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Below is an instruction from Human. Write a response. ### Instruction: What is (are) Acute alcohol sensitivity ? ### Response: Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Acute alcohol sensitivity ? ### Response: What are the signs and symptoms of Acute alcohol sensitivity ? The Human Phenotype Ontology provides the following list of signs and symptoms for Acute alcohol sensitivity . If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Retinitis pigmentosa, deafness, mental retardation, and hypogonadism ? ### Response: What are the signs and symptoms of Retinitis pigmentosa, deafness, mental retardation, and hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinitis pigmentosa, deafness, mental retardation, and hypogonadism.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Charcot-Marie-Tooth disease ? ### Response: What are the signs and symptoms of Charcot-Marie-Tooth disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) De Barsy syndrome ? ### Response: De Barsy syndrome is a rare genetic disorder characterized mainly by a prematurely aged-looking face (progeria); cloudy corneas; short stature; and intellectual disability. Affected individuals can have a wide variety of other signs and symptoms, including loose skin folds due to reduced elasticity (cutis laxa); poor muscle tone (hypotonia); movement disorders; and other features that involve the eyes, face, skin and nervous system.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of De Barsy syndrome ? ### Response: What are the signs and symptoms of De Barsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for De Barsy syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sclerosing mucoepidermoid carcinoma with eosinophilia ? ### Response: Sclerosing mucoepidermoid carcinoma with eosinophilia (SMECE) is a type of cancer that most commonly affects the thyroid gland, but has been reported in the salivary gland as well. Signs and symptoms include a painless neck mass. Many people with mucoepidermoid carcinomas are women with Hashimoto's thyroiditis.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Midphalangeal hair ? ### Response: What are the signs and symptoms of Midphalangeal hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Midphalangeal hair. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cleft palate X-linked ? ### Response: What are the signs and symptoms of Cleft palate X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft palate X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mucolipidosis III alpha/beta ? ### Response: What are the signs and symptoms of Mucolipidosis III alpha/beta? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucolipidosis III alpha/beta. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Multicentric osteolysis nephropathy ? ### Response: What are the signs and symptoms of Multicentric osteolysis nephropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Multicentric osteolysis nephropathy. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Brachydactyly type A2 ? ### Response: What are the signs and symptoms of Brachydactyly type A2? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A2. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Jervell Lange-Nielsen syndrome ? ### Response: Jervell Lange-Nielsen syndrome is a form of long QT syndrome. Symptoms include deafness from birth, arrhythmia, fainting, and sudden death. There are two different types, Jervell Lange-Nielsen syndrome type 1 and 2. It is inherited in an autosomal recessive fashion.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Jervell Lange-Nielsen syndrome ? ### Response: What are the signs and symptoms of Jervell Lange-Nielsen syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Jervell Lange-Nielsen syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Centronuclear myopathy ? ### Response: Centronuclear myopathy refers to a group of rare, inherited conditions that affect the muscles. There are three main forms of the condition that are differentiated by their pattern of inheritance: X-linked Myotubular Myopathy Autosomal Dominant Centronuclear Myopathy Autosomal Recessive Centronuclear Myopathy The cause of the condition and the associated signs and symptoms vary by subtype.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Centronuclear myopathy ? ### Response: What are the signs and symptoms of Centronuclear myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Centronuclear myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Banki syndrome ? ### Response: What are the signs and symptoms of Banki syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Banki syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Limb deficiencies distal with micrognathia ? ### Response: What are the signs and symptoms of Limb deficiencies distal with micrognathia? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb deficiencies distal with micrognathia. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of X-linked lissencephaly with abnormal genitalia ? ### Response: What are the signs and symptoms of X-linked lissencephaly with abnormal genitalia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked lissencephaly with abnormal genitalia. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Marfan syndrome ? ### Response: Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta).

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Marfan syndrome ? ### Response: What are the signs and symptoms of Marfan syndrome? The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression. Affected individuals often are tall and lean, have elongated fingers and toes (arachnodactyly), and have an arm span that exceeds body height.

Below is an instruction from Human. Write a response. ### Instruction: Is Marfan syndrome inherited ? ### Response: How is Marfan syndrome inherited? Marfan syndrome is inherited in an autosomal dominant manner. All individuals inherit 2 copies of each gene. In autosomal dominant conditions, an individual only has to have 1 mutation in the gene to develop the condition. The mutation can be inherited from a parent, or can happen by chance for the first time in an individual.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Paris-Trousseau thrombocytopenia ? ### Response: What are the signs and symptoms of Paris-Trousseau thrombocytopenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Paris-Trousseau thrombocytopenia. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mental retardation-hypotonic facies syndrome X-linked, 1 ? ### Response: What are the signs and symptoms of Mental retardation-hypotonic facies syndrome X-linked, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation-hypotonic facies syndrome X-linked, 1. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of MORM syndrome ? ### Response: What are the signs and symptoms of MORM syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for MORM syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Aplasia cutis congenita intestinal lymphangiectasia ? ### Response: What are the signs and symptoms of Aplasia cutis congenita intestinal lymphangiectasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Aplasia cutis congenita intestinal lymphangiectasia. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pseudodiastrophic dysplasia ? ### Response: What are the signs and symptoms of Pseudodiastrophic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudodiastrophic dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Reardon Wilson Cavanagh syndrome ? ### Response: What are the signs and symptoms of Reardon Wilson Cavanagh syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Reardon Wilson Cavanagh syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Patterned dystrophy of retinal pigment epithelium ? ### Response: What are the signs and symptoms of Patterned dystrophy of retinal pigment epithelium? The Human Phenotype Ontology provides the following list of signs and symptoms for Patterned dystrophy of retinal pigment epithelium. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Jensen syndrome ? ### Response: What are the signs and symptoms of Jensen syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Jensen syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Postural orthostatic tachycardia syndrome ? ### Response: Postural orthostatic tachycardia syndrome (POTS) is a rare condition that is primarily characterized by orthostatic intolerance (an excessively reduced volume of blood returns to the heart when moving from a lying down to a standing position). Orthostatic Intolerance is generally associated with lightheadedness and/or fainting that is typically relieved by lying down again.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Postural orthostatic tachycardia syndrome ? ### Response: What are the signs and symptoms of postural orthostatic tachycardia syndrome? Postural orthostatic tachycardia syndrome (POTS) is primarily characterized by orthostatic intolerance (an excessively reduced volume of blood returns to the heart when moving from a lying down to a standing position).

Below is an instruction from Human. Write a response. ### Instruction: What causes Postural orthostatic tachycardia syndrome ? ### Response: What causes postural orthostatic tachycardia syndrome? The underlying cause of postural orthostatic tachycardia syndrome (POTS) is poorly understood. However, episodes often begin after a pregnancy, major surgery, trauma, or a viral illness and may increase right before a menstrual period.

Below is an instruction from Human. Write a response. ### Instruction: Is Postural orthostatic tachycardia syndrome inherited ? ### Response: Is postural orthostatic tachycardia syndrome inherited? Most cases of postural orthostatic tachycardia syndrome (POTS) are not thought to be inherited. Although the condition generally occurs sporadically, some people with POTS do report a family history of orthostatic intolerance (an excessively reduced volume of blood returns to the heart when moving from a lying down to a standing position).

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Postural orthostatic tachycardia syndrome ? ### Response: How is postural orthostatic tachycardia syndrome diagnosed? A diagnosis of postural orthostatic tachycardia syndrome (POTS) is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Postural orthostatic tachycardia syndrome ? ### Response: How is postural orthostatic tachycardia syndrome treated? Because postural orthostatic tachycardia syndrome (POTS) is thought to have a variety of causes, there is no single treatment that is effective for all people with the condition. In general, management of POTS aims to relieve low blood volume and/or regulate circulatory problems that could be causing the condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) 2-methyl-3-hydroxybutyric aciduria ? ### Response: 2-methyl-3-hydroxybutyric aciduria is an inherited disorder in which the body cannot effectively process the amino acid isoleucine. Signs and symptoms of this condition usually develop in infancy or early childhood and include metabolic acidosis, hypoglycemia, hypotonia, seizures, movement problems, retinal degeneration, and hearing loss.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 2-methyl-3-hydroxybutyric aciduria ? ### Response: What are the signs and symptoms of 2-methyl-3-hydroxybutyric aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for 2-methyl-3-hydroxybutyric aciduria. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Otofaciocervical syndrome ? ### Response: What are the signs and symptoms of Otofaciocervical syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Otofaciocervical syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Syngnathia multiple anomalies ? ### Response: What are the signs and symptoms of Syngnathia multiple anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Syngnathia multiple anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fournier gangrene ? ### Response: Fournier gangrene refers to the death of body tissue of the genitals and/or perineum. Signs and symptoms of the condition include genital pain, tenderness, redness, and swelling with a rapid progression to gangrene. Although the condition can affect men and women of all ages, it is most commonly diagnosed in adult males.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cerebral gigantism jaw cysts ? ### Response: What are the signs and symptoms of Cerebral gigantism jaw cysts? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral gigantism jaw cysts. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chromosome 7p deletion ? ### Response: Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Haim-Munk syndrome ? ### Response: What are the signs and symptoms of Haim-Munk syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Haim-Munk syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Opsismodysplasia ? ### Response: Opsismodysplasia is a rare skeletal dysplasia characterized by congenital short stature and characteristic craniofacial abnormalities. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel (the space between the front bones of the skull), and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Opsismodysplasia ? ### Response: What are the signs and symptoms of Opsismodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Opsismodysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Keratoconus posticus circumscriptus ? ### Response: What are the signs and symptoms of Keratoconus posticus circumscriptus? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratoconus posticus circumscriptus. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Limb-girdle muscular dystrophy ? ### Response: Limb-girdle muscular dystrophy is a group of disorders which affect the voluntary muscles around the hips and shoulders. The conditions are progressive, leading to a loss of muscle strength and bulk over a number of years. Onset may occur in childhood, adolescence, young adulthood, or even later.

Below is an instruction from Human. Write a response. ### Instruction: Is Limb-girdle muscular dystrophy inherited ? ### Response: How is limb-girdle muscular dystrophy inherited? Limb-girdle muscular dystrophy (LGMD) is most often inherited in an autosomal recessive manner; less commonly, rare sub-types may be inherited in an autosomal dominant manner. There may be difficulties diagnosing the condition accurately, and often the mode of inheritance cannot be determined.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Limb-girdle muscular dystrophy ? ### Response: How might limb-girdle muscular dystrophy be treated? Unfortunately, no definitive treatments or effective medications for the limb-girdle muscular dystrophies (LGMDs) currently exist. Management depends on each individual and the specific type of LGMD that the individual has.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Limited cutaneous systemic sclerosis ? ### Response: Limited cutaneous systemic sclerosis is a subtype of systemic sclerosis characterized by the association of Raynaud's phenomenon and skin fibrosis on the hands, face, feet and forearms. The exact cause of limited cutaneous systemic sclerosis is unknown, but likely originates from an autoimmune reaction which leads to overproduction of collagen.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Limited cutaneous systemic sclerosis ? ### Response: What are the signs and symptoms of Limited cutaneous systemic sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Limited cutaneous systemic sclerosis. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Limited cutaneous systemic sclerosis ? ### Response: How might CREST syndrome be treated? Unfortunately, CREST syndrome has no known cure. The condition carries both physical and psychological consequences, so a holistic approach to management should be taken. Treatment generally focuses on relieving signs and symptoms and preventing complications.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Frontometaphyseal dysplasia ? ### Response: What are the signs and symptoms of Frontometaphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontometaphyseal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Frontometaphyseal dysplasia ? ### Response: What are the signs and symptoms of Frontometaphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontometaphyseal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Coccygodynia ? ### Response: What signs and symptoms are associated with coccygodynia? The classic symptom is pain when pressure is applied to the tailbone, such as when sitting on a hard chair. Symptoms usually improve with relief of pressure when standing or walking . Other symptoms

Below is an instruction from Human. Write a response. ### Instruction: What causes Coccygodynia ? ### Response: What causes coccygodynia? A number of different causes have been associated with coccygodynia. However, the most common cause is a direct fall and injury to the area of the sacrum and coccyx. These types of injuries can occur from various activities, examples include a kick, an injury on a trampoline when one hits the bar or springs that surround the trampoline jumping pad, or from falling from a horse or skis.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Coccygodynia ? ### Response: What treatment is available for coccygodynia? Treatment for coccygodynia generally falls into conservative management or surgical intervention categories. The conservative approach typically includes hot sitz baths, NSAIDs, stool softeners, and/or the use of a donut-shaped pillow or gel cushion to descrease pressure and irritation of the coccyx.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Axenfeld-Rieger syndrome type 2 ? ### Response: What are the signs and symptoms of Axenfeld-Rieger syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Axenfeld-Rieger syndrome type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Glomerulonephritis with sparse hair and telangiectases ? ### Response: What are the signs and symptoms of Glomerulonephritis with sparse hair and telangiectases? The Human Phenotype Ontology provides the following list of signs and symptoms for Glomerulonephritis with sparse hair and telangiectases. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 18 Hydroxylase deficiency ? ### Response: What are the signs and symptoms of 18 Hydroxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 18 Hydroxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Juvenile myelomonocytic leukemia ? ### Response: What are the signs and symptoms of Juvenile myelomonocytic leukemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile myelomonocytic leukemia. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Smith McCort dysplasia ? ### Response: What are the signs and symptoms of Smith McCort dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Smith McCort dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Epilepsy occipital calcifications ? ### Response: What are the signs and symptoms of Epilepsy occipital calcifications? The Human Phenotype Ontology provides the following list of signs and symptoms for Epilepsy occipital calcifications. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Epidermolysis bullosa simplex, generalized ? ### Response: Epidermolysis bullosa simplex, generalized is a form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and blister easily. This disorder usually presents at birth or during infancy and results in widespread blisters over the body's surface.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Epidermolysis bullosa simplex, generalized ? ### Response: What are the signs and symptoms of Epidermolysis bullosa simplex, generalized? Epidermolysis bullosa simplex, generalized is associated with widespread blisters that appear at birth or in early infancy. While not a common feature of this type of epidermolysis bullosa, scarring may occasionally occur.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Epidermolysis bullosa simplex, generalized ? ### Response: How might epidermolysis bullosa simplex be treated? There is no cure for epidermolysis bullosa simplex and there is no known treatment proven to completely control all of the symptoms. However, many complications can be lessened or avoided through early intervention.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Short stature syndrome, Brussels type ? ### Response: What are the signs and symptoms of Short stature syndrome, Brussels type? The Human Phenotype Ontology provides the following list of signs and symptoms for Short stature syndrome, Brussels type. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Faciocardiorenal syndrome ? ### Response: What are the signs and symptoms of Faciocardiorenal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Faciocardiorenal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Scalp defects postaxial polydactyly ? ### Response: What are the signs and symptoms of Scalp defects postaxial polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Scalp defects postaxial polydactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Axial osteomalacia ? ### Response: What are the signs and symptoms of Axial osteomalacia? The Human Phenotype Ontology provides the following list of signs and symptoms for Axial osteomalacia. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Satoyoshi syndrome ? ### Response: Satoyoshi syndrome is a rare condition characterized by progressive, painful, intermittent muscle spasms, diarrhea or unusual malabsorption, amenorrhea, alopecia universalis, short stature, and skeletal abnormalities. Progressive painful intermittent muscle spasms usually start between 6 to 15 years of age.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Satoyoshi syndrome ? ### Response: What are the signs and symptoms of Satoyoshi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Satoyoshi syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Satoyoshi syndrome ? ### Response: What are the signs and symptoms of Satoyoshi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Satoyoshi syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Fowler's syndrome ? ### Response: What are the signs and symptoms of Fowler's syndrome? Fowlers syndrome typically occurs in premenopausal women (often in women under 30 years of age) who are unable to void for a day or more with no feeling of urinary urgency, but with increasing lower abdominal discomfort.

Below is an instruction from Human. Write a response. ### Instruction: What causes Fowler's syndrome ? ### Response: What causes Fowlers syndrome? The cause of Fowler's syndrome is not known. The association of Fowlers syndrome and polycystic ovaries in some patients raises the possibility that the syndrome is linked in some way to impaired muscle membrane stability, owing possibly to a hormonal abnormality.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Fowler's syndrome ? ### Response: How is Fowlers syndrome diagnosed? Diagnosis of Fowlers syndrome involves ruling out neurological or laboratory features that would support a diagnosis of a underlying neurological disease, and identification of a bladder capacity of over 1 liter with no sensation of urgency.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Fowler's syndrome ? ### Response: How might Fowlers syndrome be treated? The urinary incontinence caused by Fowlers syndrome may be treated by sacral neuromodulation therapy. The success rate for treatment of Fowlers syndrome with neuromodulation has been estimated to be around 70%, even in women who have been experiencing symptoms for a while.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Nestor-guillermo progeria syndrome ? ### Response: What are the signs and symptoms of Nestor-guillermo progeria syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nestor-guillermo progeria syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Myotonia congenita autosomal dominant ? ### Response: Myotonia congenita is a genetic condition characterized by the inability of the skeletal muscles to quickly relax after a voluntary movement. The symptoms associated with the condition typically appear in childhood and vary from person to person. There are two forms of the disorder: Becker type, which is the most common form; and Thomsen disease, which is a rare and milder form.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Myotonia congenita autosomal dominant ? ### Response: What are the signs and symptoms of Myotonia congenita autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Myotonia congenita autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pontocerebellar hypoplasia type 1 ? ### Response: Pontocerebellar hypoplasia type 1 (PCH1) is a genetic condition that affects the development of the brain. Individuals with this condition have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. A region of the brain called the pons also fails to develop properly.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pontocerebellar hypoplasia type 1 ? ### Response: What are the signs and symptoms of Pontocerebellar hypoplasia type 1? Pontocerebellar hypoplasia type 1 (PCH1) may first present in the prenatal period with reduced fetal movement. Polyhydramnios may also be noted. In most cases, the condition is obvious in the newborn period when respiratory insufficiency and muscle weakness present.

Below is an instruction from Human. Write a response. ### Instruction: What causes Pontocerebellar hypoplasia type 1 ? ### Response: What causes pontocerebellar hypoplasia type 1? A specific mutations in the VRK1 gene has caused PCH1 in at least one family. Specific mutations in RARS2 and TSEN54 have also been associated with PCH1. TSEN54 mutations were identified in one case from a family with three siblings with PCH1; DNA was only available in one of the three siblings.

Below is an instruction from Human. Write a response. ### Instruction: Is Pontocerebellar hypoplasia type 1 inherited ? ### Response: How is pontocerebellar hypoplasia type 1 inherited? Pontocerebellar hypoplasia type 1 (PCH1) is inherited in an autosomal recessive pattern, which means both copies of the associated gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Below is an instruction from Human. Write a response. ### Instruction: Is Pontocerebellar hypoplasia type 1 inherited ? ### Response: How is pontocerebellar hypoplasia type 1 inherited? Pontocerebellar hypoplasia type 1 (PCH1) is inherited in an autosomal recessive pattern, which means both copies of the associated gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Trichorhinophalangeal syndrome type 3 ? ### Response: What are the signs and symptoms of Trichorhinophalangeal syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichorhinophalangeal syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Syndrome of inappropriate antidiuretic hormone ? ### Response: What are the signs and symptoms of Syndrome of inappropriate antidiuretic hormone? Symptoms of syndrome of inappropriate antidiuretic hormone include water retention and low sodium level. Low sodium levels may cause lethargy and confusion. Severe low levels of sodium in the body may cause muscle twitching, seizures, stupor, coma, and death.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Syndrome of inappropriate antidiuretic hormone ? ### Response: How might the syndrome of inappropriate antidiuretic hormone be treated? Treatment of syndrome of inappropriate antidiuretic hormone (SIADH) may involve fluid restriction, treatment of the underlying cause once determined, and medication that decreases the effect of antidiuretic hormone on the kidneys.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Intrahepatic cholangiocarcinoma ? ### Response: Intrahepatic cholangiocarcinoma is a cancer that develops in the cells within the bile ducts; both inside and outside the liver. The terms cholangiocarinoma and bile duct cancer are often used to refer to the same condition. This condition occurs slightly more often in males than females and usually affects people who are between 50-70 years old.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Intrahepatic cholangiocarcinoma ? ### Response: How might intrahepatic cholangiocarcinoma be treated? Can it be cured? Surgery to completely remove the bile duct and tumor is the only option that can possibly lead to a cure for patients. The type of operation will depend on the size and location of the cancer.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Neuronal ceroid lipofuscinosis 9 ? ### Response: What are the signs and symptoms of Neuronal ceroid lipofuscinosis 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuronal ceroid lipofuscinosis 9. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Williams syndrome ? ### Response: Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Williams syndrome ? ### Response: What are the signs and symptoms of Williams syndrome? The signs and symptoms of Williams syndrome can be variable, but the disorder is generally characterized by mild to moderate intellectual disability a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety.

Below is an instruction from Human. Write a response. ### Instruction: What causes Williams syndrome ? ### Response: What causes Williams syndrome? Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7. The deleted region includes more than 25 genes, and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder.

Below is an instruction from Human. Write a response. ### Instruction: What causes Williams syndrome ? ### Response: What causes Williams syndrome? Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7. The deleted region includes more than 25 genes, and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Multiple pterygium syndrome Escobar type ? ### Response: Multiple pterygium syndrome, Escobar type is characterized by webbing of the neck, elbows, and/or knees, and joint contractures. Symptoms of Escobar syndrome are present from birth. It can be caused by mutations in the CHRNG gene. It tends to be inherited in an autosomal recessive fashion.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Multiple pterygium syndrome Escobar type ? ### Response: What are the signs and symptoms of Multiple pterygium syndrome Escobar type? Symptoms of multiple pterygium syndrome, Escobar type vary but may include short stature, vertebral (spine) defects, joint contractures, and webbing of the neck, armpit, elbow, knee, between the legs, and of the fingers and toes.

Below is an instruction from Human. Write a response. ### Instruction: What causes Multiple pterygium syndrome Escobar type ? ### Response: What causes multiple pterygium syndrome, Escobar type? Some cases of multiple pterygium syndrome, Escobar type are caused by mutations in the CHRNG gene. There are likely other causes of this syndrome as well which have not yet been identified. As a result, in some cases the cause for the syndrome can not be determined.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Multiple pterygium syndrome Escobar type ? ### Response: How is multiple pterygium syndrome, Escobar type diagnosed? Multiple pterygium syndrome, Escobar type is diagnosed based on signs and symptoms in the patient. This syndrome should be considered in patients with webs across different body joints, particularly if additional signs and symptoms are present (e.