Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: What causes Holt-Oram syndrome ?
Answer: What causes Holt-Oram syndrome? Holt-Oram syndrome is caused by changes (mutations) in the TBX5 gene. This gene gives the body instructions for making a protein involved in the development of the heart and upper limbs before birth. In particular, this gene seems important for dividing the developing heart into four chambers, and in regulating the development of bones in the arms and hands. When the TBX5 gene doesn't function properly, the features of Holt-Oram syndrome result. In some cases the mutation occurs for the first time in an affected person, while in other cases the mutation is inherited from a parent. However, in both of these cases, there is nothing a parent can do to cause this mutation or condition in a child.
Question: Is Holt-Oram syndrome inherited ?
Answer: How is Holt-Oram syndrome inherited? Holt-Oram syndrome (HOS) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs and symptoms of the condition. In most cases, the mutation in the gene occurs for the first time in the affected person and is not inherited from a parent. When a mutation occurs for the first time, it is called a de novo mutation. This is what typically occurs when there is no family history of the condition. A de novo mutation is due to a random change in the DNA in an egg or sperm cell, or right after conception. In some cases, an affected person inherits the mutated copy of the gene from an affected parent. In these cases, the symptoms and severity can differ from those of the affected parent. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the condition.
Question: How to diagnose Holt-Oram syndrome ?
Answer: How is Holt-Oram syndrome diagnosed? The diagnosis of Holt-Oram syndrome can be established based on physical features and family history. It can be confirmed through genetic testing looking for mutations in the TBX5 gene. Hand x-rays are usually performed for upper-limb malformations. A family history of this condition and/or cogenital heart malformations is also used as a diagnostic tool as a congenital heart malformation is present in 75% of individuals with Holt-Oram syndrome. An echocardiogram and electrocardiogram can be used to determine the presence and severity of heart defects and/or cardiac conduction disease. Holt-Oram syndrome can be excluded in individuals with congenital malformations involving the following structures or organ systems: ulnar ray only, kidney, vertebra, head and face region, auditory system (hearing loss or ear malformations), lower limb, anus, or eye.
Question: What are the symptoms of Costocoracoid ligament congenitally short ?
Answer: What are the signs and symptoms of Costocoracoid ligament congenitally short? The Human Phenotype Ontology provides the following list of signs and symptoms for Costocoracoid ligament congenitally short. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the shoulder 90% Narrow chest 90% Sprengel anomaly 90% Abnormality of the scapula - Abnormality of the shoulder girdle musculature - Autosomal dominant inheritance - Down-sloping shoulders - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What is (are) Cap myopathy ?
Answer: Cap myopathy is a disorder that primarily affects skeletal muscles, the muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. The muscle weakness, which begins at birth or during childhood, can worsen over time. The name cap myopathy comes from characteristic abnormal cap-like structures that can be seen in muscle cells when muscle tissue is viewed under a microscope. The severity of cap myopathy is related to the percentage of muscle cells that have these caps. Individuals in whom 70 to 75 percent of muscle cells have caps typically have severe breathing problems and may not survive childhood, while those in whom 10 to 30 percent of muscle cells have caps have milder symptoms and can live into adulthood. Cap myopathy can be caused by mutations in the in the ACTA1, TPM2, or TPM3 genes. This condition follows an autosomal dominant manner of inheritance, however, most cases are not inherited; they result from new mutations in the gene and occur in people with no history of the disorder in their family.
Question: What are the symptoms of Cone-rod dystrophy 6 ?
Answer: What are the signs and symptoms of Cone-rod dystrophy 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Childhood onset - Cone/cone-rod dystrophy - Peripheral visual field loss - Reduced visual acuity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Absent patella ?
Answer: What are the signs and symptoms of Absent patella? The Human Phenotype Ontology provides the following list of signs and symptoms for Absent patella. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin - Autosomal dominant inheritance - Patellar aplasia - Patellar hypoplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Sener syndrome ?
Answer: What are the signs and symptoms of Sener syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sener syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anteriorly placed anus - Chronic diarrhea - Coarse hair - Delayed eruption of permanent teeth - Eczema - Entropion - High palate - Hyperopic astigmatism - Hypertelorism - Hypodontia - Hypoplasia of the corpus callosum - Inguinal hernia - Micropenis - Microtia - Natal tooth - Patent ductus arteriosus - Perivascular spaces - Polyhydramnios - Posteriorly rotated ears - Smooth philtrum - Sporadic - Umbilical hernia - Wide anterior fontanel - Wide mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What is (are) Hermansky-Pudlak syndrome ?
Answer: Hermansky-Pudlak syndrome is a multisystem, genetic condition characterized by blood platelet dysfunction with prolonged bleeding, visual impairment, and abnormally light coloring of the skin, hair, and eyes (oculocutaneous albinism). Long-term sun exposure greatly increases the risk of skin damage and skin cancers. Some individuals have colitis, kidney failure, and pulmonary fibrosis. Symptoms of pulmonary fibrosis usually appear during the early thirties and rapidly worsen. This condition is inherited in an autosomal recessive fashion. Treatment is symptomatic and supportive. There are nine different types of Hermansky-Pudlak syndrome, which can be distinguished by their signs and symptoms and underlying genetic cause. Types 1 and 4 are the most severe forms. Types 1, 2, and 4 are the only types associated with pulmonary fibrosis. Individuals with type 3, 5, or 6 have the mildest symptoms of all the types. Little is known about the signs, symptoms, and severity of types 7, 8 and 9.
Question: What are the symptoms of LEOPARD syndrome ?
Answer: What are the signs and symptoms of LEOPARD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for LEOPARD syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pulmonary artery 90% Abnormality of the pulmonary valve 90% Arrhythmia 90% Freckling 90% Hyperextensible skin 90% Hypertelorism 90% Intrauterine growth retardation 90% Melanocytic nevus 90% Myelodysplasia 90% Sensorineural hearing impairment 90% Abnormality of the mitral valve 50% Abnormality of the nose 50% Complete atrioventricular canal defect 50% Cryptorchidism 50% Decreased fertility 50% Hypertrophic cardiomyopathy 50% Low-set, posteriorly rotated ears 50% Pectus carinatum 50% Pectus excavatum 50% Ptosis 50% Sprengel anomaly 50% Webbed neck 50% Abnormal localization of kidney 7.5% Abnormality of calvarial morphology 7.5% Abnormality of the endocardium 7.5% Abnormality of the voice 7.5% Aneurysm 7.5% Aplasia/Hypoplasia of the abdominal wall musculature 7.5% Cognitive impairment 7.5% Coronary artery disease 7.5% Displacement of the external urethral meatus 7.5% Leukemia 7.5% Melanoma 7.5% Neuroblastoma 7.5% Scoliosis 7.5% Short stature 7.5% Spina bifida occulta 7.5% Triangular face 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What is (are) Progressive bulbar palsy ?
Answer: Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms.
Question: How to diagnose Progressive bulbar palsy ?
Answer: How is progressive bulbar palsy diagnosed? What tests aid in the diagnosis of progressive bulbar palsy? Progressive bulbar palsy is a difficult to diagnose condition. No one test or procedure offers a definitive diagnosis. Diagnosis is largely based upon the person's symptoms, tests that show how well their nerves are working (e.g., an EMG or electromyography), and ruling out other causes for the symptoms. Particularly, stroke and a condition called myasthenia gravis, may have certain symptoms that are similar to those of progressive bulbar palsy and must be ruled out prior to diagnosing this disorder. Testing for acetylcholine receptor-binding antibodies may be helpful in ruling out myasthenia gravis. Because of the lack of definitive tests, you may find it helpful to consult with a doctor who is experienced in diagnosing ALS. The ALS Association lists experts and specialty centers through their Web site at: http://www.alsa.org/community/als-clinics
Question: What are the treatments for Progressive bulbar palsy ?
Answer: How is progressive bulbar palsy treated? Treatments aim to help people cope with the symptoms of progressive bulbar palsy, such as feeding tubes, devices to help with talking, and medicines to treat muscle spasms, weakness, drooling, sleep problems, pain, and depression. The Robert Packard Center for ALS Research at John Hopkins offers further general information on treatment: http://www.alscenter.org/living_with_als/treatment.html The Mayo Clinic provides information on treatment of ALS in general, which may be helpful: http://www.mayoclinic.org/diseases-conditions/amyotrophic-lateral-sclerosis/basics/treatment/con-20024397 If you are interested in learning about clinical trials, we recommend that you call the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH) at 1-800-411-1222. Organizations, such as the ALS Association and Muscular Dystrophy Association are great sources for information on clinical trial opportunities and research. You can find information about participating in a clinical trial as well as learn about resources for travel and lodging assistance, through the Get Involved in Research section of our Web site.
Question: What is (are) Pigment-dispersion syndrome ?
Answer: Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance . At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed.
Question: What is (are) Noonan-like syndrome with loose anagen hair ?
Answer: Noonan-like syndrome with loose anagen hair is characterized by facial features suggestive of Noonan syndrome (macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears) along with hair that resembles loose anagen hair syndrome (pluckable, sparse, thin and slow-growing). Other features include frequent congenital heart defects, distinctive skin features (darkly pigmented skin with eczema or ichthyosis), short stature which may be associated with a growth hormone deficiency, and developmental delays. The condition is caused by mutations in the SHOC2 gene. It follows an autosomal dominant pattern of inheritance.
Question: What is (are) Porokeratosis of Mibelli ?
Answer: Porokeratosis of Mibelli is a skin condition that usually develops in children or young adults. It begins as one or a few small, brownish bumps that grow into raised, bumpy patches. These patches slowly increase in size over time. The cause of this condition is unknown, though exposure to sunlight or other forms of radiation, genetic factors and a weakened immune system have been suggested as possible risk factors. Porokeratosis of Mibelli may sometimes harm normal tissue underlying the affected area; it may also develop into skin cancer. Treatment depends on the size, location, and aggressiveness of porokeratosis in each affected individual; it may include observation only, medication, or surgery.
Question: What are the treatments for Porokeratosis of Mibelli ?
Answer: How might porokeratosis of Mibelli be treated? Treatment depends on the size, location, and aggressiveness of porokeratosis of Mibelli. Affected individuals are recommended to visit their personal physician regularly to watch for signs of skin cancer, limit sun exposure to the affected area, and use moisturizers as needed. Imiquimod cream has been found to be an effective treatment, as has 5-fluorouracil cream. A group of medications called retinoids (including acitretin and isotretinoin), as a pill or cream, may be another treatment option. If a skin cancer develops from porokeratosis of Mibelli, surgery is recommended.
Question: What are the symptoms of Hartnup disease ?
Answer: What are the signs and symptoms of Hartnup disease? The signs and symptoms of Hartnup disease may vary and include the following: Skin findings: sensitivity to sunlight Neurologic symptoms: ataxia, spasticity, headaches,and hypotonia Psychiatric symptoms: anxiety, emotional instability, mood changes Ocular findings: double vision, nystagmus, strabismus, photophobia Symptoms may be triggered by sunlight exposure, fever, drugs, and emotional or physical stress. The episodes of skin and neurologic findings may last for 1-4 weeks before spontaneous remission occurs. The Human Phenotype Ontology provides the following list of signs and symptoms for Hartnup disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cutaneous photosensitivity 90% EEG abnormality 90% Hallucinations 90% Hyperreflexia 90% Incoordination 90% Migraine 90% Muscular hypotonia 90% Malabsorption 50% Nystagmus 50% Photophobia 50% Short stature 50% Skin rash 50% Strabismus 50% Abnormal blistering of the skin 7.5% Cognitive impairment 7.5% Encephalitis 7.5% Gingivitis 7.5% Glossitis 7.5% Hypopigmented skin patches 7.5% Irregular hyperpigmentation 7.5% Seizures 7.5% Autosomal recessive inheritance - Emotional lability - Episodic ataxia - Hypertonia - Neutral hyperaminoaciduria - Psychosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.