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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 whic...
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 Latti...
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 informat...
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 symp...
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 sy...
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...
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 ...
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 ...
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 ...
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 provid...
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 o...
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...
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 ...
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. ...
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 con...
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 Qui...
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 (M...
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 m...
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 nam...
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 fuse...
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 dy...
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 abnormalitie...
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 availabl...
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 infor...
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 cause...
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 sub...
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. Alth...
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 suffi...
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 histo...
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 associate...
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...
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 dist...
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 Bor...
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 certa...
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 ac...
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...
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 (hypogly...
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 hyperinsulinis...
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 inc...
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 primar...
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 theo...
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 ot...
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 opi...
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 provide...
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 is...
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 ...
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...
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 whe...
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 ...