umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Ullrich congenital muscular dystrophy ?

Answer: What are the signs and symptoms of Ullrich congenital muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Ullrich congenital muscular dystrophy. 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 - Autosomal recessive inheritance - Congenital muscular dystrophy - Facial palsy - Failure to thrive - Feeding difficulties in infancy - Flexion contracture - Follicular hyperkeratosis - Generalized amyotrophy - High palate - Hip dislocation - Hyperextensibility at wrists - Hyperhidrosis - Increased laxity of ankles - Increased laxity of fingers - Increased variability in muscle fiber diameter - Infantile onset - Joint laxity - Kyphosis - Mildly elevated creatine phosphokinase - Motor delay - Muscle fiber necrosis - Neonatal hypotonia - Nocturnal hypoventilation - Progressive - Protruding ear - Proximal muscle weakness - Recurrent lower respiratory tract infections - Respiratory insufficiency due to muscle weakness - Round face - Scoliosis - Slender build - Spinal rigidity - Talipes equinovarus - Torticollis - Type 1 muscle fiber predominance - Variable expressivity - 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: How to diagnose Sickle Cell Disease ?

Answer: Screening Tests
                
People who do not know whether they make sickle hemoglobin (hemoglobin S) or another abnormal hemoglobin (such as C,  thalassemia, E) can find out by having their blood tested. This way, they can learn whether they carry a gene (i.e., have the trait) for an abnormal hemoglobin that they could pass on to a child.
                
When each parent has this information, he or she can be better informed about the chances of having a child with some type of sickle cell disease (SCD), such as hemoglobin SS, SC, S thalassemia, or others.
                
Newborn Screening
                
When a child has SCD, it is very important to diagnose it early to better prevent complications.
                
Every state in the United States, the District of Columbia, and the U.S. territories require that every baby is tested for SCD as part of a newborn screening program.
                
In newborn screening programs, blood from a heel prick is collected in spots on a special paper. The hemoglobin from this blood is then analyzed in special labs.
                
Newborn screening results are sent to the doctor who ordered the test and to the childs primary doctor.
                
If a baby is found to have SCD, health providers from a special follow-up newborn screening group contact the family directly to make sure that the parents know the results. The child is always retested to be sure that the diagnosis is correct.
                
Newborn screening programs also find out whether the baby has an abnormal hemoglobin trait. If so, parents are informed, and counseling is offered.
                
Remember that when a child has sickle cell trait or SCD, a future sibling, or the childs own future child, may be at risk. These possibilities should be discussed with the primary care doctor, a blood specialist called a hematologist, and/or a genetics counselor.
                
Prenatal Screening
                
Doctors can also diagnose SCD before a baby is born. This is done using a sample of amniotic fluid, the liquid in the sac surrounding a growing embryo, or tissue taken from the placenta, the organ that attaches the umbilical cord to the mothers womb.
                
Testing before birth can be done as early as 810 weeks into the pregnancy. This testing looks for the sickle hemoglobin gene rather than the abnormal hemoglobin.
Question: What are the complications of Crohn's Disease ?

Answer: Complications of Crohn's disease can include
                
- bowel obstruction. Crohn's disease can thicken the wall of the intestine. Over time, the thickened areas of the intestine can narrow, which can block the intestine. A partial or complete obstruction, also called a bowel blockage, can block the movement of food or stool through the intestines. A complete bowel obstruction is life threatening and requires immediate medical attention and often surgery.  - fistulasabnormal passages, or tunnels, between two organs, or between an organ and the outside of the body. How a health care provider treats fistulas depends on their type and severity. For some people, fistulas heal with medication and diet changes, while other people will need to have surgery.  - anal fissuressmall tears in the anus that may cause itching, pain, or bleeding. Most anal fissures heal with medical treatment, including ointments, warm baths, and dietary changes.  - ulcers. Inflammation anywhere along the GI tract can lead to ulcers or open sores in a person's mouth, intestines, anus, and perineumthe area between the anus and the sex organs. In most cases, the treatment a health care provider prescribes for Crohn's disease will also treat the ulcers.  - malnutritiona condition that develops when the body does not get the right amount of vitamins, minerals, and nutrients it needs to maintain healthy tissues and organ function. Some people may need IV fluids or feeding tubes to replace lost nutrients and fluids.  - inflammation in other areas of the body. The immune system can trigger inflammation in the      - joints    - eyes    - skin
                
Health care providers can treat inflammation by adjusting medications or prescribing new medications.
                

                
Crohn's Disease and Colon Cancer   People with Crohn's disease in the large intestine may be more likely to develop colon cancer. People who receive ongoing treatment and remain in remission may reduce their chances of developing colon cancer.   People with Crohn's disease should talk with their health care provider about how often they should get screened for colon cancer. Screening can include colonoscopy with biopsies. Such screening does not reduce a person's chances of developing colon cancer. Instead, screening can help diagnose cancer early and improve chances for recovery.
Question: What are the symptoms of Brachydactyly type B ?

Answer: What are the signs and symptoms of Brachydactyly type B? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type B. 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 metacarpal bones 90% Anonychia 90% Aplasia/Hypoplasia of the distal phalanges of the toes 90% Short distal phalanx of finger 90% Short toe 90% Abnormality of thumb phalanx 7.5% Preaxial foot polydactyly 7.5% Symphalangism affecting the phalanges of the hand 7.5% Synostosis of carpal bones 7.5% Cutaneous finger syndactyly 5% Abnormality of the foot - Aplasia/Hypoplasia of the distal phalanges of the hand - Autosomal dominant inheritance - Broad thumb - Camptodactyly - Delayed cranial suture closure - Delayed eruption of permanent teeth - Hemivertebrae - Hypoplastic sacrum - Joint contracture of the hand - Micropenis - Short long bone - Short middle phalanx of finger - Syndactyly - Thoracolumbar scoliosis - Type B brachydactyly - Ventricular septal defect - Vertebral fusion - Wide anterior fontanel - 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 Epidermolysis bullosa simplex, generalized ?

Answer: What are the signs and symptoms of Epidermolysis bullosa simplex, generalized? Epidermolysis bullosa simplex, generalized is associated with widespread blisters that appear at birth or in early infancy. While not a common feature of this type of epidermolysis bullosa, scarring may occasionally occur. There may also be mild involvement of the mucous membranes, fingernails and toenails. As individuals age, localized thickening of the skin on the soles of the feet and palms of the hands may occur.   The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa simplex, generalized. 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 blistering of the skin 90% Subcutaneous hemorrhage 90% Abnormal pattern of respiration 50% Abnormality of dental enamel 50% Abnormality of the nail 50% Hyperhidrosis 50% Ophthalmoparesis 50% Palmoplantar keratoderma 50% Ptosis 50% Fatigable weakness 7.5% Respiratory insufficiency 7.5% Milia 5% Nail dysplasia 5% Nail dystrophy 5% Autosomal dominant inheritance - Palmoplantar hyperkeratosis - 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 Campomelia Cumming type ?

Answer: What are the signs and symptoms of Campomelia Cumming type? The Human Phenotype Ontology provides the following list of signs and symptoms for Campomelia Cumming 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) Abnormality of the ribs 90% Bowing of the long bones 90% Brachydactyly syndrome 90% Cleft palate 90% Clubbing of toes 90% Cystic hygroma 90% Dolichocephaly 90% Micromelia 90% Multicystic kidney dysplasia 90% Oligohydramnios 90% Polycystic kidney dysplasia 90% Prematurely aged appearance 90% Skeletal dysplasia 90% Abnormal vertebral ossification 50% Aplasia/Hypoplasia of the lungs 50% Hepatomegaly 50% Hydrops fetalis 50% Sacrococcygeal pilonidal abnormality 50% Abnormality of the intestine 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Coarse facial features 7.5% Lymphedema 7.5% Autosomal recessive inheritance - Pancreatic cysts - Polycystic liver disease - Polysplenia - Short 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 is (are) coloboma ?

Answer: Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye, including the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or the optic nerves, which carry information from the eyes to the brain.  Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision. Colobomas affecting the iris, which result in a "keyhole" appearance of the pupil, generally do not lead to vision loss. Colobomas involving the retina result in vision loss in specific parts of the visual field, generally the upper part. Large retinal colobomas or those affecting the optic nerve can cause low vision, which means vision loss that cannot be completely corrected with glasses or contact lenses.  Some people with coloboma also have a condition called microphthalmia. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.  People with coloboma may also have other eye abnormalities, including clouding of the lens of the eye (cataract), increased pressure inside the eye (glaucoma) that can damage the optic nerve, vision problems such as nearsightedness (myopia), involuntary back-and-forth eye movements (nystagmus), or separation of the retina from the back of the eye (retinal detachment).  Some individuals have coloboma as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When coloboma occurs by itself, it is described as nonsyndromic or isolated.  Colobomas involving the eyeball should be distinguished from gaps that occur in the eyelids. While these eyelid gaps are also called colobomas, they arise from abnormalities in different structures during early development.
Question: What are the symptoms of Skin Cancer ?

Answer: Early Detection is Important When skin cancer is found early, it is more likely to be treated successfully. Therefore, it is important to know how to recognize the signs of skin cancer in order to improve the chances of early diagnosis. Most non-melanoma skin cancers (basal cell carcinoma and squamous cell carcinoma) can be cured if found and treated early. Skin Changes A change on the skin is the most common sign of skin cancer. This may be a new growth, a sore that doesn't heal, or a change in an old growth. Not all skin cancers look the same. Sometimes skin cancer is painful, but usually it is not. Checking your skin for new growths or other changes is a good idea. Keep in mind that changes are not a sure sign of skin cancer. Still, you should report any changes to your health care provider right away. You may need to see a dermatologist, a doctor who has special training in the diagnosis and treatment of skin problems. A Mole That is Bleeding Also see a doctor if a mole is bleeding or if more moles appear around the first one. Most of the time, these signs are not cancer. Sometimes, it is not even a mole. Still, it is important to check with a doctor so that any problems can be diagnosed and treated as early as possible. Don't ignore your symptoms because you think they are not important or because you believe they are normal for your age. Signs of Melanoma Melanoma skin cancer is more difficult to treat, so it is important to check for signs and seek treatment as soon as possible. Use the following ABCDE rule to remember the symptoms of melanoma. See a doctor if you have a mole, birthmark, or other pigmented area of skin with  A = Asymmetry. One half of the mole looks different than the other half. (top left image)  B = Border. The edges are often ragged, notched, or blurred in outline. The pigment may spread into the surrounding skin. (top right image)  C = Color. The mole is more than one color. Shades of black, brown, and tan may be present. Areas of white, gray, red, pink, or blue may also be seen.(bottom left image)   D = Diameter.There is a change in size, usually an increase. Melanomas can be tiny, but most are larger than the size of a pea (larger than 6 millimeters or about 1/4 inch). (bottom right image)   E = Evolving. The mole has changed over the past few weeks or months.
Question: What are the symptoms of Shapiro syndrome ?

Answer: What are the signs and symptoms of Shapiro syndrome? Shapiro syndrome generally consists of three findings: spontaneous periodic hypothermia, excessive sweating, and agenesis of the corpus callosum. However, there has been a documented case of a 4-year-old girl with Shapiro syndrome who did not have agenesis of the corpus callosum. Additionally, there have been some patients who also produce excessive amounts of urine  (polyuria) and have experienced excessive thirst (polydipsia).  Given that some people with Shapiro syndrome do not respond well to the various treatment options available for the condition, the symptoms may worsen with time for some people.   The Human Phenotype Ontology provides the following list of signs and symptoms for Shapiro 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) Gait disturbance 90% Hyperhidrosis 90% Hypothermia 90% Incoordination 90% Nausea and vomiting 90% Pallor 90% Arrhythmia 50% Reduced consciousness/confusion 50% Seizures 50% Sleep disturbance 50% Tremor 50% Abnormal pattern of respiration 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Diarrhea 7.5% Skin rash 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 Juvenile Huntington disease ?

Answer: What are the signs and symptoms of Juvenile Huntington disease? A common sign of juvenile HD is a rapid decline in school performance. Symptoms can also include subtle changes in handwriting and slight problems with movement, such as slowness, rigidity, tremor, and rapid muscular twitching, called myoclonus. Several of these symptoms are similar to those seen in Parkinson's disease, and they differ from the chorea seen in individuals who develop the disease as adults. People with juvenile HD may also have seizures and mental disabilities. The earlier the onset, the faster the disease seems to progress. The disease progresses most rapidly in individuals with juvenile or early-onset HD, and death often follows within 10 years. The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile Huntington disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 50% Abnormality of the voice 50% Behavioral abnormality 50% Cerebral cortical atrophy 50% Developmental regression 50% EEG abnormality 50% Hypertonia 50% Rigidity 7.5% Abnormality of eye movement - Autosomal dominant inheritance - Bradykinesia - Chorea - Dementia - Depression - Gliosis - Hyperreflexia - Neuronal loss in central nervous system - Personality changes - 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.