Druvith/medqa huggingface dataset:
What are the symptoms of Epidermolysis bullosa simplex, generalized ? 

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.
What are the treatments for Epidermolysis bullosa simplex, generalized ? 

How might epidermolysis bullosa simplex be treated? There is no cure for epidermolysis bullosa simplex and there is no known treatment proven to completely control all of the symptoms. However, many complications can be lessened or avoided through early intervention. Individuals with milder forms of the disease have minimal symptoms and may require little or no treatment. In all cases, treatment is directed towards the symptoms and is largely supportive. This care should focus on prevention of infection, protection of the skin against trauma, attention to nutritional deficiencies and dietary complications, minimization of deformities and contractures, and the need for psychological support for the patient and other family members.  Detailed information regarding prevention of blisters, care of blisters and infections, and management of nutritional problems can be accessed through the National Institute of Arthritis and Musculoskeletal and Skin  Diseases (NIAMS) and article from the eMedicine journal.
What are the symptoms of Short stature syndrome, Brussels type ? 

What are the signs and symptoms of Short stature syndrome, Brussels type? The Human Phenotype Ontology provides the following list of signs and symptoms for Short stature syndrome, Brussels 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 metabolism/homeostasis - Delayed epiphyseal ossification - Horseshoe kidney - Microretrognathia - Narrow chest - Relative macrocephaly - Short stature - Triangular face - 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.
What are the symptoms of Faciocardiorenal syndrome ? 

What are the signs and symptoms of Faciocardiorenal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Faciocardiorenal 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 localization of kidney 90% Abnormality of the philtrum 90% Abnormality of the pinna 90% Cleft palate 90% Cognitive impairment 90% Hypertelorism 90% Hypoplasia of the zygomatic bone 90% Plagiocephaly 90% Reduced number of teeth 90% Underdeveloped nasal alae 90% Wide nasal bridge 90% Abnormality of the endocardium 50% Abnormality of the tricuspid valve 7.5% Narrow mouth 7.5% Autosomal recessive inheritance - Broad hallux - Cryptorchidism - Decreased muscle mass - Endocardial fibroelastosis - Horseshoe kidney - Hydroureter - Hypodontia - Hypoplastic philtrum - Inguinal hernia - Intellectual disability, progressive - Intellectual disability, severe - Malar flattening - Microtia - Nevus - Scoliosis - Small nail - Toe syndactyly - 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.
What are the symptoms of Scalp defects postaxial polydactyly ? 

What are the signs and symptoms of Scalp defects postaxial polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Scalp defects postaxial polydactyly. 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 hair quantity 50% Encephalocele 50% Skull defect 50% Aplasia cutis congenita of scalp - Autosomal dominant inheritance - Postaxial polydactyly type A - 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.
What is (are) Bilateral frontoparietal polymicrogyria ? 

Bilateral frontoparietal polymicrogyria (BFPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). BFPP specifically affects the frontal and parietal lobes on both sides of the brain (bilateral). Signs and symptoms typically include moderate to severe intellectual disability, developmental delay, seizures, cerebellar ataxia, strabismus, and dysconjugate gaze (eyes that are not aligned). Some cases are caused by mutations in the GPR56 gene and are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
What are the symptoms of Bilateral frontoparietal polymicrogyria ? 

What are the signs and symptoms of Bilateral frontoparietal polymicrogyria? The signs and symptoms of bilateral frontoparietal polymicrogyria vary but may include: Moderate to severe intellectual disability Developmental delay Seizures Dysconjugate gaze (eyes that are not aligned) Ataxia Strabismus Increased muscle tone Finger dysmetria (difficulty controlling speed, distance and/or power of movements) The Human Phenotype Ontology provides the following list of signs and symptoms for Bilateral frontoparietal polymicrogyria. 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) Ankle clonus - Autosomal recessive inheritance - Babinski sign - Broad-based gait - Cerebellar hypoplasia - Cerebral dysmyelination - Esotropia - Exotropia - Frontoparietal polymicrogyria - Hyperreflexia - Hypertonia - Hypoplasia of the brainstem - Intellectual disability - Nystagmus - Polymicrogyria, anterior to posterior gradient - Seizures - Truncal ataxia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Axial osteomalacia ? 

What are the signs and symptoms of Axial osteomalacia? The Human Phenotype Ontology provides the following list of signs and symptoms for Axial osteomalacia. 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 - Elevated serum creatine phosphokinase - Increased bone mineral density - Myopathy - Osteomalacia - Polycystic liver disease - Proximal muscle weakness - Renal cyst - 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.
What is (are) Satoyoshi syndrome ? 

Satoyoshi syndrome is a rare condition characterized by progressive, painful, intermittent muscle spasms, diarrhea or unusual malabsorption, amenorrhea, alopecia universalis, short stature, and skeletal abnormalities. Progressive painful intermittent muscle spasms usually start between 6 to 15 years of age. Alopecia universalis also appears around age 10. About half of affected individuals experience malabsorption, specifically of carbohydrates. The skeletal abnormalities may be secondary to muscle spasms. The main endocrine disorder is primary amenorrhea. All cases have apparently been sporadic, even when occurring in large families. The exact cause is unknown; but some researchers have speculated that Satoyoshi syndrome is an autoimmune disorder.
What are the symptoms of Satoyoshi syndrome ? 

What are the signs and symptoms of Satoyoshi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Satoyoshi 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) Abnormality of epiphysis morphology 90% Abnormality of the eyelashes 90% Abnormality of the femur 90% Abnormality of the hip bone 90% Abnormality of the humerus 90% Abnormality of the metaphyses 90% Abnormality of the wrist 90% Genu varum 90% Hyperlordosis 90% Limb undergrowth 90% Microcephaly 90% Polycystic ovaries 90% Secondary amenorrhea 90% Short stature 90% Tapered finger 90% Brachydactyly syndrome 5% Short metacarpal 5% Short metatarsal 5% Alopecia universalis - Amenorrhea - Diarrhea - Genu valgum - Hypoplasia of the uterus - Malabsorption - Mildly elevated creatine phosphokinase - Osteolytic defects of the phalanges of the hand - Pes planus - Skeletal muscle hypertrophy - Sporadic - 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.
What is (are) Fowler's syndrome ? 

Fowlers syndrome is characterized by urinary retention associated with abnormal electromyographic activity in young women in the absence of overt neurologic disease. Some women with this syndrome have polycystic ovaries as well.
What are the symptoms of Fowler's syndrome ? 

What are the signs and symptoms of Fowler's syndrome? Fowlers syndrome typically occurs in premenopausal women (often in women under 30 years of age) who are unable to void for a day or more with no feeling of urinary urgency, but with increasing lower abdominal discomfort. The Human Phenotype Ontology provides the following list of signs and symptoms for Fowler's 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) Abnormality of the urethra 90% Acne 90% Hypertrichosis 90% Polycystic ovaries 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.
What causes Fowler's syndrome ? 

What causes Fowlers syndrome? The cause of Fowler's syndrome is not known. The association of Fowlers syndrome and polycystic ovaries in some patients raises the possibility that the syndrome is linked in some way to impaired muscle membrane stability, owing possibly to a hormonal abnormality. The involvement of such a hormonal abnormality may also explain why it primarily affects premenopausal women.
How to diagnose Fowler's syndrome ? 

How is Fowlers syndrome diagnosed? Diagnosis of Fowlers syndrome involves ruling out neurological or laboratory features that would support a diagnosis of a underlying neurological disease, and identification of a bladder capacity of over 1 liter with no sensation of urgency. Also in Fowlers syndrome, analysis of the striated muscle of the urethral sphincter using concentric needle electrode examination reveals a fairly unique electromyographic (EMG) abnormality. This EMG abnormality is found in association with the urethral sphincter (group of muscles which surround the urinary passage below the bladder), and consists of a type of activity that would be expected to cause inappropriate contraction of the muscle (i.e., impair sphincter relaxation).
What are the treatments for Fowler's syndrome ? 

How might Fowlers syndrome be treated? The urinary incontinence caused by Fowlers syndrome may be treated by sacral neuromodulation therapy. The success rate for treatment of Fowlers syndrome with neuromodulation has been estimated to be around 70%, even in women who have been experiencing symptoms for a while. Neuromodulation therapy involves the stimulation of nerves to the bladder leaving the spine. The FDA has approved a device called InterStim for this purpose. Your doctor will need to test to determine if this device would be helpful to you. The doctor applies an external stimulator to determine if neuromodulation works in you. If you have a 50 percent reduction in symptoms, a surgeon will implant the device. Although neuromodulation can be effective, it is not for everyone. The therapy is expensive, involving surgery with possible surgical revisions and replacement. Other treatments that have been tried with little success include hormonal manipulation, pharmacologic therapy, and injections of botulinum toxin.
What are the symptoms of Nestor-guillermo progeria syndrome ? 

What are the signs and symptoms of Nestor-guillermo progeria syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nestor-guillermo progeria 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) Abnormality of the forearm - Abnormality of the ribs - Atherosclerosis - Autosomal recessive inheritance - Convex nasal ridge - Delayed closure of the anterior fontanelle - Dental crowding - Failure to thrive - Flexion contracture - Hypoplasia of midface - Joint stiffness - Lipoatrophy - Malar flattening - Osteolytic defects of the distal phalanges of the hand - Osteoporosis - Progressive clavicular acroosteolysis - Proptosis - Pulmonary hypertension - Scoliosis - Short stature - Sinus tachycardia - Sparse eyebrow - Sparse eyelashes - Spotty hyperpigmentation - Wide cranial sutures - 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.
What is (are) Myotonia congenita autosomal dominant ? 

Myotonia congenita is a genetic condition characterized by the inability of the skeletal muscles to quickly relax after a voluntary movement.  The symptoms associated with the condition typically appear in childhood and vary from person to person. There are two forms of the disorder:  Becker type, which is the most common form; and Thomsen disease, which is a rare and milder form. Both conditions are caused by mutations in the CLCN1 gene.  However, the conditions have different modes of inheritance.  The Becker type is inherited in an autosomal recessive fashion, and the Thomsen type is inherited in an autosomal dominant manner.