Druvith/medqa huggingface dataset:
Is Hyper-IgD syndrome inherited ? 

Is hyper IgD syndrome inherited? Hyper IgD syndrome is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. About one half of patients have a positive family history.
What are the treatments for Hyper-IgD syndrome ? 

How might hyper IgD syndrome be treated? There is no cure for hyper IgD syndrome and currently no established treatment.  Management is focused on supportive care. Some patients have responded to high-dose prednisone. Simvastatin, Anakinria (an IL-1 receptor antagonist) and TNF inhibitors have recently shown some success in controlling inflammatory attacks.   Consultations with the following specialists may be helpful: dermatologist, rheumatologist, and infectious disease specialist (to evaluate periodic fever).
What are the symptoms of WT limb blood syndrome ? 

What are the signs and symptoms of WT limb blood syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for WT limb blood 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 metacarpal bones 90% Anemia 90% Aplasia/Hypoplasia of the thumb 90% Abnormality of leukocytes 50% Abnormality of the ulna 50% Camptodactyly of finger 50% Clinodactyly of the 5th finger 50% Elbow dislocation 50% Lymphoma 50% Thrombocytopenia 50% Abnormality of the wrist 7.5% Brachydactyly syndrome 7.5% Cryptorchidism 7.5% Finger syndactyly 7.5% Single transverse palmar crease 7.5% Absent thumb - Autosomal dominant inheritance - Hypoplastic anemia - Irregular hyperpigmentation - Joint contracture of the 5th finger - Leukemia - Pancytopenia - Radioulnar synostosis - Retrognathia - Sensorineural hearing impairment - Short phalanx of finger - Short thumb - Ulnar deviation of the 3rd finger - Ulnar deviation of thumb - 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 Nelson syndrome ? 

What are the signs and symptoms of Nelson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nelson 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 skin - Autosomal dominant inheritance - 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 Conductive deafness with malformed external ear ? 

What are the signs and symptoms of Conductive deafness with malformed external ear? The Human Phenotype Ontology provides the following list of signs and symptoms for Conductive deafness with malformed external ear. 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) Conductive hearing impairment 90% Low-set, posteriorly rotated ears 90% Abnormality of the palate 50% Cognitive impairment 50% Overfolded helix 50% Atresia of the external auditory canal 7.5% Hernia of the abdominal wall 7.5% Preauricular skin tag 7.5% Sensorineural hearing impairment 7.5% Abnormality of the middle ear ossicles - Autosomal recessive inheritance - Hypogonadism - Intellectual disability - 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 Brachydactyly types B and E combined ? 

What are the signs and symptoms of Brachydactyly types B and E combined? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly types B and E combined. 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 - Brachydactyly syndrome - Broad distal phalanx of finger - Broad thumb - Concave nail - Short 4th finger - Short 4th metacarpal - Short 5th finger - Short 5th metacarpal - Short fifth metatarsal - Short thumb - 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 Choroidal dystrophy central areolar ? 

What are the signs and symptoms of Choroidal dystrophy central areolar? The Human Phenotype Ontology provides the following list of signs and symptoms for Choroidal dystrophy central areolar. 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 - Choriocapillaris atrophy - Chorioretinal atrophy - 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) Schimke immunoosseous dysplasia ? 

Schimke immunoosseous dysplasia (SIOD) is a condition characterized by short stature, kidney disease, and a weakened immune system.   Growth failure is often the first sign of this condition.  Other features are usually detected in the evaluation for growth failure or in the following years.  The severity of SIOD ranges from an infantile or severe early-onset form to a juvenile or milder late-onset form.  Complications of the severe form of SIOD can include strokes, severe opportunistic infections, bone marrow failure, and kidney failure that can be life-threatening early in life. People with milder disease have survived to adulthood if their kidney disease is managed. This condition is inherited in an autosomal recessive pattern.  Mutations in the SMARCAL1 gene increase the risk to develop Schimke immunoosseous dysplasia.  However, in order for people with SMARCAL1 gene mutations to develop symptoms of Schimke immunoosseous dysplasia, other currently unknown genetic or environmental factors must also be present.
How to diagnose Schimke immunoosseous dysplasia ? 

How is Schimke immunoosseous dysplasia diagnosed? The diagnosis of SIOD is made on clinical findings.  The most definitive diagnostic findings are skeletal dysplasia (spondyloepiphyseal dysplasia), renal dysfunction (urinary protein loss), T lymphocyte deficiency, characteristic facial features, and hyperpigmented macules.  DNA testing for mutations in SMARCAL1 is available on a clinical basis.
What are the treatments for Schimke immunoosseous dysplasia ? 

How might Schimke immunoosseous dysplasia be treated? Treatment of Schimke immunoosseous dysplasia (SIOD) is based on addressing individual symptoms as they develop.  Renal transplantation can treat the renal disease, and bone marrow transplantation has been done to treat the immunodeficiency.  Blood thinning medications can transiently improve blood flow through the atherosclerotic arteries but do not provide enduring relief from cerebral ischemia.  Treatment with acyclovir and some antibacterial agents has been beneficial for preventing of reducing the frequency of opportunistic infections.  More detailed information about treatment for SIOD can be found on the GeneReview's Web site. Click on the GeneReview link to read more.
What are the symptoms of Spastic paraplegia 16 ? 

What are the signs and symptoms of Spastic paraplegia 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 16. 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) Babinski sign - Facial hypotonia - Hyperreflexia - Hypoplasia of the maxilla - Intellectual disability - Juvenile onset - Low frustration tolerance - Lower limb amyotrophy - Lower limb muscle weakness - Mood swings - Motor aphasia - Restlessness - Short distal phalanx of finger - Shuffling gait - Spastic paraplegia - Strabismus - Urinary bladder sphincter dysfunction - Urinary incontinence - Urinary urgency - Visual impairment - X-linked recessive inheritance - 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) Pyruvate carboxylase deficiency ? 

Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Researchers have identified at least three types of pyruvate carboxylase deficiency, types A, B, and C, which are distinguished by the severity of their signs and symptoms. This condition is caused by mutations in the PC gene and inherited in an autosomal recessive pattern.
What are the symptoms of Pyruvate carboxylase deficiency ? 

What are the signs and symptoms of Pyruvate carboxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyruvate carboxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Clonus - Congenital onset - Hepatomegaly - Hyperalaninemia - Hypoglycemia - Increased serum lactate - Increased serum pyruvate - Intellectual disability - Lactic acidosis - Muscular hypotonia - Neuronal loss in the cerebral cortex - Periventricular leukomalacia - Proximal renal tubular acidosis - Seizures - 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 Pyruvate carboxylase deficiency inherited ? 

How is pyruvate carboxylase deficiency inherited? Pyruvate carboxylase deficiency is inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene in each cell (usually one inherited from each parent) must have a mutation for an individual to be affected. Individuals who carry one mutated copy of the gene are referred to as carriers. Carriers typically do not have any signs or symptoms of the condition. When two carriers for an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be an unaffected carrier like each of the parents, and a 25% risk to not have the condition and not be a carrier (i.e. to inherit both normal genes). In other words, each child born to two carriers has a 75% (3 in 4) chance to be unaffected. De novo mutations (new mutations that occur for the first time in an individual and are not inherited from a parent) have been reported for this condition. This means that in some cases, an affected individual may have only one parent who is a carrier for the condition. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk may be possible through laboratories offering custom mutation analysis if the disease-causing mutations in a family are known. Individuals interested in learning more about genetic risks to themselves or family members, or about genetic testing for this condition, should speak with a genetics professional.
What is (are) Zellweger spectrum ? 

Zellweger spectrum refers to a group of related conditions that have overlapping signs and symptoms and affect many parts of the body. The spectrum includes Zellweger syndrome (ZS), the most severe form; neonatal adrenoleukodystrophy (NALD), an intermediate form; and infantile Refsum disease (IRD), the least severe form. Signs and symptoms of ZS typically become apparent in the newborn period and may include hypotonia, feeding problems, hearing and vision loss, seizures, distinctive facial characteristics, and skeletal abnormalities. Individuals with ZS often do not survive past the first year of life. The features of NALD and IRD often vary in nature and severity, and may not become apparent until late infancy or early childhood. Individuals with NALD or IRD may have hypotonia, vision and/or hearing problems, liver dysfunction, developmental delay and learning disabilities. Most individuals with NALD survive into childhood, and those with IRD may reach adulthood. Conditions in the Zellweger spectrum are caused by mutations in any of at least 12 genes and are inherited in an autosomal recessive manner. Treatment typically focuses on the specific signs and symptoms present in each individual.
What are the symptoms of Autosomal dominant deafness-onychodystrophy syndrome ? 

What are the signs and symptoms of Autosomal dominant deafness-onychodystrophy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant deafness-onychodystrophy 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) Conical tooth 7.5% Selective tooth agenesis 7.5% Triphalangeal thumb 5% Anonychia - Autosomal dominant inheritance - Brachydactyly syndrome - Congenital onset - Hidrotic ectodermal dysplasia - Nail dystrophy - Sensorineural hearing impairment - Small nail - Toe syndactyly - 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) Congenitally corrected transposition of the great arteries ? 

Congenitally corrected transposition of the great arteries is a rare heart defect that occurs when the ventricles and attached valves are switched. As a result, the aorta and the pulmonary artery are connected to the wrong lower heart chambers. Click here to visit MayoClinic.com and view an image of this heart defect. While the oxygen-poor blood still flows to the lungs, and oxygen-rich blood still flows out to nourish the body, other heart problems (such as septal defects, pulmonary stenosis, tricuspid regurgitation, and heart block) are often associated with this defect and require treatment.
What causes Congenitally corrected transposition of the great arteries ? 

What causes congenitally corrected transposition of the great arteries? Currently the cause of congenitally corrected transposition of the great arteries is not known. Limited data suggests that air pollutants and hair dye may act as environmental risk factors for this rare defect. Also, having a family history of this heart defect is a risk factor. It has been estimated that the recurrence risk in siblings is around 3% to 5%.
What is (are) Acute alcohol sensitivity ? 

Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism of aldehyde dehydrogenase (ALDH) that metabolizes acetaldehyde to nontoxic acetate.[9184] The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment.
What are the symptoms of Acute alcohol sensitivity ? 

What are the signs and symptoms of Acute alcohol sensitivity ? The Human Phenotype Ontology provides the following list of signs and symptoms for Acute alcohol sensitivity . 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) Delayed oxidation of acetaldehyde - Facial flushing after alcohol intake - 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.