Disease Guide

Definition Aarskog-Scott syndrome is a rare X-linked recessive genetic syndrome characterized by facial, skeletal, and genital anomalies. Symptoms Round face, hypertelorism Short stature Severe

Definition: An abdominal aortic aneurysm is a localized dilatation of the abdominal aortic wall. Symptoms: Usually asymptomatic; Pulsating sensation in the abdomen; Back pain; Hypotension (in case of rupture); Causes: Atherosclerosis, hypertension, genetics. Diagnosis: Ultrasound.,

Definition Achondrogenesis is a rare skeletal dysplasia characterized by severe short stature, rib cage hypoplasia, and a lethal course. Symptoms Severe short stature, rib cage hypoplasia, and hydrops

Definition Acromesomelic dysplasia is a rare skeletal dysplasia characterized by significant shortness of the hands and feet. Symptoms Shortness of hands and feet Short stature Normal intelligence Progressive deformities

Definition: Addison's disease is a disease characterized by a deficiency of the hormones cortisol and aldosterone, resulting from inadequate adrenal gland function. Symptoms include severe fatigue, weight loss, and darkening of the skin.

Definition Adenomyosis is the presence of endometrial tissue within the uterine muscle layer. Symptoms Severe menstrual pain Heavy menstrual bleeding Chronic pelvic pain Uterine enlargement Causes Hormonal factors, inflammation,

Definition Adrenoleukodystrophy is an X-linked recessive metabolic disease characterized by adrenal insufficiency and progressive neurological impairment. Symptoms Adrenal insufficiency Neurological decline Vision and hearing loss

Definition: Familial Mediterranean fever is an autosomal recessive disease characterized by recurrent attacks of fever, serositis, and arthritis. Symptoms: Recurrent fever, abdominal pain, chest pain, arthritis. Causes:

Definition: Pulmonary edema is the accumulation of fluid in the lung tissue. Symptoms: Shortness of breath, cough, pink, frothy sputum, rapid breathing. Causes: Heart failure, kidney failure, lung damage. Diagnosis: Pulmonary

Achondroplasia is a hereditary disease characterized by short stature and disproportionate dwarfism. Symptoms: Short stature, large head, lordosis, short limbs. Cause: FGFR3 gene mutation. Diagnosis:

Definition Acromegaly is a disease characterized by growth in the extremities of the body, such as the hands, feet, and jaw, in adults, as a result of excessive secretion of growth hormone (GH) from an adenoma in the pituitary gland.

Definition Acute bacterial sinusitis is a bacterial infection of the paranasal sinuses. Symptoms Facial pain and a feeling of pressure Nasal congestion Yellow-green nasal discharge Fever Causes Bacterial infection, viral upper

Definition: Acute bronchitis is a short-term inflammation of the airways called bronchi, usually caused by viral infections. Symptoms: Cough, low-grade fever, heartburn, and wheezing.

Definition Acute pharyngitis is the sudden onset of inflammation of the pharynx. Symptoms Sore throat Difficulty swallowing Dry throat Fever Causes Viral or bacterial infections. Diagnosis Clinical examination, throat culture.

Definition: Acute gastroenteritis is a sudden-onset infection of the stomach and intestines. Symptoms: Diarrhea, nausea and vomiting, abdominal pain, fever. Causes: Viral, bacterial, or parasitic infections. Diagnosis: Clinical

Definition: Acute cholangitis is a bacterial infection of the bile ducts. Symptoms: Fever, jaundice, abdominal pain, hypotension. Causes: Bile duct obstruction, bacterial infection. Diagnosis: Blood tests, ultrasound, MRCP. Treatment:

Definition Acute cholecystitis is the sudden inflammation of the gallbladder. Symptoms Right upper quadrant pain Nausea and vomiting Fever Murphy's sign Causes Gallstones, infection. Diagnosis Abdominal ultrasound,

Definition: Acute leukemia is a malignant disease characterized by the uncontrolled proliferation of immature blood cells. Symptoms: Fever, fatigue, bone pain, and bleeding. Causes: Genetic mutations, radiation, and chemicals. Diagnosis:

Definition: Acute otitis media is a sudden-onset infection of the middle ear. Symptoms: Earache, Fever, Hearing loss, Feeling of fullness in the ear. Causes: Bacterial or viral infections, Eustachian tube

Definition: Acute pancreatitis is a serious illness that develops as a result of sudden inflammation of the pancreas. Symptoms: Severe abdominal pain, nausea and vomiting, fever, and abdominal tenderness. Causes: Gallstones, alcohol

Definition: Acute pyelonephritis is a bacterial infection of the kidney parenchyma. Symptoms: High fever, flank pain, nausea and vomiting, and burning sensation during urination. Causes: Bacterial infection, usually E. coli. Diagnosis:

Definition: Acute prostatitis is a sudden bacterial infection of the prostate gland. Symptoms: Fever, groin pain, difficulty urinating, frequent urination. Causes: Bacterial infection, urinary tract infection. Diagnosis:

Definition: Acute rheumatic fever is an autoimmune disease that develops following infection with group A beta-hemolytic streptococcus. Symptoms: Migratory arthritis, Carditis, Chorea, Erythema marginatum, Causes: Streptococcal infection.

Definition: Acute tonsillitis is a sudden inflammation of the tonsils. Symptoms: Sore throat, difficulty swallowing, fever, swollen lymph nodes in the neck. Causes: Viral or bacterial infections. Diagnosis: Clinical examination, throat

Definition Alagille syndrome is an inherited disorder characterized by bile duct hypoplasia, congenital heart disease, and a characteristic facial appearance. Symptoms include bile duct hypoplasia and peripheral pulmonary stenosis.

Definition Allergic rhinitis is inflammation of the nasal mucosa due to allergens. Symptoms Sneezing Runny nose Nasal congestion Itchy nose and eyes Causes Pollen, house dust mites, animal dander.

Definition: Alkaptonuria is a metabolic disease characterized by a deficiency of the enzyme homogentisate dioxygenase, causing urine to darken upon exposure to air and ochronosis. Symptoms: Dark urine, ochronosis, arthritis

Definition: Alcohol-related liver disease is liver damage caused by chronic alcohol use. Symptoms: Weakness, jaundice, abdominal distension, loss of appetite. Causes: Chronic alcohol consumption. Diagnosis: Liver function tests,

Definition: Alcohol-induced cardiomyopathy is heart muscle damage caused by chronic alcohol use. Symptoms: Shortness of breath, palpitations, leg swelling, fatigue. Causes: Chronic alcohol consumption. Diagnosis: Echocardiography, ECG,

Definition Alcohol-induced pancreatitis is inflammation of the pancreas due to chronic alcohol use. Symptoms Severe abdominal pain Nausea and vomiting Weight loss Fatty diarrhea Causes Chronic alcohol consumption.

Definition: Alpha-1 antitrypsin deficiency is an inherited metabolic disease that causes damage to the liver and lungs. Symptoms: Shortness of breath, jaundice, liver failure, early emphysema. Causes: SERPINA1 gene

Definition: ALS is a neurological disease characterized by the progressive degeneration of motor neurons. Symptoms: Muscle weakness, Muscle atrophy, Difficulty speaking and swallowing, Respiratory problems. Causes: Unknown, genetic.

Definition Alstrom syndrome is a rare autosomal recessive genetic disorder characterized by infantile cardiomyopathy, childhood-onset obesity, cone photoreceptor dystrophy, hearing loss, and insulin resistance.

Definition: Alzheimer's disease is a neurodegenerative disease characterized by progressive loss of memory and cognitive function. Symptoms: Memory loss, Disorientation, Behavioral changes, Difficulty with daily activities. Causes: Amyloid.

Definition Amyloidosis is a disease characterized by the deposition of amyloid proteins in tissues. Symptoms Fatigue Weight loss Edema Neuropathy Causes Primary, secondary, hereditary. Diagnosis Biopsy, bone marrow aspiration.

Definition: An anal fissure is defined as a linear ulceration or crack in the distal anal canal. Symptoms: Severe pain during defecation, bright red rectal bleeding, itching in the anal area, and bowel movements.

Definition: Anemia is a decrease in the amount of hemoglobin or red blood cells in the blood. Symptoms: Fatigue, weakness, paleness, shortness of breath. Causes: Iron deficiency, B12 deficiency, chronic diseases. Diagnosis: Complete

Definition Angelman syndrome is a genetic disorder characterized by severe developmental delay and episodes of happiness. Symptoms Developmental delay Absence of speech Ataxic gait Frequent laughter Causes 15.

Definition: Ankylosing spondylitis is a chronic inflammatory disease affecting the spine and sacroiliac joints. Symptoms: Low back pain, morning stiffness, limited movement, fatigue. Causes: Genetic (HLA-B27), autoimmune. Diagnosis:

Definition: Ankylosing spondylitis is a chronic inflammatory disease affecting the spine and sacroiliac joints. Symptoms: Low back pain, morning stiffness, limited movement, fatigue. Causes: Genetic (HLA-B27), autoimmune. Diagnosis:

Definition: Excessive feelings of worry, anxiety, and fear that interfere with daily life. Symptoms: Excessive worry, restlessness, difficulty concentrating, sleep disturbances. Causes: Genetics, environmental factors, brain

Definition: Coarctation of the aorta is a congenital heart disease characterized by narrowing of the aorta. Symptoms: High blood pressure, headache, nosebleeds, weakness in the legs. Causes: Congenital developmental disorder. Diagnosis:

Definition Aortic stenosis is a heart disease characterized by narrowing of the aortic valve. Symptoms Chest pain Shortness of breath Fainting Palpitations Causes Congenital, rheumatic fever, aging. Diagnosis Echocardiography, ECG.

Definition: Apert syndrome is a congenital syndrome characterized by craniosynostosis, facial hypoplasia, and syndactyly. Symptoms: Craniosynostosis, facial hypoplasia, syndactyly, developmental delay. Causes: FGFR2 gene mutation. Diagnosis:

Definition: Aplastic anemia is a disease characterized by inadequate blood cell production by the bone marrow. Symptoms: Weakness, susceptibility to infection, bleeding, paleness. Causes: Autoimmune, toxins, viral infections. Diagnosis:

Definition: Appendicitis is a surgical emergency resulting from inflammation of the appendix. Symptoms: Abdominal pain, nausea and vomiting, fever, loss of appetite. Causes: Appendiceal obstruction, infection. Diagnosis: Physical examination,

Definition: Asphyxiating thoracic dysplasia is a rare skeletal dysplasia characterized by a narrow rib cage, short limbs, and respiratory failure. Symptoms: Narrow rib cage, short limbs, and polydactyly.

Definition: Astigmatism is a blurry image caused by an irregularity in the curvature of the cornea or lens. Symptoms: Blurred vision at distance and near, Seeing halos of light, Eye strain, Headaches. Causes:

Definition: Asthma is a respiratory disease characterized by recurrent attacks of shortness of breath, wheezing, and coughing, resulting from chronic inflammation of the airways. Symptoms: Shortness of breath in the form of attacks

Definition Ataxia-telangiectasia is a rare autosomal recessive genetic disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasias, immunodeficiency, and cancer predisposition. Symptoms Progressive ataxia Eye

Definition Atrial fibrillation is a type of arrhythmia characterized by irregular and rapid heartbeat. Symptoms include palpitations, shortness of breath, fatigue, and dizziness. Causes include hypertension, valvular heart disease,

Definition: Atrial septal defect is a hole in the septum between the atria of the heart. Symptoms: Fatigue, shortness of breath, frequent lung infections, palpitations. Causes: Congenital developmental disorders. Diagnosis: Echocardiography.,

Definition: Bardet-Biedl syndrome is an autosomal recessive ciliopathic disease characterized by obesity, retinal dystrophy, polydactyly, renal anomalies, hypogonadism, and learning disabilities. Symptoms: Obesity, Retinitis pigmentosa

Definition Bartter syndrome is a rare, autosomal recessive renal tubulopathy characterized by malabsorption of sodium and chloride in the thick ascending limb of the loop of Henle. Symptoms: Polyuria, polydipsia

Definition Basedow-Graves disease is an autoimmune cause of hyperthyroidism caused by thyroid-stimulating immunoglobulin (TSI). Symptoms: Palpitations, Weight loss, Irritability, Exophthalmos (protruding eyes). Causes: Autoimmune, genetic.

Definition Becker muscular dystrophy is an X-linked recessive disease characterized by an abnormality of the dystrophin protein, similar to Duchenne but with a milder course. Symptoms include slowly progressive muscle

Definition: Beckwith-Wiedemann syndrome is a syndrome characterized by macroglossia, omphalocele, and cancer risk. Symptoms: Macroglossia, omphalocele, visceromegaly, risk of Wilms tumor. Causes: 11p15.5 imprinting defect. Diagnosis: Clinical

Definition: Behçet's disease is a systemic vasculitis characterized by recurrent oral and genital ulcers. Symptoms: Aphthous ulcers, genital ulcers, eye inflammation, skin lesions. Causes: Autoimmune and genetic factors. Diagnosis:

Definition: Behçet's disease is a systemic vasculitis characterized by recurrent oral and genital ulcers. Symptoms: Aphthous ulcers, genital ulcers, eye inflammation, skin lesions. Causes: Autoimmune and genetic factors. Diagnosis:

Definition: Bell's palsy is a sudden, idiopathic peripheral paralysis of the facial nerve. Symptoms: Drooping of one side of the face, inability to close the eye, drooping of the mouth, taste disturbance. Causes: Viral infection, autoimmune disease.

Bell's palsy is a sudden paralysis of the facial nerve (7th cranial nerve). Symptoms include: drooping of one side of the face, inability to close the eye, drooping of the mouth, taste disturbances. Causes: Viral.

Definition BPPV is a peripheral vestibular disorder characterized by brief attacks of vertigo triggered by head movements. Symptoms include: dizziness triggered by head movements, nausea, loss of balance, and involuntary eye movements.

Definition Benign prostatic hyperplasia is a benign enlargement of the prostate gland. Symptoms: Frequent urination, Waking up at night to urinate, Weak urine stream, Difficulty urinating. Causes: Aging, hormonal

Definition: BPH is a benign enlargement of the prostate gland. Symptoms: Frequent urination, waking up at night to urinate, weak urine stream, difficulty urinating. Causes: Aging, hormonal changes. Diagnosis:

Definition: A brain hemorrhage is bleeding in or around the brain. Symptoms: Sudden, severe headache, loss of consciousness, nausea and vomiting, seizures. Causes: Hypertension, aneurysm, trauma, bleeding.

Definition A brain tumor is a disease characterized by abnormal cell growth in brain tissue. Symptoms Headache Nausea and vomiting Seizures Visual disturbances Causes Genetic factors, radiation,

Definition Birt-Hogg-Dubé syndrome is an inherited syndrome characterized by fibrofolliculomas, lung cysts, and kidney cancer. Symptoms Fibrofolliculomas Pneumothorax Kidney cancer Lung cysts Causes FLCN gene mutation.

Definition: Bloom syndrome is a rare autosomal recessive genetic disorder characterized by short stature, facial telangiectasias, immunodeficiency, and a predisposition to cancer. Symptoms: Intrauterine growth retardation

Definition: Kidney stones are hard masses formed by mineral and salt accumulation in the kidneys. Symptoms: Severe flank pain, nausea and vomiting, blood in the urine, frequent urination, and inadequate urine flow.

Definition Cardiofaciocutaneous syndrome is an inherited disorder characterized by congenital heart defects, characteristic facial appearance, and skin anomalies. Symptoms Congenital heart defect Characteristic face Keratosis pilaris

Definition Carney complex is a rare autosomal dominant genetic syndrome characterized by multiple myxomas, skin pigmentation, and various endocrine tumors. Symptoms Cardiac myxomas Skin lentigines and

Definition: Cartilage-hair hypoplasia is a rare skeletal dysplasia characterized by short stature, thin hair, and immunodeficiency. Symptoms: Short stature, thin hair, immunodeficiency, anemia. Causes:

Definition: Charcot-Marie-Tooth disease is an inherited neurological disorder characterized by progressive degeneration of peripheral nerves. Symptoms: Weakness in the feet and legs, Muscle atrophy, Loss of sensation, Foot deformities. Causes:

Definition CHARGE syndrome is a syndrome characterized by coloboma, heart defect, choanal atresia, retardation, genital and ear anomalies. Symptoms Coloboma Congenital heart defect Choanal atresia Hearing

Definition Cholesteryl ester storage disease is a mild form of acid lipase deficiency and is a lysosomal storage disease characterized by hepatomegaly and hypercholesterolemia. Symptoms Hepatomegaly Hypercholesterolemia Early

Definition: Cleidocranial dysplasia is a hereditary bone disease characterized by clavicle hypoplasia, cranial anomalies, and dental anomalies. Symptoms: Clavicle hypoplasia, cranial anomalies, dental anomalies, short stature.

Definition CLOVES syndrome is a rare disease characterized by Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Scoliosis. Symptoms Congenital Lipomatous Overgrowth Vascular Malformations Epidermal Nevi

Definition: Cockayne syndrome is a rare, autosomal recessive genetic disorder characterized by microcephaly, developmental delay, neurological abnormalities, and photosensitivity. Symptoms: Microcephaly, developmental delay, neurological regression

Definition Cohen syndrome is a rare genetic syndrome transmitted in an autosomal recessive manner, characterized by obesity, hypotonia, mental retardation, characteristic facial appearance, and neutropenia. Symptoms include developmental delay and

Definition: Cornelia de Lange syndrome is a hereditary disorder characterized by developmental delay, characteristic facial appearance, and upper extremity anomalies. Symptoms: Developmental delay, characteristic facial features, and microcephaly.

Definition: Costello syndrome is an inherited disorder characterized by a coarse facial appearance, skin laxity, and an increased risk of cancer. Symptoms: Coarse facial appearance, skin laxity, developmental delay, and cancer.

Definition COVID-19 is a respiratory infection caused by the SARS-CoV-2 virus. Symptoms include fever, cough, shortness of breath, loss of taste and smell, and SARS-CoV-2 virus. Diagnosis is by PCR test, antigen

Definition Cowden syndrome is an inherited syndrome characterized by multiple hamartomas and an increased risk of cancer. Symptoms Mucocutaneous lesions Thyroid cancer Breast cancer Macrocephaly Causes PTEN gene mutation.

Definition: CPT II deficiency is a metabolic disease characterized by a defect in long-chain fatty acid oxidation, accompanied by rhabdomyolysis and myoglobinuria. Symptoms: Exercise intolerance, rhabdomyolysis, myoglobinuria

Definition: Cri du Chat syndrome is a syndrome characterized by a cat-like cry, developmental delay, and microcephaly. Symptoms: Cat crying, Developmental delay, Microcephaly, Hypertelorism, Causes

Definition: Crouzon syndrome is a congenital syndrome characterized by craniosynostosis and midface hypoplasia. Symptoms: Craniosynostosis, exophthalmos, midface hypoplasia, hearing loss. Causes: FGFR2 gene mutation. Diagnosis: Clinical

Definition: Cushing's syndrome is a condition that occurs when the body is exposed to high levels of the hormone cortisol for a long time. Symptoms include: Moon face, Trunk obesity, and purple skin.

Definition Cutis laxa is a rare connective tissue disease characterized by sagging and lax skin, pulmonary emphysema, and cardiovascular anomalies. Symptoms: Sagging skin, pulmonary emphysema, cardiovascular

Definition Danon disease is an X-linked dominant disease characterized by cardiomyopathy, myopathy, and mental retardation, resulting from a mutation in the LAMP2 gene. Symptoms Hypertrophic cardiomyopathy Skeletal muscle

Definition: De Barsy syndrome is a rare autosomal recessive genetic disorder characterized by cutaneous laxity, corneal opacities, progeroid appearance, and neurological abnormalities. Symptoms: Cutaneous laxity

Definition: Retinal detachment is the separation of the retina from the tissue beneath it. Symptoms: Flashes of light, floaters, a curtain falling across the visual field, and sudden vision loss. Causes: Eye trauma, high myopia, diabetes.,

Definition: Iron deficiency anemia is a type of anemia that develops due to a lack of iron in the body. Symptoms: Fatigue, pale skin, hair loss, brittle nails. Causes: Blood loss, insufficient iron.

Definition: A mental disorder characterized by depressed mood, loss of interest, and lack of energy lasting at least two weeks. Symptoms: Depressed mood, loss of interest and pleasure

Definition: Deep vein thrombosis is the formation of a blood clot in the deep veins. Symptoms: Leg pain, swelling, redness, tenderness. Causes: Immobility, surgery, hypercoagulability. Diagnosis: Doppler ultrasound, D-dimer. Treatment: Anticoagulants.,

Definition: Deep vein thrombosis is the formation of a blood clot in the deep veins. Symptoms: Leg pain, swelling, redness, tenderness. Causes: Immobility, surgery, coagulation disorders. Diagnosis: Doppler ultrasound, D-dimer. Treatment:

Definition Dermatomyositis is an autoimmune disease characterized by muscle inflammation and characteristic skin rashes. Symptoms Muscle weakness Gottron papules Heliotrope rash Difficulty swallowing Causes Autoimmune mechanisms.

Definition Dermatomyositis is an autoimmune disease characterized by muscle inflammation and characteristic skin rashes. Symptoms Muscle weakness Gottron papules Heliotrope rash Difficulty swallowing Causes Autoimmune mechanisms.

Definition: Giant cell arteritis is a systemic vasculitis affecting large arteries. Symptoms: Headache, vision loss, jaw claudication, polymyalgia rheumatica. Causes: Autoimmune mechanisms. Diagnosis: Sedimentation, temporal artery

Definition: Giant cell arteritis is a systemic vasculitis affecting large arteries. Symptoms: Headache, vision loss, jaw claudication, polymyalgia rheumatica. Causes: Autoimmune mechanisms. Diagnosis: Sedimentation, temporal artery

Definition: Nasal septum deviation is the curvature of the cartilage and bone structure in the midline of the nose. Symptoms: Nasal congestion, difficulty breathing, one-sided obstruction, snoring. Causes: Congenital, traumatic,

Definition Diabetes insipidus is a disease characterized by excessive urine output and thirst due to deficiency or resistance to antidiuretic hormone (ADH). Symptoms: Excessive urination (polyuria).

Definition: Diastrophic dysplasia is a rare skeletal dysplasia characterized by short stature, limb deformities, and ear deformities. Symptoms: Short stature, limb deformities, ear deformities, scoliosis, and causes.

Definition: DiGeorge syndrome is a syndrome characterized by thymic hypoplasia, congenital heart defects, and hypocalcemia. Symptoms: Congenital heart defect, Hypocalcemia, Thymic hypoplasia, Cleft palate. Causes: 22q11.2

Definition ADHD is a neurodevelopmental disorder characterized by inattention, hyperactivity, and impulsivity. Symptoms Inattention Hyperactivity Impulsivity Organizational difficulties Causes Genetics, neurotransmitter imbalances, environmental factors.

Definition: Dysfunctional uterine bleeding is abnormal uterine bleeding without an organic cause. Symptoms: Irregular menstrual bleeding, Excessive bleeding, Prolonged bleeding, Breakthrough bleeding. Causes: Hormonal imbalance.,

Definition: Disseminated intravascular coagulation (DIC) is a life-threatening condition characterized by systemic coagulation activation and consumptive coagulopathy. Symptoms: Generalized bleeding, organ failure, shock, and skin purpura.

Definition Donohue syndrome is a severe autosomal recessive disorder characterized by extreme insulin resistance, growth retardation, characteristic facial appearance, and endocrine disorders. Symptoms include severe growth

Definition Down syndrome is a genetic condition resulting from trisomy of chromosome 21. Symptoms Typical facial appearance Mental retardation Developmental delay Heart defects Causes Trisomy 21, translocation,

Definition Duchenne muscular dystrophy is an X-linked recessive disease characterized by progressive muscle weakness resulting from a deficiency of the protein dystrophin. Symptoms Progressive muscle weakness Difficulty walking

Definition: Dyskeratosis congenita is a rare genetic disease characterized by leukoplakia, nail dystrophy, and skin pigmentation, along with a risk of bone marrow failure and cancer. Symptoms: Mucosal leukoplakia

Definition: Ehlers-Danlos syndrome is a group of inherited connective tissue diseases characterized by impaired collagen synthesis. Symptoms: Hypermobility, Skin hyperelasticity, Easy bruising, Delayed wound healing. Causes: Collagen

Definition Eclampsia is a serious complication of pregnancy characterized by the addition of convulsions to the symptoms of preeclampsia. Symptoms include tonic-clonic seizures, loss of consciousness, severe headache, and vision loss. Causes include progression of preeclampsia, cerebral palsy, and

Definition: An ectopic pregnancy is when a fertilized egg implants outside the uterus. Symptoms: Abdominal pain, Vaginal bleeding, Dizziness and fainting, Shoulder pain. Causes: Tubal damage, infection,

Definition Ellis-van Creveld syndrome is a rare skeletal dysplasia characterized by short stature, polydactyly, and congenital heart defects. Symptoms Short stature Polydactyly Congenital heart defects Dental

Empty sella syndrome is a condition in which the pituitary gland is so small or flattened within the sella turcica that it cannot be seen on imaging methods. Symptoms: Usually asymptomatic, Headache

Definition: Endocarditis is an infection of the heart valves or their inner lining. Symptoms: Fever, chills, heart murmur, Petechiae. Causes: Bacterial infection, valve disease. Diagnosis: Blood culture, echocardiography, Duke

Definition: Endometriosis is the growth of uterine lining outside the uterus. Symptoms: Severe menstrual pain, Pelvic pain, Pain during intercourse, Infertility. Causes: Retrograde menstruation, genetic factors. Diagnosis: Laparoscopy.,

Definition: Endometriosis is the growth of uterine lining outside the uterus. Symptoms: Severe menstrual pain, Pelvic pain, Pain during intercourse, Infertility. Causes: Retrograde menstruation, genetic factors. Diagnosis: Laparoscopy.,

Definition: Eosinophilic granulomatosis with polyangiitis is a disease characterized by asthma, eosinophilia, and vasculitis. Symptoms: Asthma, Sinusitis, Eosinophilia, Mononeuritis multiplex. Causes: Autoimmune mechanisms. Diagnosis: ANCA test, eosinophil

Definition Eosinophilic esophagitis is a chronic, allergic/immune-mediated disease characterized by the accumulation of eosinophils in the esophagus. Symptoms Difficulty swallowing Chest pain Food impaction Heartburn Causes Food

Definition Epilepsy is a chronic neurological disease characterized by recurrent seizures. Symptoms Seizures Loss of consciousness Convulsions Absence seizures Causes Brain damage, genetics, infections, metabolic disorders. Diagnosis EEG,

Definition Epistaxis, also known as nosebleed, is bleeding from the vessels inside the nose. Symptoms: Bleeding from the nose. Bleeding from the nose or throat. Weakness. Dizziness. Causes: Trauma,

Definition: Essential thrombocythemia is a myeloproliferative disease characterized by excessive platelet production by the bone marrow. Symptoms: Headache, Visual disturbances, Erythromelalgia, Bleeding. Causes: JAK2, CALR, or MPL.

Definition Fabry disease is a lysosomal storage disease characterized by pain, angiokeratomas, and multiorgan involvement, resulting from alpha-galactosidase A deficiency. Symptoms include: Burning pain attacks, angiokeratomas, and kidney

Definition: Tetralogy of Fallot is a complex congenital heart disease characterized by four distinct heart anomalies. Symptoms: Cyanosis, Shortness of breath, Squatting position, Growth retardation, Causes: Congenital development

Definition Familial adenomatous polyposis is an inherited syndrome characterized by hundreds of polyps in the colon and an increased risk of colorectal cancer. Symptoms: Numerous colon polyps, Colorectal cancer, Desmoid tumors

Definition Familial hypocalciuric hypercalcemia (FHH) is a benign autosomal dominant disease characterized by mild hypercalcemia and hypocalciuria, caused by a defect in the calcium-sensing receptor (CaSR).

Definition Fanconi anemia is a rare genetic disease characterized by congenital anomalies, progressive bone marrow failure, and a predisposition to cancer. Symptoms Congenital anomalies (skeletal, renal) Progressive bone

Definition Fanconi-Bickel syndrome is a rare metabolic disease characterized by a GLUT2 transporter defect, leading to hepatorenal glycogen storage and renal Fanconi syndrome. Symptoms include hepatomegaly, renal Fanconi syndrome, and

Definition Farber disease is a rare lysosomal storage disease characterized by painful nodules, joint contractures, and progressive neurological impairment resulting from aceramidase deficiency. Symptoms include: Painful

Definition: Pharyngitis is inflammation of the pharynx. Symptoms: Sore throat, difficulty swallowing, dry throat, fever. Causes: Viral or bacterial infections. Diagnosis: Clinical examination, throat culture. Treatment: Antibiotics, pain.

Definition: Phenylketonuria is a metabolic disease characterized by phenylalanine hydroxylase deficiency, which is characterized by mental retardation and neurological impairment. Symptoms: Mental retardation, neurological impairment, hypopigmentation, eczematous

Pheochromocytoma is a tumor originating from the medulla of the adrenal gland, usually benign, and secreting excessive catecholamines (adrenaline, norepinephrine). Symptoms include episodic hypertension, severe headache, and sweating.

Definition: Fibrodysplasia ossificans progressiva is a rare disease characterized by progressive ossification of muscle and connective tissue. Symptoms: Progressive heterotopic ossification, Congenital big toe anomaly, Movement

Definition Fibromyalgia is a chronic syndrome characterized by widespread musculoskeletal pain and fatigue. Symptoms: Widespread body pain, fatigue, sleep disturbances, cognitive problems. Causes: Unknown, central nervous system

Definition: Fibromyalgia syndrome is a chronic syndrome characterized by widespread musculoskeletal pain, fatigue, and cognitive impairment. Symptoms: Widespread body pain, fatigue, sleep disturbances, cognitive problems. Causes:

Definition: Functional dyspepsia is a condition characterized by discomfort in the upper abdomen without an organic cause. Symptoms: A feeling of fullness in the stomach, early satiety, and upper abdominal pain.

Definition: Fragile X syndrome is an inherited disorder characterized by intellectual disability and behavioral problems. Symptoms: Mental retardation, autistic features, long face, macroorchidism. Causes: FMR1 gene.

Definition: Fructose-1,6-bisphosphatase deficiency is a metabolic disease characterized by impaired gluconeogenesis and characterized by hypoglycemia and metabolic acidosis. Symptoms: Hypoglycemia, Lactic acidosis, Hyperventilation, Hepatomegaly. Causes: FBP1 gene

Galactosemia is a metabolic disease characterized by deficiency of the enzyme galactose-1-phosphate uridyl transferase, which presents with sepsis-like symptoms in the neonatal period and long-term complications.

Definition Gangliosidosis is a lysosomal storage disease characterized by disorders of ganglioside metabolism and progressive neurological impairment. Symptoms: Neurological regression, macrocephaly, cherry-red macula, hypotonia. Causes: HEXA,

Definition: A gastrinoma is a tumor originating in the pancreas or duodenum that oversecretes gastrin. It causes Zollinger-Ellison syndrome. Symptoms: Intractable peptic ulcers, diarrhea, abdominal pain, and reflux. Causes: Sporadic.

Definition Gastritis is inflammation of the stomach lining. Symptoms Stomach pain Nausea Bloating Loss of appetite Causes Helicobacter pylori infection, NSAID use, alcohol. Diagnosis Endoscopy, gastric biopsy, urea breath test.

Definition: It is a disease caused by stomach acid and its contents leaking back into the esophagus. Symptoms: A burning sensation in the chest, a bitter or sour taste in the mouth, difficulty swallowing, and belching.

Definition: Gaucher disease is a lysosomal storage disease caused by a deficiency of the enzyme glucocerebrosidase. Symptoms: Liver and spleen enlargement, bone pain, anemia, and thrombocytopenia. Causes: GBA gene mutation. Diagnosis:

A transient ischemic attack is a neurological condition that occurs as a result of a temporary interruption of blood flow to the brain and lasts less than 24 hours. Symptoms include temporary paralysis and speech impairment.

Definition Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, characteristic face, and progressive cardiac disease. Symptoms Short stature, characteristic face, progressive cardiac disease

Definition: Gestational diabetes is glucose intolerance that occurs during pregnancy. Symptoms: Usually asymptomatic; Excessive thirst; Frequent urination; Fatigue; Causes: Pregnancy hormones, insulin resistance, obesity. Diagnosis:

Definition: Gestational hypertension is hypertension that occurs after the 20th week of pregnancy. Symptoms: High blood pressure, headache, visual disturbances, edema. Causes: Placental factors, maternal factors. Diagnosis: Blood

Definition Gigantism is a disease characterized by excessive growth in height due to excessive secretion of growth hormone before the growth plates close in childhood. Symptoms Excessive height growth Hand

Definition Gitelman syndrome is an autosomal recessive renal tubulopathy characterized by salt malabsorption in the distal convoluted tubule, considered a milder variant of Bartter syndrome.

Definition Glaucoma is a disease characterized by optic nerve damage and vision loss resulting from increased intraocular pressure. Symptoms include visual field loss, eye pain, nausea, and

Definition Glaucoma is a disease characterized by optic nerve damage and vision loss resulting from increased intraocular pressure. Symptoms include visual field loss, eye pain, nausea, and

Definition Glucagonoma is a rare neuroendocrine tumor originating from the alpha cells of the pancreas, which secrete excessive glucagon. Symptoms include necrolytic migratory erythema (skin rash), diabetes, weight loss, and tongue pain.

Definition Glutaric aciduria type I is a metabolic disease characterized by a disorder of lysine and tryptophan metabolism, presenting with acute encephalopathic crises and dystonia. Symptoms Macrocephaly Acute

Definition: Glycogen storage disease type I is a metabolic disease characterized by glucose-6-phosphatase deficiency, accompanied by hypoglycemia, hepatomegaly, and lactic acidosis. Symptoms: Hypoglycemia, Hepatomegaly, Lactic acidosis

Definition: Glycogen storage disease type II is a lysosomal storage disease characterized by acid alpha-glucosidase deficiency, accompanied by myopathy and cardiomyopathy. Symptoms: Hypotonia, cardiomegaly, respiratory failure.

Definition: Glycogen storage disease type III is a metabolic disease characterized by debranching enzyme deficiency, hepatomegaly, and myopathy. Symptoms: Hepatomegaly, hypoglycemia, myopathy, and growth retardation.

Definition: Glycogen storage disease type IV is a rare metabolic disease characterized by branching enzyme deficiency, progressive liver cirrhosis, and neuromuscular involvement. Symptoms: Hepatomegaly

Definition: Glycogen storage disease type IX is a metabolic disease characterized by phosphorylase kinase deficiency, which is characterized by hepatomegaly and growth retardation. Symptoms: Hepatomegaly, growth retardation

Definition Glycogen storage disease type V is a metabolic disease characterized by muscle phosphorylase deficiency, exercise intolerance, and myoglobinuria. Symptoms Exercise intolerance Muscle

Definition: Glycogen storage disease type VI is a metabolic disease characterized by liver phosphorylase deficiency, accompanied by mild hepatomegaly and hypoglycemia. Symptoms: Mild hepatomegaly, hypoglycemia

Definition Glycogen storage disease type VII is a metabolic disease characterized by phosphofructokinase deficiency, exercise intolerance, and hemolytic anemia. Symptoms Exercise intolerance Muscle

Definition: Goldenhar syndrome is a congenital syndrome characterized by oculoauriculovertebral dysplasia. Symptoms: Microtia, Epibulbar dermoid, Vertebral anomalies, Facial asymmetry. Causes: Sporadic, multifactorial. Diagnosis: Clinical findings. Treatment:

Definition: Goodpasture syndrome is an autoimmune disease characterized by anti-GBM antibodies affecting the lungs and kidneys. Symptoms: Bloody sputum, shortness of breath, blood in the urine, kidney failure. Causes: Basal

Definition: Granulomatous mastitis is an inflammatory disease of unknown cause in breast tissue. Symptoms: Breast lumps, pain, redness, abscess formation. Causes: Unknown, may be autoimmune. Diagnosis: Breast ultrasound,

Definition: Granulomatosis with polyangiitis is a systemic vasculitis affecting the upper and lower respiratory tract and the kidneys. Symptoms: Nosebleeds, sinusitis, shortness of breath, kidney failure. Causes: Autoimmune mechanisms. Diagnosis:

Definition Guillain-Barré syndrome is an acute inflammatory demyelinating polyneuropathy of the peripheral nervous system. Symptoms Rapidly progressive weakness Sensory loss Autonomic dysfunction Respiratory failure Causes Post-infectious autoimmune reaction.

Definition Guillain-Barré syndrome is an autoimmune disease of the peripheral nervous system. Symptoms Weakness in the arms and legs Loss of sensation Respiratory muscle weakness Difficulty swallowing Causes Autoimmune reaction, post-infectious.

Definition: Gout is an inflammatory arthritis caused by the accumulation of uric acid crystals in the joints. Symptoms: Sudden joint pain, swelling, redness, tenderness. Causes: Hyperuricemia, diet, genetics. Diagnosis: Joint effusion.

Definition Hemifacial spasm is a movement disorder characterized by involuntary, intermittent contractions of the muscles on one side of the face. Symptoms include eyelid twitching, and contractions around the cheek and mouth.

Definition: Hemophilia is a bleeding disorder caused by a deficiency of clotting factors. Symptoms: Prolonged bleeding, intra-articular bleeding, easy bruising, spontaneous bleeding. Causes: Factor VIII or IX.

Definition Hemophilia A is an X-linked recessive bleeding disorder caused by factor VIII deficiency. Symptoms Intra-articular bleeding Intramuscular bleeding Spontaneous bleeding Surgery

Definition Hemophilia B is an X-linked recessive bleeding disorder caused by factor IX deficiency. Symptoms Intra-articular bleeding Intramuscular bleeding Spontaneous bleeding Surgery

Definition: Hemochromatosis is a hereditary disease characterized by increased iron absorption resulting in iron accumulation in the tissues. Symptoms: Weakness, joint pain, liver enlargement, diabetes mellitus. Causes: HFE gene.

Definition: Hemochromatosis is a hereditary disease characterized by increased iron absorption resulting in iron accumulation in the tissues. Symptoms: Fatigue, joint pain, liver enlargement, diabetes mellitus. Causes: HFE gene.

Definition: Hemolytic anemia is a type of anemia characterized by the premature destruction of red blood cells. Symptoms: Pallor, jaundice, dark urine, weakness. Causes: Autoimmune, enzyme-mediated

Definition: Hemolytic uremic syndrome is a syndrome characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. Symptoms: Bloody diarrhea, decreased urine output, weakness, pallor. Causes:

Definition: Hemorrhoidal disease is the symptomatic inflammation of the vascular cushions of the anal canal. Symptoms: Painless rectal bleeding, swelling in the anal area, itching, and pain. Causes: Constipation, pregnancy, prolonged standing.

Definition: Henoch-Schönlein purpura is a systemic disease characterized by small-vessel vasculitis. Symptoms: Palpable purpura, arthritis, abdominal pain, kidney involvement. Causes: Immune complex deposition, infection. Diagnosis:

Definition Hepatitis A is an acute liver infection caused by the hepatitis A virus. Symptoms Jaundice Weakness Nausea Abdominal pain Causes Hepatitis A virus, fecal-oral transmission. Diagnosis Anti-HAV

Definition: Hepatitis B is a viral infection that affects the liver. Symptoms: Weakness, Jaundice, Abdominal pain, Loss of appetite. Causes: Hepatitis B virus is transmitted through blood and body fluids. Diagnosis: Blood

Definition Hepatitis C is a viral infection that causes chronic liver disease. Symptoms Weakness Joint pain Nausea Abdominal pain Causes Hepatitis C virus is transmitted through blood.

Definition Hepatitis E is an acute liver infection caused by the hepatitis E virus. Symptoms Jaundice Fever Abdominal pain Loss of appetite Causes Hepatitis E virus, contaminated water and food.

Definition: Hereditary fructose intolerance is a metabolic disease characterized by aldolase B enzyme deficiency, which results in hypoglycemia and liver failure after fructose ingestion. Symptoms: Hypoglycemia, Abdominal

Hereditary breast and ovarian cancer is an inherited syndrome characterized by BRCA1 and BRCA2 gene mutations. Symptoms include: Early-onset breast cancer, ovarian cancer, and family history.

Definition Lynch syndrome is an inherited syndrome characterized by an increased risk of colorectal and endometrial cancer. Symptoms include early-onset colorectal cancer, endometrial cancer, and family history. Mismatch repair

Definition: Hydrocele is the accumulation of fluid in the tunica vaginalis surrounding the testicle. Symptoms: Painless swelling in the testicle, Enlargement of the scrotum, Feeling of heaviness, Usually painless. Causes: Congenital, infection, trauma, tumor.

Definition Hyperopia is a refractive error characterized by the inability to see clearly up close. Symptoms Blurred vision up close Eye strain Headache Difficulty reading Causes Genetics, short eyeball

Hyperprolactinemia is a condition characterized by higher than normal levels of the hormone prolactin in the blood. Symptoms include: irregular menstrual periods in women; milk discharge from the breasts (galactorrhea); decreased sexual desire in men; and infertility. Causes include: Prolactinoma.

Definition: Blood pressure consistently above normal values. Symptoms: Usually asymptomatic. Headaches, nosebleeds, shortness of breath. Causes: Familial predisposition, obesity, salt consumption.

Definition: Hyperthyroidism is a metabolic disorder caused by excessive production of thyroid hormones. Symptoms: Palpitations, sweating, weight loss, irritability. Causes: Graves' disease, toxic nodular goiter. Diagnosis:

Definition Pituitary apoplexy is an emergency condition characterized by severe headache, vision loss, and pituitary failure, resulting from sudden hemorrhage or infarction in the pituitary gland. Symptoms

Definition: Hypopituitarism is a condition in which the pituitary gland underproduces one or more of its hormones. Symptoms include: Severe fatigue, Weight loss, Low blood pressure, and decreased sexual desire.

Definition Hypoparathyroidism is a disease characterized by a deficiency of parathyroid hormone (PTH) and a decrease in blood calcium levels due to inadequate function of the parathyroid glands. Symptoms include muscle cramps in the hands and feet.

Definition: Hypothyroidism is a metabolic disorder caused by insufficient thyroid hormone production. Symptoms: Fatigue, Weight gain, Chills, Constipation. Causes: Hashimoto's thyroiditis, post-thyroid surgery. Diagnosis:

Definition Non-Hodgkin lymphoma is a heterogeneous group of lymphomas that do not contain Reed-Sternberg cells. Symptoms Lymphadenopathy Fever Night sweats Weight loss Causes Immunodeficiency, infections, chemicals. Diagnosis Lymphoma

Definition: Hodgkin lymphoma is a malignant lymphoma characterized by the presence of Reed-Sternberg cells. Symptoms: Painless lymphadenopathy, fever, night sweats, weight loss. Causes: EBV infection, genetic factors. Diagnosis:

Definition: Holt-Oram syndrome is an inherited syndrome characterized by congenital heart defects and upper extremity anomalies. Symptoms: Atrial septal defect, radial ray anomalies, and pectoral muscle hypoplasia.

Definition Homocystinuria is a metabolic disease characterized by a disorder of methionine metabolism, which can lead to lens dislocation, thromboembolic events, and mental retardation. Symptoms Lens dislocation Thromboembolic events Mental

Definition: Huntington disease is a progressive neurodegenerative inherited disorder. Symptoms: Choreiform movements, cognitive impairment, behavioral changes, difficulty swallowing. Causes: HTT gene mutation. Diagnosis: Genetic testing. Treatment:

Definition Idiopathic pulmonary fibrosis is a chronic disease of unknown cause, characterized by progressive scarring of lung tissue. Symptoms include progressive shortness of breath, dry cough, finger clubbing, and fatigue. Causes are unknown.,

A urinary tract infection (UTI) is a bacterial infection of the urinary tract. Symptoms include frequent urination, a burning sensation, and abdominal pain. Causes include E. coli and other bacteria. Diagnosis

Definition: Immune thrombocytopenic purpura is an autoimmune disease characterized by autoantibody-mediated platelet destruction. Symptoms: Skin petechiae and purpura, Nosebleeds, Bleeding gums, Menorrhagia. Causes:

Definition: Influenza is a respiratory infection caused by influenza viruses. Symptoms: Fever, cough, sore throat, muscle aches. Causes: Influenza A, B, or C viruses. Diagnosis: Clinical

Definition: A stroke is damage to brain tissue caused by blockage or bleeding in cerebral vessels. Symptoms: Facial twitching, weakness in an arm or leg, slurred speech, vision loss. Causes: Hypertension,

Definition An insulinoma is a usually benign tumor originating from the beta cells of the pancreas that secretes excessive insulin. Symptoms Neuroglycopenic symptoms (mental confusion, behavioral changes) Autonomic symptoms (sweating, palpitations,

Definition: Intracranial hemorrhage is bleeding into or around the brain tissue. Symptoms: Sudden neurological deficit, headache, changes in consciousness, seizures. Causes: Hypertension, trauma, aneurysm. Diagnosis: Brain

Definition IBS is a functional bowel disorder characterized by abdominal pain and changes in bowel habits. Symptoms Abdominal pain Diarrhea or constipation Bloating Gas Causes Unknown, stress and

Definition: Irritable bowel syndrome is a functional bowel disorder characterized by abdominal pain and changes in bowel habits. Symptoms: Abdominal pain, diarrhea or constipation, bloating, gas, and unknown causes.,

Definition: Ischemic colitis is inflammation and tissue damage that develops as a result of decreased blood flow to the colon. Symptoms: Sudden-onset abdominal pain, bloody diarrhea, fever, nausea, and vomiting.

Definition: Isovaleric acidemia is an organic acidemia characterized by a disorder of leucine metabolism, characterized by acute metabolic crises and a characteristic odor. Symptoms: Acute metabolic crises, 'Petechial feet' in the sweat.‘

Definition Jansen metaphyseal chondrodysplasia is a rare skeletal dysplasia characterized by short stature, hypercalcemia, and severe metaphyseal dysplasia. Symptoms Short stature Hypercalcemia Severe metaphyseal dysplasia Joint

Definition Jeune syndrome is a rare skeletal dysplasia characterized by a narrow rib cage, short limbs, and respiratory problems. Symptoms: Narrow rib cage, short limbs, and respiratory problems.

Definition: Juvenile polyposis syndrome is an inherited syndrome characterized by juvenile polyposis of the gastrointestinal tract and an increased risk of cancer. Symptoms: Juvenile polyposis, Gastrointestinal bleeding, Cancer risk, Anemia, Causes

Definition Kabuki syndrome is an inherited disorder characterized by characteristic facial appearance, developmental delay, and skeletal abnormalities. Symptoms: Kabuki face, developmental delay, short fingers, cardiac

Definition Kallmann syndrome is a genetic disease caused by gonadotropin-releasing hormone (GnRH) deficiency, characterized by hypogonadotropic hypogonadism and olfactory dysfunction (anosmia/hyposmia). Symptoms include delayed puberty and infertility.

Definition: Heart block is a type of arrhythmia that develops as a result of a malfunction in the heart's electrical conduction system. Symptoms: Fatigue, dizziness, fainting, shortness of breath. Causes: Aging, heart disease, medication.

Definition: Cryptogenic liver cirrhosis is liver cirrhosis of unknown cause. Symptoms: Fatigue, Jaundice, Ascites, Pruritus. Cause: Unknown, probably nonalcoholic fatty liver disease. Diagnosis: Liver biopsy, imaging. Treatment:

Cardiomyopathy is a disease characterized by structural and functional abnormalities of the heart muscle. Symptoms include shortness of breath, fatigue, leg swelling, and palpitations. Causes include genetics, hypertension, and viral infections. Diagnosis

Definition: Carpal tunnel syndrome is a condition characterized by numbness and pain in the hand caused by compression of the median nerve in the carpal tunnel. Symptoms: Numbness in the hand, Pain that wakes you up at night, Thumb

Definition: A condition characterized by numbness and tingling in the hand caused by compression of the median nerve in the wrist. Symptoms: Numbness in the fingers, numbness in the hand that wakes you up at night, weakness in the hand, and wrist pain.

Definition Carcinoid syndrome is a set of symptoms caused by vasoactive substances (serotonin, etc.) released from neuroendocrine tumors (carcinoid tumors) that have usually metastasized to the liver. Symptoms

Definition Kartagener syndrome is a hereditary disease characterized by primary ciliary dyskinesia, bronchiectasis, and situs inversus. Symptoms Chronic sinusitis Bronchiectasis Situs inversus Infertility Causes Ciliary function

Definition: Cataracts are a condition that causes vision loss due to clouding of the lens of the eye. Symptoms: Blurred vision, sensitivity to light, faded colors, decreased night vision. Causes: Aging,

Definition Kearns-Sayre syndrome is a mitochondrial disease characterized by progressive external ophthalmoplegia, pigmentary retinopathy, and heart block. Symptoms Progressive external ophthalmoplegia Pigmentary retinopathy Heart block Ataxia

Definition Cystic fibrosis is an inherited disease affecting the exocrine glands. Symptoms Chronic cough Recurrent lung infections Oily stools Growth failure Causes CFTR gene mutation, autosomal recessive

Definition Short QT syndrome is an inherited ion channel disease characterized by shortened ventricular repolarization and a risk of malignant arrhythmias. Symptoms include palpitations, dizziness, and sudden cardiac arrest.

Definition Klinefelter syndrome is a chromosomal disorder characterized by hypogonadism, infertility, and tall stature, resulting from the presence of an extra X chromosome (47,XXY) in males. Symptoms include small and

Definition: Klippel-Trenaunay syndrome is a rare disorder characterized by capillary malformations, venous varices, and limb hypertrophy. Symptoms: Port-wine stain, venous varices, limb hypertrophy, lymphatic malformations, and causes.

Definition Kniest dysplasia is a rare skeletal dysplasia characterized by short stature, joint contractures, and a characteristic facial appearance. Symptoms Short stature Joint contractures Characteristic facial appearance Myopia

Definition Chronic obstructive pulmonary disease (COPD) is a chronic lung disease characterized by shortness of breath. Symptoms include shortness of breath, chronic cough, sputum production, and wheezing. Causes include smoking, air

Definition: Choledocholithiasis is the presence of stones in the common bile duct. Symptoms: Jaundice, fever, abdominal pain, itching. Causes: Passage of gallstones into the common bile duct. Diagnosis: Ultrasound, MRCP, ERCP. Treatment: ERCP.

Definition: Cholecystitis is a disease that develops as a result of inflammation of the gallbladder. Symptoms: Right upper quadrant pain, nausea and vomiting, fever, jaundice. Causes: Gallstones, infection. Diagnosis: Abdominal

Definition Cholesteatoma is an abnormal accumulation of epidermal tissue in the middle ear. Symptoms Foul-smelling ear discharge Hearing loss Earache Dizziness Causes Recurrent infections, tympanic membrane retraction.

Definition: Congenital adrenal hyperplasia is a group of hereditary diseases transmitted in an autosomal recessive manner, resulting from enzyme deficiencies in the adrenal steroidogenesis pathways. 21-hydroxylase deficiency is the most common. Symptoms in girls

Definition: Congenital heart diseases are structural heart defects that occur at birth. Symptoms: Cyanosis, shortness of breath, feeding difficulties, growth retardation. Causes: Genetic factors, medication use during pregnancy, infections. Diagnosis:

Definition: Conjunctivitis is inflammation of the conjunctiva of the eye. Symptoms: Redness of the eye, itching, burning, and crusting. Causes: Viral and bacterial infections, allergies. Diagnosis: Clinical examination, eye culture. Treatment: Antibiotic drops.,

Definition: Conjunctivitis is inflammation of the conjunctiva of the eye. Symptoms: Redness of the eye, itching, burning, and crusting. Causes: Viral and bacterial infections, allergies. Diagnosis: Clinical examination, eye culture. Treatment: Antibiotic drops.,

Definition Krabbe disease is a lysosomal storage disease characterized by progressive neurological deterioration and peripheral neuropathy resulting from a deficiency of the enzyme galactocerebrosidase. Symptoms include: Irritability, Hypotonia, Neurological decline, Peripheral

Definition: A craniopharyngioma is a usually benign but space-occupying tumor that develops near the pituitary gland. Symptoms include: Headache, visual field loss, and pituitary hormone deficiencies.

Definition Crystal arthropathy is an inflammatory arthritis characterized by the deposition of non-uric acid crystals in the joints. Symptoms Joint pain Swelling Redness Limited movement Causes Calcium pyrophosphate, hydroxyapatite crystals.

Definition Chronic kidney disease is the permanent deterioration of kidney function. Symptoms Fatigue Loss of appetite Swelling (edema) Change in urine output Causes Diabetes, hypertension, glomerulonephritis. Diagnosis Blood tests (creatinine,

Definition: Chronic pharyngitis is a long-term inflammation of the pharynx. Symptoms: Persistent sore throat, itchy throat, dry cough, hoarseness. Causes: Smoking, allergies, chronic irritation. Diagnosis: Clinical

Definition: Chronic inflammatory demyelinating polyneuropathy is a disease characterized by chronic inflammation and demyelination of peripheral nerves. Symptoms: Progressive weakness, loss of sensation, loss of reflexes, fatigue. Causes: Autoimmune.

Definition Chronic cholecystitis is a long-term inflammation of the gallbladder. Symptoms include recurrent right upper quadrant pain, bloating, discomfort after fatty meals, and nausea. Causes include gallstones, recurrent acute

Definition Chronic lymphocytic leukemia is a malignant disease characterized by clonal proliferation of mature lymphocytes. Symptoms Lymphadenopathy Weakness Splenomegaly Susceptibility to infections Causes Genetic factors, family history.

Definition Hashimoto's thyroiditis is the most common cause of hypothyroidism, resulting from chronic autoimmune inflammation of the thyroid gland. Symptoms Fatigue Weight gain Chills Hair loss Causes Autoimmune reaction, genetics

Definition Chronic myeloid leukemia is a malignant disease characterized by the uncontrolled proliferation of myeloid leukemia cells. Symptoms include fatigue, spleen enlargement, weight loss, night sweats, and the Philadelphia chromosome.,

Definition Chronic otitis media is a long-term inflammation or infection of the middle ear. Symptoms include recurrent ear discharge, hearing loss, ear fullness, and perforation of the eardrum. Causes include recurrent acute otitis media.

Definition Chronic pancreatitis is a progressive disease characterized by persistent inflammation and fibrosis of the pancreas. Symptoms include recurrent abdominal pain, weight loss, fatty diarrhea, and diabetes mellitus. Causes include chronic

Definition: Chronic pyelonephritis is chronic inflammation of the kidney due to recurrent infections. Symptoms: Recurrent urinary tract infections, flank pain, hypertension, renal failure. Causes: Recurrent infections, vesicoureteral reflux. Diagnosis:

Definition Chronic prostatitis is long-term inflammation of the prostate gland. Symptoms Chronic pelvic pain Difficulty urinating Sexual dysfunction Recurrent infections Causes Chronic infection, inflammation, autoimmune.

Definition Chronic rhinosinusitis is sinus inflammation lasting longer than 12 weeks. Symptoms Facial pain Nasal congestion Runny nose Decreased sense of smell Causes Chronic inflammation, allergies, nasal polyps.

Definition: Chronic fatigue syndrome is a complex disorder characterized by unexplained severe fatigue, post-exertional malaise, and cognitive impairment. Symptoms: Severe fatigue, worsening after exercise, cognitive problems

Definition: Dry eye syndrome is a condition caused by decreased tear production or poor tear quality. Symptoms include dry eyes, burning sensation, blurred vision, and sensitivity to light.

Definition Lambert-Eaton myasthenic syndrome is a paraneoplastic or autoimmune disease characterized by autoantibodies against presynaptic voltage-gated calcium channels. Symptoms include proximal muscle weakness, autonomic dysfunction, and reflexes.

Definition: Langerhans cell histiocytosis is a rare disease characterized by the abnormal proliferation of Langerhans cells. Symptoms: Bone pain, skin rashes, diabetes insipidus, liver and spleen enlargement. Causes:

Definition: Laryngitis is inflammation of the larynx. Symptoms: Hoarseness, sore throat, cough, loss of voice. Causes: Viral infection, overuse of the voice, smoking. Diagnosis: Clinical examination, laryngoscopy. Treatment: Voice

Definition: LCHAD deficiency is a metabolic disease characterized by a deficiency of the enzyme long-chain 3-hydroxyacyl-CoA dehydrogenase, which is characterized by hypoketotic hypoglycemia and liver failure. Symptoms: Hypoketotic hypoglycemia

Definition: Leigh syndrome is a mitochondrial disease characterized by progressive neurological deterioration, lactic acidosis, and brainstem involvement. Symptoms: Neurological decline, lactic acidosis, nystagmus, and respiratory failure.

Definition: Lymphoma is a malignant disease that develops in the lymphatic system. Symptoms: Swollen lymph nodes, fever, night sweats, weight loss. Causes: Immune system disorders, viral infections. Diagnosis: Lymphoma

Definition: LEOPARD syndrome is a hereditary disease characterized by lentigines, ECG abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation, and deafness. Symptoms: Multiple lentigines, cardiac anomalies

Definition: LHON is a mitochondrial disease characterized by sudden onset, painless bilateral vision loss. Symptoms: Sudden vision loss, Central scotoma, Color vision impairment. More common in males.

Definition: Li-Fraumeni syndrome is a hereditary syndrome characterized by a predisposition to various types of cancer. Symptoms: Early-onset cancer, Multiple primary cancers, Family history, TP53 mutation, Causes: TP53

Definition Liddle syndrome is a rare autosomal dominant disorder characterized by hypertension and low renin/aldosterone, resulting from overactivity of the epithelial sodium channel (ENaC) in the distal nephron.

Definition Leukemia is a type of cancer characterized by the malignant proliferation of blood cells. Symptoms Fatigue Fever Bone pain Swollen lymph nodes Causes Genetic mutations, radiation, chemical exposure.

Definition: Systemic lupus erythematosus is an autoimmune disease with multisystem involvement. Symptoms: Butterfly rash, joint pain, fatigue, kidney involvement. Causes: Autoimmune, genetic, and environmental factors. Diagnosis: Clinical

Definition Maffucci syndrome is a rare disorder characterized by multiple enchondromas and hemangiomas. Symptoms Multiple enchondromas Hemangiomas Bone deformities Cancer risk Causes IDH1 or IDH2 gene

Definition: Macular degeneration is the deterioration of the macula, the area that provides central vision. Symptoms: Loss of central vision, distorted images, changes in color perception, sensitivity to light. Causes: Aging, genetics, smoking, hypertension.

Definition MSUD is a metabolic disease characterized by branched-chain amino acid metabolism disorders, accompanied by a maple syrup odor in the urine and neurological deficits. Symptoms Maple syrup in urine

Definition: Marfan syndrome is a hereditary disorder affecting connective tissue. Symptoms: Tall stature, Arachnodactyly, Lens dislocation, Aortic aneurysm. Causes: FBN1 gene mutation. Diagnosis: Clinical criteria, genetics.

Definition: Marshall syndrome is a rare syndrome characterized by myopia, hearing loss, and a characteristic facial appearance. Symptoms: Myopia, hearing loss, characteristic facial appearance, cataracts, and COL11A1 gene.

Definition: MCAD deficiency is a metabolic disease characterized by a defect in medium-chain fatty acid oxidation and characterized by hypoketotic hypoglycemia. Symptoms: Hypoketotic hypoglycemia, lethargy, vomiting, liver failure.

Definition McCune-Albright syndrome is a disorder caused by a somatic mutation in the GNAS gene, characterized by fibrous dysplasia of bone, café-au-lait spots, and endocrine overfunction. Symptoms Polycystic fibrosis

Definition MELAS syndrome is a mitochondrial disease characterized by Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes. Symptoms Stroke-like episodes Seizures Dementia Hearing loss Causes MT-TL1 and

Definition: Melorheostosis is a rare bone disease characterized by a waxy appearance in the bones. Symptoms: Pain, Joint contractures, Soft tissue calcification, Causes: MAP2K1

Definition Meningitis is an infection of the membranes surrounding the brain and spinal cord. Symptoms Severe headache Fever Stiff neck Light sensitivity Causes Bacterial, viral, or fungal infections. Diagnosis Lumbar

Definition: Meniere's disease is a disorder characterized by vertigo, hearing loss, and tinnitus, which develops as a result of increased fluid pressure in the inner ear. Symptoms: Dizziness attacks, hearing loss

Definition: Meniere's disease is a disorder characterized by vertigo, hearing loss, and tinnitus, which develops as a result of increased fluid pressure in the inner ear. Symptoms: Dizziness attacks, hearing loss

Definition: Menkes disease is a rare disorder characterized by neurological decline and characteristic hair, resulting from a copper metabolism disorder. Symptoms: Frizzy, brittle hair, neurological decline, hypotonia.

Definition Menopause is the permanent cessation of menstrual cycles. Symptoms Hot flashes Night sweats Sleep disturbances Mood swings Causes Natural aging process, decline in ovarian function.

Definition MERRF syndrome is a mitochondrial disease characterized by Myoclonic Epilepsy with Ragged-Red Fibers. Symptoms Myoclonic seizures Ataxia Muscle weakness Hearing loss Causes MT-TK and other

Definition Bladder cancer is a malignant tumor that develops in the bladder wall. Symptoms include bloody urine, frequent urination, pain during urination, and pelvic pain. Causes include smoking, occupational chemical exposure, and chronic

Definition: Bladder stones are hard masses formed by mineral and salt accumulation in the bladder. Symptoms: Lower abdominal pain, frequent urination, blood in the urine, and intermittent urination.

Definition Metachromatic leukodystrophy is a lysosomal storage disease characterized by progressive neurological deterioration and demyelination, resulting from a deficiency of the enzyme arylsulfatase A. Symptoms include gait disturbance, cognitive decline, and peripheral neuropathy.

Definition Metatropic dysplasia is a rare skeletal dysplasia characterized by progressive shortening, platyspondylia, and characteristic bone changes. Symptoms Progressive shortening Platyspondylia Short ribcage Joint mobility

Definition: Methylmalonic acidemia is an organic acidemia characterized by a deficiency of the methylmalonyl-CoA mutase enzyme, accompanied by metabolic acidosis and hyperammonemia. Symptoms: Metabolic acidosis, hyperammonemia, vomiting, lethargy, and causes of MUT.

Definition: Mesenteric ischemia is tissue damage that develops as a result of decreased blood flow to the intestines. Symptoms: Severe abdominal pain, nausea and vomiting, bloody diarrhea, and abdominal tenderness. Causes: Arterial embolism.,

Definition Myasthenia gravis is a disease characterized by muscle weakness resulting from an autoimmune disorder at the neuromuscular junction. Symptoms include drooping eyelids, double vision, difficulty swallowing, and numbness in the arms and legs.

Definition: A neurological disorder characterized by attacks of throbbing, one-sided headaches. Symptoms: Throbbing headache, nausea and vomiting, sensitivity to light and sound, aura, and genetics.

Definition: Microscopic colitis is a disease characterized by chronic diarrhea in which the colonic mucosa is histologically inflamed. Symptoms: Chronic watery diarrhea, Abdominal pain, Weight loss, Bloating. Causes:

Definition: Mixed connective tissue disease (SLE) is an autoimmune disease characterized by the association of symptoms of scleroderma and polymyositis. Symptoms: Raynaud phenomenon, swelling of the fingers, arthritis, and muscle weakness. Causes:

Definition Miller-Dieker syndrome is a syndrome characterized by lissencephaly, severe developmental delay, and a characteristic facial appearance. Symptoms Lissencephaly Severe developmental delay Characteristic face Seizures Causes 17p13.3

Definition: Mitochondrial diseases are a group of metabolic diseases characterized by multisystem involvement resulting from mitochondrial dysfunction. Symptoms: Muscle weakness, neurological disorders, cardiac involvement, developmental delay.

Definition: Myocarditis is inflammation of the heart muscle. Symptoms: Chest pain, shortness of breath, palpitations, and fever. Causes: Viral infections, autoimmune diseases. Diagnosis: ECG, echocardiography, cardiac MRI. Treatment: Rest, anti-inflammatory medications.

Definition: Fibroids are benign tumors that arise from the muscular layer of the uterus. Symptoms: Heavy menstrual bleeding, pelvic pain, frequent urination, infertility. Causes: Hormonal factors, genetic predisposition. Diagnosis:

Definition Myopia is a refractive error characterized by the inability to see clearly at a distance. Symptoms Blurred vision at a distance Squinting Headache Eye strain Causes Genetics, environmental factors,

Definition: Möbius syndrome is a congenital syndrome characterized by facial paralysis and limited eye movements. Symptoms: Facial paralysis, Abducens palsy, difficulty swallowing, Extremity anomalies. Causes: Sporadic,

Definition: A molar pregnancy is a trophoblastic disease characterized by the uncontrolled growth of abnormal placental tissue. Symptoms include severe nausea and vomiting, vaginal bleeding, and a large uterus for gestational age.

Definition Mucopolysaccharidosis type I is a lysosomal storage disease characterized by coarse facial appearance, skeletal abnormalities, and progressive neurological impairment, resulting from alpha-L-iduronidase deficiency. Symptoms

Definition Mucopolysaccharidosis type II is an X-linked recessive lysosomal storage disease caused by a deficiency of the enzyme iduronate-2-sulfatase. Symptoms include coarse facial appearance, skeletal abnormalities, behavioral problems, and hearing loss.

Mucopolysaccharidosis type III is a lysosomal storage disease characterized by impaired heparan sulfate metabolism, leading to severe neurological decline and behavioral problems. Symptoms include severe neurological decline.

Definition: Mucopolysaccharidosis type IV is a lysosomal storage disease characterized by impaired keratin sulfate metabolism, severe skeletal abnormalities, and corneal opacity. Symptoms: Severe skeletal abnormalities

Definition Mucopolysaccharidosis type VI is a lysosomal storage disease characterized by a deficiency of the enzyme arylsulfatase B, accompanied by skeletal abnormalities and corneal opacity. Symptoms Skeletal abnormalities Corneal opacity

Definition Mucopolysaccharidosis type VII is a rare lysosomal storage disease characterized by beta-glucuronidase deficiency, hepatosplenomegaly, and skeletal abnormalities. Symptoms Hepatosplenomegaly Skeletal abnormalities Developmental

Definition: Multiple myeloma is a type of cancer characterized by the malignant proliferation of plasma cells. Symptoms: Bone pain, fatigue, kidney failure, susceptibility to infection. Causes: Unknown, genetic factors. Diagnosis:

Definition: Multiple myeloma is a type of cancer characterized by the malignant proliferation of plasma cells. Symptoms: Bone pain, fatigue, kidney failure, susceptibility to infection. Causes: Unknown, genetic factors. Diagnosis:

Definition: Multiple sclerosis is a chronic autoimmune disease of the central nervous system. Symptoms: Weakness, numbness, visual disturbances, loss of balance. Causes: Autoimmune reactions, genetics, and environmental factors. Diagnosis: MRI,

Definition Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant syndrome characterized by tumors of the parathyroid, pancreas, and pituitary glands. Symptoms include hyperparathyroidism (most common) and pancreatic

Tanım Multiple endokrin neoplazi tip 2 (MEN2), medüller tiroid kanseri, feokromositoma ve hiperparatiroidi ile karakterize otozomal dominant geçişli bir sendromdur. Belirtiler Medüller tiroid karsinomu (%100)

Definition Multiple epiphyseal dysplasia is a rare skeletal dysplasia characterized by joint pain, early osteoarthritis, and short stature. Symptoms: Joint pain, early osteoarthritis, short stature, walking difficulties.

Definition Myasthenia gravis is an autoimmune disease characterized by the presence of autoantibodies against acetylcholine receptors at the neuromuscular junction. Symptoms Muscle weakness Ptosis Double vision Difficulty swallowing Causes Autoimmune,

Definition Narcolepsy is a neurological sleep disorder characterized by excessive daytime sleepiness and sudden sleep attacks. Symptoms include excessive daytime sleepiness, cataplexy, sleep paralysis, and hypnagogic

Definition NARP syndrome is a mitochondrial disease characterized by neuropathy, ataxia, and retinitis pigmentosa. Symptoms Peripheral neuropathy Ataxia Retinitis pigmentosa Developmental delay Causes MT-ATP6 gene mutation.

Definition Nephrogenic diabetes insipidus is a disease characterized by the production of excessively dilute urine due to the kidneys' failure to respond to antidiuretic hormone (ADH). Symptoms Excessive urination (polyuria) Excessive

Definition: Nelson syndrome is the aggressive growth of an ACTH-secreting pituitary tumor that develops in patients who have undergone bilateral adrenalectomy for Cushing's disease. Symptoms: Extreme darkening of the skin, headache, and visual field defects.

Definition Neurofibromatosis type 1 is a neurocutaneous syndrome characterized by café-au-lait spots, neurofibromas, and optic glioma. Symptoms Café-au-lait spots Axillary freckling Neurofibromas Lisch nodules Causes NF1

Definition Neurofibromatosis type 2 is a syndrome characterized by bilateral vestibular schwannomas and other central nervous system tumors. Symptoms include hearing loss, tinnitus, balance problems, and cranial nerve

Definition: Niemann-Pick disease is a lysosomal storage disease caused by a deficiency of the enzyme sphingomyelinase. Symptoms: Liver and spleen enlargement, neurological regression, developmental delay, cherry-red macula. Causes: SMPD1

Definition: Nijmegen fracture syndrome is a rare autosomal recessive genetic disorder characterized by microcephaly, immunodeficiency, cancer predisposition, and radiosensitivity. Symptoms: Microcephaly, Immunodeficiency, Cancer

Definition: Nonalcoholic fatty liver disease is the accumulation of fat in the liver without alcohol use. Symptoms: Usually asymptomatic; weakness; right upper quadrant abdominal discomfort; liver enlargement; Causes: Obesity, insulin

Definition Noonan syndrome is an autosomal dominant genetic syndrome characterized by congenital heart defects, short stature, characteristic facial appearance, and pterygium colli. Symptoms Pulmonary stenosis

Definition Neuroendocrine tumors are rare, usually slow-growing tumors arising from neuroendocrine cells. Symptoms Facial flushing Diarrhea Wheezing Abdominal pain Causes Unknown, some associated with genetic syndromes.

Definition Lowe syndrome is an X-linked recessive disorder characterized by congenital cataracts, renal tubular acidosis, and neurological disorders. Symptoms Congenital cataracts Renal tubular acidosis Developmental

Definition Ollier disease is a rare disease characterized by multiple enchondromas and bone deformities. Symptoms Multiple enchondromas Bone deformities Short stature Cancer risk Causes IDH1 or

Sickle cell disease is a genetic disease characterized by a sickle-shaped red blood cell pattern. Symptoms include: painful crises, fatigue, susceptibility to infection, and growth retardation. Causes include: Hemoglobin

Definition Sickle cell disease is an inherited hemolytic anemia characterized by sickle-shaped red blood cells due to the presence of hemoglobin S. Symptoms include painful crises, weakness, and sensitivity to infections.

Definition: It is a joint disease characterized by the wearing away of joint cartilage and degenerative changes in the joints. Symptoms: Joint pain, limited movement, morning stiffness, and joint swelling. Causes: Aging, obesity, joint

Definition: Osteogenesis imperfecta is a hereditary disease characterized by bone fragility. Symptoms: Frequent bone fractures, Blue sclera, Hearing loss, Dental anomalies. Causes: Type 1 collagen gene

Definition: Osteopetrosis is a rare bone disease characterized by increased bone density and bone fragility. Symptoms: Bone fractures, Anemia, Neurocranial stenosis, Hepatosplenomegaly. Causes: TCIRG1, CLCN7 gene

Definition: Osteopoikilosis is a benign bone disease characterized by multiple sclerotic foci in bones. Symptoms: Asymptomatic, Radiological findings: Multiple sclerotic foci, Often incidental diagnosis. Causes: LEMD3 gene

Definition: Osteoporosis is a disease characterized by decreased bone density and an increased risk of fractures. Symptoms: Low back pain, decreased height, stooped posture, bone fractures. Causes: Aging, menopause, calcium

Definition Otitis externa is an inflammation of the external ear canal. Symptoms Earache Itching Discharge Decreased hearing Causes Bacterial or fungal infection, dampness, trauma. Diagnosis Otoscopic examination, culture.

Definition: Otitis media is an inflammation of the middle ear. Symptoms: Earache, Fever, Hearing loss, Feeling of fullness in the ear. Causes: Bacterial or viral infections, Eustachian tube dysfunction. Diagnosis: Otoscopic

Definition: Autism spectrum disorder is a neurodevelopmental disorder characterized by difficulties with social communication and repetitive behaviors. Symptoms: Difficulty with social interaction, communication problems, repetitive behaviors, sensory sensitivity.

Definition: Autoimmune hemolytic anemia is a type of anemia characterized by autoantibodies destroying red blood cells. Symptoms: Pallor, jaundice, dark urine, spleen enlargement, and causes: Autoimmune diseases, lymphoproliferative

Definition: Ovarian cancer is a malignant tumor that develops in the ovaries. Symptoms: Abdominal pain and bloating, loss of appetite, frequent urination, and weight loss. Causes: Family history, genetic mutations, and age. Diagnosis:

Definition: Pancreatitis is a serious disease caused by inflammation of the pancreas. Symptoms: Severe abdominal pain, nausea and vomiting, fever, and abdominal tenderness. Causes: Gallstones, alcohol use. Diagnosis:

Definition Parkes Weber syndrome is a rare disorder characterized by arteriovenous malformations, limb hypertrophy, and capillary malformation. Symptoms Arteriovenous malformations Limb hypertrophy Capillary malformation High output

Definition Parkinson's disease is a progressive neurological disease that develops as a result of the loss of dopamine-producing neurons. Symptoms include tremors, slowed movements, muscle rigidity, and balance disorders. Causes include loss of dopaminergic neurons.,

Definition: Paroxysmal nocturnal hemoglobinuria is a rare disease characterized by complement-mediated hemolysis due to a PIG-A gene mutation. Symptoms: Dark urine, fatigue, abdominal pain, headache.

Definition: Patent ductus arteriosus is a condition in which a blood vessel that should close after birth remains open. Symptoms: Rapid breathing, palpitations, difficulty feeding, murmur. Causes: Congenital developmental abnormality. Diagnosis: Echocardiography, heart

Pelvic inflammatory disease (PID) is an infection of the upper genital tract. Symptoms include lower abdominal pain, fever, abnormal vaginal discharge, and pain during intercourse. Causes include sexually transmitted infections (STIs), bacterial infections, and pelvic inflammatory disease (SIDS).

Definition: A perianal abscess is an acute infection characterized by the accumulation of pus in the perianal area. Symptoms: Severe anal pain, swelling, redness, and fever. Causes: Infection of the anal crypt glands. Diagnosis:

Definition A perianal fistula is an abnormal tunnel formation between the anal canal and the perianal skin. Symptoms include: Recurrent perianal abscess, discharge, pain, irritation, and infection of the anal crypt glands.,

Definition: Peripheral artery disease is atherosclerotic occlusion of extremity arteries. Symptoms: Leg pain with walking, Coldness in the extremity, Non-healing wounds, Gangrene. Causes: Atherosclerosis, diabetes, smoking. Diagnosis: ABI, Doppler

Definition: Peripheral facial paralysis is the paralysis of the facial muscles caused by damage to the facial nerve at the peripheral level. Symptoms include loss of movement on one side of the face, inability to close the eyes, and inability to wrinkle the forehead.

Definition Pericarditis is inflammation of the membrane surrounding the heart. Symptoms Chest pain Fever Shortness of breath Palpitations Causes Viral infection, autoimmune diseases, post-heart attack. Diagnosis ECG, echocardiography, pericardial

Definition: Peutz-Jeghers syndrome is a hereditary syndrome characterized by mucocutaneous pigmentation and gastrointestinal polyposis. Symptoms: Lip and mouth pigmentation, gastrointestinal polyposis, increased cancer risk, intussusception, and causes.

Definition: Pfeiffer syndrome is a congenital syndrome characterized by craniosynostosis and broad thumbs and big toes. Symptoms: Craniosynostosis, broad thumbs, facial hypoplasia, hydrocephalus. Causes: FGFR1 or FGFR2.

Definition Pierre Robin sequence is a congenital syndrome characterized by micrognathia, glossoptosis, and airway obstruction. Symptoms Micrognathia Glossoptosis Cleft palate Respiratory distress Causes Isolated or

Definition: Pyruvate dehydrogenase deficiency is a metabolic disease characterized by impaired pyruvate metabolism, leading to lactic acidosis and neurological impairment. Symptoms: Lactic acidosis, neurological decline, hypotonia

Definition: Pyruvate kinase deficiency is the most common enzymopathic hemolytic anemia, characterized by hemolytic anemia, splenomegaly, and hyperbilirubinemia. Symptoms: Hemolytic anemia, splenomegaly, hyperbilirubinemia, fatigue. Causes: PKLR

Definition: Pyelonephritis is a bacterial infection of the kidneys. Symptoms: High fever, flank pain, nausea and vomiting, and burning sensation during urination. Causes: Bacterial infection, usually E. coli. Diagnosis: Urinalysis.,

Definition Placenta previa is the partial or complete obstruction of the cervix by the placenta. Symptoms: Painless vaginal bleeding, uterine tenderness, threatened preterm labor, fetal distress. Causes: Previous cesarean section, multiple pregnancies.

Definition Placental abruption is the separation of the placenta from the uterine wall before birth. Symptoms include sudden onset of severe abdominal pain, a hard and tender uterus, vaginal bleeding, and fetal distress. Causes include hypertension,

Definition: Polycystic ovary syndrome (PCOS) is a syndrome characterized by hormonal imbalance and ovulation problems. Symptoms: Irregular menstruation, excessive hair growth, acne, weight gain. Causes: Hormonal imbalance, insulin.

Definition: Polycystic ovary syndrome (PCOS) is a common endocrine disorder characterized by ovulation disorders, hyperandrogenism, and the appearance of polycystic ovaries. Symptoms: Irregular menstruation, excessive hair growth (hirsutism), acne, infertility.

Definition PCOS is a syndrome characterized by hormonal imbalance and ovulation problems. Symptoms: Irregular menstruation, excessive hair growth, acne, weight gain. Causes: Hormonal imbalance, insulin resistance, genetics.

Definition: Polymyalgia rheumatica is an inflammatory disease characterized by pain and stiffness in the neck, shoulders, and hips. Symptoms: Morning stiffness, Muscle pain, Fatigue, Loss of appetite. Causes: Autoimmune.

Definition Polymyositis is an autoimmune disease characterized by inflammation of the skeletal muscles. Symptoms Muscle weakness Difficulty swallowing Muscle pain Fatigue Causes Autoimmune mechanisms. Diagnosis Muscle enzymes, EMG,

Definition Polymyositis is an autoimmune disease characterized by inflammation of the skeletal muscles. Symptoms Muscle weakness Difficulty swallowing Muscle pain Fatigue Causes Autoimmune mechanisms. Diagnosis Muscle enzymes, EMG,

Definition Polycythemia vera is a myeloproliferative disease characterized by excessive red blood cell production by the bone marrow. Symptoms Headache Itching Spleen enlargement Hypertension Causes JAK2 mutation.

Definition Pompe disease is a lysosomal storage disease characterized by progressive myopathy and cardiomyopathy, resulting from acid alpha-glucosidase deficiency. Symptoms include hypotonia, cardiomegaly, respiratory failure, and progressive muscle

Definition: Porphyria is a group of metabolic diseases resulting from heme synthesis enzyme defects. Symptoms: Abdominal pain, neuropsychiatric symptoms, photosensitivity, dark urine. Causes: Enzyme defects, genetics. Diagnosis:

Definition Portal vein thrombosis is a condition characterized by clot formation in the portal vein. Symptoms Abdominal pain Ascites Splenic enlargement Esophageal variceal bleeding Causes Hypercoagulability, cirrhosis, abdominal

Definition Prader-Willi syndrome is a genetic disorder characterized by hypotonic infantile period, obesity due to hyperphagia, short stature, hypogonadism, and learning difficulties. Symptoms include severe hypotonia in infancy and

Definition: Preeclampsia is a condition characterized by hypertension and proteinuria after the 20th week of pregnancy. Symptoms: High blood pressure, protein in the urine, severe headache, visual disturbances. Causes: Placental

Definition: Premature ovarian failure is the loss of ovarian function before age 40. Symptoms: Menstrual cessation, hot flashes, night sweats, infertility. Causes: Autoimmune, genetic, chemotherapy, surgery. Diagnosis: Hormone

Definition: Presbyopia is a near vision impairment caused by the loss of flexibility of the eye lens due to aging. Symptoms: Difficulty seeing up close, increased reading distance, eye strain, headaches.

Definition: Primary aldosteronism is a disease characterized by hypertension and low blood potassium, resulting from excessive secretion of the hormone aldosterone from the adrenal glands. Symptoms: Hypertension, Muscle weakness, Headache

Definition: Primary biliary cholangitis is an autoimmune liver disease characterized by chronic, progressive destruction of the bile ducts. Symptoms: Fatigue, itching, jaundice, and liver enlargement. Causes: Autoimmune reaction. Diagnosis:

Definition Primary biliary cholangitis is a chronic, destructive inflammation of the small bile ducts. Symptoms: Itching, fatigue, jaundice, dry eyes and mouth. Causes: Autoimmune, genetic factors. Diagnosis: AMA test,

Definition: Primary dysmenorrhea is pain experienced during menstruation without any organic pathology. Symptoms: Cramp-like pain during menstruation, low back and groin pain, nausea, headache.

Definition: Primary hyperparathyroidism is a disease characterized by elevated blood calcium levels caused by excessive parathyroid hormone (PTH) production by the parathyroid glands. Symptoms include bone pain, kidney stones, fatigue, and depression.

Definition Primary immunodeficiency is the deficiency or dysfunction of innate immune system components. Symptoms Frequent infections Severe course of infections Developmental delay Autoimmune diseases Causes Genetic mutations.

Definition Primary myelofibrosis is a myeloproliferative disease characterized by fibrosis of the bone marrow. Symptoms Weakness Spleen enlargement Anemia Pruritus Causes JAK2, CALR, or MPL mutations. Diagnosis Bone

Definition: Primary sclerosing cholangitis is a chronic, progressive inflammation and fibrosis of the biliary tract. Symptoms: Itching, jaundice, fatigue, weight loss. Causes: Autoimmune, genetic predisposition. Diagnosis: ERCP, MRCP, liver

Definition Progressive osseous heteroplasia is a rare disease characterized by progressive heterotopic ossification of the skin and deep tissues. Symptoms: Skin ossification, Deep tissue ossification, Limited movement, Pain

Definition: Propionic acidemia is an organic acidemia characterized by a deficiency of the enzyme propionyl-CoA carboxylase, accompanied by metabolic acidosis and hyperammonemia. Symptoms: Metabolic acidosis, hyperammonemia, neutropenia, developmental delay. Causes:

Definition: Prostate cancer is a malignant tumor that develops in the prostate gland. Symptoms: Difficulty urinating, bloody urine, bone pain, weight loss. Causes: Age, family history, genetic factors. Diagnosis:

Definition: Prostatitis is inflammation of the prostate gland. Symptoms: Groin pain, difficulty urinating, fever, burning sensation while urinating. Causes: Bacterial infection, urinary tract infection. Diagnosis: Physical examination, urinalysis,

Definition Proteus syndrome is a rare disorder characterized by partial gigantism, lipomas, and epidermal nevus. Symptoms Partial gigantism Lipomas Epidermal nevus Bone hyperplasia Causes AKT1 gene

Definition Pseudoachondroplasia is a rare skeletal dysplasia characterized by short stature, joint laxity, and early osteoarthritis. Symptoms Short stature Joint laxity Early osteoarthritis Lordosis and kyphosis

Definition Pseudogout is an inflammatory arthritis characterized by the deposition of calcium pyrophosphate crystals in the joints. Symptoms Sudden joint pain Swelling Redness Especially affecting the knees Causes Calcium pyrophosphate crystal deposition.

Definition: Pseudohypoaldosteronism type 1 is a rare disease characterized by salt wasting, hyperkalemia, and metabolic acidosis resulting from renal resistance to the hormone aldosterone. Symptoms: Vomiting, Dehydration, and growth retardation.

Definition: Pseudoxanthoma elasticum is a multisystem disease characterized by calcification of elastic tissue. Symptoms: Yellow skin papules, Retinal angioid streaks, Cardiovascular complications, Gastrointestinal bleeding. Causes: ABCC6 gene

Definition Psoriatic arthritis is the inflammatory arthritis associated with psoriasis. Symptoms Joint pain Swelling Psoriatic lesions Nail changes Causes Autoimmune, genetic factors. Diagnosis Clinical findings, imaging.

Definition: Psoriasis is a chronic skin disease characterized by red, scaly lesions on the skin. Symptoms: Red, scaly skin lesions, Itching, Burning sensation, Nail changes. Causes: Autoimmune reaction, genetics.

Definition Psoriatic arthritis is the inflammatory arthritis associated with psoriasis. Symptoms Joint pain Swelling Psoriatic lesions Nail changes Causes Autoimmune, genetic factors. Diagnosis Clinical findings, imaging.

Definition: Pulmonary artery embolism is the occlusion of the pulmonary artery or its branches. Symptoms: Sudden shortness of breath, chest pain, palpitations, hemoptysis. Causes: Deep vein thrombosis, hypercoagulability. Diagnosis: CT pulmonary

Definition: Pulmonary embolism is the blockage of lung arteries by a blood clot. Symptoms: Sudden shortness of breath, chest pain, palpitations, bloody sputum. Causes: Deep vein thrombosis, immobility, clotting disorders.

Definition Pulmonary hypertension is a chronic elevation of pulmonary artery pressure. Symptoms Shortness of breath Fatigue Chest pain Syncope Causes Idiopathic, heart disease, COPD. Diagnosis Echocardiography, right heart

Definition Pulmonary hypertension is a disease characterized by increased pressure in the lung vessels. Symptoms Shortness of breath Fatigue Chest pain Fainting Causes Heart diseases, lung diseases, primary pulmonary

Definition Pulmonary stenosis is a congenital heart disease characterized by narrowing of the pulmonary valves. Symptoms: Fatigue, shortness of breath, palpitations, murmur. Causes: Congenital developmental abnormalities. Diagnosis: Echocardiography, heart

Definition: Pyknodysostosis is a rare bone disease characterized by short stature, brittle bones, and a characteristic facial appearance. Symptoms: Short stature, brittle bones, characteristic facial appearance, osteosclerosis, and causes.

Definition Rabson-Mendenhall syndrome is a rare genetic disease characterized by severe insulin resistance, dental anomalies, pineal hyperplasia, and signs of premature aging. Symptoms Severe insulin resistance Early

Cervical cancer is a malignant tumor that develops in the cervix. Symptoms include abnormal vaginal bleeding, pelvic pain, pain during intercourse, and foul-smelling discharge. Causes include HPV infection, smoking,

Definition: Raynaud's phenomenon is a decrease in blood flow to the fingers triggered by cold or stress. Symptoms: Paleness in the fingers, cyanosis, redness, pain, and numbness. Causes: Primary Raynaud's, secondary Raynaud's. Diagnosis:

Definition Raynaud phenomenon is a decrease in blood flow to the fingers triggered by cold or stress. Symptoms Paleness of the fingers Cyanosis Redness Pain and numbness Causes Primary Raynaud, secondary Raynaud (scleroderma,

Definition: Reactive arthritis is a sterile inflammatory arthritis that develops following infection. Symptoms: Joint pain, conjunctivitis, urethritis, skin lesions. Causes: Post-infectious autoimmune reaction. Diagnosis: Clinical triad, infection

Definition: Reactive arthritis is a sterile inflammatory arthritis that develops following infection. Symptoms: Joint pain, conjunctivitis, urethritis, skin lesions. Causes: Post-infectious autoimmune reaction. Diagnosis: Clinical triad, infection

Definition Refsum disease is a rare metabolic disease characterized by retinitis pigmentosa, ataxia, and peripheral neuropathy, resulting from the accumulation of phytanic acid. Symptoms Retinitis pigmentosa Ataxia Peripheral

Definition Restless legs syndrome is a neurological disorder characterized by uncomfortable sensations in the legs and an urge to move them. Symptoms Uncomfortable sensations in the legs, an urge to move them

Definition: Retinal detachment is the separation of the retina from the tissue beneath it. Symptoms: Flashes of light, floaters, a curtain falling across the visual field, and sudden vision loss. Causes: Eye trauma, high myopia, diabetes.,

Definition: Retinal artery occlusion is an emergency condition characterized by sudden vision loss due to blockage of the retinal arteries. Symptoms: Sudden, painless vision loss, loss of visual field, loss of light

Definition: Retinal vein occlusion is a vascular disease that develops as a result of blockage of retinal veins. Symptoms: Sudden vision loss, loss of visual field, distorted vision, intraocular hemorrhage.

Definition: Rett syndrome is a neurological disorder characterized by developmental regression and stereotypical hand movements in girls. Symptoms: Developmental regression, stereotypical hand movements, microcephaly, seizures, and causes.

Definition: Rhinitis is inflammation of the nasal mucosa. Symptoms: Runny nose, nasal congestion, sneezing, itching. Causes: Allergy, infection, irritants. Diagnosis: Clinical examination, allergy tests. Treatment: Antihistamines, nasal steroids,

Definition: Rheumatoid arthritis is a chronic autoimmune disease characterized by pain, swelling, and stiffness in the joints. Symptoms: Joint pain and swelling, morning stiffness, fatigue, and weight loss. Causes: Autoimmune

Rosacea is a chronic inflammatory skin disease characterized by facial redness, raised bumps, and dilated blood vessels. Symptoms include redness on the cheeks, nose, and forehead, and small red bumps.

Definition Rubinstein-Taybi syndrome is a syndrome characterized by broad thumbs and big toes, characteristic facial appearance, and developmental delay. Symptoms Broad thumbs, characteristic facial appearance, and developmental delay

Definition: Saethre-Chotzen syndrome is a congenital syndrome characterized by craniosynostosis, ptosis, and facial asymmetry. Symptoms: Craniosynostosis, ptosis, facial asymmetry, syndactyly. Causes: TWIST1 gene mutation. Diagnosis: Clinical

Definition: Gallstones are hard structures that form as a result of cholesterol or pigment accumulation within the gallbladder. Symptoms: Biliary colic, right upper quadrant pain, nausea, bloating.

Sarcoidosis is a multisystem disease characterized by the formation of small clusters of inflammatory cells called granulomas in various organs of the body. Symptoms include cough, shortness of breath, eye inflammation, and skin

Definition Schmid metaphyseal chondrodysplasia is a rare skeletal dysplasia characterized by short stature, genu varum, and metaphyseal dysplasia. Symptoms Short stature Genu varum Metaphyseal dysplasia Gait

Definition: Secondary dysmenorrhea is menstrual pain due to an underlying organic pathology. Symptoms: Severe pain during menstruation, Progressive pain, Pain during intercourse, Infertility. Causes: Endometriosis.,

Definition Selective IgA deficiency is the most common primary immunodeficiency characterized by markedly low serum and secretory IgA levels. Symptoms include frequent respiratory distress

Definition Syncope is a condition characterized by temporary loss of consciousness and postural tone. Symptoms Fainting Dizziness Nausea Sweating Causes Vasovagal syncope, cardiac causes, neurological

Definition Sepsis is a life-threatening condition that develops as a result of the body's uncontrolled response to infection. Symptoms include fever or hypothermia, rapid heartbeat, and rapid breathing.

Cerebral palsy is a motor dysfunction resulting from developmental brain damage. Symptoms include: Motor developmental delay, Muscle tone disorders, Balance and coordination problems, and Difficulty swallowing.

Definition: SIADH is a syndrome characterized by excessive water retention, hyponatremia, and inappropriate urine concentration resulting from inappropriate antidiuretic hormone (ADH) secretion. Symptoms: Nausea, vomiting

Definition: Simpson-Golabi-Behmel syndrome is an inherited disorder characterized by excessive growth, macrosomia, and increased risk of cancer. Symptoms: Excessive growth, macrosomia, coarse facial appearance, and increased risk of cancer. Causes: GPC3

Definition: Sinusitis is inflammation of the paranasal sinuses. Symptoms: Facial pain, nasal congestion, runny nose, decreased sense of smell. Causes: Viral and bacterial infections, allergies, nasal polyps. Diagnosis: Clinical examination.,

Definition: Systemic sclerosis is an autoimmune disease characterized by fibrosis of the skin and internal organs. Symptoms: Skin hardening, Raynaud phenomenon, difficulty swallowing, Lung fibrosis. Causes: Autoimmune, genetic.

Definition: Systemic sclerosis is an autoimmune disease characterized by fibrosis of the skin and internal organs. Symptoms: Skin hardening, Raynaud phenomenon, difficulty swallowing, Lung fibrosis. Causes: Autoimmune, genetic.

Definition Sjögren syndrome is an autoimmune disease affecting the exocrine glands. Symptoms Dry eyes Dry mouth Fatigue Joint pain Causes Autoimmune, genetic factors. Diagnosis Antibody tests, eye

Definition Sjögren syndrome is an autoimmune disease affecting the exocrine glands. Symptoms Dry eyes Dry mouth Fatigue Joint pain Causes Autoimmune, genetic factors. Diagnosis Antibody tests, eye

Definition: Smith-Magenis syndrome is a genetic syndrome characterized by developmental delay, behavioral problems, and sleep disturbances. Symptoms: Developmental delay, self-harm, sleep disturbances, behavioral problems

Definition: A somatostatinoma is a very rare neuroendocrine tumor originating in the pancreas or duodenum that secretes excess somatostatin. Symptoms: Diabetes, gallstones, steatorrhea (oily stool), weight loss. Causes: Sporadic.

Definition Sotos syndrome is a hereditary disorder characterized by overgrowth, macrocephaly, and developmental delay. Symptoms Overgrowth Macrocephaly Developmental delay Characteristic face Causes NSD1 gene

Definition: Sphingolipidosis is a group of lysosomal storage diseases characterized by disorders of sphingolipid metabolism. Symptoms: Neurological regression, organomegaly, skeletal abnormalities, vision problems. Causes: Various enzyme defects. Diagnosis:

Definition Spina bifida is a congenital developmental defect of the spine and spinal cord. Symptoms: A sac in the lumbar region, lower extremity paralysis, bladder and bowel problems, hydrocephalus. Causes: Folic acid deficiency.,

Definition Spondyloepiphyseal dysplasia congenita is a rare skeletal dysplasia characterized by short stature, platyspondylia, and myopia. Symptoms Short stature Platyspondylia Myopia Cleft palate Causes COL2A1 gene

Definition: Stickler syndrome is an inherited connective tissue disease characterized by myopia, risk of retinal detachment, and facial anomalies. Symptoms: Myopia, risk of retinal detachment, cleft palate, hearing loss.

Definition Sturge-Weber syndrome is a neurocutaneous syndrome characterized by facial port-wine stain, seizures, and eye abnormalities. Symptoms Port-wine stain Seizures Glaucoma Neurological deficit Causes Sporadic GNAQ

Definition Subacute thyroiditis is a painful inflammation of the thyroid gland. Symptoms Neck pain Fever Thyroid tenderness Hyperthyroidism symptoms Causes Viral infections, autoimmune reactions. Diagnosis Thyroid function tests, ultrasound,

Definition Subacute thyroiditis is a painful inflammation of the thyroid, usually following a viral infection. Symptoms Fever Neck pain Difficulty swallowing Palpitations Causes Viral infections (e.g., mumps, influenza).

Definition Subarachnoid hemorrhage is bleeding into the space between the brainstem vessels. Symptoms Sudden severe headache Nausea and vomiting Loss of consciousness Neck stiffness Causes Aneurysm rupture, trauma.

Definition: Takayasu arteritis is a vasculitis characterized by granulomatous inflammation of the large arteries. Symptoms: Weakness in the arms and legs, dizziness, visual disturbances, and loss of pulse. Causes: Autoimmune mechanisms. Diagnosis:

Thalassemia is a hereditary type of anemia caused by a defect in hemoglobin synthesis. Symptoms: Fatigue, pallor, growth retardation, bone deformities. Causes: Deficiency in globin chain synthesis. Diagnosis: Hemoglobin

Definition Tarsal tunnel syndrome is a condition characterized by pain and numbness in the foot caused by compression of the posterior tibial nerve behind the medial malleolus. Symptoms include: Burning sensation in the sole of the foot, numbness, and swelling.

Definition Tay-Sachs disease is a lysosomal storage disease caused by a deficiency of the enzyme hexosaminidase A. Symptoms include: Neurological decline, vision loss, muscle weakness, cherry-red macula, and HEXA gene.

Definition: Testicular cancer is a malignant tumor that develops in the testicles. Symptoms: A testicular mass, pain or discomfort, testicular swelling, abdominal pain. Causes: Cryptorchidism, family history, genetics. Diagnosis: Ultrasound.,

Definition: Testicular torsion is the disruption of blood flow to the testicle due to twisting of the spermatic cord. Symptoms include sudden onset of severe testicular pain, swelling and redness of the testicle, nausea and vomiting, and groin pain.

Definition Thanatophoric dysplasia is a rare skeletal dysplasia characterized by severe short stature, rib cage hypoplasia, and a lethal course. Symptoms Severe short stature, rib cage hypoplasia

Definition Tinnitus is the sensation of hearing sound in the ear or head without any external sound stimulus. Symptoms: Ringing in the ears, Humming, Buzzing, Difficulty in hearing, Causes: Hearing loss, noise exposure,

Definition: High blood sugar levels occur as a result of the body becoming resistant to insulin or not producing enough insulin. Symptoms: Frequent urination, Excessive thirst, Unexplained weight loss, Fatigue. Causes: Obesity.,

Definition: A thyroid nodule is an abnormal cell cluster within the thyroid gland. While most are benign, some can be cancerous. Symptoms: Usually asymptomatic. Palpable in the neck.

Definition Tyrosinemia type I is a metabolic disease characterized by a deficiency of the enzyme fumarylacetoacetase, leading to liver failure and renal tubular dysfunction. Symptoms: Liver failure, Renal Fanconi

Definition: Tonsillitis is inflammation of the tonsils. Symptoms: Sore throat, difficulty swallowing, fever, swollen lymph nodes in the neck. Causes: Viral or bacterial infections. Diagnosis: Clinical examination, throat culture. Treatment:

Definition Thoracic outlet syndrome is a syndrome characterized by compression of neurovascular structures in the thoracic outlet region. Symptoms include pain in the arm and hand, numbness, weakness, and color change. Causes: Costoclavicular

Definition: Tourette syndrome is a neurological disorder characterized by motor and vocal tics. Symptoms: Motor tics, Vocal tics, Coprolalia, Attention deficit. Causes: Genetics, neurotransmitter imbalances. Diagnosis: Clinical

Definition Treacher Collins syndrome is a congenital syndrome characterized by hypoplasia of the facial bones. Symptoms: Malar hypoplasia, lower eyelid coloboma, microtia, hearing loss. Causes: TCOF1 gene.

Definition: Trichothiodystrophy is a rare genetic disease characterized by brittle hair, physical and mental developmental delays, photosensitivity, and neurological disorders. Symptoms: Brittle, low-sulfur hair.

Definition Trigeminal neuralgia is a neurological disorder characterized by sudden, severe, stinging pain attacks in the distribution area of the trigeminal nerve in the face. Symptoms include a lightning-like pain in the face.

Definition Trigeminal neuralgia is a pain syndrome characterized by attacks of severe, sudden, stinging pain in the distribution of the trigeminal nerve. Symptoms include: Facial pain with a lightning-like appearance. Pain triggering.

Definition Thrombocytopenia is a decrease in the number of platelets in the blood. Symptoms: Easy bruising, Petechiae and purpura, Nose and gum bleeding, Prolonged bleeding, Causes: ITP, bone marrow diseases,

Definition: Thrombotic thrombocytopenic purpura is a life-threatening disease characterized by microangiopathic hemolytic anemia and thrombocytopenia. Symptoms: Neurological findings, fever, renal failure, bleeding. Causes: ADAMTS13

Definition: Tuberculosis is an infectious disease caused by the bacterium Mycobacterium tuberculosis. Symptoms: Persistent cough, blood in sputum, night sweats, weight loss. Causes: Mycobacterium tuberculosis infection. Diagnosis: Lung

Definition Tuberous sclerosis is a neurocutaneous syndrome characterized by multiple organ involvement and benign tumors. Symptoms Seizures Facial angiofibromas Mental retardation Renal angiomyolipomas Causes TSC1 or

Definition Turner syndrome is a chromosomal disorder characterized by short stature, ovarian failure, and various somatic anomalies resulting from the complete or partial loss of an X chromosome.

Ulnar tunnel syndrome is a neuropathy that develops as a result of compression of the ulnar nerve at the elbow or wrist. Symptoms include numbness in the 4th and 5th fingers, weakness in the hand, and fine motor problems.

Definition: An ulcer is tissue loss that develops in the stomach or duodenum. Symptoms: Stomach pain, burning sensation, nausea, loss of appetite. Causes: Helicobacter pylori, NSAIDs, stress. Diagnosis: Endoscopy.,

Definition: Ulcerative colitis is an inflammatory disease of the large intestine. Symptoms: Bloody diarrhea, abdominal pain, fever, and weight loss. Causes: Autoimmune reaction, genetic factors. Diagnosis: Colonoscopy, biopsy, blood test.

Definition: Ulcerative proctitis is an inflammatory disease of the rectum and is a form of ulcerative colitis that affects only the rectum. Symptoms: Rectal bleeding, increased bowel movements, rectal pain, mucus-stained stools. Causes:

Definition: Ureteral stones are hard masses composed of mineral and salt deposits that lodge in the ureter. Symptoms: Severe flank pain, nausea and vomiting, blood in the urine, and frequent urination.

Definition: Urethral stricture is the restriction of urine flow due to narrowing of the urethral lumen. Symptoms: Weak urine flow, frequent urination, difficulty urinating, urinary retention. Causes: Infection, trauma,

Definition: Uveitis is inflammation of the uveal layer of the eye. Symptoms: Eye pain, redness, sensitivity to light, blurred vision. Causes: Autoimmune diseases, infection, trauma. Diagnosis: Biomicroscopy, ophthalmoscopy, laboratory tests. Treatment:

Definition: Sleep apnea is the recurring cessation of breathing during sleep. Symptoms: Loud snoring, excessive daytime sleepiness, morning headache, difficulty concentrating. Causes: Obstructive, central

Definition: Varicocele is the enlargement and varicose vein formation of the testicular venous plexus. Symptoms: Pain and discomfort in the testicle, Swelling in the testicle, Infertility, More common in the left testicle. Causes:

Definition: Vasculitis is a group of diseases characterized by inflammation of blood vessels. Symptoms: Fever, Weight loss, Muscle pain, Skin rashes. Causes: Autoimmune, infection, drug reactions. Diagnosis: Angiography.,

Definition: VATER/VACTERL association is a syndrome characterized by the association of vertebral, anal, cardiac, tracheoesophageal, renal, and limb anomalies. Symptoms: Vertebral anomalies, anal atresia, cardiac defects, and tracheoesophageal fistula.

Definition: Vasomotor rhinitis is a non-allergic inflammation of the nose caused by dysfunction of the autonomic nervous system. Symptoms: Nasal congestion, runny nose, sneezing, no obvious allergen. Causes: Autonomic nervous system

Definition Velocardiofacial syndrome is a syndrome characterized by cleft palate, congenital heart defects, and a characteristic facial appearance. Symptoms Cleft palate Congenital heart defect Characteristic face Learning

Definition: Ventricular septal defect is a hole in the septum between the ventricles of the heart. Symptoms: Rapid breathing, difficulty feeding, sweating, growth retardation. Causes: Congenital developmental disorder. Diagnosis: Echocardiography, heart

Definition: Ventricular tachycardia is a dangerous type of arrhythmia that occurs in the ventricles of the heart. Symptoms: Palpitations, dizziness, chest pain, fainting. Causes: Coronary artery disease, cardiomyopathy, heart failure. Diagnosis:

Definition Vertigo is dizziness characterized by the illusion of movement. Symptoms Dizziness Nausea and vomiting Loss of balance Sweating Causes Benign paroxysmal positional vertigo, Meniere's disease, vestibular

Definition: Vestibular neuronitis is a disease characterized by sudden onset of vertigo resulting from inflammation of the vestibular nerve. Symptoms include sudden onset of severe dizziness, nausea, and vomiting, and loss of balance.

Definition VIPoma is a rare tumor arising from the delta cells of the pancreas that secretes excessive vasoactive intestinal peptide (VIP). It is characterized by watery diarrhea, hypokalemia, and achlorhydria. Symptoms include severe, watery

Definition: VLCAD deficiency is a metabolic disease characterized by a defect in very long-chain fatty acid oxidation, characterized by cardiomyopathy and hypoketotic hypoglycemia. Symptoms: Hypoketotic hypoglycemia, cardiomyopathy

Definition Von Hippel-Lindau (VHL) disease is an autosomal dominant tumor syndrome characterized by the development of benign and malignant tumors in multiple organs. Symptoms Central nervous system hemangioblastomas

Definition Von Hippel-Lindau disease is an inherited syndrome characterized by benign and malignant tumors in multiple organs. Symptoms Retinal hemangioblastoma Cerebellar hemangioblastoma Kidney carcinoma Pheochromocytoma Causes VHL

Definition: Von Willebrand disease is an inherited bleeding disorder caused by a deficiency or dysfunction of von Willebrand factor. Symptoms include nosebleeds, easy bruising, and bleeding gums.

Definition: Von Willebrand disease is an inherited bleeding disorder caused by a deficiency or dysfunction of von Willebrand factor. Symptoms include nosebleeds, easy bruising, and bleeding gums.

Definition Wagner syndrome is a rare syndrome characterized by vitreoretinal degeneration, cataracts, and a risk of retinal detachment. Symptoms Vitreoretinal degeneration Cataracts Risk of retinal detachment Progressive vision loss

Definition WAGR syndrome is a syndrome characterized by Wilms tumor, aniridia, genitourinary anomalies, and mental retardation. Symptoms Wilms tumor, aniridia, genitourinary anomalies, developmental delay Causes 11p13

Definition: Waldenström macroglobulinemia is a rare lymphoproliferative disorder characterized by infiltration of lymphoplasmacytic cells and IgM monoclonal gammopathy. Symptoms: Weakness, Nosebleeds, Visual disturbances, Neuropathy. Causes: Unknown.,

Definition: Weaver syndrome is an inherited disorder characterized by excessive growth, advanced bone age, and developmental delay. Symptoms: Excessive growth, advanced bone age, developmental delay, hypertelorism

Definition Weill-Marchesani syndrome is a rare syndrome characterized by short stature, microspherophakia, and limited joint mobility. Symptoms Short stature Microspherophakia Limited joint mobility Glaucoma Causes ADAMTS10,

Definition Werner syndrome is an autosomal recessive progeroid syndrome characterized by premature aging, cataracts, skin changes, and a predisposition to cancer. Symptoms: Signs of premature aging at a young age.

Williams syndrome is a genetic disorder characterized by an elfin face, cardiovascular anomalies, and developmental delay. Symptoms: Elfin face, supravillous aortic stenosis, hypercalcemia, and developmental delay. Causes:

Definition: Wilson's disease is an inherited disorder characterized by copper accumulation in the liver and brain resulting from a defect in copper metabolism. Symptoms: Jaundice, Tremor, Psychiatric symptoms, Kayser-Fleischer ring. Causes:

Definition Wilson's disease is an inherited disorder characterized by copper accumulation in the liver and brain resulting from a defect in copper metabolism. Symptoms include liver failure, neurological symptoms, and Kayser-Fleischer ring. Psychiatric

Definition: Wolf-Hirschhorn syndrome is a syndrome characterized by developmental delay, convulsions, and a characteristic facial appearance. Symptoms: Developmental delay, convulsions, Greek helmet face, growth retardation. Causes: 4p16.3

Definition Wolfram syndrome is a rare, autosomal recessive neurodegenerative disease characterized by Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Hearing Loss (DIDMOAD). Symptoms begin in childhood.

Wolman disease is a lethal lysosomal storage disease characterized by severe hepatosplenomegaly and adrenal calcification, resulting from acid lipase deficiency. Symptoms: Hepatosplenomegaly, adrenal calcification

Definition: Xeroderma pigmentosum is a hereditary disease characterized by extreme photosensitivity and a risk of skin cancer, resulting from a defect in the DNA repair mechanism. Symptoms: Extreme sun sensitivity. Frequency.

Definition: Pneumonia is a serious respiratory illness that develops as a result of infection of the lung tissue. Symptoms: High fever, cough, chest pain, shortness of breath. Causes: Bacterial, viral, or fungal.

Definition Zellweger syndrome is a lethal disease characterized by peroxisome dysfunction, severe neurological findings, and a dysmorphic face. Symptoms include severe hypotonia, characteristic facial features, and liver