sarnsrun/medquadmini huggingface dataset:
Question:
What are the symptoms of Smith McCort dysplasia ?

Answer:
What are the signs and symptoms of Smith McCort dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Smith McCort dysplasia. 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) Atlantoaxial instability - Autosomal recessive inheritance - Barrel-shaped chest - Beaking of vertebral bodies - Deformed sella turcica - Delayed femoral head ossification - Disproportionate short-trunk short stature - Dolichocephaly - Genu valgum - Genu varum - Hypoplasia of the odontoid process - Hypoplastic acetabulae - Hypoplastic facial bones - Hypoplastic scapulae - Irregular epiphyses - Kyphosis - Metaphyseal irregularity - Microcephaly - Multicentric femoral head ossification - Platyspondyly - Prominent sternum - Scoliosis - Short metacarpal - Short phalanx of finger - Waddling gait - 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 Bantu siderosis ?

Answer:
What are the signs and symptoms of Bantu siderosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Bantu siderosis. 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) Elevated transferrin saturation - 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 Deafness, X-linked 2 ?

Answer:
What are the signs and symptoms of Deafness, X-linked 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, X-linked 2. 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) Conductive hearing impairment - Dilatated internal auditory canal - Progressive sensorineural hearing impairment - Stapes ankylosis - 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.
Question:
What are the symptoms of Genu valgum, st Helena familial ?

Answer:
What are the signs and symptoms of Genu valgum, st Helena familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Genu valgum, st Helena familial. 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 - Genu valgum - 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 IVIC syndrome ?

Answer:
What are the signs and symptoms of IVIC syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for IVIC 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) Hearing impairment 90% Limitation of joint mobility 90% Short stature 90% Strabismus 90% Abnormal dermatoglyphics 50% Aplasia/Hypoplasia of the thumb 50% Radioulnar synostosis 50% Scoliosis 50% Synostosis of carpal bones 50% Triphalangeal thumb 50% Abnormality of the clavicle 7.5% Arrhythmia 7.5% Leukocytosis 7.5% Preaxial hand polydactyly 7.5% Thrombocytopenia 7.5% Urogenital fistula 7.5% Absent thumb - Anal atresia - Autosomal dominant inheritance - Carpal bone hypoplasia - Carpal synostosis - External ophthalmoplegia - Hypoplasia of deltoid muscle - Hypoplasia of the radius - Intestinal malrotation - Limited elbow movement - Limited interphalangeal movement - Limited wrist movement - Pectoralis major hypoplasia - Phenotypic variability - Rectovaginal fistula - Short 1st metacarpal - Small thenar eminence - 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) Hypochondroplasia ?

Answer:
Hypochondroplasia is a form dwarfism that affects the conversion of cartilage into bone, particularly in the long bones of the arms and legs. Hypochondroplasia is similar to achondroplasia, but the features tend to be milder. People with this condtion usually have short arms and legs and broad, short hands and feet. Other features include a large head, limited range of motion in the elbows, lordosis, and bowed legs. Hypochondroplasia is caused by mutations in the FGFR3 gene and is inherited in an autosomal dominant fashion.
Question:
What are the symptoms of Hypochondroplasia ?

Answer:
What are the signs and symptoms of Hypochondroplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypochondroplasia. 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 form of the vertebral bodies 90% Brachydactyly syndrome 90% Micromelia 90% Short stature 90% Short toe 90% Skeletal dysplasia 90% Abnormality of pelvic girdle bone morphology 50% Abnormality of the elbow 50% Abnormality of the femur 50% Genu varum 50% Joint hypermobility 50% Apnea 7.5% Cognitive impairment 7.5% Hyperlordosis 7.5% Intellectual disability 7.5% Macrocephaly 7.5% Osteoarthritis 7.5% Scoliosis 7.5% Spinal canal stenosis 7.5% Aplasia/hypoplasia of the extremities - Autosomal dominant inheritance - Childhood onset short-limb short stature - Flared metaphysis - Frontal bossing - Limited elbow extension - Lumbar hyperlordosis - Malar flattening - Short long bone - 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 treatments for Hypochondroplasia ?

Answer:
How might hypochondroplasia be treated? The evaluation of children with hypochondroplasia usually does not differ significantly from the evaluation of children with normal stature, except for genetic counseling issues (such as risk of recurrence) and dealing with parental concerns about short stature. Management of short stature may be influenced by the concerns and expectations of the parents. One reasonable approach is to address the parents' concerns about the height of their child rather than attempting to treat the child. Developmental intervention and special education may be appropriate, if it is indicated in the affected individual. If spinal stenosis (narrowing of the spine) is present, a procedure called a laminectomy may be considered. This is a type of surgery that can take pressure off the spinal nerves or spinal canal. However, one study found that about 70% of symptomatic individuals with achondroplasia experienced total relief of symptoms following decompression, without having a laminectomy. Decompression is a less invasive procedure. Support groups can help the affected individual and the family adapt to short stature through peer support, personal example, and social awareness programs. Support groups may offer information on employment, education, disability rights, adoption of children of short stature, medical issues, suitable clothing, adaptive devices, and parenting through local meetings, workshops and seminars. To see the contact information for several support groups for hypochondroplasia, click here. Sometimes, for individuals with hypochondroplasia who are more severely affected, the features may overlap with those of achondroplasia. In these cases, recommendations for the management of achondroplasia (outlined by the American Academy of Pediatrics Committee on Genetics) may be considered. The full report on these recommendations may be viewed here. For a more limited description of management of achondroplasia on our Web site, click here.
Question:
What is (are) Pustular psoriasis ?

Answer:
Pustular psoriasis is a rare form of psoriasis that is characterized by widespread pustules and reddish skin. This condition can occur alone or with plaque-type psoriasis. Most cases of pustular psoriasis are thought to be "multifactorial" or associated with the effects of multiple genes in combination with lifestyle and environmental factors. There are several triggers for this conditions including withdrawal from corticosteroids, exposure to various medications and/or infections. Some cases of the generalized form are caused by changes (mutations) in the IL36RN gene and are inherited in an autosomal recessive pattern. In severe cases, hospitalization may be required. Treatment aims to alleviate the associated symptoms and may include certain medications and/or phototherapy.
Question:
What are the symptoms of Localized lipodystrophy ?

Answer:
What are the signs and symptoms of Localized lipodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Localized lipodystrophy. 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 adipose tissue 90% Cellulitis 90% 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 Myelocerebellar disorder ?

Answer:
What are the signs and symptoms of Myelocerebellar disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Myelocerebellar disorder. 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) Aplasia/Hypoplasia of the cerebellum 90% Gait disturbance 90% Incoordination 90% Abnormality of macrophages 50% Abnormality of neutrophils 50% Acute leukemia 50% Anemia 50% Hyperreflexia 50% Neurological speech impairment 50% Nystagmus 50% Recurrent respiratory infections 50% Splenomegaly 50% Abnormality of thrombocytes 7.5% Decreased antibody level in blood 7.5% Microcephaly 7.5% Acute myelomonocytic leukemia - Ataxia - Autosomal dominant inheritance - Cerebellar atrophy - Decreased nerve conduction velocity - Dysmetria - Hyperactive deep tendon reflexes - Hypoplastic anemia - Impaired vibration sensation in the lower limbs - Pancytopenia - Unsteady gait - 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) Hepatic lipase deficiency ?

Answer:
Hepatic lipase deficiency is a rare condition that is characterized by increased levels of certain fats (known as triglycerides and cholesterol) in the blood. Affected people may also have increased levels of high-density lipoproteins (HDLs) and decreased levels of low-density lipoproteins (LDLs), which are two molecules that help transport fats throughout the body. Hepatic lipase deficiency may be associated with an increased risk of developing atherosclerosis and/or heart disease; however, additional research is needed on the long-term outlook of people with this condition. Hepatic lipase deficiency is caused by changes (mutations) in the LIPC gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
Question:
What are the symptoms of Hepatic lipase deficiency ?

Answer:
What are the signs and symptoms of Hepatic lipase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatic lipase 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) Angina pectoris - Autosomal recessive inheritance - Eruptive xanthomas - 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) Alpha-1 antitrypsin deficiency ?

Answer:
Alpha-1 antitrypsin deficiency (AATD) is a disorder that causes a deficiency or absence of the alpha-1 antitrypsin (AAT) protein in the blood. AAT is made in the liver and sent through the bloodstream to the lungs, to protect the lungs from damage. Having low levels of ATT (or no ATT) can allow the lungs to become damaged, making breathing hard. Age of onset and severity of AATD can vary based on how much ATT an affected person is missing. In adults, symptoms may include shortness of breath; reduced ability to exercise; wheezing; respiratory infections; fatigue; vision problems; and weight loss. Some people have chronic obstructive pulmonary disease (COPD) or asthma. Liver disease (cirrhosis) may occur in affected children or adults. Rarely, AATD can cause a skin condition called panniculitis. AATD is caused by mutations in the SERPINA1 gene and is inherited in a codominant manner. Treatment is based on each person's symptoms and may include bronchodilators; antibiotics for upper respiratory tract infections; intravenous therapy of AAT; and/or lung transplantation in severe cases.
Question:
What are the symptoms of Alpha-1 antitrypsin deficiency ?

Answer:
What are the signs and symptoms of Alpha-1 antitrypsin deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-1 antitrypsin 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) Emphysema 90% Hepatic failure 90% Hepatomegaly 50% Nephrotic syndrome 7.5% Cirrhosis 5% Autosomal recessive inheritance - Chronic obstructive pulmonary disease - Elevated hepatic transaminases - Hepatocellular carcinoma - 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 causes Alpha-1 antitrypsin deficiency ?

Answer:
What causes alpha-1 antitrypsin deficiency? Alpha-1 antitrypsin deficiency (AATD) is caused by mutations in the SERPINA1 gene. This gene gives the body instructions to make a protein called alpha-1 antitrypsin (AAT), which protects the body from an enzyme called neutrophil elastase. Neutrophil elastase helps the body fight infections, but it can also attack healthy tissues (especially the lungs) if not controlled by AAT. Mutations that cause AAT can cause a deficiency or absence of AAT, or a form of AAT that does not work well. This allows neutrophil elastase to destroy lung tissue, causing lung disease. In addition, abnormal AAT can build up in the liver and cause damage to the liver. The severity of AATD may also be worsened by environmental factors such as exposure to tobacco smoke, dust, and chemicals.