (mtDNA). |
| abnormality of connective tissue | Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). |
| abnormality of upper limb bone | |
| abnormality of the aortic valve | Any abnormality of the aortic valve. |
| abnormality of cellular immune system | An abnormality of the morphology or counts of the cells that make up the immune system. |
| myoclonic spasms | |
| biliary atresia | A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder. |
| jaundice | Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. |
| clavicular sclerosis | An increase in bone density within the clavicle. |
| hearing abnormality | An abnormality of the sensory perception of sound. |
| cortical sclerosis | Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity. |
| decreased corneal thickness | A decreased anteroposterior thickness of the cornea. |
| bulimia | A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these). |
| meconium ileus | Obstruction of the intestine due to abnormally thick meconium. |
| vitiligo | A disorder consisting of areas of macular depigmentation, commonly on extensor aspects of extremities, on the face or neck, and in skin folds. Age of onset is often in young adulthood and the condition tends to progress gradually with lesions enlarging and extending until a quiescent state is reached. |
| abdominal aortic aneurysm | An aortic aneurysm that is located_in the abdominal aorta. |
| vomiting | Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. |
| abnormality of immune serum protein physiology | An abnormality of the concentration or function of circulating immune proteins. |
| abnormality of leukocytes | An abnormality of leukocytes. |
| abnormality of oral mucosa | Abnormality of the oral mucosa. |
| type ii diabetes mellitus | A diabetes mellitus that involves high blood glucose resulting from cells fail to use insulin properly. |
| abnormality of the urethra | An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body. |
| abnormality of brain morphology | A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. |
| preeclampsia | A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy. |
| abnormality of the endocrine system | |
| abnormality of cerebral artery | An anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery. |
| abnormality of the breast | An abnormality of the breast. |
| menstrual irregularities | |
| abnormality of the autonomic nervous system | An abnormality of the autonomic nervous system. |
| cardiovascular calcification | Abnormal calcification in the cardiovascular system. |
| deficit in nonword repetition | Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory. |
| oral cleft | The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. |
| abnormality of the pharynx | An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly. |
| granulomatosis | Formation of multiple granulomas, i.e., localized nodular foci inflammation. |
| focal seizures | Seizures of which initial semiology indicates, or is consistent with, initial activation of only part of one cerebral hemisphere. |
| eeg abnormality | Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp. |
| sclerosis of skull base | Increased bone density of the skull base without significant changes in bony contour. |
| neoplasm of the nervous system | |
| abnormality of the femur | Abnormality of the femur. |
| abnormality of the immune system | An abnormality of the immune system. |
| cataract | Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)|Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)|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) |
| morphological abnormality of the middle ear | An abnormality of the morphology or structure of the middle ear. |
| pancreatitis | Inflammation of the pancreas.|INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis. |
| abnormality of vitamin a metabolism | |
| clinical modifier | This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects. |
| reduced bone mineral density | A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. |
| toxemia of pregnancy | Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Ecplamsia. |
| generalized hypotonia | Generalized muscular hypotonia (abnormally low muscle tone). |
| macular degeneration | A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye; symptoms include vision loss. |
| abnormality of the calf | An abnormality of the calf, i.e. of the posterior part of the lower leg. |
| abnormality of potassium homeostasis | An abnormal concentration of potassium. |
| keratoconus | A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape. |
| abnormality of the carotid arteries | |
| calvarial osteosclerosis | An increase in bone density affecting the calvaria (roof of the skull). |
| ewing's sarcoma | A bone cancer that has_material_basis in neural crest cells derived_from undeveloped, undifferentiated neuroectoderm. |
| type i diabetes mellitus | A diabetes mellitus that results from the body's failure to produce insulin and has_material_basis_in autoimmune destruction of insulin-producing beta cells of the pancreas. |
| diaphyseal sclerosis of the upper limbs | An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity. |
| retinopathy | Any disease or disorder of the retina. |
| osteosarcoma | A sarcoma originating in bone-forming cells, affecting the ends of long bones. It is the most common and most malignant of sarcomas of the bones, and occurs chiefly among 10- to 25-year-old youths. (From Stedman, 25th ed)|A malignant mesenchymal tumor arising from the bone.|A usually aggressive malignant bone-forming mesenchymal tumor, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs. |
| abnormality of retinal arteries | |
| abnormalities of the peripheral arteries | |
| abnormality of the kidney | An abnormality of the kidney. |
| urethral obstruction | |
| tachycardia | A rapid heartrate that exceeds the range of the normal resting heartrate for age. |
| muscular hypotonia | Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching. |
| abnormality of circle of willis | An anomaly of the circle of Willis, also known as the cerebral arterial circle. |
| pulmonary embolism | An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot. |
| 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. |
| abnormality of the hand | An abnormality affecting one or both hands. |
| abnormality of the pituitary gland | An anomaly of the pituitary gland. |
| maternal diabetes | |
| esophageal carcinoma | Tumors or cancer of the ESOPHAGUS. |
| abnormality of the myocardium | |
| atrial fibrillation | A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain. |
| prolonged qt interval | increase in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time, and is measured from the beginning of the QRS complex to the end of the T wave |
| abnormality of the biliary system | An abnormality of the biliary system. |
| osteosclerosis of the ulna | Osteosclerosis (increased density related to increased bone mass) of the ulna. |
| abnormality of the cell cycle | An abnormality of the cell cycle. |
| gastrointestinal obstruction | |
| abnormality of von willebrand factor | Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. |
| abnormal leukocyte count | Number of leukocytes per volume of blood beyond normal limits. |
| genital neoplasm | A tumor (abnormal growth of tissue) of the genital system. |
| testicular neoplasm | The presence of a neoplasm of the testis. |
| retinal coloboma | A notch or cleft of the retina. |
| delayed eruption of primary teeth | Delayed tooth eruption affecting the primary dentition. |
| leukopenia | decrease in no. of leukocytes |
| ventricular fibrillation | Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations. |
| abnormality of finger | An anomaly of a finger. |
| keloids | Presence of one or more keloids. A keloid is a sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair. |
| abnormality of the lower limb | An abnormality of the leg. |
| neoplasm of the colon | |
| abnormality of long bone morphology | An abnormality of size or shape of the long bones. |
| heart block | Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway. |
| nausea and vomiting | |
| abnormality of thrombocytes | An abnormality of platelets. |
| abnormality of neutrophils | A neutrophil abnormality. |
| abnormality of the hip bone | An abnormality of the hip bone. |
| abnormality of the upper urinary tract | An abnormality of the upper urinary tract. |
| hypersomnia | a large group of disorders characterized by excessive daytime sleepiness |
| diffuse mesangial sclerosis | Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion. |
| abnormality of the iris | An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil. |
| abnormalities of placenta or umbilical cord | An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta). |
| stroke | An artery disease that is characterized by dysfunction of the blood vessels supplying the brain. |
| abnormality of the lower urinary tract | An abnormality of the lower urinary tract. |
| abnormality of cardiac ventricle | An abnormality of a cardiac ventricle. |
| abnormal iris pigmentation | Abnormal pigmentation of the iris. |
| alopecia areata | A hypersensitivity reaction type II disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots. |
| abnormal bone structure | Any anomaly in the composite material or the layered arrangement of the bony skeleton. |
| premature ovarian failure | An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40. |
| abnormality of thyroid physiology | An abnormal functionality of the thyroid gland. |
| coloboma | An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc. |
| systemic lupus erythematosus | A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. |
| neoplasm of the pancreas | |
| abnormality of hair pigmentation | An abnormality of hair pigmentation (color). |
| diaphyseal sclerosis | An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity. |
| germ cell neoplasia | |
| scarring | |
| mesangial abnormality | An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries. |
| azotemia | An increased concentration of nitrogen compounds in the blood. |
| abnormal serum iron | |
| abnormality of vitamin b metabolism | |
| abnormality of circulating fibrinogen | An abnormality of the level of activity of circulating fibrinogen. |
| abnormal emotion/affect behavior | An abnormality of emotional behaviour. |
| aortic valve calcification | Deposition of calcium salts in the aortic valve. |
| increased body weight | |
| abnormality of the adrenal glands | Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys. |
| helicobacter pylori infection | |
| fever | Elevated body temperature due to failed thermoregulation. |
| non-obstructive azoospermia | Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy. |
| abnormality of the intestine | An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. |
| arthritis | Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints. |
| leukemia | A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.|A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)|A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years. |
| abnormal bleeding | |
| abnormality of the respiratory system | An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. |
| internal hemorrhage | The presence of hemorrhage within the body. |
| orthostatic tachycardia | An increase in heart rate with standing of 30 beats per minute or more. |
| abnormality of phalanx of finger | Abnormalities affecting the phalanx of finger. |
| abnormal atrioventricular conduction | |
| neoplasm of the stomach | A tumor (abnormal growth of tissue) of the stomach. |
| abnormality of the musculature | Abnormality originating in one or more muscles, i.e., of the set of muscles of body. |
| abnormality of the cerebral white matter | An abnormality of the cerebral white matter. |
| abnormality of the duodenum | An abnormality of the duodenum, i.e., the first section of the small intestine. |
| arthralgia | Joint pain. |
| gastrointestinal hemorrhage | Hemorrhage affecting the gastrointestinal tract. |
| red hair | |
| abnormality of the skull base | An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components. |
| esophageal neoplasm | A tumor (abnormal growth of tissue) of the esophagus. |
| inflammation of the large intestine | |
| abnormality of the astrocytes | An abnormality of astrocytes. |
| erectile abnormalities | |
| increased blood urea nitrogen (bun) | An increased amount of nitrogen in the form of urea in the blood. |
| abnormality of the urinary system physiology | |
| abnormality of basophils | A basophils abnormality. |
| abnormality of nervous system morphology | A structural anomaly of the nervous system. |
| mental deterioration | Loss of previously present mental abilities, generally in adults. |
| functional abnormality of the gastrointestinal tract | Abnormal functionality of the gastrointestinal tract. |
| abnormality of the face | An abnormality of the face. |
| diabetes mellitus | A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.|A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE. |
| rhegmatogenous retinal detachment | A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium. |
| neoplasm of the breast | A tumor (abnormal growth of tissue) of the breast. |
| neurological speech impairment | |
| abnormal hair quantity | An abnormal amount of hair. |
| abnormality of the male genitalia | Abnormality of the male genital system. |
| abnormality of facial skeleton | An abnormality of one or more of the set of bones that make up the facial skeleton. |
| cholestasis | |
| abnormality of the posterior segment of the eye | The posterior segment comprises the anterior hyaloid membrane and all of the optical structures behind it: the vitreous humor, retina, choroid, and optic nerve. |
| abnormality of the gingiva | Any abnormality of the gingiva (also known as gums). |
| stage 5 chronic kidney disease | |
| moyamoya phenomenon | A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis. |
| lipid accumulation in hepatocytes | |
| abnormality of the large intestine | Any abnormality of the large intestine. |
| myeloproliferative disorder | A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow. |
| nausea | A sensation of unease in the stomach together with an urge to vomit. |
| neoplasm of the liver | |
| abnormality of the lung | An abnormality of the lung. |
| papillary thyroid carcinoma | A thyroid carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer. |
| bladder neoplasm | The presence of a neoplasm of the urinary bladder. |
| coronary artery calcification | Calcification, that is, pathological deposition of calcium salts, affecting the coronary arteries. |
| recurrent viral infections | Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection. |
| atherosclerosis | A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA. |
| insomnia | Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition |
| b-cell lymphoma | A non-Hodgkin lymphoma that has_material_basis_in B cells. |
| abnormality of circulating hormone level | An abnormal concentration of a hormone in the blood. |
| abnormality of the placenta | An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange. |
| acute lymphatic leukemia | |
| abnormality of the ankles | |
| abnormality of the femoral neck | An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). |
| neoplasm of head and neck | |
| neoplasm of the skin | |
| abnormality of the heart valves | An abnormality of a Cardiac valve. |
| azoospermia | A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen. |
| abnormal nervous system electrophysiology | An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations. |
| morphological abnormality of the gastrointestinal tract | Abnormal structure of the gastrointestinal tract. |
| abnormality of aromatic amino acid family metabolism | An abnormality of a aromatic amino acid family metabolic process. |
| abnormality of prenatal development or birth | An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. |
| abnormality of eye movement | An abnormality in voluntary or involuntary eye movements or their control. |
| abnormality of the upper limb | An abnormality of the arm. |
| sleep-wake cycle disturbance | |
| abnormal male reproductive system physiology | An abnormal functionality of the male genital system. |
| anemia due to reduced life span of red cells | A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days. |
| patchy osteosclerosis | Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays. |
| abnormality of the cerebral vasculature | |
| abnormality of the ovary | An abnormality of the ovary. |
| amyotrophic lateral sclerosis | A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts (MeSH).|An autosomal dominant inherited form of amyloidosis.|A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94) |
| abnormality of the prostate | An abnormality of the prostate. |
| nephrolithiasis | Formation of stones in the KIDNEY. |
| embryonal renal neoplasm | The presence of an embryonal neoplasm of the kidney that primarily affects children. |
| abnormality of amino acid metabolism | Abnormality of an amino acid metabolic process. |
| abnormal external genitalia | |
| autoimmunity | |
| hyperbilirubinemia | An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism. |
| intestinal carcinoid | |
| arterial calcification | Pathological deposition of calcium salts in one or more arteries. |
| emphysema | A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing. |
| abnormal ekg | |
| abnormal axial skeleton morphology | An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. |
| renal neoplasm | Tumors or cancers of the KIDNEY. |
| abnormality of digit | A morphological abnormality of a digit, i.e., of a finger or toe. |
| localized skin lesion | A lesion of the skin that is located in a specific region rather than being generalized. |
| abnormality of limbs | |
| metaphyseal sclerosis | Abnormally increased density of metaphyseal bone. |
| seizures | Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures. |
| mode of inheritance | The pattern in which a particular genetic trait or disorder is passed from one generation to the next. |
| increased intraocular pressure | |
| immunologic hypersensitivity | |
| prostate neoplasm | A male reproductive organ cancer that is located_in the prostate. |
| nephrotic syndrome | Xref MGI. |
| abnormality of the testis | An anomaly of the testicle (the male gonad). |
| abnormality of the anterior segment of the eye | An abnormality of the anterior segment of the eye. |
| abnormal immunoglobulin level | An abnormal deviation from normal levels of immunoglobulins in blood. |
| osteoarthritis | A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans. |
| sudden death | Rapid and unexpected death. |
| carcinoid | A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin. |
| squamous cell carcinoma | A carcinoma that derives_from squamous epithelial cells. |
| abnormality of dental eruption | An abnormality of tooth eruption. |
| subaortic stenosis | |
| abnormal monocyte count | An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. |
| abnormality of the clavicle | Any abnormality of the clavicles (collar bones). |
| cataplexy | A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions. |
| abnormality of homocysteine metabolism | An abnormality of a homocysteine metabolic process. |
| nephroblastoma (wilms tumor) | |
| hyperkinetic seizures | Seizures with increase in rate of ongoing movements or inappropriately rapid performance of a movement involving predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrashing, rocking movements. |
| abnormality of the knees | An abnormality of the knee joint or surrounding structures. |
| abnormality of the coronary arteries | An abnormality of the coronary arteries. |
| abnormality of the cardiovascular system | Any abnormality of the cardiovascular system. |
| male infertility | |
| abnormality of skin adnexa | An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. |
| abnormality of the pleura | An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls. |
| patchy changes of bone mineral density | Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density). |
| abnormality of the hair | An abnormality of the hair. |
| ventricular arrhythmia | |
| abnormality of interleukin secretion | |
| generalized amyloid deposition | A diffuse form of amyloidosis. |
| hypogammaglobulinemia | A B cell deficiency that is caused by a reduction in all types of gamma globulins. |
| allergic rhinitis | A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites. |
| alzheimer disease | A dementia that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting in late middle age and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability.|A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.|A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)|A dementia which is an incurable disease of unknown cause, starting in late middle age or in old age, that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood, that leads in advanced cases to a profound decline in cognitive and physical functioning, and that is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. |
| meningioma | A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges. |
| termporal pattern | The speed at which disease manifestations appear and develop. |
| abnormality of blood and blood-forming tissues | An abnormality of the hematopoietic system. |
| abnormality of transition element cation homeostasis | An abnormality of the homeostasis (concentration) of transition element cation. |
| bicuspid aortic valve | The presence of an aortic valve with two instead of the normal three cusps (flaps). |
| headache | Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. |
| abnormality of tryptophan metabolism | An abnormality of tryptophan metabolic process. |
| hyperuricemia | An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood. |
| alopecia | A hypotrichosis that is characterized by a loss of hair from the head or body. |
| abnormality of the head | An abnormality of the head. |
| abnormality of head or neck | An abnormality of head and neck. |
| abnormal neutrophil cell number | A deviation from the normal range of neutrophil cell counts in the circulation. |
| abnormality of the mandible | Any abnormality of the mandible, the bone of the lower jaw. |
| abnormality of the vertebral column | Any abnormality of the vertebral column. |
| malignant gastrointestinal tract tumors | |
| cardiac arrest | A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all. |
| functional respiratory abnormality | This category describes not-primarily structural lesions. |
| congenital glaucoma | |
| abnormal facial shape | An abnormal morphology (form) of the face or its components. |
| abnormality of bone mineral density | This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ. |
| ulcerative colitis | A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores. |
| abnormality of humoral immunity | An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system. |
| neurodevelopmental abnormality | A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. |
| abnormality of taste sensation | |
| hypovolemia | An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood. |
| abnormality of renin-angiotensin system | An abnormality of the renin-angiotensin system. |
| abnormality of pancreas physiology | An anomaly of the function of the pancreas. |
| abnormality of the skeletal system | An abnormality of the skeletal system. |
| venous insufficiency | A vein disease that is characterized by impaired flow of blood through the veins. |
| dilatation of the abdominal aorta | |
| primitive neuroectodermal tumor | A tumor that originates in cells from the primitive neural crest. This group of tumors is characteirzed by the presence of primitive cells with elements of neuronal and/or glial differentiation. |
| abnormality of primary teeth | Any abnormality of the primary tooth. |
| abnormality of the thorax | Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). |
| abnormality of cation homeostasis | An abnormality of cation homeostasis. |
| neoplasm of the large intestine | The presence of a neoplasm of the large intestine. |
| abnormal platelet count | Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood. |
| astrocytoma | A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation (MeSH).|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082) |
| abnormal aggressive, impulsive or violent behavior | |
| myositis | An inflammatory process affecting the skeletal muscles. Causes include infections, injuries, and autoimmune disorders.|Inflammation of a muscle or muscle tissue. |
| glioblastoma | |
| attention deficit hyperactivity disorder | 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-IV) |
| acquired abnormal hair pattern | An abnormality of the distribution of hair growth that is acquired during the course of life. |
| abnormal glomerular filtration rate | An anomaly in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. |
| recurrent mycobacterial infections | Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection. |
| peripheral neuropathy | A neuropathy that is located_in nerves of the peripheral nervous system. |
| abnormality of the thyroid gland | An abnormality of the thyroid gland. |
| abnormality of the abdomen | Abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax. |
| dementia | An acquired organic mental disorder with loss of intellectual abilities of sufficient severity to interfere with social or occupational functioning. The dysfunction is multifaceted and involves memory, behavior, personality, judgment, attention, spatial relations, language, abstract thought, and other executive functions. The intellectual decline is usually progressive, and initially spares the level of consciousness. |
| lymphedema | |
| pyloric stenosis | |
| mechanical ileus | |
| abnormality of the cerebrum | An abnormality of the telencephalon, which is also known as the cerebrum. |
| abnormality of the cerebrospinal fluid | An abnormality of the cerebrospinal fluid (CSF). |
| abnormality of the menstrual cycle | An abnormality of the ovulation cycle. |
| behavioral abnormality | An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. |
| abnormal eye morphology | A structural anomaly of the eye. |
| abnormality of the oral cavity | Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. |
| vitamin e deficiency | |
| neoplasm of the gastrointestinal tract | A tumor (abnormal growth of tissue) of the gastrointestinal tract. |
| fasting hyperinsulinemia | An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake. |
| abnormality of cholesterol metabolism | |
| abnormality of granulocytes | An abnormality of granulocytes. |
| neutropenia | |
| abnormal testosterone level | An anomalous concentration of testosterone in the blood. |
| abnormality of skin morphology | Any morphological abnormality of the skin. |
| abnormality of monovalent inorganic cation homeostasis | An abnormality of monovalent inorganic cation homeostasis. |
| abdominal symptom | |
| hypointensity of cerebral white matter on mri | A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter. |
| hypertrophic cardiomyopathy | 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).|A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract. |
| abnormality of the skin | An abnormality of the skin. |
| juvenile rheumatoid arthritis | A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint. |
| sclerosis of humeral diaphysis | |
| primary open angle glaucoma | OMIM mapping confirmed by DO. [SN]. |
| neoplasm of the endocrine system | A tumor (abnormal growth of tissue) of the endocrine system. |
| abnormality of the fundus | |
| hypertriglyceridemia | A condition of elevated levels of TRIGLYCERIDES in the blood. |
| abnormality of forebrain morphology | An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. |
| testicular seminoma | The presence of a seminoma, an undifferentiated germ cell tumor of the testis. |
| hyperthyroidism | A thyroid gland disease that involves an over production of thyroid hormone. |
| abnormality of the tongue | Any abnormality of the tongue. |
| impaired platelet aggregation | An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. |
| abnormality of acid-base homeostasis | An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH. |
| abnormal joint morphology | An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. |
| abnormality of the vertebrae | An abnormality of one or more of the vertebrae. |
| abnormality of the spinal cord | |
| migraine without aura | A migraine that is characterized by migraine headaches that are not accompanied by an aura. |
| diffuse cerebral sclerosis | |
| abnormal motor neuron morphology | Any structural anomal that affects the motor neuron. |
| parkinsonism | Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. |
| elevated follicle stimulating hormone | An elevated concentration of follicle-stimulating hormone in the blood. |
| vascular skin abnormality | |
| abnormality of iron homeostasis | An abnormality of the homeostasis (concentration) of iron cation. |
| motor neuron atrophy | Wasting involving the motor neuron. |
| abnormality of the cornea | Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber. |
| malformation of the heart and great vessels | |
| abnormality of refraction | An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina. |
| atypical scarring of skin | Atypically scarred skin . |
| bronchopulmonary sequestration | The presence of microscopic cystic masses of nonfunctioning pulmonary tissue that lack an obvious communication with the tracheobronchial tree. |
| moderate generalized osteoporosis | Moderate osteoporosis. |
| abnormality of blood volume homeostasis | An abnormality in the amount of volume occupied by intravascular blood. |
| abnormal biliary tract morphology | A structural abnormality of the biliary tree. |
| abnormality of dna repair | An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage. |
| abnormality of the nose | An abnormality of the nose. |
| abnormality of nitrogen compound homeostasis | The presence of an abnormal concentration of nitrogen compounds. |
| abnormal neuron morphology | A structural anomaly of a neuron. |
| acne | A chronic disorder of the pilosebaceous apparatus associated with an increase in sebum secretion. It is characterized by open comedones (blackheads), closed comedones (whiteheads), and pustular nodules. The cause is unknown, but heredity and age are predisposing factors. |
| abnormality of central nervous system electrophysiology | |
| abnormality of nervous system physiology | A functional anomaly of the nervous system. |
| abnormality of erythrocytes | An abnormality of erythrocytes (red-blood cells). |
| colitis | Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER. |
| abnormality of liposaccharide metabolism | An abnormality of liposaccharide metabolism. |
| abnormality of the femoral neck or head region | |
| chronic lymphatic leukemia | A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease. |
| sclerosis of finger phalanx | An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. |
| abnormality of the urinary system | An abnormality of the urinary system. |
| astigmatism | Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed). |
| abnormality of the vasculature of the eye | |
| arrhythmia | Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. |
| multiple myeloma | A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)|A myeloma that is located_in the plasma cells in bone marrow.|A malignancy of mature PLASMA CELLS engaging in monoclonal immunoglobulin production. It is characterized by hyperglobulinemia, excess Bence-Jones proteins (free monoclonal IMMUNOGLOBULIN LIGHT CHAINS) in the urine, skeletal destruction, bone pain, and fractures. Other features include ANEMIA; HYPERCALCEMIA; and RENAL INSUFFICIENCY. |
| abnormality of the glomerulus | A structural anomaly of the glomerulus. |
| abnormality of unsaturated fatty acid metabolism | An abnormality of unsaturated fatty acid metabolism. |
| increased corneal curvature | An increase in the degree of curvature of the cornea compared to normal. |
| hyperpituitarism | |
| bladder carcinoma | A carcinoma that forms in tissues of the bladder.|Bladder carcinoma is a carcinoma arising from the bladder epithelium. Approximately 90% of the bladder carcinomas are transitional cell carcinomas. The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas.|A carcinoma that arises_from tissues of the bladder.|A carcinoma arising from the bladder epithelium. Approximately 90% of the bladder carcinomas are transitional cell carcinomas. The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas. |
| abnormality of cardiac morphology | An abnormality of the heart. |
| gastrointestinal inflammation | |
| cerebral ischemia | |
| skin rash | |
| abnormality of circulating protein level | |
| abnormality of copper homeostasis | An abnormal concentration of copper. |
| cystic lung disease | |
| prenatal maternal abnormality | |
| abnormal genital system morphology | A structural or developmental anomaly of any of the tissues involved in the genital system. |
| abnormality of the humeral diaphysis | An anomaly of the humeral diaphysis. |
| increased serum zinc | An increased consentration of zinc in the blood. |
| fibrocystic lung disease | |
| advanced eruption of teeth | Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age. |
| humeral sclerosis | |
| gout | Hereditary metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of uric acid calculi. |
| phenotypic abnormality | A phenotypic abnormality. |
| duodenal ulcer | Adding UMLS CUI for Curling Ulcer C0013295. |
| abnormality of reproductive system physiology | An abnormal functionality of the genital system. |
| uterine neoplasm | A tumor (abnormal growth of tissue) of the uterus. |
| uterine leiomyoma | A benign tumor derived from smooth muscle tissue, also known as a fibroid tumor. They rarely occur outside of the UTERUS and the GASTROINTESTINAL TRACT but can occur in the SKIN and SUBCUTANEOUS TISSUE, probably arising from the smooth muscle of small blood vessels in these tissues.|A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.|An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain. |
| abnormality of the uterus | An abnormality of the uterus. |
| aspirin-induced asthma | A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction. |
| schizophrenia | A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.|A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior. |
| angioedema | condition similar to urticarai but with swelling occuring in a lower layer of the dermis as well as in the subcutis |
| abnormality of female internal genitalia | An abnormality of the female internal genitalia. |
| abnormal appendicular skeleton morphology | An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. |
| aortic aneurysm | An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size. |
| hyperlipidemia | Abnormally high level of lipids in blood.|Conditions with excess LIPIDS in the blood. |
| increased serum iron | |
| ventricular hypertrophy | Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy. |
| otosclerosis | Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs. |
| abnormal cortical bone morphology | An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones. |
| abnormality of the curvature of the cornea | |
| arterial stenosis | Narrowing or constriction of the inner surface (lumen) of an artery. |
| sclerosis of hand bone | Osteosclerosis affecting one or more bones of the hand. |
| urethral stenosis | Abnormal narrowing of the urethra. |
| acute leukemia | A leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity. These lymphocytes (acute lymphocytic leukemia [ALL]) or myeloid cells (acute myelocytic leukemia [AML]) proliferate abnormally, replacing normal marrow tissue and hematopoietic cells and inducing anemia, thrombocytopenia, and granulocytopenia. |
| abnormality of the metaphyses | An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. |
| pulmonary fibrosis | |
| functional abnormality of male internal genitalia | |
| sclerosis of foot bone | An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity. |
| fasting hypoglycemia | |
| abnormality of the gastrointestinal tract | |
| neoplasm by histology | Neoplasm categorized according to type of histological abnormality. |
| abnormality of the common coagulation pathway | An abnormality of blood coagulation, common pathway. |
| recurrent infections | Increased susceptibility to microbial infections, as manifested by recurrent episodes of infection. |
| intestinal obstruction | |
| iga deficiency | A B cell deficiency that is an autosomal recessive disorder caused by mutation in the IgA (CD79 alpha) antigen receptor. |
| selective tooth agenesis | A tooth disease characterized by failure to develop on or more missing teeth. |
| biliary cirrhosis | liver damage to parenchymal cells due to obstruction of bile flow in the bile ducts |
| abnormality of male internal genitalia | An abnormality of the male internal genitalia. |
| nervous tissue neoplasm | A neoplasm derived from nervous tissue (not necessarity a neoplasm located in the nervous system). |
| abnormality of the hypothalamus-pituitary axis | Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit. |
| urethral sphincter sclerosis | |
| syncope | Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. |
| neoplasm of the gallbladder | The presence of a neoplasm of the gallbladder. |
| abnormality of fatty-acid metabolism | An abnormality of fatty acid metabolism. |
| thyrotoxicosis with diffuse goiter | |
| abnormality of the genitourinary system | The presence of any abnormality of the genitourinary system. |
| heterochromia iridis | Heterochromia iridis is a difference in the color of the iris in the two eyes. |
| abnormality of skin physiology | Any abnormality of the physiological function of the skin. |
| vascular calcification | Abnormal calcification of the vasculature. |
| increased red cell sickling tendency | |
| abnormality of cytokine secretion | An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells). |
| abnormal electrophysiology of sinoatrial node origin | An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart. |
| growth abnormality | |
| hematological neoplasm | |
| abnormality of the choroid | |
| cns infection | |
| abnormality of the globe | An anomaly of the eyeball. |
| abnormality of radial diaphysis | An anomaly of the radial diaphysis. |
| abnormality of sodium homeostasis | An abnormal concentration of sodium. |
| sepsis | Systemic disease associated with the presence of pathogenic microorganisms or their toxins in the blood.|Systemic inflammatory response syndrome with a proven or suspected infectious etiology. When sepsis is associated with organ dysfunction distant from the site of infection, it is called severe sepsis. When sepsis is accompanied by HYPOTENSION despite adequate fluid infusion, it is called SEPTIC SHOCK.|The presence of pathogenic microorganisms in the blood stream causing a rapidly progressing systemic reaction that may lead to shock. Symptoms include fever, chills, tachycardia, and increased respiratory rate. It is a medical emergency that requires urgent medical attention.|Septicemia caused by pyogenic microorganisms (e.g., STAPHYLOCOCCUS; BACILLUS), resulting in the formation of secondary foci of SUPPURATION and multiple ABSCESSES.|A disease of infectious agent resulting from the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. These pathogens are able to cause disease in animals and/or plants. Infectious pathologies are usually qualified as contagious disease (also called communicable disease) due to their potentiality of transmission from one person or species to another.|Sepsis associated with organ dysfunction distant from the site of infection. |
| abnormality of muscle morphology | A structural abnormality of a skeletal muscle. |
| neoplasm of the lung | Tumor of the lung. |
| cholelithiasis | Presence or formation of GALLSTONES in the BILIARY TRACT, usually in the gallbladder (CHOLECYSTOLITHIASIS) or the common bile duct (CHOLEDOCHOLITHIASIS). |
| rhabdomyolysis | Necrosis or disintegration of skeletal muscle often followed by myoglobinuria. |
| delayed eruption of permanent teeth | Delayed tooth eruption affecting the secondary dentition. |
| tremor | An unintentional, oscillating to-and-fro muscle movement. |
| memory impairment | An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. |
| neoplasm of the thyroid gland | A tumor (abnormal growth of tissue) of the thyroid gland. |
| secondary amenorrhea | |
| involuntary movements | Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. |
| urinary tract neoplasm | An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra. |
| abnormality of the ear | An abnormality of the ear. |
| chronic kidney disease | 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)|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. |
| recurrent infection of the gastrointestinal tract | Recurrent infection of the gastrointestinal tract. |
| dyslexia | |
| abnormality of the middle ear ossicles | An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea). |
| sick sinus syndrome | Xref MGI. |
| migraine with aura | A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon. |
| abnormality of cells of the monocyte/macrophage lineage | |
| immunodeficiency | |
| abnormality of lower limb joint | |
| borderline personality disorder | A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods. |
| ovarian cyst | Ovarian cysts are small fluid-filled sacs that develop in a woman's ovaries. |
| abnormal respiratory system morphology | A structural anomaly of the respiratoy system. |
| abnormality of the uvea | An abnormality of the uvea, the vascular layer of the eyeball. |
| biliary tract abnormality | |
| abnormal number of teeth | The presence of an altered number of of teeth. |
| abnormality of the abdominal organs | An abnormality of the viscera of the abdomen. |
| meningitis | Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents. |
| chronic colitis | A chronic inflammatory disease of the large intestine (colon, cecum and rectum). |
| decreased liver function | Reduced ability of the liver to perform its functions. |
| obstructive lung disease | |
| retinal detachment | OMIM mapping confirmed by DO. [SN]. |
| abnormality of the esophagus | An abnormality of the esophagus. |
| tetralogy of fallot | OMIM mapping confirmed by DO. [LS]. |
| increased bone mineral density | increase in the quatitative measurment value of mineral content of bone; BMD is used as an indicator of bone strength used as a measure of structural strength and screen for osteoporosis; bone mineral density is the ratio of bone mineral content to bone size |
| puberty and gonadal disorders | |
| abnormality of the retina | An abnormality of the retina. |
| hypotension | Blood pressure that is abnormally low. |
| aplasia/hypoplasia involving the central nervous system | Absence or underdevelopment of tissue in the central nervous system. |
| neoplasia of the pleura | |
| mouth neoplasm | A tumor (abnormal growth of tissue) of the mouth. |
| abnormality of the penis | |
| abnormality of blood circulation | An abnormality of blood circulation. |
| neoplasm of the genitourinary tract | A tumor (abnormal growth of tissue) of the genitourinary system. |
| abnormality of the radius | An abnormality of the radius. |
| abnormality of urine homeostasis | An abnormality of the composition of urine or the levels of its components. |
| biliary tract neoplasm | A hepatobiliary benign neoplasm located_in the biliary tract. |
| abnormality of the costochondral junction | Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. |
| autistic behavior | |
| abnormal hair pattern | An abnormality of the distribution of hair growth. |
| primary congenital glaucoma | Xref MGI. |
| abnormal circulating creatinine level | An abnormal concentration of creatinine in the blood. |
| abnormality of the cerebral cortex | An abnormality of the cerebral cortex. |
| abnormal peripheral nervous system morphology | |
| hyperactivity | |
| carious teeth | |
| venous abnormality | An anomaly of vein. |
| abnormality of extrapyramidal motor function | A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless). |
| sleep disturbance | An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness. |
| abnormality of bone marrow cell morphology | An anomaly of the form or number of cells in the bone marrow. |
| predominantly lower limb lymphedema | Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs. |
| decreased serum ceruloplasmin | A kind of Abnormality of copper homeostasis related to a decreased concentration of ceruloplasmin in the blood. |
| sarcoma | A usually aggressive malignant mesenchymal cell tumor most commonly arising from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the tumor. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma.|A malignant mesenchymal neoplasm arising exclusively from the soft tissues. Representative examples include soft tissue sarcoma, extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumor, and malignant hemangiopericytoma.|Neoplasms developing from some structure of the connective and subcutaneous tissue. The concept does not refer to neoplasms located in connective or soft tissue.|A cancer that affects connective tissue resulting in mesoderm proliferation.|A malignant mesenchymal neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones.|Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue. |
| abnormality of the liver | An abnormality of the liver. |
| abnormality of proteoglycan metabolism | An abnormality of proteoglycan metabolism. |
| gastrointestinal carcinoma | A gastrointestinal system cancer that has_material_basis_in epithelial cells. |
| reduced number of teeth | The presence of a reduced number of teeth as in Hypodontia or as in Anodontia. |
| abnormality of fluid regulation | An abnormality of the regulation of body fluids. |
| basal cell carcinoma | A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471). |
| intervertebral disc degeneration | The presence of degenerative changes of intervertebral disk. |
| migraine | A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing. |
| cerebral aneurysm | |
| autism | An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years. |
| endometrial carcinoma | A endometrial cancer that is located_in the tissue lining the uterus. |
| abnormality of upper limb metaphysis | An anomaly of one or more metaphyses of the arms. |
| abnormality of metabolism/homeostasis | |
| abnormality of the pylorus | An abnormality of the pylorus. |
| phenotypic variability | A variability of phenotypic features. |
| abnormality of adipose tissue | An abnormality of adipose tissue20110), which is loose connective tissue composed of adipocytes. |
| abnormal autonomic nervous system physiology | A functional abnormality of the autonomic nervous system. |
| abnormal platelet function | Any anomaly in the function of thrombocytes. |
| abnormality of the anterior pituitary | |
| recurrent mycobacterium avium complex infections | Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection. |
| abnormality of the nasopharynx | The nasopharynx (nasal part of the pharynx) lies behind the nose and above the level of the soft palate. |
| sclerotic forearm bones | |
| neoplasm by anatomical site | Neoplasm categorized according to the anatomical site of origin of the neoplasm. |
| abnormality of the intervertebral disk | An abnormality of the intervertebral disk. |
| aplasia/hypoplasia of the cerebrum | |
| aortic dilatation | |
| abnormality of the stapes | An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear. |
| abnormality of the gallbladder | An abnormality of the gallbladder. |
| knee osteoarthritis | |
| abnormality of the coagulation cascade | An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators. |
| vertebral body sclerosis | Increase in bone density of the vertebral body. |
| abnormality of the teeth | Any abnormality of the teeth. |
| abnormality of the left ventricle | An abnormality of the left ventricle of the heart. |
| abnormality of zinc homeostasis | An abnormality of zinc ion homeostasis. |
| abnormality of pelvic girdle bone morphology | An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. |
| nevus | |
| generalized abnormality of skin | An abnormality of the skin that is not localized to any one particular region. |
| abnormality of lower limb bone | |
| infertility | Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility. |
| crohn's disease | An intestinal disease that involves inflammation located_in intestine. |
| displacement of the external urethral meatus | A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina). |
| shortened pr interval | Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long. |
| neoplasia of the nasopharynx | |
| sclerosis of metaphyses of the upper limbs | |
| abnormality of lipid metabolism | |
| coronary artery disease | Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE).|Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause.|Narrowing of the coronary arteries due to fatty deposits inside the arterial walls.|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. |
| abnormality of b cells | An abnormality of B cells. |
| abnormality of the left ventricular outflow tract | An abnormality of the outflow tract of the left ventricle. |
| edema | An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. |
| abnormality of carbohydrate metabolism/homeostasis | An abnormality of the metabolism/homeostasis of a carbohydrate. |
| abnormality of muscle physiology | A functional abnormality of a skeletal muscle. |
| gonadotropin excess | Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland. |
| glioblastoma multiforme | The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell glioblastoma and gliosarcoma. (WHO)|Glial cell derived tumors arising from the optic nerve, usually presenting in childhood. Roughly 50% are associated with NEUROFIBROMATOSIS 1. Clinical manifestations include decreased visual acuity; EXOPHTHALMOS; NYSTAGMUS, PATHOLOGIC; STRABISMUS; pallor or swelling of the optic disc; and INTRACRANIAL HYPERTENSION. The tumor may extend into the optic chiasm and hypothalamus (MeSH).|A malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage, and necrosis. They may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. Clinical presentation most frequently occurs in the fifth or sixth decade of life with focal neurologic signs or seizures (MeSH).|A malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage, and necrosis. They may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. Clinical presentation most frequently occurs in the fifth or sixth decade of life with focal neurologic signs or seizures. |
| conotruncal defect | A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle. |
| elevated systolic blood pressure | Abnormal increase in systolic blood pressure. |
| viral hepatitis | A hepatitis that involves viral infection causing inflammation of the liver. |
| abnormality of the glial cells | An abnormality of the glia cell. |
| abnormality of dental structure | An abnormality of the structure or composition of the teeth. |
| abnormality of the upper arm | |
| abnormality of the ulna | An abnormality of the ulna bone of the forearm. |
| arteriosclerosis | An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries. |
| asthma | A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways.|Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory.|A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL).|A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, excercise, stress, reflux disease, medications, foods and emotional anxiety. |
| peripheral primitive neuroectodermal neoplasm | A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone. |
| abnormality of the femoral head | An abnormality of the femoral head. |
| abnormality of corneal endothelium | Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea. |
| abnormality of lymphocytes | An abnormality of lymphocytes. |
| neoplasm | A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias. |
| muscle abnormality related to mitochondrial dysfunction | |
| abnormality of corneal thickness | An abnormal anteroposterior thickness of the cornea. |
| hypospadias | A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum. |
| abnormality of the mouth | An abnormality of the mouth. |
| abnormality of the vitamin b12 metabolism | |
| malignant neoplasm of the central nervous system | |
| abnormality of limb bone morphology | Any abnormality of bones of the arms or legs. |
| abnormal muscle tone | |
| renal insufficiency | |
| abnormality of magnesium homeostasis | An abnormality of magnesium ion homeostasis. |
| testicular dysgenesis | |
| abnormality of the small intestine | An abnormality of the small intestine. |
| abnormality of the genital system | An abnormality of the genital system. |
| lymphoma | A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas.|A cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.|A general term for various neoplastic diseases of the lymphoid tissue.|Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease. |
| craniofacial disproportion | |
| abnormal diaphysis morphology | An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone. |
| gonadal neoplasm | A tumor (abnormal growth of tissue) of a gonad. |
| pleural mesothelioma | A Malignant mesothelioma originating from cells of the pleura (the thin layer of mesothelium lining the lungs). Pleural mesothelioma is the most common form of mesothelioma. |
| left ventricular hypertrophy | |
| dermatological manifestations of systemic disorders | |
| abnormality of the aorta | An abnormality of the aorta. |
| abnormality of the female genitalia | Abnormality of the female genital system. |
| abnormality of the humerus | An abnormality of the humerus (i.e., upper arm bone). |
| abnormality of cardiovascular system physiology | Abnormal functionality of the cardiovascular system. |
| morphological abnormality of the central nervous system | A structural abnormality of the central nervous system. |
| abnormality of complement system | An abnormality of the complement system. |
| ischemic stroke | |
| abnormal spermatogenesis | Incomplete maturation or aberrant formation of the male gametes. |
| cutaneous photosensitivity | An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. |
| abnormality of cells of the erythroid lineage | An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes. |
| chorioretinal abnormality | An abnormality of the choroid and retina. |
| prolonged pr interval | Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex). |
| abnormality of sulfur amino acid metabolism | An abnormality of a sulfur amino acid metabolic process. |
| decreased testosterone in males | |
| abnormality of circulating cortisol level | An abnormality of the concentration of cortisol in the blood. |
| abnormality of prothrombin | An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade. |
| germinoma | A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain. |
| short attention span | Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder. |
| abnormality of the curvature of the vertebral column | The presence of an abnormal curvature of the vertebral column. |
| barrett esophagus | Metaplasia of the lower esophagus that is characterized by replacement of squamous epithelium with columnar epithelium, occurs especially as a result of chronic gastroesophageal reflux, and is associated with an increased risk for esophageal carcinoma. |
| breast carcinoma | Tumors or cancer of the human BREAST.|A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla.|A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla.|A carcinoma that derives_from breast tissue.|Cancer of the human MAMMARY GLAND.|Tumor or cancer of the human MAMMARY GLAND.|A carcinoma that originates from breast tissue. |
| iga deposition in the glomerulus | |
| non-hodgkin lymphoma | A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma. |
| abnormality of coagulation | An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot. |
| abnormality of the cervical spine | Any abnormality of the cervical vertebral column. |
| paresthesia | Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. |
| neuroblastoma | A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation.|A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51)|A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome (MeSH). |
| abnormality of the skull | An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones. |
| hepatitis | |
| hepatic steatosis | The presence of steatosis in the liver. |
| ileus | |
| abnormality of carboxylic acid metabolism | An abnormality of the metabolism of a carboxylic acid. |
| neuroblastic tumors | Along with neuroblastomas, ganglioneuromas and ganglioneuroblastomas are collectively known as neuroblastic tumors. |
| hemolytic anemia | A type of anemia caused by premature destruction of red blood cells (hemolysis). |
| atrophy/degeneration affecting the central nervous system | |
| generalized osteosclerosis | An abnormal increase of bone mineral density with generalized involvement of the skeleton. |
| cardiac valve calcification | Abnormal calcification of a cardiac valve. |
| embryonal neoplasm | A germ cell cancer that is associated with an embryo. |
| colon cancer | A colorectal cancer that is located_in the colon. |
| abnormality of the middle ear | An abnormality of the middle ear. |
| abnormality of the pancreas | An abnormality of the pancreas. |
| cardiomyopathy | 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).|A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. |
| hepatic granulomatosis | The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes. |
| abnormality of skeletal morphology | An abnormality of the form, structure, or size of the skeletal system. |
| abnormality of the lens | |
| anomaly of the upper limb diaphyses | A structural abnormality of a diaphysis of the arm. |
| supraventricular tachycardia | Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles. |
| glaucoma | An ocular disease, occurring in many forms, having as its primary characteristics an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. The consequences of the increased pressure may be manifested in a variety of symptoms, depending upon type and severity, such as excavation of the optic disk, hardness of the eyeball, corneal anesthesia, reduced visual acuity, seeing of colored halos around lights, disturbed dark adaptation, visual field defects, and headaches. (Dictionary of Visual Science, 4th ed)|Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. |
| abnormality of b cell physiology | An abnormality of the physiological functioning of B cells. |
| spinal rigidity | Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion. |
| insulin resistance | diminished effectiveness of insulin in lowering plasma glucose levels |
| abnormality of body weight | An abnormal increase or decrease of weight or an abnormal distribution of mass in the body. |
| ectopic calcification | Deposition of calcium salts in a tissue or location in which calcification does not normally occur. |
| abnormality of temperature regulation | An abnormality of temperature homeostasis. |
| thyroid carcinoma | |
| impaired left ventricular function | |
| abnormality of the systemic arterial tree | An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries. |
| abnormality of the rib cage | A morphological anomaly of the rib cage. |
| chronic | Slow, creeping onset, slow progress and long continuance of disease manifestations. |
| cognitive impairment | Abnormality in the process of thought including the ability to process information. |
| abnormality of glycoprotein metabolism | An abnormality of a glycoprotein metabolic process. |
| coronary artery stenosis | |
| anorexia | A lack or loss of appetite for food (as a medical condition). |
| abnormality of vitamin e metabolism | |
| depletion of mitochondrial dna in muscle tissue | |
| glomerulosclerosis | A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney. |
| abnormality of cell physiology | An abnormality in a cellular process. |
| abnormality of the eye | |
| precocious menopause | |
| hepatocellular carcinoma | A primary malignant neoplasm of epithelial liver cells. It ranges from a well-differentiated tumor with EPITHELIAL CELLS indistinguishable from normal HEPATOCYTES to a poorly differentiated neoplasm. The cells may be uniform or markedly pleomorphic, or form GIANT CELLS. Several classification schemes have been suggested.|Tumors or cancer of the LIVER.|A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation. --2002|A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation. |
| myoclonus | Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. |
| costochondral joint sclerosis | Abnormal increase in density of the tissue at the costochondral junctions. |
| abnormality of the retinal vasculature | An arterial or venous retinal vascular anomaly. |
| language impairment | |
| decreased pulmonary function | |
| vasculitis | A vascular disease that is characterized by inflammation of the blood vessels. |
| abnormality of skin pigmentation | An abnormality of the pigmentation of the skin. |
| abnormality of ion homeostasis | Abnormality of the homeostasis (concentration) of a monoatomic ion. |
| hearing impairment | A decreased magnitude of the sensory perception of sound. |
| abnormality of the nervous system | An abnormality of the nervous system. |
| orthostatic hypotension | A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position. |
| venous thrombosis | Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. |
| mortality/aging | |
| abnormal hemoglobin | Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes. |
| neuroectodermal neoplasm | A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells. |
| peripheral arterial disease | |
| abnormality of macrophages | An abnormality of macrophages. |
| craniofacial osteosclerosis | Abnormally increased density of craniofacial bone tissue. |
| abnormality of calcium homeostasis | An abnormality of calcium ion homeostasis. |
| delayed eruption of teeth | Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. |
| rhinitis | A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip. |
| dyskinesia | A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements. |
| personality disorder | A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work. |
| abnormality of male external genitalia | An abnormality of male external genitalia. |
| myopia | A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness. |
| psychosis | A disorder characterized by personality change, impaired functioning, and loss of touch with reality. It may be a manifestation of schizophrenia, bipolar disorder or brain tumor. |
| scoliosis | An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed) |
| aneurysm | Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart. |
| chronic obstructive pulmonary disease | A group of disorders affecting the bronchi and the lung parenchyma. It is characterized by chronic and irreversible obstruction of the airflow. It includes chronic bronchitis and pulmonary emphysema.|A disease of chronic diffuse irreversible airflow obstruction. Subcategories of COPD include CHRONIC BRONCHITIS and PULMONARY EMPHYSEMA.|A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema. |
| impotence | |
| abnormality of body height | Deviation from the norm of height with respect to that which is expected according to age and gender norms. |
| intestinal bleeding | Bleeding from the intestines. |
| prostate cancer | A male reproductive organ cancer that is located_in the prostate. |
| abnormal internal genitalia | An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male). |
| abnormality of polysaccharide metabolism | An abnormality of the metabolism of polysaccharide. |
| abnormality of the intrinsic pathway | An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade. |
| benign neoplasm of the central nervous system | |
| non-caseating epithelioid cell granulomatosis | The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese). |
| neoplasm of the skeletal system | A tumor (abnormal growth of tissue) of the skeleton. |
| hypertension | Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more. |
| abnormality of eosinophils | An eosinophil abnormality. |
| abnormality of the macula | An abnormality of the macula lutea is an oval-shaped highly pigmented yellow spot near the center of the retina. |
| graves disease | An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland. |
| abnormal glucose homeostasis | Abnormality of glucose homeostasis. |
| abnormality of epidermal morphology | An abnormality of the morphology of the epidermis. |
| abnormality of higher mental function | Cognitive, psychiatric or memory anomaly. |
| torsade de pointes | A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG. |
| melanoma | A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445)|A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. |
| congestive heart failure | Heart failure caused by dysfunction of the MYOCARDIUM, leading to defective cardiac emptying (contraction) or filling (relaxation).|Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales.|Heart failure involving the LEFT VENTRICLE.|Heart failure involving the RIGHT VENTRICLE.|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.|1. inadequacy of the heart so that as a pump it fails to maintain the circulation of blood, with the result that congestion and edema develop in the tissues; SEE ALSO forward heart failure, backward heart failure, right ventricular failure, left ventricular failure. SYN cardiac failure, cardiac insufficiency, congestive heart failure, myocardial insufficiency. 2. resulting clinical syndromes including shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales in various combinations.|Heart failure accompanied by EDEMA, such as swelling of the legs and ankles and congestion in the lungs. |
| atopic dermatitis | A dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking. |
| acute myeloid leukemia | Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES. |
| choroidal sclerosis | OMIM mapping confirmed by DO. [SN]. |
| diarrhea | A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea. |
| patchy sclerosis of radial diaphysis | |
| abnormal renal morphology | Any structural anomaly of the kidney. |
| abnormality of limb bone | |
| specific learning disability | Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. |
| neuroepithelial neoplasm | A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium. |
| sensory neuropathy | A peripheral neuropathy that involves damage to nerves of the peripheral nervous system. |
| chronic hepatitis | |
| varicose veins | A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin. |
| focal motor seizures | Focal seizures involving musculature in any form. |
| abnormality of the ribs | An anomaly of the rib. |
| gastrointestinal dysmotility | Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes. |
| abnormality of nucleobase metabolism | An abnormality of a nucleobase metabolic process. |
| abnormality of the forearm | An abnormality of the lower arm. |
| anomaly of the limb diaphyses | A structural abnormality of a diaphysis of the arm or leg. |
| abnormality of purine metabolism | |
| abnormality of serum cytokine level | Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells. |
| abnormality of immune system physiology | A functional abnormality of the immune system. |
| hyperinsulinemia | |
| abnormality of circulating leptin level | An abnormal concentration of leptin in the blood. |
| otitis media | A otitis which involves inflammation of the middle ear. |
| abnormality of the nephron | A structural anomaly of the nephron. |
| shortened qt interval | Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). |
| hodgkin lymphoma | A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell. |
| recurrent bacterial infections | Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection. |
| amenorrhea | |
| abnormality of circulating glucocorticoid level | An abnormality of the concentration of a glucocorticoid in the blood. |
| amyloidosis | An acquired metabolic disease that involves abnormal deposited of amyloid proteins in organs and/or tissues. |
| abnormality of the level of lipoprotein cholesterol | An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood. |
