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Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lattice corneal dystrophy type 3A ? ### Response: Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lattice corneal dystrophy type 3A ? ### Response: What are the signs and symptoms of Lattice corneal dystrophy type 3A? The Human Phenotype Ontology provides the following list of signs and symptoms for Lattice corneal dystrophy type 3A. 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 T-cell lymphoma 1A ? ### Response: 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.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Steatocystoma multiplex with natal teeth ? ### Response: What are the signs and symptoms of Steatocystoma multiplex with natal teeth? The Human Phenotype Ontology provides the following list of signs and symptoms for Steatocystoma multiplex with natal teeth. 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) MECP2 duplication syndrome ? ### Response: MECP2 duplication syndrome is a genetic condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Other signs and symptoms include infantile hypotonia; delayed motor milestones (i.e. sitting up, crawling); recurrent infections; poor or absent speech; seizures; and/or spasticity.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of MECP2 duplication syndrome ? ### Response: What are the signs and symptoms of MECP2 duplication syndrome? MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Infants affected by this condition are generally diagnosed with severe hypotonia within the first few weeks of life.

Below is an instruction from Human. Write a response. ### Instruction: What causes MECP2 duplication syndrome ? ### Response: What causes MECP2 duplication syndrome? MECP2 duplication syndrome occurs when there is an extra copy (duplication) of the MECP2 gene in each cell. This is generally caused by a duplication of genetic material located on the long (q) arm of the X chromosome.

Below is an instruction from Human. Write a response. ### Instruction: Is MECP2 duplication syndrome inherited ? ### Response: Is MECP2 duplication syndrome inherited? MECP2 duplication syndrome is inherited in an X-linked manner. A condition is considered X-linked if the genetic change that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome).

Below is an instruction from Human. Write a response. ### Instruction: Is MECP2 duplication syndrome inherited ? ### Response: Is MECP2 duplication syndrome inherited? MECP2 duplication syndrome is inherited in an X-linked manner. A condition is considered X-linked if the genetic change that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome).

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for MECP2 duplication syndrome ? ### Response: How might MECP2 duplication syndrome be treated? Because MECP2 duplication syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Alopecia macular degeneration growth retardation ? ### Response: What are the signs and symptoms of Alopecia macular degeneration growth retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia macular degeneration growth retardation. 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 Alopecia, epilepsy, pyorrhea, mental subnormality ? ### Response: What are the signs and symptoms of Alopecia, epilepsy, pyorrhea, mental subnormality? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia, epilepsy, pyorrhea, mental subnormality. 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 Mosaic trisomy 14 ? ### Response: What are the signs and symptoms of Mosaic trisomy 14? The effects of mosaic trisomy 14 can vary considerably among affected individuals. Some children with mosaic trisomy 14 grow into healthy, if small, children. Others may have continued difficulty thriving.

Below is an instruction from Human. Write a response. ### Instruction: What causes Mosaic trisomy 14 ? ### Response: What causes mosaic trisomy 14? Individuals with mosaic trisomy 14 have a duplication of chromosome 14 material in some of their cells, while other cells have a normal chromosomal makeup. The additional chromosomal material is responsible for the features that are characteristic of the condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Mosaic trisomy 14 ? ### Response: How might mosaic trisomy 14 be treated? Treatment for signs and symptoms of mosaic trisomy 14 focuses on the specific features present in each individual. Infants with congenital heart defects may need surgery or other therapies to alleviate symptoms and correct heart malformations.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Quinquaud's decalvans folliculitis ? ### Response: What are the signs and symptoms of Quinquaud's decalvans folliculitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Quinquaud's decalvans folliculitis. 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) Mulibrey Nanism ? ### Response: Mulibrey nanism is a rare genetic disorder characterized by profound growth delays and distinctive abnormalities of the muscles, liver, brain, and eyes. The acronym MULIBREY stands for (MU)scle, (LI)ver, (BR)ain, and (EY)e; nanism is another word for dwarfism.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mulibrey Nanism ? ### Response: What are the signs and symptoms of Mulibrey Nanism? Mulibrey nanism (MN) is characterized by progressive growth failure that begins prenatally (before birth). Hypotonia (poor muscle tone) is common. Newborns often have characteristic abnormalities of the head and face, including a triangularly shaped face.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Mulibrey Nanism ? ### Response: Is genetic testing available for mulibrey nanism? Testing for the TRIM37 gene is available for carrier testing, confirming the diagnosis, and prenatal diagnosis. GeneTests lists the names of laboratories that are performing genetic testing for mulibrey nanism.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Spondylocostal dysostosis 4 ? ### Response: Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis).

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spondylocostal dysostosis 4 ? ### Response: What are the signs and symptoms of Spondylocostal dysostosis 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocostal dysostosis 4. 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) Leprechaunism ? ### Response: Leprechaunism is a congenital (present from birth) condition characterized by extreme insulin resistance, pre- and postnatal growth delays, characteristic facial features, skin abnormalities, muscular hypotrophy (reduced muscle mass) and enlarged external genitalia in both males and females.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Leprechaunism ? ### Response: What are the signs and symptoms of Leprechaunism? The Human Phenotype Ontology provides the following list of signs and symptoms for Leprechaunism. 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 Kallmann syndrome 5 ? ### Response: What are the signs and symptoms of Kallmann syndrome 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Kallmann syndrome 5. 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) Juvenile Huntington disease ? ### Response: Juvenile Huntington disease (HD) is a less common, early-onset form of Huntington disease that begins in childhood or adolescence. It is also a progressive disorder that causes the breakdown of brain cells in certain areas of the brain. This results in uncontrolled movements, loss of intellectual abilities, and emotional disturbances.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Juvenile Huntington disease ? ### Response: What are the signs and symptoms of Juvenile Huntington disease? A common sign of juvenile HD is a rapid decline in school performance. Symptoms can also include subtle changes in handwriting and slight problems with movement, such as slowness, rigidity, tremor, and rapid muscular twitching, called myoclonus.

Below is an instruction from Human. Write a response. ### Instruction: What causes Juvenile Huntington disease ? ### Response: What causes Juvenile Huntington disease (HD)? Mutations in the HTT gene cause Huntington disease. The HTT gene provides instructions for making a protein called huntingtin. Although the function of this protein is unknown, it appears to play an important role in nerve cells (neurons) in the brain.

Below is an instruction from Human. Write a response. ### Instruction: Is Juvenile Huntington disease inherited ? ### Response: How is Juvenile Huntington disease (HD) inherited? Juvenile HD is inherited in an autosomal dominant manner, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Juvenile Huntington disease ? ### Response: How is Juvenile Huntington disease (HD) diagnosed? The diagnosis is usually made by experienced neurologists. A neurologist will often first obtain the persons medical history asking about recent intellectual or emotional problems, which may be indications of HD.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Juvenile Huntington disease ? ### Response: How might Juvenile Huntington disease (HD) be treated? Physicians may prescribe a number of medications to help control emotional and movement problems associated with HD. It is important to remember however, that while medicines may help keep these clinical symptoms under control, there is no treatment to stop or reverse the course of the disease.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hereditary congenital facial paresis ? ### Response: What are the signs and symptoms of Hereditary congenital facial paresis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary congenital facial paresis. 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) Borjeson-Forssman-Lehmann syndrome ? ### Response: Borjeson-Forssman-Lehmann syndrome (BFLS) is a genetic condition characterized by intellectual disability, obesity, seizures, hypogonadism, developmental delay and distinctive facial features. These symptoms are variable, even among members of the same family.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Borjeson-Forssman-Lehmann syndrome ? ### Response: What are the signs and symptoms of Borjeson-Forssman-Lehmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Borjeson-Forssman-Lehmann 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) Singleton Merten syndrome ? ### Response: Singleton Merten syndrome is an extremely rare, multisystem disorder. The major characteristics are tooth abnormalities (dental dysplasia); calcifications in the aorta and certain valves of the heart (i.e., aortic and mitral valves); and progressive thinning and loss of protein of the bones (osteoporosis), especially the upper and back portions of the skull.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Singleton Merten syndrome ? ### Response: What are the signs and symptoms of Singleton Merten syndrome? Singleton Merten syndrome is characterized by abnormalities of the teeth (dental dysplasia); abnormal accumulation of calcium deposits (calcifications) in the aorta and certain valves of the heart (i.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Singleton Merten syndrome ? ### Response: How is Singleton Merten syndrome diagnosed? The diagnosis of Singleton Merten syndrome may be suspected during infancy based upon the identification of characteristic physical findings (i.e., muscle weakness, muscle atrophy, dental abnormalities, and skeletal changes).

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Familial hyperinsulinism ? ### Response: Familial hyperinsulinism is an inherited condition that causes individuals to have abnormally high levels of insulin, which leads to frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, and/or difficulty feeding.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial hyperinsulinism ? ### Response: What are the signs and symptoms of Familial hyperinsulinism? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hyperinsulinism. 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) Loin pain hematuria syndrome ? ### Response: Loin pain hematuria syndrome (LPHS) is a condition that is characterized by persistent or recurrent loin pain and hematuria (blood in the urine). Other signs and symptoms include nausea and vomiting; a low-grade fever (up to 101F); and/or dysuria during episodes of pain.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Loin pain hematuria syndrome ? ### Response: What are the signs and symptoms of loin pain hematuria syndrome? As the name of the condition suggests, loin pain hematuria syndrome (LPHS) is characterized primarily by recurrent or persistent loin pain and/or hematuria (blood in the urine). The loin pain is sometimes described as burning or throbbing and may worsen with exercise or when lying in a supine (face upward) position.

Below is an instruction from Human. Write a response. ### Instruction: What causes Loin pain hematuria syndrome ? ### Response: What causes loin pain hematuria syndrome? The exact underlying cause of loin pain hematuria syndrome (LPHS) is currently unknown. However, scientists have proposed several theories. For example, some cases of LPHS may be due to abnormal glomerular basement membranes, which are the tissues in the kidney that filter blood.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Loin pain hematuria syndrome ? ### Response: How is loin pain hematuria syndrome diagnosed? A diagnosis of loin pain hematuria syndrome is suspected based on the presence of characteristic signs and symptoms, after other conditions that cause similar features have been excluded. Severe hematuria (blood in urine) may be obvious; however, a urinalysis can be performed to detect microscopic levels of hematuria.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Loin pain hematuria syndrome ? ### Response: How might loin pain hematuria syndrome be treated? Treatment of loin pain hematuria syndrome (LPHS) typically consists of pain management. Narcotics or oral opioids may be prescribed to help control pain. Patients with severe pain may need high-dose opioids daily and may occasionally require hospitalization for intravenous pain relievers and control of nausea.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Natal teeth, intestinal pseudoobstruction and patent ductus ? ### Response: What are the signs and symptoms of Natal teeth, intestinal pseudoobstruction and patent ductus? The Human Phenotype Ontology provides the following list of signs and symptoms for Natal teeth, intestinal pseudoobstruction and patent ductus. 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) Polydactyly ? ### Response: Polydactyly is a condition in which a person has more than five fingers per hand or five toes per foot. It is the most common birth defect of the hand and foot. Polydactyly can occur as an isolated finding such that the person has no other physical anomalies or intellectual impairment.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial visceral myopathy with external ophthalmoplegia ? ### Response: What are the signs and symptoms of Familial visceral myopathy with external ophthalmoplegia? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial visceral myopathy with external ophthalmoplegia. 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 Pseudopelade of Brocq ? ### Response: What are the signs and symptoms of Pseudopelade of Brocq? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudopelade of Brocq. 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 Pseudopelade of Brocq ? ### Response: Is there treatment or a cure for pseudopelade of Brocq? Neither an effective treatment nor cure has been identified for pseudopelade of Brocq. Unfortunately, even when treatment relieves the symptoms and signs, the progression of hair loss may continue. The choice of treatment prescribed varies from person to person and depends mainly on the activity, extent of the disease and patient's tolerance to the treatment.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Desmoplastic small round cell tumor ? ### Response: Desmoplastic small round cell tumors (DSRCT), a rare malignant cancer, is a soft tissue sarcoma that usually affects young boys and men and is found most often in the abdomen. Its name means that it is formed by small, round cancer cells surrounded by scarlike tissue.