umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Osteoporosis-pseudoglioma syndrome ?

Answer: What are the signs and symptoms of Osteoporosis-pseudoglioma syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteoporosis-pseudoglioma 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) Abnormal form of the vertebral bodies 90% Aplasia/Hypoplasia affecting the eye 90% Bowing of the long bones 90% Cataract 90% Delayed skeletal maturation 90% Joint hypermobility 90% Muscular hypotonia 90% Recurrent fractures 90% Reduced bone mineral density 90% Visual impairment 90% Abnormality of the pupil 50% Cognitive impairment 50% Short stature 50% Abnormal hair quantity 7.5% Depressed nasal bridge 7.5% Kyphosis 7.5% Low posterior hairline 7.5% Obesity 7.5% Optic atrophy 7.5% Absent anterior eye chamber - Autosomal recessive inheritance - Barrel-shaped chest - Blindness - Glioma - Intellectual disability, mild - Iris atrophy - Kyphoscoliosis - Metaphyseal widening - Microcephaly - Microphthalmia - Osteoporosis - Pathologic fracture - Phthisis bulbi - Platyspondyly - Ventricular septal defect - Vitreoretinopathy - 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) Diamond-Blackfan anemia ?

Answer: Diamond-Blackfan anemia is a disorder of the bone marrow. The major function of bone marrow is to produce new blood cells. In Diamond-Blackfan anemia, the bone marrow malfunctions and fails to make enough red blood cells, which carry oxygen to the body's tissues. The resulting shortage of red blood cells (anemia) usually becomes apparent during the first year of life. Symptoms of anemia include fatigue, weakness, and an abnormally pale appearance (pallor).  People with Diamond-Blackfan anemia have an increased risk of several serious complications related to their malfunctioning bone marrow. Specifically, they have a higher-than-average chance of developing myelodysplastic syndrome (MDS), which is a disorder in which immature blood cells fail to develop normally. Affected individuals also have an increased risk of developing certain cancers, including a cancer of blood-forming tissue known as acute myeloid leukemia (AML) and a type of bone cancer called osteosarcoma.  Approximately half of individuals with Diamond-Blackfan anemia have physical abnormalities. They may have an unusually small head size (microcephaly) and a low frontal hairline, along with distinctive facial features such as wide-set eyes (hypertelorism); droopy eyelids (ptosis); a broad, flat bridge of the nose; small, low-set ears; and a small lower jaw (micrognathia). Affected individuals may also have an opening in the roof of the mouth (cleft palate) with or without a split in the upper lip (cleft lip). They may have a short, webbed neck; shoulder blades which are smaller and higher than usual; and abnormalities of their hands, most commonly malformed or absent thumbs. About one-third of affected individuals have slow growth leading to short stature.  Other features of Diamond-Blackfan anemia may include eye problems such as clouding of the lens of the eyes (cataracts), increased pressure in the eyes (glaucoma), or eyes that do not look in the same direction (strabismus). Affected individuals may also have kidney abnormalities; structural defects of the heart; and, in males, the opening of the urethra on the underside of the penis (hypospadias).  The severity of Diamond-Blackfan anemia may vary, even within the same family. Increasingly, individuals with "non-classical" Diamond-Blackfan anemia have been identified. This form of the disorder typically has less severe symptoms that may include mild anemia beginning in adulthood.
Question: How to diagnose Mineral and Bone Disorder in Chronic Kidney Disease ?

Answer: A health care provider diagnoses mineral and bone disorder in CKD with
                
- a family and medical history  - a physical exam  - a blood test  - a bone biopsy  - an x-ray
                
Family and Medical History
                
Taking a medical and family history is one of the first things a health care provider may do to help diagnose mineral and bone disorder in CKD. He or she will ask the patient or caretaker questions about when the patient was first diagnosed with CKD and whether any family members have also had mineral and bone disorder with or without CKD.
                
Physical Exam
                
A physical exam may help diagnose mineral and bone disorder in CKD. During a physical exam, a health care provider usually examines a patients body for changes in bone structure.
                
Blood Test
                
A blood test involves drawing blood at a health care providers office or a commercial facility and sending the sample to a lab for analysis. The blood test shows levels of calcium, phosphorus, parathyroid hormone, and sometimes vitamin D.
                
Bone Biopsy
                
A bone biopsy is a procedure that removes a piece of bone tissue for examination with a microscope. A health care provider performs the biopsy in a hospital with light sedation and local anesthetic. The health care provider uses imaging techniques such as ultrasound or a computerized tomography scan to guide the biopsy needle into the hip bone. A pathologista doctor who specializes in diagnosing diseasesexamines the bone tissue in a lab. The test can show whether a persons bone cells are building normal bone.
                
X-ray
                
An x-ray is a picture created by using radiation and recorded on film or on a computer. The amount of radiation used is small. A radiographer performs the x-ray at a hospital or an outpatient center, and a radiologista doctor who specializes in medical imaginginterprets the images. Patients do not need anesthesia. The patient will lie on a table or stand during the x-ray. The technician will position the x-ray machine over the bone area. The patient will hold his or her breath as the x-ray machine takes the picture so that the picture will not be blurry. The radiographer may ask the patient to change position for additional pictures. An x-ray can show extra calcium in blood vessels.
                
Each of these tests can help the health care provider determine whether CKD or some other condition is causing the mineral and bone disorder and decide on a course of treatment.
Question: What are the symptoms of Potassium aggravated myotonia ?

Answer: What are the signs and symptoms of Potassium aggravated myotonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Potassium aggravated myotonia. 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) EMG abnormality 90% Flexion contracture 90% Hypertonia 90% Myalgia 90% Myotonia 90% Chest pain 50% Feeding difficulties in infancy 50% Gait disturbance 50% Abnormality of the nose 7.5% Abnormality of the voice 7.5% Asthma 7.5% Cognitive impairment 7.5% Elevated serum creatine phosphokinase 7.5% Epicanthus 7.5% Hyperkalemia 7.5% Hyperlordosis 7.5% Hypothyroidism 7.5% Limitation of joint mobility 7.5% Long philtrum 7.5% Muscle weakness 7.5% Muscular edema 7.5% Myopathy 7.5% Ophthalmoparesis 7.5% Paresthesia 7.5% Respiratory insufficiency 7.5% Short neck 7.5% Short stature 7.5% Skeletal muscle atrophy 7.5% Skeletal muscle hypertrophy 7.5% Apneic episodes in infancy - Autosomal dominant inheritance - Muscle stiffness - Stridor - 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 Intellectual disability - athetosis - microphthalmia ?

Answer: What are the signs and symptoms of Intellectual disability - athetosis - microphthalmia? The Human Phenotype Ontology provides the following list of signs and symptoms for Intellectual disability - athetosis - microphthalmia. 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% Abnormality of thumb phalanx 90% Broad forehead 90% Chin dimple 90% Cognitive impairment 90% Facial cleft 90% Frontal bossing 90% Hypertelorism 90% Hypertonia 90% Hypoplasia of the ear cartilage 90% Large earlobe 90% Malar flattening 90% Microcephaly 90% Reduced number of teeth 90% Scoliosis 90% Single transverse palmar crease 90% Supernumerary nipple 90% Telecanthus 90% Abnormality of the palate 50% Abnormality of the thorax 50% Aplasia/Hypoplasia affecting the eye 50% Blue sclerae 50% Camptodactyly of finger 50% Facial asymmetry 50% Iris coloboma 50% Lip pit 50% Mandibular prognathia 50% Preauricular skin tag 50% Seizures 50% Strabismus 50% Tapered finger 50% 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 Hereditary multiple osteochondromas ?

Answer: What are the signs and symptoms of Hereditary multiple osteochondromas? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary multiple osteochondromas. 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 humerus 90% Abnormality of the tibia 90% Abnormality of the femur 50% Abnormality of the metaphyses 50% Abnormality of the teeth 50% Abnormality of the ulna 50% Anteverted nares 50% Aplasia/Hypoplasia of the radius 50% Aseptic necrosis 50% Bone pain 50% Chondrocalcinosis 50% Cranial nerve paralysis 50% Exostoses 50% Genu valgum 50% Madelung deformity 50% Micromelia 50% Muscle weakness 50% Short stature 50% Abnormal pyramidal signs 7.5% Abnormality of pelvic girdle bone morphology 7.5% Abnormality of the pericardium 7.5% Aneurysm 7.5% Elbow dislocation 7.5% Hemiplegia/hemiparesis 7.5% Osteoarthritis 7.5% Osteolysis 7.5% Recurrent fractures 7.5% Scoliosis 7.5% Synostosis of joints 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 are the symptoms of Ehlers-Danlos-like syndrome due to tenascin-X deficiency ?

Answer: What are the signs and symptoms of Ehlers-Danlos-like syndrome due to tenascin-X deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos-like syndrome due to tenascin-X 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) Bruising susceptibility 90% Hyperextensible skin 90% Joint hypermobility 90% Arthralgia 50% Joint dislocation 50% Muscle weakness 50% Muscular hypotonia 50% Myalgia 50% Peripheral neuropathy 50% Skeletal muscle atrophy 50% Thin skin 50% Abnormality of the mitral valve 7.5% Arrhythmia 7.5% Atherosclerosis 7.5% Cerebral ischemia 7.5% Gastrointestinal hemorrhage 7.5% Hypercortisolism 7.5% Spina bifida occulta 7.5% Increased connective tissue 5% Muscle fiber splitting 5% Proximal amyotrophy 5% Proximal muscle weakness 5% Ambiguous genitalia, female - Autosomal recessive inheritance - Bicornuate uterus - Hiatus hernia - Mitral valve prolapse - Soft skin - Vesicoureteral reflux - 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) Fraser syndrome ?

Answer: Fraser syndrome is a rare disorder that affects development starting before birth. Characteristic features of this condition include eyes that are completely covered by skin and usually malformed (cryptophthalmos), fusion of the skin between the fingers and toes (cutaneous syndactyly), and abnormalities of the genitalia and the urinary tract (genitourinary anomalies). Other tissues and organs can also be affected. Depending on the severity of the signs and symptoms, Fraser syndrome can be fatal before or shortly after birth; less severely affected individuals can live into childhood or adulthood.  Cryptophthalmos is the most common abnormality in people with Fraser syndrome. Both eyes are usually completely covered by skin, but in some cases, only one eye is covered or one or both eyes are partially covered. In cryptophthalmos, the eyes can also be malformed; for example, the eyeballs may be fused to the skin covering them, or they may be small (microphthalmia) or missing (anophthalmia). Eye abnormalities typically lead to impairment or loss of vision in people with Fraser syndrome. Affected individuals can have other problems related to abnormal eye development, including missing eyebrows or eyelashes or a patch of hair extending from the side hairline to the eyebrow.  Cutaneous syndactyly typically occurs in both the hands and the feet in Fraser syndrome. In most people with this feature, the skin between the middle three fingers and toes are fused, but the other digits can also be involved. Other abnormalities of the hands and feet can occur in people with Fraser syndrome.  Individuals with Fraser syndrome can have abnormalities of the genitalia, such as an enlarged clitoris in females or undescended testes (cryptorchidism) in males. Some affected individuals have external genitalia that do not appear clearly female or male (ambiguous genitalia).  The most common urinary tract abnormality in Fraser syndrome is the absence of one or both kidneys (renal agenesis). Affected individuals can have other kidney problems or abnormalities of the bladder and other parts of the urinary tract.  A variety of other signs and symptoms can be involved in Fraser syndrome, including heart malformations or abnormalities of the voicebox (larynx) or other parts of the respiratory tract. Some affected individuals have facial abnormalities, including ear or nose abnormalities or an opening in the upper lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate).
Question: what research (or clinical trials) is being done for Adult Acute Myeloid Leukemia ?

Answer: New types of treatment are being tested in clinical trials.
				                    This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website.     Targeted therapy     Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Monoclonal antibody therapy is one type of targeted therapy being studied in the treatment of adult AML.    Monoclonal antibody therapy is a cancer treatment that uses antibodies made in the laboratory from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells.
				                
				                
				                    Patients may want to think about taking part in a clinical trial.
				                    For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment.   Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment.   Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.
				                
				                
				                    Patients can enter clinical trials before, during, or after starting their cancer treatment.
				                    Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment.   Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.
Question: What are the symptoms of Stickler syndrome type 1 ?

Answer: What are the signs and symptoms of Stickler syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Stickler 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 vitreous humor 90% Cataract 90% Long philtrum 90% Myopia 90% Retinal detachment 90% Short nose 90% Skeletal dysplasia 90% Abnormality of the mitral valve 50% Abnormality of vertebral epiphysis morphology 50% Arthralgia 50% Cleft palate 50% Disproportionate tall stature 50% Joint hypermobility 50% Osteoarthritis 50% Platyspondyly 50% Proptosis 50% Sensorineural hearing impairment 50% Cognitive impairment 7.5% Conductive hearing impairment 7.5% Visual impairment 7.5% Anteverted nares - Arachnodactyly - Arthropathy - Autosomal dominant inheritance - Beaking of vertebral bodies - Blindness - Depressed nasal bridge - Flat midface - Glaucoma - Irregular femoral epiphysis - Kyphosis - Malar flattening - Mitral valve prolapse - Pectus excavatum - Pierre-Robin sequence - Scoliosis - Spondyloepiphyseal dysplasia - 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.