Dibasic aminoaciduria 2: A rare condition where protein intolerance occurs as a result of a defect in the transport of dibasic amino acids through the intestines and kidneys. The amino acids (component of protein) can't be broken down properly and used by the body so it builds up and causes damage.
Dicarboxylicaminoaciduria: A rare metabolic syndrome involving a defect in the transport of certain amino acids (glutamate, aspartate) and resulting in high levels of dicarboxylic amino acids in the urine. Often no observable symptoms occur.
Die Smulders-Droog-Van Dijk syndrome (medical condition): A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove. Die Smulders-Droog-Van Dijk syndrome: Another name for Blepharophimosis - nasal groove - growth retardation (or close medical condition association).
Die-Smulders-Vles-Fryns syndrome: A very rare disorder characterized by facial anomalies, long thin fingers and mental retardation.
Diencephalic syndrome of infancy: A rare syndrome usually caused by a brain tumor located near the hypothalamus and results in symptoms such as low blood sugar, pale skin and loss of skin fat and failure to thrive.
Dieterich's disease: A rare disorder involving destruction of the head of the metacarpal bone due to an interrupted blood supply to the bone. The metacarpal bone is the hand bone that attaches to the finger bones. The disorder is often associated with trauma, steroid use or systemic lupus erythematosus .
Diethylstilbestrol antenatal infection: A very rare syndrome characterized mainly caused by exposure to diethylstilbestrol (used to prevent complications during pregnancy such as miscarriage and prematurity) during pregnancy.
Diffuse idiopathic skeletal hyperostosis: A form of degenerative arthritis characterized by calcification on the sides of the spine vertebrae as well as inflammation and calcification of tendons where they attach to bone which often results in bone spurs.
A Diffuse Intrinsic Pontine Glioma (DIPG) is a tumor located in the pons (middle) of the brain stem. The brain stem is the bottom most portion of the brain, connecting the cerebrum with the spinal cord. The majority of brain stem tumors occur in the pons (middle brain stem), are diffusely infiltrating (they grow amidst the nerves), and therefore are not able to be surgically removed. Glioma is a general name for any tumor that arises from the supportive tissue called glia, which help keep the neurons ("thinking cells") in place and functioning well. The brain stem contains all of the "wires" converging from the brain to the spinal cord as well as important structures involved in eye movements, face and throat muscle control and sensation.
Diffuse large B-cell lymphoma (DLBCL or DLBL) is a cancer of B cells, a type of white blood cell responsible for producing antibodies. It is the most common type of non-Hodgkin lymphoma among adults,with an annual incidence of 7–8 cases per 100,000 people per year. This cancer occurs primarily in older individuals, with a median age of diagnosis at approximately 70 years of age, though it can also occur in children and young adults in rare cases. DLBCL is an aggressive tumor which can arise in virtually any part of the body, and the first sign of this illness is typically the observation of a rapidly growing mass, sometimes associated with fever, weight loss, and night sweats.
The causes of diffuse large B-cell lymphoma are not well understood. Usually DLBCL arises from normal B cells, but it can also represent a malignant transformation of other types of lymphoma or leukemia. An underlying immunodeficiency is a significant risk factor. Infection with Epstein–Barr virus has also been found to contribute to the development of some subgroups of DLBCL.
Diagnosis of DLBCL is made by removing a portion of the tumor through a biopsy, and then examining this tissue using a microscope. Usually a hematopathologist makes this diagnosis. Several subtypes of DLBCL have been identified, each having a different clinical presentation and prognosis. However, the usual treatment for each of these is chemotherapy, often in combination with an antibody targeted at the tumor cells.Through these treatments, more than half of patients with DLBCL can be cured, and the overall five-year survival rate for older adults is around 58%.
Diffuse neonatal hemangiomatosis: A very rare syndrome characterized mainly by multiple capillary hemangiomas as well as other abnormalities.
Diffuse palmoplantar keratoderma, Bothnian type: Thickened skin on palms and soles.
Diffuse panbronchiolitis: A pulmonary disease involving chronic inflammation of the airways which causes obstruction and can lead to respiratory failure and even death if untreated.
Scleroderma is a chronic autoimmune disease characterized by a hardening or sclerosis in the skin or other organs. The localized type of the disease, known as "morphea", while disabling, tends not to be fatal. The systemic type or systemic sclerosis, the generalized type of the disease, can be fatal, as a result of heart, kidney, lung or intestinal damage. It is currently not fully understood what exactly causes this disease, although there are various theories.
DiGeorge syndrome is caused by the deletion of a small piece of chromosome 22. As such, it is recommended that the name "22q11.2 deletion syndrome (22q11.2DS)" be used.
22q11.2DS is the most common microdeletion syndrome characterized by low copy repeats and the deletion occurs near the middle of the chromosome at a location designated 22q11.2—signifying its location on the long arm of one of the pair of chromosomes 22, on region 1, band 1, sub-band 2. The inheritance pattern is autosomal dominant and it has a prevalence estimated at 1:4000. The syndrome was described in 1968 by the pediatric endocrinologist Angelo DiGeorge. 22q11 deletion is also associated with truncus arteriosus and tetralogy of Fallot.
Digestive duplication: Duplication of a part of the digestive system. Duplication of the anal canal is the least common where as duplication of the Symptoms vary depending on what part of the digestive system is duplicated.
Digitorenocerebral syndrome: A very rare syndrome characterized by numerous abnormalities involving the brain, kidneys, fingers, toes, nails and face as well as mental retardation and vision impairment.
Dihydropyrimidine dehydrogenase deficiency: A metabolic error where a deficiency of an enzyme called dihydropyrimidine dehydrogenase prevents the normal metabolism of certain proteins. High levels of certain proteins are excreted in the urine. The enzyme is also needed the breakdown a chemotherapy drug called 5-flurouracil and its absence can result in a severe toxicity reaction.
Dilated cardiomyopathy is a disease of the heart muscle which primarily affects the heart's main pumping chamber, the left ventricle. It is the most common type of cardiomyopathy and typically affects those aged 20 to 60. The left ventricle of affected individuals becomes enlarged (dilated) and cannot pump blood to the body with as much force as a healthy heart can. The term "cardiomyopathy" is a general term that refers to the abnormality of the heart muscle itself. Dilated cardiomyopathy might not cause symptoms, but for some people it can be life-threatening. A common cause of heart failure — the heart's inability to supply the body with enough blood — dilated cardiomyopathy can also contribute to irregular heartbeats (arrhythmias), blood clots or sudden death.
Dimauro disease (medical condition): A rare inborn error of metabolism where an enzyme deficiency (muscle phosphoglycerate mutase) affects the muscles, especially during periods of strenuous activity. Dimauro disease: Another name for Muscle phosphoglycerate mutase deficiency (or close medical condition association).
Dincsoy-Salih-Patel syndrome: A very rare syndrome characterized mainly by a cleft lip and palate, brain abnormality, short limbs and genital abnormalities.
Dinno-Shearer-Weisskopf syndrome: A very rare syndrome characterized mainly by long limbs, tall stature, large head, ataxia and facial anomalies.
Diomedi-Bernardi-Placidi syndrome:
Dionisi-Vici-Sabetta-Gambarara syndrome: A very rare syndrome characterized mainly by brain abnormality, cataract and immunodeficiency.
Diphallia: An extremely rare birth malformation where males are born with two penises. The degree of duplication is variable as is the way urine is excreted. The malformation is usually associated with abnormalities such as duplication of other organs.
Diphallus - rachischisis - imperforate anus: A very rare syndrome characterized mainly by genital abnormalities, absent anal opening and malformed vertebrae.
Diphosphoglycerate mutase deficiency of erythrocyte: A rare inherited condition where a deficiency of an erythrocyte enzyme diphosphoglycerate mutase in red blood cells impairs the ability of red blood cells to deliver oxygen to body tissues that need it. In response, the body produces more red blood cells to assist oxygen delivery.
Diphtheria (from Greek: διφθέρα diphthera, meaning leather) is an infection caused by the bacterium Corynebacterium diphtheriae. Signs and symptoms may vary from mild to severe. They usually start two to five days after exposure. Symptoms often come on fairly gradually beginning with a sore throat and fever. In severe cases a grey or white patch develops in the throat.This can block the airway and create a barking cough as in croup. The neck may swell in part due to large lymph nodes. A form of diphtheria that involves the skin, eyes, or genitals also exists. Complications may include myocarditis, inflammation of nerves, kidney problems, and bleeding problems due to low blood platelets. Myocarditis may result in an abnormal heart rate and inflammation of the nerves may result in paralysis.
Diphtheria is usually spread between people by direct contact or through the air. It may also be spread by contaminated objects. Some people carry the bacteria without having symptoms, but can still spread the disease to others. There are three main types of C. diphtheriae causing different severities of disease. The symptoms are due to a toxin produced by the bacteria. Diagnosis can often be made based on the appearance of the throat with confirmation by culture. Previous infection may not prevent against future infection.
Diprosopia: A very rare syndrome characterized by various facial anomalies, anencephaly and cleft lip and palate.
Developmental dislocation of the hip joint; Developmental hip dysplasia; DDH; Congenital dysplasia of the hip; Congenital dislocation of the hip; CDH Developmental dysplasia of the hip (DDH) is a dislocation of the hip joint that is present at birth. The condition is found in babies or young children.