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Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Neonatal progeroid syndrome ? ### Response: How might neonatal progeroid syndrome be treated? Because neonatal progeroid syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment 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 Lipase deficiency combined ? ### Response: What are the signs and symptoms of Lipase deficiency combined? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipase deficiency combined. 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 Bifid nose with or without anorectal and renal anomalies ? ### Response: What are the signs and symptoms of Bifid nose with or without anorectal and renal anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Bifid nose with or without anorectal and renal 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 are the symptoms of Rutherfurd syndrome ? ### Response: What are the signs and symptoms of Rutherfurd syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rutherfurd 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 Gingival fibromatosis, 1 ? ### Response: What are the signs and symptoms of Gingival fibromatosis, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Gingival fibromatosis, 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 Spastic paraplegia 15 ? ### Response: What are the signs and symptoms of Spastic paraplegia 15? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 15. 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 Dyssegmental dysplasia Silverman-Handmaker type ? ### Response: What are the signs and symptoms of Dyssegmental dysplasia Silverman-Handmaker type? The Human Phenotype Ontology provides the following list of signs and symptoms for Dyssegmental dysplasia Silverman-Handmaker 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 Cataract, autosomal recessive congenital 2 ? ### Response: What are the signs and symptoms of Cataract, autosomal recessive congenital 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract, autosomal recessive congenital 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 Pheochromocytoma, childhood ? ### Response: What are the signs and symptoms of Pheochromocytoma, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Pheochromocytoma, childhood. 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) Thanatophoric dysplasia ? ### Response: Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Thanatophoric dysplasia ? ### Response: What are the signs and symptoms of Thanatophoric dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Thanatophoric 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 causes Thanatophoric dysplasia ? ### Response: What causes thanatophoric dysplasia? Thanatophoric dysplasia is caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Mutations in this gene cause the FGFR3 protein to be overly active, which leads to the severe problems with bone growth that are seen in thanatophoric dysplasia.

Below is an instruction from Human. Write a response. ### Instruction: Is Thanatophoric dysplasia inherited ? ### Response: Is thanatophoric dysplasia inherited? Thanatophoric dysplasia is considered an autosomal dominant disorder because one mutated copy of the FGFR3 gene in each cell causes the condition. However, almost all cases of thanatophoric dysplasia are caused by new mutations in the FGFR3 gene and occur in people with no history of the disorder in their family.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Sillence syndrome ? ### Response: What are the signs and symptoms of Sillence syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sillence 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 Mac Dermot Winter syndrome ? ### Response: What are the signs and symptoms of Mac Dermot Winter syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mac Dermot Winter 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) Syringoma ? ### Response: Syringomas are firm yellowish, translucent, or skin colored papules that are often found on the face, particularly around the eyes. They may occur suddenly in crops or multiples. They arise from the sweat ducts. They usually cause no symptoms. They are not associated with underlying abnormality.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Syringoma ? ### Response: What are the signs and symptoms of Syringoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Syringoma. 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 Syringoma ? ### Response: How are syringomas treated? People with syringomas have a variety of treatment options, for example pulsed ablative laser (CO2 or erbium) or light electrocoagulation using a fine epilating needle. To learn more about these and other syringoma treatment options we recommend speaking with your healthcare provider.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Antisynthetase syndrome ? ### Response: Antisynthetase syndrome is a chronic autoimmune condition that affects the muscles and various other parts of the body. The signs and symptoms can vary but may include muscle inflammation (myositis), polyarthritis (inflammation of many joints), interstitial lung disease and Raynaud phenomenon.

Below is an instruction from Human. Write a response. ### Instruction: What causes Antisynthetase syndrome ? ### Response: What causes antisynthetase syndrome? The exact underlying cause of antisynthetase syndrome is currently unknown. However, it is considered an autoimmune disease. Autoimmune disorders occur when the body's immune system attacks and destroys healthy body tissue by mistake.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Antisynthetase syndrome ? ### Response: How is antisynthetase syndrome diagnosed? A diagnosis of antisynthetase syndrome is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been ruled out. Additional testing can then be ordered to confirm the diagnosis, determine the severity of the condition, and inform treatment.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Antisynthetase syndrome ? ### Response: What treatment is available for antisynthetase syndrome? Corticosteroids are typically the first-line of treatment and may be required for several months or years. These medications are often given orally; however, in severe cases, intravenous methylprednisolone may be prescribe initially.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dandy-Walker malformation with postaxial polydactyly ? ### Response: What are the signs and symptoms of Dandy-Walker malformation with postaxial polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with 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 Chronic myeloid leukemia ? ### Response: What are the signs and symptoms of Chronic myeloid leukemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic myeloid 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 is (are) Henoch-Schonlein purpura ? ### Response: Henoch-Schonlein purpura (HSP) is a disease that involves purple spots on the skin (purpura), joint pain, digestive problems, and glomerulonephritis (a type of kidney disorder). While the cause of this condition is not fully understood, it may develop as an immune response to an infection.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Henoch-Schonlein purpura ? ### Response: What are the signs and symptoms of Henoch-Schonlein purpura? The Human Phenotype Ontology provides the following list of signs and symptoms for Henoch-Schonlein purpura. 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: Is Henoch-Schonlein purpura inherited ? ### Response: Can Henoch-Schonlein purpura be inherited? The cause of Henoch-Schonlein purpura is currently unknown. Some evidence suggests that genetic predisposition may contribute to the development of this disease in some cases. Only a few families with multiple relatives affected by HSP have been reported in the medical literature.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Henoch-Schonlein purpura ? ### Response: What treatments are available for Henoch-Schonlein purpura? Unfortunately, there is no cure for Henoch-Schonlein purpura (HSP). Treatments aim to relieve the symptoms of this condition. For example, non-steroidal anti-inflammatory drugs (NSAIDs) or corticosteroids (such as prednisone) may be used to relieve pain.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Multiple mitochondrial dysfunctions syndrome ? ### Response: Multiple mitochondrial dysfunctions syndrome (MMDS) is a severe condition that affects the energy-producing structures of cells (called the mitochondria). Signs and symptoms of this condition generally develop early in life and may include encephalopathy, hypotonia (poor muscle tone), seizures, developmental delay, failure to thrive, lactic acidosis and a variety of other health problems.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Multiple mitochondrial dysfunctions syndrome ? ### Response: What are the signs and symptoms of Multiple mitochondrial dysfunctions syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple mitochondrial dysfunctions 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 Larsen-like syndrome ? ### Response: What are the signs and symptoms of Larsen-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Larsen-like 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 Pulmonic stenosis ? ### Response: 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.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ovarian carcinosarcoma ? ### Response: Ovarian carcinosarcoma is a cancer of the ovary that is composed of two types of cells, namely carcinoma cells and sarcoma cells. Ovarian carcinosarcoma is also known as a malignant mixed mullerian tumor of the ovary. The average age of women at the time of diagnosis is 60 to 70 years.

Below is an instruction from Human. Write a response. ### Instruction: What causes Ovarian carcinosarcoma ? ### Response: Is there a hereditary cause for ovarian carcinosarcoma? Ovarian carcinosarcoma is not thought to be caused by an inherited gene mutation. However, one article in the medical literature suggests that an inherited mutation in the BRCA2 gene contributed to the development of ovarian carcinosarcoma in one woman.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Severe congenital neutropenia autosomal recessive 3 ? ### Response: What are the signs and symptoms of Severe congenital neutropenia autosomal recessive 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe congenital neutropenia autosomal recessive 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 is (are) ADCY5-related dyskinesia ? ### Response: ADCY5-related dyskinesia is a movement disorder that is characterized by several different types of involuntary movements. Affected people generally develop sudden jerks, twitches, tremors, muscle tensing, and/or writhing movements between infancy and late adolescence.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of ADCY5-related dyskinesia ? ### Response: What are the signs and symptoms of ADCY5-related dyskinesia ? The Human Phenotype Ontology provides the following list of signs and symptoms for ADCY5-related dyskinesia . 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) Michelin tire baby syndrome ? ### Response: Michelin tire baby syndrome (MTBS) is a rare skin condition that consists of many, symmetrical skin folds found on the arms and legs of an affected individual at birth (congenital). The skin folds do not cause any problems or impairments and usually disappear naturally as the child grows.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Michelin tire baby syndrome ? ### Response: What are the signs and symptoms of Michelin tire baby syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Michelin tire baby 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 21-hydroxylase deficiency ? ### Response: What are the signs and symptoms of 21-hydroxylase deficiency? Symptoms can vary greatly from patient to patient with 21-hydroxylase deficiency, as a result distinct forms of this deficiency have been recognized. Three common forms include classical salt wasting, simple virilizing, and nonclassical.

Below is an instruction from Human. Write a response. ### Instruction: What causes 21-hydroxylase deficiency ? ### Response: What causes salt-wasting, simple virilizing, and nonclassical 21-hydroxylase-deficient congenital adrenal hyperplasia? Salt-wasting, simple virilizing, and late-onset 21-hydroxylase deficiency are all caused by mutations in the human 21-hydroxylase gene (CYP21A2).

Below is an instruction from Human. Write a response. ### Instruction: Is 21-hydroxylase deficiency inherited ? ### Response: How is 21-hydroxylase-deficient congenital adrenal hyperplasia passed through families? 21-hydroxylase-deficient congenital adrenal hyperplasia has an autosomal recessive pattern of inheritance. In autosomal recessive conditions, both parents carry one copy of a mutated gene for the disorder.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose 21-hydroxylase deficiency ? ### Response: Is genetic testing for 21-hydroxylase-deficient congenital adrenal hyperplasia available? Yes. Genetic testing of 21-hydroxylase-deficient congenital adrenal hyperplasia is available. In most people with this condition, the genetic test result can be used to predict disease severity.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for 21-hydroxylase deficiency ? ### Response: What is the goal for treating 21-hydroxylase-deficient congenital adrenal hyperplasia? The objectives for treating 21-hydroxylase deficiency differ with age. In childhood, the overall goal is to replace cortisol. Obtaining hormonal balance is important and patients growth velocity and bone age is monitored.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial hypocalciuric hypercalcemia type 3 ? ### Response: What are the signs and symptoms of Familial hypocalciuric hypercalcemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hypocalciuric hypercalcemia 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 X-linked thrombocytopenia ? ### Response: What are the signs and symptoms of X-linked thrombocytopenia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked 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 is (are) Pendred syndrome ? ### Response: Pendred syndrome is a condition usually characterized by sensorineural hearing loss in both ears (bilateral) and euthyroid goiter (enlargement of the thyroid gland with normal thyroid gland function). The amount of hearing loss varies among affected people.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pendred syndrome ? ### Response: What are the signs and symptoms of Pendred syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pendred 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: Is Pendred syndrome inherited ? ### Response: How is Pendred syndrome inherited? Pendred syndrome is inherited in an autosomal recessive manner. For most autosomal recessive conditions, a person must have 2 changed (mutated) copies of the responsible gene in each cell in order to have the condition. One changed copy of the responsible gene is usually inherited from each parent; the parents are referred to as carriers.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Quebec platelet disorder ? ### Response: What are the signs and symptoms of Quebec platelet disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Quebec platelet disorder. 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) Craniopharyngioma ? ### Response: A craniopharyngioma is a slow-growing benign tumor that develops near the pituitary gland (a small endocrine gland at the base of the brain) and the hypothalamus (a small cone-shaped organ connected to the pituitary gland by nerves). This tumor most commonly affects children between 5 and 10 years of age; however, adults can sometimes be affected.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Craniopharyngioma ? ### Response: What symptoms may be associated with craniopharyngioma? Craniopharyngioma causes symptoms in three different ways: by increasing the pressure on the brain (intracranial pressure) by disrupting the function of the pituitary gland by damaging the optic nerve Increased pressure on the brain causes headache, nausea, vomiting (especially in the morning), and difficulty with balance.

Below is an instruction from Human. Write a response. ### Instruction: What causes Craniopharyngioma ? ### Response: What causes craniopharyngioma? Craniopharyngiomas are thought to arise from epithelial remnants of the craniopharyngeal duct or Rathke's pouch (adamantinomatous type tumours) or from metaplasia of squamous epithelial cell rests that are remnants of the part of the stomadeum that contributed to the buccal mucosa (squamous papillary type tumours).

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Craniopharyngioma ? ### Response: How might craniopharyngiomas be treated? Traditionally, surgery has been the main treatment for craniopharyngioma. However, radiation treatment instead of surgery may be the best choice for some patients. In tumors that cannot be removed completely with surgery alone, radiation therapy is usually necessary.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Rhizomelic syndrome ? ### Response: What are the signs and symptoms of Rhizomelic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhizomelic 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 Spinocerebellar ataxia 21 ? ### Response: What are the signs and symptoms of Spinocerebellar ataxia 21? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 21. 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 19p13.12 microdeletion syndrome ? ### Response: What are the signs and symptoms of 19p13.12 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 19p13.12 microdeletion 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 Brachydactyly Mononen type ? ### Response: What are the signs and symptoms of Brachydactyly Mononen type? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly Mononen 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 Acrocapitofemoral dysplasia ? ### Response: What are the signs and symptoms of Acrocapitofemoral dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrocapitofemoral 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 is (are) Chromosome 12q deletion ? ### Response: Chromosome 12q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 12. 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 Multiple epiphyseal dysplasia 1 ? ### Response: What are the signs and symptoms of Multiple epiphyseal dysplasia 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia 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 Deafness nephritis anorectal malformation ? ### Response: What are the signs and symptoms of Deafness nephritis anorectal malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness nephritis anorectal malformation. 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 Neutrophil-specific granule deficiency ? ### Response: What are the signs and symptoms of Neutrophil-specific granule deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Neutrophil-specific granule 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 is (are) Cohen syndrome ? ### Response: Cohen syndrome is a congenital (present since birth) condition that was first described in 1973 by Dr. M.M. Cohen, Jr. When the syndrome was first described, it was believed that its main features were obesity, hypotonia (low muscle tone), intellectual disabilities, distinctive facial features with prominent upper central teeth and abnormalities of the hands and feet.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cohen syndrome ? ### Response: What are the signs and symptoms of Cohen syndrome? The signs and symptoms of Cohen syndrome may vary greatly from person to person. Some studies have suggested that a large number of people with Cohen syndrome have similar facial features regardless of ethnic background, including thick hair and eyebrows, long eyelashes, wave-shaped palpebral fissures, broad nasal tip, smooth or shortened philtrum, and hypotonic appearance.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Cohen syndrome ? ### Response: How is Cohen syndrome diagnosed? The diagnosis of Cohen syndrome is based on the symptoms present in the patient, but because the symptoms vary greatly from person to person, no consensus diagnostic criteria exist. Genetic testing is available for COH1, the only gene known to be associated with Cohen syndrome.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Cohen syndrome ? ### Response: How is Cohen syndrome treated? There is no cure for Cohen syndrome. Treatment is focused on improving or alleviating the signs and symptoms in the patient. Typically, when a person is first diagnosed with Cohen syndrome, he or she will undergo an eye and blood examination.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pelizaeus-Merzbacher-like disease ? ### Response: What are the signs and symptoms of Pelizaeus-Merzbacher-like disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Pelizaeus-Merzbacher-like 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 are the symptoms of Retinal cone dystrophy 3A ? ### Response: What are the signs and symptoms of Retinal cone dystrophy 3A? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal cone dystrophy 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 causes Nephrocalcinosis ? ### Response: What causes nephrocalcinosis? Nephrocalcinosis may be caused by a variety of things, including underlying disorders or conditions, medications or supplements, and infections. Causes may include: Primary hyperparathyroidism is the single most common cause of nephrocalcinosis in adults.

Below is an instruction from Human. Write a response. ### Instruction: Is Nephrocalcinosis inherited ? ### Response: Is nephrocalcinosis inherited? Nephrocalcinosis may be caused by a large variety of things, including underlying disorders, certain medications and supplements, and infections. Nephrocalcinosis itself is not inherited. However, the underlying condition that is causing nephrocalcinosis in an individual may be inherited.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Nephrocalcinosis ? ### Response: How might nephrocalcinosis be treated? Treatment of nephrocalcinosis includes treating the underlying condition causing nephrocalcinosis, if it is known. The goal of treatment is to reduce symptoms and prevent more calcium from being deposited in the kidneys.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hepatoblastoma ? ### Response: Hepatoblastoma is a rare malignant (cancerous) tumor of the liver that usually occurs in the first 3 years of life. In early stages of the condition, there may be no concerning signs or symptoms. As the tumor gets larger, affected children may experience a painful, abdominal lump; swelling of the abdomen; unexplained weight loss; loss of appetite; and/or nausea and vomiting.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hepatoblastoma ? ### Response: What are the signs and symptoms of Hepatoblastoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatoblastoma. 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 Partial agenesis of corpus callosum ? ### Response: What are the signs and symptoms of Partial agenesis of corpus callosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Partial agenesis of corpus callosum. 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 Spinocerebellar ataxia autosomal recessive 7 ? ### Response: What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 7. 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 Klinefelter syndrome ? ### Response: What are the signs and symptoms of Klinefelter syndrome? The signs and symptoms of Klinefelter syndrome (KS) vary among affected people. Some men with KS have no symptoms of the condition or are only mildy affected. In these cases, they may not even know that they are affected by KS.

Below is an instruction from Human. Write a response. ### Instruction: What causes Klinefelter syndrome ? ### Response: What causes Klinefelter syndrome? Klinefelter syndrome usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes.

Below is an instruction from Human. Write a response. ### Instruction: Is Klinefelter syndrome inherited ? ### Response: Is Klinefelter syndrome inherited? Klinefelter syndrome is not inherited, but usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Klinefelter syndrome ? ### Response: How is Klinefelter syndrome diagnosed? A diagnosis of Klinefelter syndrome is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This generally includes a chromosomal analysis (called a karyotype).

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Klinefelter syndrome ? ### Response: How might Klinefelter syndrome be treated? Because symptoms of Klinefelter syndrome (KS) can sometimes be very mild, many people are never diagnosed or treated. When a diagnosis is made, treatment is based on the signs and symptoms present in each person. This may include: Educational interventions - As children, many people with Klinefelter syndrome qualify for special services to help them in school.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Periodic fever, aphthous stomatitis, pharyngitis and adenitis ? ### Response: Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) is a periodic disease, which is a heterogeneous group of disorders characterized by short episodes of illness that regularly recur for several years alternated with healthy periods.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Periodic fever, aphthous stomatitis, pharyngitis and adenitis ? ### Response: What are the signs and symptoms of Periodic fever, aphthous stomatitis, pharyngitis and adenitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Periodic fever, aphthous stomatitis, pharyngitis and adenitis. 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 Periodic fever, aphthous stomatitis, pharyngitis and adenitis ? ### Response: What are the signs and symptoms of Periodic fever, aphthous stomatitis, pharyngitis and adenitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Periodic fever, aphthous stomatitis, pharyngitis and adenitis. 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: How to diagnose Periodic fever, aphthous stomatitis, pharyngitis and adenitis ? ### Response: How is periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) diagnosed? There are no laboratory tests or imaging procedures specific to the diagnosis of PFAPA. This condition is clinically diagnosed in individuals who have a history of 3 or more episodes of fevers that last up to 5 days and recur at regular intervals without other evidence of acute illness.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Periodic fever, aphthous stomatitis, pharyngitis and adenitis ? ### Response: How might periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis be treated? Treatment options that have been successful in improving symptoms of this condition include: oral steroids (prednisone or prednisolone), tonsillectomy with adenoidectomy and cimetidine.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Asperger syndrome ? ### Response: Asperger syndrome (AS) is an autism spectrum disorder, a type of neurological condition characterized by impaired language and communication skills, and repetitive or restrictive thought and behavior patterns. Unlike many people with autism, those with AS retain their early language skills.

Below is an instruction from Human. Write a response. ### Instruction: Is Asperger syndrome inherited ? ### Response: Is Asperger syndrome inherited? Autism spectrum disorders including Asperger syndrome sometimes "run in families," but no specific inheritance pattern has been recognized. The condition is likely caused by a combination of genetic and environmental factors, which means that not all people with a genetic predisposition will be affected.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Beta ketothiolase deficiency ? ### Response: Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This condition also impairs the body's ability to process ketones, which are molecules produced during the breakdown of fats.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Beta ketothiolase deficiency ? ### Response: What are the signs and symptoms of Beta ketothiolase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Beta ketothiolase 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 Maternal hyperphenylalaninemia ? ### Response: What are the signs and symptoms of Maternal hyperphenylalaninemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Maternal hyperphenylalaninemia. 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) Stargardt disease ? ### Response: Stargardt disease is a genetic eye disorder that causes progressive vision loss. It affects the macula, an area of the retina responsible for sharp, central vision. Vision loss is due to abnormal accumulation of a fatty yellow pigment (lipofuscin) in the cells within the macula.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Stargardt disease ? ### Response: What are the signs and symptoms of Stargardt disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Stargardt 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: Is Stargardt disease inherited ? ### Response: How is Stargardt disease inherited? Stargardt disease is most commonly inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Stargardt disease ? ### Response: Is genetic testing available for Stargardt disease? Yes. Genetic testing may help distinguish the type of Stargardt disease a person has, and provide information about the mode of inheritance and risks to other family members. The Genetic Testing Registry (GTR) provides information about the genetic tests available for Stargardt disease.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Noonan syndrome ? ### Response: Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Noonan syndrome ? ### Response: What are the signs and symptoms of Noonan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan 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: Is Noonan syndrome inherited ? ### Response: How is Noonan syndrome inherited? Noonan syndrome is inherited in an autosomal dominant manner. This means that having one changed (mutated) copy of the responsible gene in each cell is enough to cause the condition. Each child of a person with Noonan syndrome has a 50% (1 in 2) chance to inherit the condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Noonan syndrome ? ### Response: How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Koolen de Vries syndrome ? ### Response: Koolen de Vries syndrome, formerly known as 17q21.31 microdeletion syndrome, is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location designated as q21.31. People with 17q21.31 microdeletion syndrome may have developmental delay, intellectual disability, seizures, hypotonia.