Druvith/medqa huggingface dataset:
What are the symptoms of Reticular dysgenesis ? 

What are the signs and symptoms of Reticular dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Reticular dysgenesis. 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 mitochondrial metabolism 90% Abnormality of neutrophils 90% Anemia 90% Aplasia/Hypoplasia of the thymus 90% Cellular immunodeficiency 90% Decreased antibody level in blood 90% Diarrhea 90% Hearing impairment 90% Leukopenia 90% Otitis media 90% Recurrent respiratory infections 90% Sepsis 90% Severe combined immunodeficiency 90% Abnormality of temperature regulation 50% Malabsorption 50% Weight loss 50% Dehydration 7.5% Skin rash 7.5% Skin ulcer 7.5% Abnormality of the thymus - Absent cellular immunity - Autosomal recessive inheritance - Congenital agranulocytosis - Lymphopenia - 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 Bowen syndrome ? 

What are the signs and symptoms of Bowen syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bowen 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 cardiovascular system morphology - Abnormality of the ear - Agenesis of corpus callosum - Autosomal recessive inheritance - Congenital glaucoma - Death in childhood - Failure to thrive - Feeding difficulties in infancy - Hypospadias - 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) Tietze syndrome ? 

Tietze syndrome is an inflammatory condition characterized by chest pain and swelling of the cartilage that joins the upper ribs to the breastbone (costochondral junction). Signs and symptoms of this condition usually develop in young adults (before age 40) and include mild to severe chest pain that may extend into the arms and/or shoulders. The cause of this condition is unknown. In some cases, Tietze syndrome may resolve on its own without treatment. Management for others may include minimizing physical activity; applying local heat; and taking pain medications and/or nonsteroidal anti-inflammatory drugs. Of note, this syndrome is different from Tietz syndrome, which is characterized by profound hearing loss from birth, fair skin, and light-colored hair.
What are the symptoms of Tietze syndrome ? 

What are the signs and symptoms of Tietze syndrome? The signs and symptoms of Tietze syndrome usually develop in young adulthood (before age 40). The most common symptom is mild to severe chest pain that may extend into the arms and/or shoulders. The onset of pain can be gradual or sudden and may worsen with coughing, sneezing, or deep breathing. More than 70% of cases occur on only one side (unilateral) and affect one joint. The affected joint is typically tender and swollen. While the pain associated with Tietze syndrome usually subsides after several weeks or months, the swelling may persist.
What causes Tietze syndrome ? 

What causes Tietze syndrome? The exact underlying cause of Tietze syndrome is currently unknown. Some researchers have speculated that small injuries to the anterior chest wall may contribute to the development of the condition.
Is Tietze syndrome inherited ? 

Is Tietze syndrome inherited? Tietze syndrome is not thought to be inherited. Most cases occur sporadically in people with no family history of the condition.
How to diagnose Tietze syndrome ? 

How is Tietze syndrome diagnosed? Tietze syndrome is a diagnosis of exclusion. This means that a diagnosis is made in people with chest pain and swelling of the cartilage that joins the upper ribs to the breastbone (costochondral junction) after other conditions with similar signs and symptoms have been ruled out. A thorough physical exam and various tests (i.e. electrocardiogram, x-ray, CT scan) may be necessary to exclude other conditions.
What are the treatments for Tietze syndrome ? 

How might Tietze syndrome be treated? In some individuals, the pain associated with Tietze syndrome resolves on its own without any treatment. Management options for others may include avoidance of strenuous activity; applying local heat; taking pain medications and/or nonsteroidal anti-inflammatory drugs; and receiving local corticosteroid injections. Although the pain usually subsides after several weeks or months, swelling may persist.
What is (are) Geniospasm ? 

Hereditary geniospasm is a movement disorder that causes episodes of involuntary tremors of the chin and lower lip. The episodes may last anywhere from a few seconds to hours and may occur spontaneously or be brought on by stress. The episodes usually first appear in infancy or childhood and tend to lessen in frequency with age. Hereditary geniospasm is believed to be inherited in an autosomal dominant pattern. Although the exact gene(s) that cause the condition are unknown, it has been suggested that mutations in a gene on chromosome 9 may be responsible in some families.
What are the symptoms of Geniospasm ? 

What are the signs and symptoms of Geniospasm? The Human Phenotype Ontology provides the following list of signs and symptoms for Geniospasm. 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 - Chin myoclonus - 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.
Is Geniospasm inherited ? 

How is hereditary geniospasm inherited? Hereditary geniospasm is inherited in an autosomal dominant manner. This means that having only one mutated copy of the causative gene in each body cell is sufficient to cause signs and symptoms of the condition. When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene and also be affected. Because there is a 50% chance for each child, it is possible for all of the children of an affected individual to be affected, or likewise, for all of the children to be unaffected.
How to diagnose Geniospasm ? 

How might hereditary geniospasm be diagnosed? Although we were unable to locate laboratories offering genetic testing for hereditary geniospasm, the condition can be diagnosed on the basis of a clinical evaluation performed by a health care professional such as a neurologist who specializes in movement disorders.
What are the treatments for Geniospasm ? 

How might hereditary geniospasm be treated? Hereditary geniospasm, which may also be referred to as hereditary essential chin myoclonus, is generally considered a benign disorder although in some cases it can cause anxiety and social embarrassment. Significant improvement with age has been reported. Several drugs are used to treat myoclonus, such as benzodiazepines and anticonvulsants. However, individuals may not respond to a single medication and may experience significant side effects if a combination of drugs is used. It has also been suggested that botulinum toxin be considered as a primary treatment because it has been shown to be effective and well tolerated.
What are the symptoms of Saccharopinuria ? 

What are the signs and symptoms of Saccharopinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Saccharopinuria. 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 - EEG abnormality - Histidinuria - Hyperlysinuria - Intellectual disability - Short stature - Spastic diplegia - 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) Pityriasis rubra pilaris ? 

Pityriasis rubra pilaris (PRP) refers to a group of skin conditions that cause constant inflammation and scaling of the skin. Affected people have reddish-orange colored patches; they may occur everywhere on the body or only on certain areas. There are several types of PRP, which are classified based on age of onset, body areas affected, and whether other associated conditions are present. PRP is usually sporadic (occurring randomly) but some forms may be inherited.
What are the symptoms of Pityriasis rubra pilaris ? 

What are the signs and symptoms of Pityriasis rubra pilaris? Features of this condition vary greatly between affected individuals. The onset is gradual in the familial type and can be more rapid in the acquired type. Redness and scaling of the face and scalp are often seen first, followed by redness and thickening of the palms and soles. Overall, the elbows, knees, backs of the hands and feet, and ankles are most commonly affected. A more widespread eruption consisting of scaling orange-red plaques can be observed on the trunk and extremities. The lesions may expand and coalesce and eventually cover the entire body. When the disease becomes widespread, the nails, mucous membranes and eyes may be affected. The familial type often persists throughout life, but the acquired form may have periods of remission (periods of time where symptoms improve or completely resolve). The Human Phenotype Ontology provides the following list of signs and symptoms for Pityriasis rubra pilaris. 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% Palmoplantar keratoderma 90% Abnormality of the fingernails 50% Pruritus 50% Abnormality of the oral cavity 7.5% Eczema 7.5% Ichthyosis 7.5% Lichenification 7.5% Neoplasm 7.5% Pustule 7.5% Autosomal dominant inheritance - Subungual 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 causes Pityriasis rubra pilaris ? 

What causes pityriasis rubra pilaris? In most cases, pityriasis rubra pilaris (PRP) occurs sporadically for unknown reasons. In a few families with the inherited form, familial PRP, the condition is caused by mutations in the CARD14 gene. This gene gives instructions for making a protein that turns on other proteins that regulate genes that control the body's immune responses and inflammatory reactions. It also protects cells from certain signals that would otherwise cause them to self-destruct. The CARD14 protein is particularly abundant in the skin. Mutations in the gene can cause a person to have an abnormal inflammatory response. Researchers are trying to find out how these mutations cause the specific features of familial PRP.
What are the treatments for Pityriasis rubra pilaris ? 

How might pityriasis rubra pilaris be treated? Treatment of pityriasis rubra pilaris (PRP) is mainly based on reports of patients' experiences. No controlled trials have been done, so the effectiveness and safety of treatments is unclear. Currently there are no treatments approved by the US Food and Drug Administration (FDA) or the European Medicines Agency (EMA) for use in PRP. Management of PRP often involves systemic and topical therapies combined. Topical therapies can help with the symptoms and may be enough for people with mild PRP. Topical treatments are usually combined with systemic therapy for PRP that affects a large part of the body. Most people need systemic therapy to control the condition. Oral retinoids (synthetic vitamin A derivatives) are usually preferred as a first-line systemic treatment for PRP. Methotrexate may be an alternative option for people who should not use systemic retinoids, or who don't respond to systemic retinoid therapy. For people who don't respond well to retinoid or methotrexate therapy, options may include biologic TNF-alpha inhibitors, azathioprine, cyclosporine, and/or phototherapy. Topical treatments used for PRP may include topical corticosteroids, keratolytics, tar, calcipotriol, topical tretinoin, and tazarotene. Some of the medications used to treat PRP can harm a developing fetus and are not recommended for use right before or during pregnancy. People seeking information about specific treatment options for themselves or family members should speak with their health care provider.
What are the symptoms of Epiphyseal dysplasia hearing loss dysmorphism ? 

What are the signs and symptoms of Epiphyseal dysplasia hearing loss dysmorphism? The Human Phenotype Ontology provides the following list of signs and symptoms for Epiphyseal dysplasia hearing loss dysmorphism. 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 dermatoglyphics 90% Abnormality of the wrist 90% Anteverted nares 90% Behavioral abnormality 90% Cognitive impairment 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% Epicanthus 90% Facial asymmetry 90% Hypertelorism 90% Hypopigmented skin patches 90% Proximal placement of thumb 90% Seizures 90% Sensorineural hearing impairment 90% Short stature 90% Wide mouth 90% Abnormality of the genital system 50% Deep philtrum 50% Finger syndactyly 50% Long philtrum 50% Ptosis 50% Scoliosis 50% Abnormal localization of kidney 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.
What are the symptoms of Yorifuji Okuno syndrome ? 

What are the signs and symptoms of Yorifuji Okuno syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Yorifuji Okuno 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) Biliary atresia 5% Congenital diaphragmatic hernia 5% Inguinal hernia 5% Intestinal malrotation 5% Microcephaly 5% Microcolon 5% Seizures 5% Single umbilical artery 5% Umbilical hernia 5% Ureteral duplication 5% Autosomal dominant inheritance - Diabetes mellitus - Failure to thrive - Glycosuria - Hyperglycemia - Interrupted aortic arch - Intrauterine growth retardation - Pancreatic hypoplasia - Patent ductus arteriosus - Patent foramen ovale - Perimembranous ventricular septal defect - Pulmonic stenosis - Tetralogy of Fallot - Transposition of the great arteries - Truncus arteriosus - 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 Spastic quadriplegia retinitis pigmentosa mental retardation ? 

What are the signs and symptoms of Spastic quadriplegia retinitis pigmentosa mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic quadriplegia retinitis pigmentosa mental retardation. 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 retinal pigmentation 90% Cognitive impairment 90% Hemiplegia/hemiparesis 90% Autosomal recessive inheritance - Hearing impairment - Intellectual disability - Rod-cone dystrophy - Spastic tetraplegia - Visual loss - 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.