umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Multiple epiphyseal dysplasia 2 ?

Answer: What are the signs and symptoms of Multiple epiphyseal dysplasia 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia 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) Abnormality of epiphysis morphology 90% Osteoarthritis 90% Abnormality of the hip bone 50% Arthralgia 50% Gait disturbance 50% Limitation of joint mobility 50% Micromelia 50% Short stature 50% Genu valgum 7.5% Genu varum 7.5% Autosomal dominant inheritance - Epiphyseal dysplasia - Flattened epiphysis - Irregular epiphyses - Knee osteoarthritis - Mild short stature - Short palm - 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 XK aprosencephaly ?

Answer: What are the signs and symptoms of XK aprosencephaly? The Human Phenotype Ontology provides the following list of signs and symptoms for XK aprosencephaly. 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 affecting the eye 90% Microcephaly 90% Narrow mouth 90% Abnormality of the gastrointestinal tract 50% Abnormality of the genital system 50% Abnormality of the pharynx 50% Absent nares 50% Aplasia/Hypoplasia of the radius 50% Atria septal defect 7.5% Hypotelorism 7.5% Polyhydramnios 7.5% Ventricular septal defect 7.5% Anencephaly - Aprosencephaly - Autosomal recessive inheritance - Oligodactyly (hands) - 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 Pseudohypoaldosteronism type 2 ?

Answer: What are the signs and symptoms of Pseudohypoaldosteronism type 2? The most common symptom of pseudohypoaldosteronism type 2 is high blood pressure in adolescents or young adults. In its most severe form, it is associated with muscle weakness, short stature, and intellectual impairment. The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoaldosteronism type 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) Hyperkalemia 90% Hypertension 90% Flexion contracture 50% Nausea and vomiting 50% Abnormality of dental enamel 7.5% Muscle weakness 7.5% Short stature 7.5% Autosomal dominant inheritance - Hyperchloremic acidosis - Periodic hyperkalemic paralysis - Pseudohypoaldosteronism - 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, lethal acantholytic ?

Answer: What are the signs and symptoms of Epidermolysis bullosa, lethal acantholytic? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa, lethal acantholytic. 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% Advanced eruption of teeth 90% Alopecia 90% Anonychia 90% Skin ulcer 90% Abnormality of the gastric mucosa 7.5% Hypertrophic cardiomyopathy 7.5% Acantholysis - Autosomal recessive inheritance - Mitten deformity - Natal tooth - Neonatal death - Phimosis - Sandal gap - Skin erosion - Tapered distal phalanges of finger - Widely spaced toes - 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) Neurosyphilis ?

Answer: Neurosyphilis is a disease of the coverings of the brain, the brain itself, or the spinal cord. It can occur in people with syphilis, especially if they are left untreated. Neurosyphilis is different from syphilis because it affects the nervous system, while syphilis is a sexually transmitted disease with different signs and symptoms. There are five types of neurosyphilis:
                
- asymptomatic neurosyphilis - meningeal neurosyphilis - meningovascular neurosyphilis - general paresis, and - tabes dorsalis.
                
Asymptomatic neurosyphilis means that neurosyphilis is present, but the individual reports no symptoms and does not feel sick. Meningeal syphilis can occur between the first few weeks to the first few years of getting syphilis. Individuals with meningeal syphilis can have headache, stiff neck, nausea, and vomiting. Sometimes there can also be loss of vision or hearing. Meningovascular syphilis causes the same symptoms as meningeal syphilis but affected individuals also have strokes. This form of neurosyphilis can occur within the first few months to several years after infection. General paresis can occur between 3  30 years after getting syphilis. People with general paresis can have personality or mood changes. Tabes dorsalis is characterized by pains in the limbs or abdomen, failure of muscle coordination, and bladder disturbances. Other signs include vision loss, loss of reflexes and loss of sense of vibration, poor gait, and impaired balance. Tabes dorsalis can occur anywhere from 5  50 years after initial syphilis infection. General paresis and tabes dorsalis are now less common than the other forms of neurosyphilis because of advances made in prevention, screening, and treatment. People with HIV/AIDS are at higher risk of having neurosyphilis.
Question: What are the symptoms of Auriculo-condylar syndrome ?

Answer: What are the signs and symptoms of Auriculo-condylar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Auriculo-condylar 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) Narrow mouth 52% Glossoptosis 46% Stenosis of the external auditory canal 30% Anterior open-bite malocclusion - Apnea - Autosomal dominant inheritance - Chewing difficulties - Cleft at the superior portion of the pinna - Cleft palate - Cupped ear - Dental crowding - Dental malocclusion - Hypoplastic superior helix - Low-set ears - Macrocephaly - Mandibular condyle aplasia - Mandibular condyle hypoplasia - Overfolding of the superior helices - Postauricular skin tag - Posteriorly rotated ears - Preauricular skin tag - Round face - Speech articulation difficulties - 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 Muscular dystrophy, congenital, merosin-positive ?

Answer: What are the signs and symptoms of Muscular dystrophy, congenital, merosin-positive? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular dystrophy, congenital, merosin-positive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Congenital muscular dystrophy - Congenital onset - Decreased fetal movement - Facial palsy - Flexion contracture - Increased variability in muscle fiber diameter - Joint laxity - Mildly elevated creatine phosphokinase - Myopathy - Neck muscle weakness - Neonatal hypotonia - Proximal muscle weakness - Respiratory insufficiency due to muscle weakness - Scoliosis - Shoulder girdle muscle weakness - 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: What are the symptoms of Lymphocytic vasculitis ?

Answer: What are the signs and symptoms of Lymphocytic vasculitis? Lymphocytic vasculitis can cause a number of different symptoms.  Hives, red or purplish discolored patches, a bump (nodule), or an open sore (ulcer) have all been described as symptoms of this condition.  The size, location, and severity of symptoms varies widely among affected individuals.  Additional symptoms may occur if the vasculitis also affects internal organs; this is known as systemic vasculitis.  The symptoms of systemic vasculitis depend on which organs are affected and to what degree. The Human Phenotype Ontology provides the following list of signs and symptoms for Lymphocytic vasculitis. 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 metabolism/homeostasis - Autosomal dominant inheritance - Nodular inflammatory vasculitis - 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 Carney triad ?

Answer: What are the signs and symptoms of Carney triad? The Human Phenotype Ontology provides the following list of signs and symptoms for Carney triad. 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) Abdominal pain 90% Diarrhea 90% Gastrointestinal hemorrhage 90% Nausea and vomiting 90% Neoplasm of the lung 90% Neoplasm of the stomach 90% Neuroendocrine neoplasm 90% Sarcoma 90% Abnormality of the liver 50% Abnormality of the mediastinum 50% Ascites 50% Hypercortisolism 50% Anemia 7.5% Anorexia 7.5% Arrhythmia 7.5% Hypertension 7.5% Lymphadenopathy 7.5% Migraine 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 Progressive hemifacial atrophy ?

Answer: What are the signs and symptoms of Progressive hemifacial atrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive hemifacial atrophy. 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) Irregular hyperpigmentation 90% Abnormality of the musculature 50% Aplasia/Hypoplasia of the skin 50% Asymmetric growth 50% Seizures 50% Deeply set eye 7.5% Heterochromia iridis 7.5% Ptosis 7.5% Alopecia areata - Ataxia - Blepharophimosis - Delayed eruption of teeth - Dental malocclusion - Hemifacial atrophy - Horner syndrome - Kyphosis - Microtia - Migraine - Onset - Poliosis - Short mandibular rami - Sporadic - Trigeminal neuralgia - 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 Karak syndrome ?

Answer: What are the signs and symptoms of Karak syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Karak 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) Autosomal recessive inheritance - Babinski sign - Bradykinesia - Cerebellar atrophy - Cerebral atrophy - Chorea - Delayed speech and language development - Dysarthria - Dysdiadochokinesis - Dysmetria - Dysphagia - Dystonia - Emotional lability - Feeding difficulties - Gait ataxia - Hyperactivity - Impaired smooth pursuit - Impulsivity - Intention tremor - Mental deterioration - Neurodegeneration - Neurofibrillary tangles - Nystagmus - Optic atrophy - Phenotypic variability - Progressive - Seizures - Short attention span - Spasticity - Talipes calcaneovalgus - 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) Myopathy ?

Answer: The myopathies are neuromuscular disorders in which the primary symptom is muscle weakness due to dysfunction of muscle fiber. Other symptoms of myopathy can include include muscle cramps, stiffness, and spasm. Myopathies can be inherited (such as the muscular dystrophies) or acquired (such as common muscle cramps). Myopathies are grouped as follows: congenital myopathies: characterized by developmental delays in motor skills; skeletal and facial abnormalities are occasionally evident at birth muscular dystrophies: characterized by progressive weakness in voluntary muscles; sometimes evident at birth mitochondrial myopathies: caused by genetic abnormalities in mitochondria, cellular structures that control energy; include Kearns-Sayre syndrome, MELAS and MERRF glycogen storage diseases of muscle: caused by mutations in genes controlling enzymes that metabolize glycogen and glucose (blood sugar); include Pompe's, Andersen's and Cori's diseases myoglobinurias: caused by disorders in the metabolism of a fuel (myoglobin) necessary for muscle work; include McArdle, Tarui, and DiMauro diseases dermatomyositis: an inflammatory myopathy of skin and muscle myositis ossificans: characterized by bone growing in muscle tissue familial periodic paralysis: characterized by episodes of weakness in the arms and legs polymyositis, inclusion body myositis, and related myopathies: inflammatory myopathies of skeletal muscle neuromyotonia: characterized by alternating episodes of twitching and stiffness; and stiff-man syndrome: characterized by episodes of rigidity and reflex spasms common muscle cramps and stiffness, and tetany: characterized by prolonged spasms of the arms and legs
Question: What is (are) progressive supranuclear palsy ?

Answer: Progressive supranuclear palsy is a brain disorder that affects movement, vision, speech, and thinking ability (cognition). The signs and symptoms of this disorder usually become apparent in mid- to late adulthood, most often in a person's 60s. Most people with progressive supranuclear palsy survive 5 to 9 years after the disease first appears, although a few affected individuals have lived for more than a decade.  Loss of balance and frequent falls are the most common early signs of progressive supranuclear palsy. Affected individuals have problems with walking, including poor coordination and an unsteady, lurching gait. Other movement abnormalities develop as the disease progresses, including unusually slow movements (bradykinesia), clumsiness, and stiffness of the trunk muscles. These problems worsen with time, and most affected people ultimately require wheelchair assistance.  Progressive supranuclear palsy is also characterized by abnormal eye movements, which typically develop several years after the other movement problems first appear. Restricted up-and-down eye movement (vertical gaze palsy) is a hallmark of this disease. Other eye movement problems include difficulty opening and closing the eyelids, infrequent blinking, and pulling back (retraction) of the eyelids. These abnormalities can lead to blurred vision, an increased sensitivity to light (photophobia), and a staring gaze.  Additional features of progressive supranuclear palsy include slow and slurred speech (dysarthria) and trouble swallowing (dysphagia). Most affected individuals also experience changes in personality and behavior, such as a general loss of interest and enthusiasm (apathy). They develop problems with cognition, including difficulties with attention, planning, and problem solving. As the cognitive and behavioral problems worsen, affected individuals increasingly require help with personal care and other activities of daily living.