Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: What are the symptoms of Hyperostosis corticalis generalisata, benign form of Worth with torus palatinus ?
Answer: What are the signs and symptoms of Hyperostosis corticalis generalisata, benign form of Worth with torus palatinus? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperostosis corticalis generalisata, benign form of Worth with torus palatinus. 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) Abnormal cortical bone morphology 90% Abnormality of the ribs 90% Craniofacial hyperostosis 90% Torus palatinus 90% Abnormal form of the vertebral bodies 50% Facial palsy 7.5% Mandibular prognathia 7.5% Nystagmus 7.5% Sensorineural hearing impairment 7.5% Abnormality of pelvic girdle bone morphology - Autosomal dominant inheritance - Clavicular sclerosis - Dental malocclusion - Flat forehead - Growth abnormality - Metacarpal diaphyseal endosteal sclerosis - Metatarsal diaphyseal endosteal sclerosis - Thickened cortex of long bones - Vertebral body sclerosis - 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 Familial glucocorticoid deficiency ?
Answer: What are the signs and symptoms of Familial glucocorticoid deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial glucocorticoid deficiency. 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) Accelerated skeletal maturation - Autosomal recessive inheritance - Coma - Decreased circulating cortisol level - Failure to thrive - Hyperpigmentation of the skin - Increased circulating ACTH level - Recurrent hypoglycemia - Recurrent infections - Seizures - Tall stature - 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 Chromosome Xp22 deletion syndrome ?
Answer: What are the signs and symptoms of Chromosome Xp22 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome Xp22 deletion 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) Autistic behavior 100% Muscular hypotonia 5% Aggressive behavior - Attention deficit hyperactivity disorder - Impulsivity - Intellectual disability - Motor tics - 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 Blepharophimosis with ptosis, syndactyly, and short stature ?
Answer: What are the signs and symptoms of Blepharophimosis with ptosis, syndactyly, and short stature? The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharophimosis with ptosis, syndactyly, and short stature. 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 cranial nerves 90% Blepharophimosis 90% Highly arched eyebrow 90% Mandibular prognathia 90% Ptosis 90% Strabismus 90% Synophrys 90% Thick eyebrow 90% Short stature 50% Abnormality of the sense of smell 7.5% Cognitive impairment 7.5% Hypertelorism 7.5% Thick lower lip vermilion 7.5% Abnormality of the foot - Anosmia - Autosomal recessive inheritance - Cutaneous finger syndactyly - Esotropia - Frontalis muscle weakness - Intellectual disability, borderline - Weak extraocular muscles - Wide nasal bridge - 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 Microphthalmia associated with colobomatous cyst ?
Answer: What are the signs and symptoms of Microphthalmia associated with colobomatous cyst? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia associated with colobomatous cyst. 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 recessive inheritance - Microphthalmia - 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) Roberts syndrome ?
Answer: Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities. Affected individuals are born with abnormalities of all four limbs and typically have shortened arm and leg bones (hypomelia). They may also have phocomelia (in severe cases); abnormal or missing fingers and toes; joint deformities (contractures); and numerous facial abnormalities including cleft lip with or without cleft palate; micrognathia; ear abnormalities; hypertelorism; down-slanting palpebral fissures; small nostrils; and a beaked nose. Microcephaly, intellectual disability, and heart, kidney or genital abnormalities may also be present. Infants with a severe form of Roberts syndrome are often stillborn or die shortly after birth, while mildly affected individuals may live into adulthood. It is caused by mutations in the ESCO2 gene and is inherited in an autosomal recessive pattern.
Question: What is (are) Autosomal dominant neuronal ceroid lipofuscinosis 4B ?
Answer: Autosomal dominant neuronal ceroid lipofuscinosis 4B is a form of adult neuronal ceroid lipofuscinosis, which is a rare condition that affects the nervous system. Signs and symptoms usually begin around age 30, but they can develop anytime between adolescence and late adulthood. Affected people generally experience behavioral abnormalities, dementia; difficulties with muscle coordination (ataxia); and involuntary movements such as tremors or tics. It can be caused by changes (mutations) in the DNAJC5 or CTSF gene and is inherited in an autosomal dominant manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
Question: What are the symptoms of Autosomal dominant neuronal ceroid lipofuscinosis 4B ?
Answer: What are the signs and symptoms of Autosomal dominant neuronal ceroid lipofuscinosis 4B? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant neuronal ceroid lipofuscinosis 4B. 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) Adult onset - Ataxia - Auditory hallucinations - Autosomal dominant inheritance - Curvilinear intracellular accumulation of autofluorescent lipopigment storage material - Dementia - Depression - Fingerprint intracellular accumulation of autofluorescent lipopigment storage material - Granular osmiophilic deposits (GROD) in cells - Increased neuronal autofluorescent lipopigment - Myoclonus - Parkinsonism - Rapidly progressive - Rectilinear intracellular accumulation of autofluorescent lipopigment storage material - Seizures - Visual hallucinations - 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) Pachydermoperiostosis ?
Answer: Pachydermoperiostosis is a rare disorder characterized by clubbing of the fingers and toes; thickening of the skin of the face (pachyderma); excessive sweating (hyperhidrosis); and new bone formation associated with joint pain. Other features may include congenital heart disease and delayed closure of fontanelles. This condition typically appears during childhood or adolescence, often around the time of puberty, and progresses slowly for about ten years. Both autosomal dominant and autosomal recessive inheritance has been reported. Mutations in the HPGD gene have been found in those with the autosomal recessive form of this condition.
Question: What are the treatments for Pachydermoperiostosis ?
Answer: How might pachydermoperiostosis be treated? Treatment for pachydermoperiostosis mainly focuses on the specific signs and symptoms present in each individual. Bone and joint pain may be treated with nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids or colchicine. A vagotomy, a surgical procedure in which certain branches of the vagus nerve are cut, may in some instances improve joint pain and swelling. Skin-related symptoms may be treated with retinoids. Plastic surgery may be performed to improve facial appearance in some individuals. Surgery may also be performed to treat clubbing of fingers and/or toes.
Question: What are the symptoms of Aortic arch anomaly - peculiar facies - intellectual disability ?
Answer: What are the signs and symptoms of Aortic arch anomaly - peculiar facies - intellectual disability? The Human Phenotype Ontology provides the following list of signs and symptoms for Aortic arch anomaly - peculiar facies - intellectual disability. 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) Broad forehead 90% Carious teeth 90% Cognitive impairment 90% Convex nasal ridge 90% Downturned corners of mouth 90% Facial asymmetry 90% Low-set, posteriorly rotated ears 90% Macrotia 90% Narrow mouth 90% Overriding aorta 90% Prominent nasal bridge 90% Triangular face 90% Arteriovenous malformation 50% Microcephaly 50% Abnormality of the hip bone 7.5% Behavioral abnormality 7.5% Genu varum 7.5% Hypoplasia of the zygomatic bone 7.5% Intrauterine growth retardation 7.5% Mandibular prognathia 7.5% Muscular hypotonia 7.5% Abnormal facial shape - Autosomal dominant inheritance - Intellectual disability - Right aortic arch with mirror image branching - 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) Cholesteatoma ?
Answer: Cholesteatoma is a type of skin cyst located in the middle ear. It can be congenital (present from birth), but it more commonly occurs as a complication of chronic ear infection. The hallmark symptom is a painless discharge from the ear. Hearing loss, dizziness, and facial muscle paralysis are rare but can result from continued cholesteatoma growth. Surgery can stop infections and prevent complications.
Question: What are the symptoms of Cholesteatoma ?
Answer: What symptoms are associated with cholesteatoma? Early symptoms may include drainage from the ear, sometimes with a foul odor. As the cholesteatoma cyst or sac enlarges, it can lead to a full feeling or pressure in the ear, hearing loss, dizziness and pain, numbness or muscle weakness on one side of the face. On examination, the ear drum (tympanic membrane) appears abnormal. In rare cases, a cholesteatoma may erode through the tegmen, allowing an epidural abscess to form which could lead to a more serious brain infection.
Question: What causes Cholesteatoma ?
Answer: What causes cholesteatoma? A cholesteatoma usually occurs because of poor eustachian tube function in conjunction with infection in the middle ear. Negative pressure within the middle ear pulls a part of the eardrum the wrong way, creating a sac or cyst that fills with old skin cells and other waste material. As the cyst gets bigger, some of the middle ear bones break down, affecting hearing. A rare congenital form of cholesteatoma (one present at birth) can occur in the middle ear and elsewhere, such as in the nearby skull bones.
Question: What are the treatments for Cholesteatoma ?
Answer: How might cholesteatoma be treated? An examination by an otolaryngologist - a doctor who specializes in head and neck conditions - can confirm the presence of a cholesteatoma. Initial treatment may consist of a careful cleaning of the ear, antibiotics, and eardrops. Therapy aims to stop drainage in the ear by controlling the infection. Large or complicated cholesteatomas may require surgical treatment to protect the patient from serious complications.
Question: What is (are) Schimke immunoosseous dysplasia ?
Answer: Schimke immunoosseous dysplasia (SIOD) is a condition characterized by short stature, kidney disease, and a weakened immune system. Growth failure is often the first sign of this condition. Other features are usually detected in the evaluation for growth failure or in the following years. The severity of SIOD ranges from an infantile or severe early-onset form to a juvenile or milder late-onset form. Complications of the severe form of SIOD can include strokes, severe opportunistic infections, bone marrow failure, and kidney failure that can be life-threatening early in life. People with milder disease have survived to adulthood if their kidney disease is managed. This condition is inherited in an autosomal recessive pattern. Mutations in the SMARCAL1 gene increase the risk to develop Schimke immunoosseous dysplasia. However, in order for people with SMARCAL1 gene mutations to develop symptoms of Schimke immunoosseous dysplasia, other currently unknown genetic or environmental factors must also be present.
Question: How to diagnose Schimke immunoosseous dysplasia ?
Answer: How is Schimke immunoosseous dysplasia diagnosed? The diagnosis of SIOD is made on clinical findings. The most definitive diagnostic findings are skeletal dysplasia (spondyloepiphyseal dysplasia), renal dysfunction (urinary protein loss), T lymphocyte deficiency, characteristic facial features, and hyperpigmented macules. DNA testing for mutations in SMARCAL1 is available on a clinical basis.
Question: What are the treatments for Schimke immunoosseous dysplasia ?
Answer: How might Schimke immunoosseous dysplasia be treated? Treatment of Schimke immunoosseous dysplasia (SIOD) is based on addressing individual symptoms as they develop. Renal transplantation can treat the renal disease, and bone marrow transplantation has been done to treat the immunodeficiency. Blood thinning medications can transiently improve blood flow through the atherosclerotic arteries but do not provide enduring relief from cerebral ischemia. Treatment with acyclovir and some antibacterial agents has been beneficial for preventing of reducing the frequency of opportunistic infections. More detailed information about treatment for SIOD can be found on the GeneReview's Web site. Click on the GeneReview link to read more.
Question: What is (are) Hydranencephaly ?
Answer: Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid (CSF). Affected infants may appear and act normal at birth, but irritability and hypertonia often develop within a few weeks. Other signs and symptoms may include seizures, hydrocephalus, visual impairment, lack of growth, deafness, blindness, paralysis, and intellectual disabilities. Prognosis is typically poor with many affected children dying before one year of age. In rare cases, children may survive for several years or more. It has been suspected to be an inherited condition, although some researchers believe it may be caused by prenatal blockage of the carotid artery where it enters the cranium. Treatment is generally symptomatic and supportive; hydrocephalus may be treated with a shunt.
Question: What are the treatments for Hydranencephaly ?
Answer: How might hydranencephaly be treated? Unfortunately, there is no definitive treatment for hydranencephaly. Management of the condition typically focuses on the specific signs and symptoms present in the affected individual and is mostly supportive. Hydrocephalus (the buildup of too much cerebral spinal fluid in the brain) may be treated with a shunt (a surgically implanted tube that helps to drain fluid from the brain).
Question: What is (are) Tay-Sachs disease ?
Answer: Tay-Sachs disease is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord. Tay-Sachs is caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A). Without Hex-A, a fatty substance, or lipid, called GM2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. This ongoing accumulation causes progressive damage to the cells. Tay-Sachs disease is inherited in an autosomal recessive pattern.
Question: What causes Tay-Sachs disease ?
Answer: What causes Tay-Sachs disease? Tay-Sachs disease is caused by mutations in the HEXA gene. The HEXA gene provides instructions for making part of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. This enzyme is located in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. Within lysosomes, beta-hexosaminidase A helps break down a fatty substance called GM2 ganglioside. Mutations in the HEXA gene disrupt the activity of beta-hexosaminidase A, which prevents the enzyme from breaking down GM2 ganglioside. As a result, this substance accumulates to toxic levels, particularly in neurons in the brain and spinal cord. Progressive damage caused by the buildup of GM2 ganglioside leads to the destruction of these neurons, which causes the signs and symptoms seen in Tay-Sachs disease,
Question: Is Tay-Sachs disease inherited ?
Answer: How is Tay-Sachs disease inherited? This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.