sarnsrun/medquad huggingface dataset:
Topic: Dermatoosteolysis Kirghizian type
Question: What are the symptoms of Dermatoosteolysis Kirghizian type ?
Answer: What are the signs and symptoms of Dermatoosteolysis Kirghizian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatoosteolysis Kirghizian type. 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 diaphysis morphology 90% Abnormality of temperature regulation 90% Abnormality of the fingernails 90% Abnormality of the metaphyses 90% Abnormality of the toenails 90% Abnormality of the wrist 90% Aplasia/Hypoplasia of the skin 90% Arthralgia 90% Brachydactyly syndrome 90% Inflammatory abnormality of the eye 90% Nyctalopia 90% Osteoarthritis 90% Osteolysis 90% Reduced number of teeth 90% Scoliosis 90% Skin ulcer 90% Tarsal synostosis 90% Upper limb phocomelia 90% Ankle swelling - Autosomal recessive inheritance - Blindness - Broad foot - Fever - Flexion contracture - Infantile onset - Joint contracture of the hand - Keratitis - Nail dysplasia - Nail dystrophy - Oligodontia - Split hand - 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.
Source: GARD
Topic: Isolated growth hormone deficiency type 3
Question: What are the symptoms of Isolated growth hormone deficiency type 3 ?
Answer: What are the signs and symptoms of Isolated growth hormone deficiency type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated growth hormone deficiency type 3. 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) Chronic otitis media - Conjunctivitis - Delayed skeletal maturation - Diarrhea - Encephalitis - Enteroviral dermatomyositis syndrome - Enteroviral hepatitis - Epididymitis - Growth hormone deficiency - Hearing impairment - Meningitis - Panhypogammaglobulinemia - Pneumonia - Prostatitis - Pyoderma - Recurrent bacterial infections - Recurrent enteroviral infections - Recurrent urinary tract infections - Septic arthritis - Short stature - Sinusitis - X-linked recessive inheritance - 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.
Source: GARD
Topic: Esthesioneuroblastoma
Question: What is (are) Esthesioneuroblastoma ?
Answer: Esthesioneuroblastoma is a rare cancer of the upper part of the nasal cavity called the cribiform plate, which is a bone deep in the skull between the eyes, and above the ethmoid sinuses. It develops in nerve tissue associated with the sense of smell and can occur in people of any age. This cancer is very uncommon, accounting for 7 percent of all cancers of the nasal cavity and paranasal sinuses. Although it generally grows slowly, an esthesioneuroblastoma can sometimes grow very quickly. Fast-growing tumors can metastasize (spread) even many years after treatment of the initial tumor.
Source: GARD
Topic: Esthesioneuroblastoma
Question: What are the symptoms of Esthesioneuroblastoma ?
Answer: What symptoms are associated with esthesioneuroblastoma? Symptoms of esthesioneuroblastoma may include one or more of the following: Nasal obstruction Loss of smell Chronic sinus infections (sinusitis) Nasal bleeding Sinus pain and headache  Visual changes
Source: GARD
Topic: Esthesioneuroblastoma
Question: What causes Esthesioneuroblastoma ?
Answer: What causes esthestioneuroblastoma? The cause of esthesioneuroblastoma is currently unknown.
Source: GARD
Topic: Esthesioneuroblastoma
Question: How to diagnose Esthesioneuroblastoma ?
Answer: How is esthesioneuroblastoma diagnosed? Diagnosis is typically obtained through clinical examination, biopsy, and MRI and CT scans.
Source: GARD
Topic: Esthesioneuroblastoma
Question: What are the treatments for Esthesioneuroblastoma ?
Answer: How is esthesioneuroblastoma usually treated? Various treatment regimens for esthesioneuroblastoma have been used through the years. Early treatment included using either surgery or radiation therapy, but, for the most part, these regimens resulted in high rates of recurrence. Subsequently, multimodality therapy with surgery and radiation therapy has been more frequently administered, and some institutions recommend trimodality therapy, with the addition of chemotherapy to surgery and radiation therapy. Most patients are initially treated with surgical removal if possible. Radiation therapy is most commonly administered after surgical removal of the tumor. The role of chemotherapy for esthesioneuroblastoma remains poorly defined. Many institutions incorporate chemotherapy into the treatment regimen, especially for stage C disease, whereas others have not noted any substantial clinical response to chemotherapy.
Source: GARD
Topic: Polyembryoma
Question: What is (are) Polyembryoma ?
Answer: Polyembryoma is a type of tumor that develops from the cells of the gonads (testes in men or ovaries in women).  Such tumors are called germ cell tumors.  Polyembryomas have a distinctive look because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy.  Symptoms of a polyembryoma may include an unusual bump or mass in the abdomen which can cause pain in some individuals; puberty at an unusually young age (known as precocious puberty); or irregularities in a female's menstruation.  Treatment begins with surgery and may be followed by chemotherapy and/or radiation therapy.  The cause of polyembryoma is not yet known.
Source: GARD
Topic: Polyembryoma
Question: What are the treatments for Polyembryoma ?
Answer: How might polyembryoma be treated? Because polyembryomas are quite rare, there are no established guidelines for treating this condition.  However, the first step for treating a polyembryoma is often surgery to remove as much of the tumor as possible.  Chemotherapy, and sometimes radiation therapy, have also been used after surgery to destroy any cancer cells that may remain.
Source: GARD
Topic: Lattice corneal dystrophy type 3A
Question: What is (are) Lattice corneal dystrophy type 3A ?
Answer: Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. Lattice corneal dystrophy type 3A is caused by changes (mutations) in the TGFBI gene and is inherited in an autosomal dominant manner. The condition is usually treated surgically.
Source: GARD
Topic: Lattice corneal dystrophy type 3A
Question: What are the symptoms of Lattice corneal dystrophy type 3A ?
Answer: What are the signs and symptoms of Lattice corneal dystrophy type 3A? The Human Phenotype Ontology provides the following list of signs and symptoms for Lattice corneal dystrophy type 3A. If the information is available, the table below includes how often the symptom is seen in people with this condition. 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 - Corneal erosion - Lattice corneal dystrophy - Reduced visual acuity - Visual impairment - 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.
Source: GARD
Topic: Neuhauser Eichner Opitz syndrome
Question: What are the symptoms of Neuhauser Eichner Opitz syndrome ?
Answer: What are the signs and symptoms of Neuhauser Eichner Opitz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuhauser Eichner Opitz 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) Hypertonia 90% Incoordination 90% Abnormality of movement 50% Joint hypermobility 50% Babinski sign 30% Behavioral abnormality 7.5% Muscular hypotonia 7.5% Neurological speech impairment 7.5% Areflexia - Athetosis - Autosomal dominant inheritance - Choreoathetosis - Dysarthria - Intention tremor - Lethargy - Recurrent encephalopathy - Truncal ataxia - 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.
Source: GARD
Topic: Oto-palato-digital syndrome type 1
Question: What are the symptoms of Oto-palato-digital syndrome type 1 ?
Answer: What are the signs and symptoms of Oto-palato-digital syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Oto-palato-digital syndrome type 1. 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 nose 90% Cleft palate 90% Hearing impairment 90% Hypertelorism 90% Limitation of joint mobility 90% Prominent supraorbital ridges 90% Reduced number of teeth 90% Sandal gap 90% Short hallux 90% Abnormality of frontal sinus 50% Aplasia/Hypoplasia of the thumb 50% Bowing of the long bones 50% Brachydactyly syndrome 50% Craniofacial hyperostosis 50% Elbow dislocation 50% Increased bone mineral density 50% Proximal placement of thumb 50% Short distal phalanx of finger 50% Synostosis of carpal bones 7.5% Tarsal synostosis 7.5% Abnormality of the fifth metatarsal bone - Absent frontal sinuses - Accessory carpal bones - Bipartite calcaneus - Broad distal phalanx of the thumb - Broad hallux - Bulbous tips of toes - Capitate-hamate fusion - Conductive hearing impairment - Coxa valga - Delayed closure of the anterior fontanelle - Dislocated radial head - Flat face - Frontal bossing - Hip dislocation - Intellectual disability, mild - Lateral femoral bowing - Limited elbow extension - Limited knee flexion - Malar flattening - Multiple impacted teeth - Nail dysplasia - Nail dystrophy - Narrow mouth - Omphalocele - Pectus excavatum - Prominent occiput - Scoliosis - Selective tooth agenesis - Short 3rd metacarpal - Short 4th metacarpal - Short 5th metacarpal - Short nose - Short stature - Thick skull base - Toe syndactyly - Wide nasal bridge - X-linked dominant inheritance - 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.
Source: GARD
Topic: Liposarcoma
Question: What is (are) Liposarcoma ?
Answer: Liposarcoma is a tumor that arises from fat tissue.  This tumor often occurs in the thigh, behind the knee, or in the abdomen, but it can be found in other parts of the body.  Because a liposarcoma may grow into surrounding tissues or organs, it is considered a malignant tumor.
Source: GARD
Topic: Liposarcoma
Question: What are the treatments for Liposarcoma ?
Answer: How might liposarcoma be treated? The treatment for liposarcoma depends on the type, size, and location of the tumor.  Surgery to remove the tumor is often the first treatment.  When the tumor is in the abdomen, it may be difficult to remove completely, especially if the tumor is growing near important organs that cannot be removed.  If the entire tumor cannot be removed during surgery, radiation therapy may be used after surgery to kill any cancer cells that remain to reduce the chance of the tumor coming back (a recurrence).   Chemotherapy is another treatment that can kill remaining cancer cells following surgery, though it is not usually used to treat low-grade sarcomas.  Sometimes radiation therapy or chemotherapy may be done prior to surgery to shrink the tumor; this may increase the chance of removing the whole tumor during surgery while limiting the impact to other organs.
Source: GARD
Topic: Monoclonal mast cell activation syndrome
Question: What is (are) Monoclonal mast cell activation syndrome ?
Answer: Monoclonal mast cell activation syndrome (MMAS) is a rare immunological disorder characterized by recurrent episodes of allergy, flushing, stomach and intestinal cramping, diarrhea, wheezing, fatigue and a temporary loss of consciousness caused by a fall in blood pressure (hypotension). MMAS is very similar to systemic mastocytosis but without the itchy skin patches known as urticaria pigmentosa. Symptoms may be triggered by a number of factors, including eating, exertion, environmental conditions, emotional stress, or insect stings. It is caused by a very small change (mutation) in the KIT gene which results in a defect of the mast cells. Treatment may include antihistamines and other medications, as needed.
Source: GARD
Topic: Torg Winchester syndrome
Question: What are the symptoms of Torg Winchester syndrome ?
Answer: What are the signs and symptoms of Torg Winchester syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Torg Winchester 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) Arthropathy - Coarse facial features - Corneal opacity - Generalized osteoporosis - Gingival overgrowth - Osteolysis involving bones of the feet - Osteolysis involving bones of the upper limbs - 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.
Source: GARD
Topic: Megalocytic interstitial nephritis
Question: What is (are) Megalocytic interstitial nephritis ?
Answer: Megalocytic interstitial nephritis is a rare chronic kidney disease that is characterized by inflammation of the kidney. It is similar to malakoplakia of the kidney. In this condition the inflammation is caused by various infiltrate, particularly histiocytes. A histiocyte is a type of immune cell that eats foreign substances in an effort to protect the body from infection.
Source: GARD
Topic: Megalocytic interstitial nephritis
Question: What are the symptoms of Megalocytic interstitial nephritis ?
Answer: What are the symptoms of interstitial nephritis? Symptoms of interstitial nephritis may include blood in the urine, fever, increased or decreased urine output, mental status changes (drowsiness, confusion, coma), nausea, vomiting, rash, swelling of the body, and weight gain (from retaining fluid).
Source: GARD
Topic: Megalocytic interstitial nephritis
Question: What causes Megalocytic interstitial nephritis ?
Answer: What causes malakoplakia? The cause of malakoplakia is unknown, but is thought to be associated with immunodeficiency or autoimmune disorders, such as hypogammaglobinlinemia, therapies that suppress the immune system, cancer, a chronic debilitating disorder, rheumatoid arthritis, and AIDS.
Source: GARD
Topic: Familial hemiplegic migraine type 1
Question: What is (are) Familial hemiplegic migraine type 1 ?
Answer: Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and may last from a few hours to a few days. People with familial hemiplegic migraine experience an aura that comes before the headache. The most common symptoms associated with an aura are temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with familial hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). An aura typically develops gradually over a few minutes and lasts about an hour. Researchers have identified three forms of familial hemiplegic migraine known as FHM1, FHM2, and FHM3. Each of the three types is caused by mutations in a different gene.
Source: GARD
Topic: Familial hemiplegic migraine type 1
Question: What are the symptoms of Familial hemiplegic migraine type 1 ?
Answer: What are the signs and symptoms of Familial hemiplegic migraine type 1? The symptoms and severity can vary considerably among people with hemiplegic migraine. Signs and symptoms associated with aura may include: Visual disturbance (e.g. blind spots, flashing lights, zigzag pattern, and double vision) Sensory loss (e.g., numbness or paresthesias of the face or an extremity) Difficulty with speech (which usually occur along with right-sided weakness) Motor weakness involves areas affected by sensory symptoms and varies from mild clumsiness to complete deficit. Affected people may also experience neurologic symptoms such as confusion, drowsiness, impaired consciousness, coma, psychosis, and/or memory loss. Neurologic symptoms can last for hours to days. Attention and memory loss can last weeks to months. However, permanent motor, sensory, language, or visual symptoms are extremely rare. The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hemiplegic migraine type 1. 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 movement 90% Hemiplegia/hemiparesis 90% Incoordination 50% Nystagmus 50% Abnormality of retinal pigmentation 7.5% EEG abnormality 7.5% Neurological speech impairment 7.5% Sensorineural hearing impairment 7.5% Seizures 5% Tremor 5% Agitation - Anxiety - Ataxia - Auditory hallucinations - Autosomal dominant inheritance - Cerebellar atrophy - Coma - Confusion - Drowsiness - Dyscalculia - Dysphasia - Fever - Hemiparesis - Hemiplegia - Heterogeneous - Migraine with aura - Psychosis - Transient unilateral blurring of vision - 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.
Source: GARD