Contexts stringlengths 0 32.3k | Questions stringlengths 14 191 | Answers stringlengths 6 29k ⌀ |
|---|---|---|
What is (are) Chiari malformation type 1 ? | Chiari malformation type 1 is a structural abnormality of the cerebellum, the part of the brain that controls balance. It involves the extension of the lower part of the cerebellum into the foramen magnum (the large hole at the base of the skull which allows passage of the spinal cord), without involving the brainstem.... | |
What are the symptoms of Chiari malformation type 1 ? | What are the signs and symptoms of Chiari malformation type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus... | |
What causes Chiari malformation type 1 ? | What causes Chiari malformation type 1? Primary or congenital Chiari malformations are caused by structural defects in the brain and spinal cord that occur during fetal development. The underlying cause of the structural defects are not completely understood, but may involve genetic mutations or lack of proper vitamins... | |
What are the treatments for Chiari malformation type 1 ? | How might Chiari malformation type 1 be treated? Some individuals with Chiari malformation type 1 are asymptomatic and do not require treatment. Individuals who have minimal symptoms, without syringomyelia, can typically be treated conservatively. Mild neck pain and headaches can usually be treated with pain medication... | |
What is (are) Abdominal aortic aneurysm ? | Abdominal aortic aneurysms (AAAs) are aneurysms that occur in the part of the aorta that passes through the abdomen. They may occur at any age, but are most common in men between 50 and 80 years of age. Many people with an AAA have no symptoms, but some people have a pulsing sensation in the abdomen and/or pain in the ... | |
What are the symptoms of Abdominal aortic aneurysm ? | What are the signs and symptoms of Abdominal aortic aneurysm? The Human Phenotype Ontology provides the following list of signs and symptoms for Abdominal aortic aneurysm. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus M... | |
Is Abdominal aortic aneurysm inherited ? | Is abdominal aortic aneurysm inherited? Abdominal aortic aneurysm (AAA) is thought to be a multifactorial condition, meaning that one or more genes likely interact with environmental factors to cause the condition. In some cases, it may occur as part of an inherited syndrome. Having a family history of AAA increases th... | |
What are the symptoms of Meckel syndrome type 2 ? | What are the signs and symptoms of Meckel syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Meckel syndrome type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical... | |
What is (are) Factor XIII deficiency ? | Factor XIII deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. Signs and symptoms occur as the result of a deficiency in the blood clotting factor 13, which is responsible for stabilizing the formation of a blood clot. In affected indi... | |
What are the symptoms of Factor XIII deficiency ? | What are the signs and symptoms of Factor XIII deficiency? Factor XIII deficiency causes internal bleeding. The blood may seep into surrounding soft tissues several days after trauma, even mild trauma such as a bump or bruise. Pain and swelling may occur at the injury site prior to bleeding. If the bleeding continues, ... | |
What are the treatments for Factor XIII deficiency ? | How might factor XIII be treated? The amount of Factor XIII necessary for a normal response to trauma is only about 10 percent of that in the normal plasma. People with Factor XIII deficiency are generally given small infusions of fresh or frozen blood plasma (cryoprecipitates), or Factor XIII concentrates every three ... | |
What are the symptoms of Ectodermal dysplasia mental retardation syndactyly ? | What are the signs and symptoms of Ectodermal dysplasia mental retardation syndactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia mental retardation syndactyly. If the information is available, the table below includes how often the symptom is seen in people ... | |
What is (are) Multicentric reticulohistiocytosis ? | Multicentric reticulohistiocytosis is a disease that is characterized by the presence of papules and nodules and associated with arthritis mutilans. The disease can involve the skin, the bones, the tendons, the muscles, the joints, and nearly any other organ (e.g., eyes, larynx, thyroid, salivary glands, bone marrow, h... | |
What are the symptoms of Multicentric reticulohistiocytosis ? | What are the signs and symptoms of Multicentric reticulohistiocytosis? The main symptoms of multicentric reticulohistiocytosis are arthritis and red to purple skin nodules varying in size from 1 to 10 mm. The nodules can be found on any part of the body but tend to concentrate on the face and hands and decrease in numb... | |
What are the treatments for Multicentric reticulohistiocytosis ? | How might multicentric reticulohistiocytosis be treated? Dermatologists and rheumatologists are often the types of specialists that oversee the treatment of patients with multicentric reticulohistiocytosis. Although no specific therapy has consistently been shown to improve multicentric reticulohistiocytosis, many diff... | |
What is (are) Factor XI deficiency ? | Factor XI deficiency is a bleeding disorder that interferes with the body's clotting process. As a result, people affected by this condition may have difficulty stopping the flow of blood following dental extractions, trauma or surgery. Women with factor XI deficiency may also experience heavy menstrual periods or heav... | |
What are the symptoms of Factor XI deficiency ? | What are the signs and symptoms of Factor XI deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Factor XI deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dic... | |
What are the symptoms of Pseudoaminopterin syndrome ? | What are the signs and symptoms of Pseudoaminopterin syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoaminopterin syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus... | |
What is (are) GM1 gangliosidosis type 2 ? | GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult ons... | |
What are the symptoms of GM1 gangliosidosis type 2 ? | What are the signs and symptoms of GM1 gangliosidosis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for GM1 gangliosidosis type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus M... | |
What are the symptoms of Iminoglycinuria ? | What are the signs and symptoms of Iminoglycinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Iminoglycinuria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to... | |
What are the symptoms of Epidermolysis bullosa simplex, localized ? | What are the signs and symptoms of Epidermolysis bullosa simplex, localized? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa simplex, localized. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | |
What are the symptoms of Autosomal dominant optic atrophy and cataract ? | What are the signs and symptoms of Autosomal dominant optic atrophy and cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant optic atrophy and cataract. If the information is available, the table below includes how often the symptom is seen in people with this ... | |
What are the symptoms of Hemangiomatosis, familial pulmonary capillary ? | What are the signs and symptoms of Hemangiomatosis, familial pulmonary capillary? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemangiomatosis, familial pulmonary capillary. If the information is available, the table below includes how often the symptom is seen in people with this ... | |
What are the symptoms of Cataract, posterior polar, 1 ? | What are the signs and symptoms of Cataract, posterior polar, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract, posterior polar, 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... | |
What are the symptoms of Branchial arch syndrome X-linked ? | What are the signs and symptoms of Branchial arch syndrome X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Branchial arch syndrome X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | |
What is (are) MYH-associated polyposis ? | MYH-associated polyposis is an inherited condition characterized by the development of multiple adenomatous colon polyps and an increased risk of colorectal cancer. This condition, a milder form of familial adenomatous polyposis (FAP), is sometimes called autosomal recessive familial adenomatous polyposis because it is... | |
What are the symptoms of MYH-associated polyposis ? | What are the signs and symptoms of MYH-associated polyposis? The Human Phenotype Ontology provides the following list of signs and symptoms for MYH-associated polyposis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Med... | |
What causes MYH-associated polyposis ? | What causes MYH-associated polyposis? Mutations in the MYH gene cause MYH-associated polyposis. Mutations in this gene prevent cells from correcting mistakes that are made when DNA is copied (DNA replication) in preparation for cell division. As these mistakes build up in a person's DNA, the likelihood of cell overgrow... | |
What is (are) Baller-Gerold syndrome ? | Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands, sometimes referred to as radial ray anomalies. Many cases of Baller-Gerold syndrome are caused by mutations in the RECQL4 gene. These cases are inh... | |
What are the symptoms of Baller-Gerold syndrome ? | What are the signs and symptoms of Baller-Gerold syndrome? Many people with Baller-Gerold syndrome have prematurely fused skull bones along the coronal suture, the growth line that goes over the head from ear to ear. Other parts of the skull may be malformed as well. These changes result in an abnormally shaped head, a... | |
What are the symptoms of Acatalasemia ? | What are the signs and symptoms of Acatalasemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Acatalasemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look ... | |
What are the symptoms of Ehlers-Danlos syndrome with periventricular heterotopia ? | What are the signs and symptoms of Ehlers-Danlos syndrome with periventricular heterotopia? The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome with periventricular heterotopia. If the information is available, the table below includes how often the symptom is seen ... | |
What is (are) Char syndrome ? | Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities. Char syndrome is caused by mutations in the TFAP2B gene and is i... | |
What are the symptoms of Char syndrome ? | What are the signs and symptoms of Char syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Char syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to loo... | |
What is (are) Methylcobalamin deficiency cbl G type ? | Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of t... | |
What are the symptoms of Methylcobalamin deficiency cbl G type ? | What are the signs and symptoms of Methylcobalamin deficiency cbl G type? The Human Phenotype Ontology provides the following list of signs and symptoms for Methylcobalamin deficiency cbl G type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | |
What is (are) Kaposi sarcoma ? | Kaposi sarcoma (KS) is a cancer that develops from the cells that line lymph or blood vessels. It usually appears as tumors on the skin or on mucosal surfaces such as inside the mouth, but tumors can also develop in other parts of the body (including the lymph nodes, lungs, or digestive tract). The abnormal cells of Ka... | |
What are the symptoms of Kaposi sarcoma ? | What are the signs and symptoms of Kaposi sarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Kaposi sarcoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to l... | |
What are the symptoms of Benign recurrent intrahepatic cholestasis ? | What are the signs and symptoms of Benign recurrent intrahepatic cholestasis? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign recurrent intrahepatic cholestasis. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | |
What is (are) Familial exudative vitreoretinopathy ? | Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the light-sensitive tissue that lines the back of the eye, by preventing blood vessels from forming at the edges of the retina. This reduces the blood supply to retina. The sig... | |
Is Familial exudative vitreoretinopathy inherited ? | How is familial exudative vitreoretinopathy inherited? FEVR has different inheritance patterns depending on the gene involved. Most individuals have the autosomal dominant form of this condition, caused by mutations in the FZD4 or LRP5 gene. FEVR caused by LRP5 gene mutations can also have an autosomal recessive inheri... | |
What are the treatments for Familial exudative vitreoretinopathy ? | How might familial exudative vitreoretinopathy be treated? Affected individuals with abnormal blood vessel formation in their retina can be treated with laser therapy. Surgery may also be necessary to correct retinal detachment. | |
What is (are) Septo-optic dysplasia ? | Septo-optic dysplasia is a disorder of early brain development. The signs and symptoms vary from person to person; however, underdevelopment (hypoplasia) of the optic nerve, abnormal formation of structures along the midline of the brain, and pituitary hypoplasia are the characteristic findings. Recurring seizures, del... | |
What are the symptoms of Septo-optic dysplasia ? | What are the signs and symptoms of Septo-optic dysplasia? Symptoms may include blindness in one or both eyes, pupil dilation in response to light, nystagmus (a rapid, involuntary to-and-fro movement of the eyes), inward and outward deviation of the eyes, hypotonia (low muscle tone), and hormonal problems leading to slo... | |
What causes Septo-optic dysplasia ? | What causes septo-optic dysplasia? In most cases of septo-optic dysplasia, the cause of the disorder is unknown. Researchers suspect that a combination of genetic and environmental factors may play a role in causing this disorder. Proposed environmental risk factors include viral infections, specific medications, and a... | |
Is Septo-optic dysplasia inherited ? | Is septo-optic dysplasia inherited? | |
What are the treatments for Septo-optic dysplasia ? | Can septo-optic dysplasia be cured? There is no cure for septo-optic dysplasia. Treatment is symptomatic. Hormone deficiencies may be treated with hormone replacement therapy. The optical problems are generally not treatable. Vision, physical, and occupational therapies may be required. | |
What are the symptoms of Spastic paraplegia 2 ? | What are the signs and symptoms of Spastic paraplegia 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dic... | |
What are the symptoms of T-cell lymphoma 1A ? | What are the signs and symptoms of T-cell lymphoma 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for T-cell lymphoma 1A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Diction... | |
What is (are) Choroideremia ? | Choroideremia is a genetic condition that causes vision loss. This disorder typically affects males. The first symptom is usually impairment of night vision (night blindness), which can occur in childhood. People with this disorder also experience narrowing of the field of vision (tunnel vision) and decrease in the abi... | |
What are the symptoms of Choroideremia ? | What are the signs and symptoms of Choroideremia? The Human Phenotype Ontology provides the following list of signs and symptoms for Choroideremia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to loo... | |
What are the symptoms of Pulmonic stenosis ? | What are the signs and symptoms of Pulmonic stenosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonic stenosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionar... | |
What are the symptoms of Short rib-polydactyly syndrome type 3 ? | What are the signs and symptoms of Short rib-polydactyly syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Short rib-polydactyly syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | |
What are the symptoms of Nevi flammei, familial multiple ? | What are the signs and symptoms of Nevi flammei, familial multiple? The Human Phenotype Ontology provides the following list of signs and symptoms for Nevi flammei, familial multiple. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... | |
What is (are) Autosomal dominant partial epilepsy with auditory features ? | Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a rare form of epilepsy, a condition that is characterized by recurrent seizures. In ADPEAF, specifically, most affected people experience secondary generalized seizures and partial seizures, some of which are associated with sound-related symptoms ... | |
What are the symptoms of Autosomal dominant partial epilepsy with auditory features ? | What are the signs and symptoms of Autosomal dominant partial epilepsy with auditory features? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant partial epilepsy with auditory features. If the information is available, the table below includes how often the symptom is... | |
What is (are) Rotor syndrome ? | Rotor syndrome is an inherited disorder characterized by elevated levels of bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down, and has an orange-yellow tint. The buildup of bilirubin in the body causes yellowing of the skin or whites of the eyes (jaundice), which is... | |
What are the symptoms of Rotor syndrome ? | What are the signs and symptoms of Rotor syndrome? Jaundice, characterized by yellowing of the skin and/or whites of the eyes (conjunctival icterus), is usually the only symptom of Rotor syndrome. Jaundice usually begins shortly after birth or in childhood and may come and go. The Human Phenotype Ontology provides the ... | |
What causes Rotor syndrome ? | What causes Rotor syndrome? Rotor syndrome is an inherited disorder caused by having mutations in both the SLCO1B1 and SLCO1B3 genes. These genes provide instructions for making proteins that are found in liver cells, where they transport bilirubin and other substances from the blood into the liver so that they can be ... | |
How to diagnose Rotor syndrome ? | How is Rotor syndrome diagnosed? Rotor syndrome is diagnosed based on symptoms and various laboratory tests. Physical exams in affected people are typically normal, except for mild jaundice. There are two forms of bilirubin in the body: a toxic form called unconjugated bilirubin and a nontoxic form called conjugated bi... | |
What are the treatments for Rotor syndrome ? | How might Rotor syndrome be treated? Rotor syndrome is considered a benign disorder and does not require treatment. While no adverse drug reactions have been reported in people with Rotor syndrome, a number of commonly used drugs and/or their metabolites may have serious consequences in affected people. This is because... | |
What are the symptoms of Microcephalic primordial dwarfism, Montreal type ? | What are the signs and symptoms of Microcephalic primordial dwarfism, Montreal type? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephalic primordial dwarfism, Montreal type. If the information is available, the table below includes how often the symptom is seen in people with... | |
What is (are) Antecubital pterygium ? | Antecubital pterygium is characterized by and antecubital webbing, posterior subluxation (dislocation) of radial head, maldevelopment of radioulnar joint, and limited elbow extension with unimpeded elbow flexion. Most reported cases come from the island of Mauritius or nearby islands. It is inherited in an autosomal do... | |
What are the symptoms of Antecubital pterygium ? | What are the signs and symptoms of Antecubital pterygium? The Human Phenotype Ontology provides the following list of signs and symptoms for Antecubital pterygium. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical D... | |
What are the symptoms of Pili torti onychodysplasia ? | What are the signs and symptoms of Pili torti onychodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili torti onychodysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus... | |
What is (are) Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation ? | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is a rare neurological disease characterized by slowly progressive cerebellar ataxia (lack of control of the movements) and spasticity with dorsal column dysfunction (decreased position and vibration sense) in most patients. Th... | |
What are the symptoms of Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation ? | What are the signs and symptoms of Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation ? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation . If the information is avai... | |
What are the symptoms of Spastic paraplegia 4 ? | What are the signs and symptoms of Spastic paraplegia 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dic... | |
What are the symptoms of Juberg Marsidi syndrome ? | What are the signs and symptoms of Juberg Marsidi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Juberg Marsidi syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medic... | |
What is (are) Medullary cystic kidney disease ? | Medullary cystic kidney disease (MCKD) is a chronic, progressive kidney disease characterized by the presence of small renal cysts that eventually lead to end stage renal failure. Symptoms typically appear at an average age of 28 years and may include polyuria (excessive production or passage of urine) and low urinary ... | |
What are the symptoms of Medullary cystic kidney disease ? | What are the signs and symptoms of Medullary cystic kidney disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Medullary cystic kidney disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... | |
What causes Medullary cystic kidney disease ? | What causes medullary cystic kidney disease? There are 2 types of MCKD, which are both inherited in an autosomal dominant manner but are caused by mutations in different genes. MCKD 1 is caused by mutations in the MCKD1 gene (which has not yet been identified) and MCKD 2 is caused by mutations in the UMOD gene. Exposur... | |
Is Medullary cystic kidney disease inherited ? | How is medullary cystic kidney disease inherited? The 2 types of MCKD are both inherited in an autosomal dominant manner. This means that any individual with the condition has a 50% chance of passing on the disease causing mutation to any of their children. | |
What are the symptoms of Familial dilated cardiomyopathy ? | What are the signs and symptoms of Familial dilated cardiomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial dilated cardiomyopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... | |
What are the symptoms of Whistling face syndrome, recessive form ? | What are the signs and symptoms of Whistling face syndrome, recessive form? The Human Phenotype Ontology provides the following list of signs and symptoms for Whistling face syndrome, recessive form. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | |
What is (are) Lyme disease ? | Lyme disease is the most common tickborne infectious disease in the United States. Early signs and symptoms of the condition include fever, chills, muscle pain, headache, and joint pain. As the condition progresses, affected people may experience heart problems, Bell's palsy, arthritis, abnormal muscle movement, speech... | |
What are the symptoms of Lyme disease ? | What are the signs and symptoms of Lyme disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Lyme disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look ... | |
What are the symptoms of Dengue fever ? | What are the signs and symptoms of Dengue fever? The Human Phenotype Ontology provides the following list of signs and symptoms for Dengue fever. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look ... | |
What is (are) Jones syndrome ? | Jones syndrome is a very rare condition characterized by gingival fibromatosis (enlargement and overgrowth of the gums) and progressive, sensorineural hearing loss. The onset of gingival fibromatosis usually occurs with the eruption of the permanent teeth. Excessive growth of the gums may cause displacement of teeth, o... | |
What are the symptoms of Jones syndrome ? | What are the signs and symptoms of Jones syndrome? Jones syndrome is primarily characterized by gingival fibromatosis (slowly progressive enlargement of the gums) and progressive, sensorineural hearing loss. Enlargement of the gingival tissue usually begins at the time the permanent teeth are erupting, although it may ... | |
What causes Jones syndrome ? | What causes Jones syndrome? The exact, underlying genetic cause of Jones syndrome is not yet known. | |
Is Jones syndrome inherited ? | How is Jones syndrome inherited? Jones syndrome is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs or symptoms of the condition. When a person with an autosomal dominant condition has children, each child has... | |
What are the treatments for Jones syndrome ? | How might Jones syndrome be treated? Due to the rarity of Jones syndrome, there are no treatment guidelines available in the medical literature. However, there is information about how the features associated with Jones syndrome might be treated. Treatment for gingival fibromatosis varies depending on the severity. Mai... | |
What is (are) Dystrophic epidermolysis bullosa ? | Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. The signs and symptoms can vary widely among affected people. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases often involve widespread blistering that can lead to vision loss, disfi... | |
What are the symptoms of Dystrophic epidermolysis bullosa ? | What are the signs and symptoms of Dystrophic epidermolysis bullosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystrophic epidermolysis bullosa. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | |
What are the symptoms of Homocarnosinosis ? | What are the signs and symptoms of Homocarnosinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Homocarnosinosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary ... | |
What are the symptoms of Split hand urinary anomalies spina bifida ? | What are the signs and symptoms of Split hand urinary anomalies spina bifida? The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand urinary anomalies spina bifida. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | |
What is (are) Bietti crystalline corneoretinal dystrophy ? | Bietti crystalline corneoretinal dystrophy is an inherited eye disease. Symptoms include crystals in the cornea (the clear covering of the eye); yellow, shiny deposits on the retina; and progressive atrophy of the retina, choriocapillaries and choroid (the back layers of the eye). This tends to lead to progressive nigh... | |
What are the symptoms of Bietti crystalline corneoretinal dystrophy ? | What are the signs and symptoms of Bietti crystalline corneoretinal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Bietti crystalline corneoretinal dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condit... | |
What is (are) Steatocystoma multiplex ? | Steatocystoma multiplex is a condition characterized by numerous skin cysts that tend to develop during puberty. Cysts most often develop on the chest, upper arms and face, but may develop all over the body in some cases. The cysts may become inflamed and cause scarring when they heal. The condition is thought to be ca... | |
What are the symptoms of Steatocystoma multiplex ? | What are the signs and symptoms of Steatocystoma multiplex? Signs and symptoms of steatocystoma multiplex include multiple cysts on the skin. The cysts are often 1 to 2 centimeter wide. They frequently occur on the trunk of the body, upper arms, legs, and face; however, they can develop on other parts of the body as we... | |
What causes Steatocystoma multiplex ? | What causes steatocystoma multiplex? Mutations in a gene called keratin 17 (KRT17) have been identified in some individuals with inherited steatocystoma multiplex. In these families the condition is inherited in an autosomal dominant fashion. In other cases the condition occurs sporadically. This may mean that it is du... | |
What are the treatments for Steatocystoma multiplex ? | How might steatocystoma multiplex be treated? Treatment options for steatocystoma multiplex are limited and have had varying degrees of success. The most effective treatment method is thought to be removal of cysts by surgery. However, cosmetic concerns, time, cost, and pain need to be considered because affected indi... | |
What are the symptoms of Ceroid lipofuscinosis neuronal 1 ? | What are the signs and symptoms of Ceroid lipofuscinosis neuronal 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Ceroid lipofuscinosis neuronal 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | |
What are the symptoms of Neuropathy, hereditary motor and sensory, Okinawa type ? | What are the signs and symptoms of Neuropathy, hereditary motor and sensory, Okinawa type? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuropathy, hereditary motor and sensory, Okinawa type. If the information is available, the table below includes how often the symptom is seen in... | |
What are the symptoms of Acrocephalopolydactylous dysplasia ? | What are the signs and symptoms of Acrocephalopolydactylous dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrocephalopolydactylous dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | |
What are the symptoms of Renal hamartomas nephroblastomatosis and fetal gigantism ? | What are the signs and symptoms of Renal hamartomas nephroblastomatosis and fetal gigantism? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal hamartomas nephroblastomatosis and fetal gigantism. If the information is available, the table below includes how often the symptom is see... | |
What is (are) Glanzmann thrombasthenia ? | Glanzmann thrombasthenia (GT) is a rare inherited blood clotting disorder that is present at birth. It is characterized by the impaired function of specialized blood cells, called platelets, that are essential for proper blood clotting. Signs and symptoms vary greatly from person to person. Symptoms usually include abn... | |
What are the symptoms of Glanzmann thrombasthenia ? | What are the signs and symptoms of Glanzmann thrombasthenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Glanzmann thrombasthenia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Med... |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.