sarnsrun/medquad huggingface dataset:
Topic: Dendritic cell tumor
Question: What is (are) Dendritic cell tumor ?
Answer: A dendritic cell tumor develops from the cells of the immune system.  This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize).  There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, Langerhans' cell histiocytosis, Langerhans' cell sarcoma, and dendritic cell sarcoma not specified otherwise.  The symptoms and severity of the condition depend on the subtype and location of the tumor.  Treatment may include surgery, radiation therapy, and/or chemotherapy.
Source: GARD
Topic: Medullary cystic kidney disease
Question: What is (are) Medullary cystic kidney disease ?
Answer: Medullary cystic kidney disease (MCKD) is a chronic, progressive kidney disease characterized by the presence of small renal cysts that eventually lead to end stage renal failure. Symptoms typically appear at an average age of 28 years and may include polyuria (excessive production or passage of urine) and low urinary osmolality (decreased concentration) in the first morning urine. Later, symptoms of renal insufficiency typically progress to include anemia, metabolic acidosis and uremia. End stage renal disease (ESRD) eventually follows. There are 2 types of MCKD, which are both inherited in an autosomal dominant manner but are caused by mutations in different genes. MCKD 1 is caused by mutations in the MCKD1 gene (which has not yet been identified) and MCKD 2 is caused by mutations in the UMOD gene. The 2 types also differ by MCKD 1 being associated with ESRD at an average age of 62 years, while MCKD 2 is associated with ESRD around 32 years and is more likely to be associated with hyperuricemia and gout. Treatment for MCKD may include correction of water and electrolyte imbalances, and dialysis followed by renal transplantation for end-stage renal failure.
Source: GARD
Topic: Medullary cystic kidney disease
Question: What are the symptoms of Medullary cystic kidney disease ?
Answer: What are the signs and symptoms of Medullary cystic kidney disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Medullary cystic kidney disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Anemia - Autosomal dominant inheritance - Cerebral cortical atrophy - Decreased glomerular filtration rate - Elevated serum creatinine - Glomerulosclerosis - Gout - Hypertension - Hypotension - Impaired renal uric acid clearance - Multiple small medullary renal cysts - Renal cortical atrophy - Renal corticomedullary cysts - Renal hypoplasia - Renal salt wasting - Stage 5 chronic kidney disease - Tubular atrophy - Tubular basement membrane disintegration - Tubulointerstitial fibrosis - Tubulointerstitial nephritis - 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.
Source: GARD
Topic: Medullary cystic kidney disease
Question: What causes Medullary cystic kidney disease ?
Answer: What causes medullary cystic kidney disease? There are 2 types of MCKD, which are both inherited in an autosomal dominant manner but are caused by mutations in different genes. MCKD 1 is caused by mutations in the MCKD1 gene (which has not yet been identified) and MCKD 2 is caused by mutations in the UMOD gene. Exposure to seizure medication is not a known cause medullary cystic kidney disease.
Source: GARD
Topic: Medullary cystic kidney disease
Question: Is Medullary cystic kidney disease inherited ?
Answer: How is medullary cystic kidney disease inherited? The 2 types of MCKD are both inherited in an autosomal dominant manner. This means that any individual with the condition has a 50% chance of passing on the disease causing mutation to any of their children.
Source: GARD
Topic: Pterygium colli mental retardation digital anomalies
Question: What are the symptoms of Pterygium colli mental retardation digital anomalies ?
Answer: What are the signs and symptoms of Pterygium colli mental retardation digital anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Pterygium colli mental retardation digital anomalies. 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 calvarial morphology 90% Abnormality of the distal phalanx of finger 90% Abnormality of the pinna 90% Aplasia/Hypoplasia of the thumb 90% Cognitive impairment 90% Epicanthus 90% Highly arched eyebrow 90% Hypertelorism 90% Joint hypermobility 90% Low-set, posteriorly rotated ears 90% Lymphedema 90% Muscular hypotonia 90% Narrow forehead 90% Proximal placement of thumb 90% Ptosis 90% Upslanted palpebral fissure 90% Webbed neck 90% Brachycephaly - Broad distal phalanx of finger - Edema of the dorsum of feet - Edema of the dorsum of hands - Epicanthus inversus - Intellectual disability - Low-set ears - Posteriorly rotated ears - Protruding ear - 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.
Source: GARD
Topic: X-linked lymphoproliferative syndrome
Question: What are the symptoms of X-linked lymphoproliferative syndrome ?
Answer: What are the signs and symptoms of X-linked lymphoproliferative syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked lymphoproliferative 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) Cellular immunodeficiency 90% Decreased antibody level in blood 50% Hepatomegaly 50% Lymphadenopathy 50% Lymphoma 50% Splenomegaly 50% Anemia 7.5% Fever 9/10 Splenomegaly 9/10 Hepatitis 8/9 Hypertriglyceridemia 7/8 Hypofibrinogenemia 7/8 Increased serum ferritin 7/8 Hemophagocytosis 4/9 Encephalitis - Fulminant hepatitis - Hepatic encephalopathy - IgG deficiency - Immunodeficiency - Increased IgM level - Meningitis - Pancytopenia - Recurrent pharyngitis - Reduced natural killer cell activity - Thrombocytopenia - X-linked inheritance - 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.
Source: GARD
Topic: Ambras syndrome
Question: What is (are) Ambras syndrome ?
Answer: Ambras syndrome is a very rare type of hypertrichosis lanuginosa congenita, a congenital skin disease characterized by excessive hair growth on the entire body, with the exception of the palms, soles, and mucous membranes. Individuals with Ambras syndrome have excessive growth of vellus (soft, fine and short) hair, especially on the face, ears, and shoulders. Facial and dental abnormalities may also be present. Ambras syndrome has been mapped to the short (q) arm of chromosome 8. It appears to follow an autosomal dominant pattern of inheritance.
Source: GARD
Topic: Ambras syndrome
Question: What are the symptoms of Ambras syndrome ?
Answer: What are the signs and symptoms of Ambras syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ambras 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 dominant inheritance - Congenital, generalized hypertrichosis - 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.
Source: GARD
Topic: Ataxia - hypogonadism - choroidal dystrophy
Question: What are the symptoms of Ataxia - hypogonadism - choroidal dystrophy ?
Answer: What are the signs and symptoms of Ataxia - hypogonadism - choroidal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Ataxia - hypogonadism - choroidal dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of retinal pigmentation 90% Abnormality of the genital system 90% Incoordination 90% Abnormal upper motor neuron morphology 5% Spasticity 5% Abnormality of metabolism/homeostasis - Areflexia - Autosomal recessive inheritance - Cerebellar atrophy - Chorioretinal dystrophy - Distal amyotrophy - Hypogonadotrophic hypogonadism - Hyporeflexia - Intention tremor - Juvenile onset - Photophobia - Progressive - Progressive visual loss - Retinal dystrophy - Scanning speech - Spinocerebellar 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.
Source: GARD
Topic: Hashimoto's encephalitis
Question: What is (are) Hashimoto's encephalitis ?
Answer: Hashimoto's encephalitis (HE) is a condition characterized by onset of confusion with altered level of consciousness; seizures; and jerking of muscles (myoclonus). Psychosis, including visual hallucinations and paranoid delusions, has also been reported. The exact cause of HE is not known, but may involve an autoimmune or inflammatory abnormality. It is associated with Hashimoto's thyroiditis, but the nature of the relationship between the two conditions is unclear. Most people with HE respond well to corticosteroid therapy or other immunosuppressive therapies, and symptoms typically improve or resolve over a few months.
Source: GARD
Topic: Hashimoto's encephalitis
Question: What are the symptoms of Hashimoto's encephalitis ?
Answer: What are the signs and symptoms of Hashimoto's encephalitis? The symptoms of Hashimoto's encephalitis can vary among affected people. They most often include sudden or subacute onset of confusion with alteration of consciousness. Some affected people have multiple, recurrent episodes of neurological deficits with cognitive dysfunction. Others experience a more progressive course characterized by slowly progressive cognitive impairment with dementia, confusion, hallucinations, or sleepiness. In some cases, rapid deterioration to coma can occur. In addition to confusion and mental status changes, symptoms may include seizures and myoclonus (muscle jerking) or tremor. Psychosis, including visual hallucinations and paranoid delusions, has also been reported.
Source: GARD
Topic: Hashimoto's encephalitis
Question: What causes Hashimoto's encephalitis ?
Answer: What causes Hashimoto's encephalitis? The exact cause of Hashimoto's encephalitis (HE) is unknown, but is thought to relate to autoimmune or other autoinflammatory processes. While it is associated with Hashimoto's thyroiditis, the exact nature of the relationship between the two conditions is unclear. It does not appear to be directly related to hypothyroidism or hyperthyroidism.
Source: GARD
Topic: Hashimoto's encephalitis
Question: Is Hashimoto's encephalitis inherited ?
Answer: Is Hashimoto's encephalitis inherited? We are aware of only one instance when more than one person in the same family had Hashimoto's encephalitis (HE). To our knowledge, no other cases of familial HE have been reported; HE typically occurs in people with no family history of the condition (sporadically). HE can occur in association with other autoimmune disorders, so HE may develop due to an interaction between genes that predispose a person (susceptibility genes) and environmental triggers.
Source: GARD
Topic: Hashimoto's encephalitis
Question: What are the treatments for Hashimoto's encephalitis ?
Answer: How might Hashimoto's encephalitis be treated? Medical management of Hashimoto's encephalitis (HE) usually involves corticosteroids and treatment of thyroid abnormalities (if present). The optimal dose of oral steroids is not known. Most patients with HE respond to steroid therapy. Symptoms typically improve or resolve over a few months. Decisions regarding the length of steroid treatment and the rate of tapering off steroids are based on the individual's response to treatment. Treatment may last as long as two years in some patients. People with HE who experience repeated HE relapses, do not respond to steroids, and/or cannot tolerate steroid treatment have been treated with other immunosuppressive medications such as azathioprine and cyclophosphamide. Intravenous immunoglobulin, and plasmapheresis have also been used.
Source: GARD
Topic: Mosaic trisomy 9
Question: What is (are) Mosaic trisomy 9 ?
Answer: Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person.
Source: GARD
Topic: Mosaic trisomy 9
Question: What are the symptoms of Mosaic trisomy 9 ?
Answer: What are the signs and symptoms of mosaic trisomy 9? The signs and symptoms of mosaic trisomy 9 vary but may include: Different degrees of developmental delay and intellectual disability Abnormal growth including low birth weight, failure to thrive, hypotonia (low muscle tone), and short stature Characteristic craniofacial features such as microcephaly (unusually small head); a sloping forehead with narrow temples; a broad nose with a bulbous tip and "slitlike" nostrils; a small jaw; abnormally wide fontanelles at birth; cleft lip and/or palate; low-set, misshapen ears; microphthalmia (unusually small eyes) and/or short, upwardly slanting eyelid folds (palpebral fissures) Vision problems Congenital heart defects Abnormalities of the muscles and/or bones such as congenital dislocation of the hips; abnormal position and/or limited function of the joints; underdevelopment of certain bones; and/or abnormal curvature of the spine Unusually formed feet, such as club foot or "rocker bottom" feet Abnormalities of the male reproductive system, including undescended testes, a small penis, and/or abnormal placement of the urinary opening Kidney problems Brain malformations such as hydrocephalus and/or Dandy-Walker malformation
Source: GARD
Topic: Mosaic trisomy 9
Question: What causes Mosaic trisomy 9 ?
Answer: What causes mosaic trisomy 9? Most cases of mosaic trisomy 9 occur due to a random event during the formation of the reproductive cells (egg and sperm) or after fertilization has taken place. An error in cell division (called nondisjunction) may cause some eggs or sperm to have an abnormal number of chromosomes. If an egg or sperm with an extra chromosome 9 contributes to the genetic makeup of an embryo, the embryo will have an extra copy of chromosome 9 in each cell. As the embryo grows and divides, an attempt may be made to correct the mistake by eliminating one extra chromosome 9. In people with mosaic trisomy 9, this attempt may be partly successful, leaving some cells with an extra chromosome 9 and some cells with the extra chromosome deleted (the usual chromosome number). This correction process is called trisomy rescue. In other cases, the egg and sperm may have a normal number of chromosomes, but an error of cell division (nondisjunction) occurs when the fertilized egg is growing and dividing. If an error occurs during one of the divisions, it can cause some cells to have an abnormal number of chromosomes. In people affected by mosaic trisomy 9, some of the body's cells have the usual two copies of chromosome 9, and other cells have three copies of this chromosome (trisomy). The percentage of cells with trisomy 9 and which parts of the body are affected vary from person to person. This leads to variability in the range and severity of symptoms. In rare cases, mosaic trisomy 9 is inherited from a parent with a chromosomal rearrangement called a "pericentric inversion." This occurs when a segment of chromosome 9 has broken off in two places, swiveled round 180 degrees and reinserted itself into the chromosome. If this rearrangement is considered "balanced," meaning the piece of chromosome is in a different order but no genetic material is gained or lost, it usually does not cause any symptoms or health problems. However, it can be associated with an increased risk of having children with an abnormal number or chromosomes.
Source: GARD
Topic: Mosaic trisomy 9
Question: Is Mosaic trisomy 9 inherited ?
Answer: Is mosaic trisomy 9  inherited? Mosaic trisomy 9 is usually not inherited. It often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. In rare cases, mosaic trisomy 9 may be inherited from a parent with a chromosomal rearrangement called a "pericentric inversion." This occurs when a segment of chromosome 9 has broken off in two places, swiveled round 180 degrees and reinserted itself into the chromosome. In these cases, the parent has a "balanced" rearrangement, meaning the piece of chromosome is in a different order but no genetic material is gained or lost. Carriers of a balanced rearrangement typically to not have any symptoms or health problems. However, they may be at an increased risk of having children with an abnormal number or chromosomes.
Source: GARD
Topic: Mosaic trisomy 9
Question: How to diagnose Mosaic trisomy 9 ?
Answer: How is mosaic trisomy 9 diagnosed? In some cases, mosaic trisomy 9 is diagnosed before birth. A pregnancy ultrasound may reveal signs and symptoms that are suggestive of a chromosomal or developmental disorder. Additional tests, such as chorionic villus sampling (CVS) or an amniocentesis, may be offered to further investigate these features. During a CVS, a tissue sample from a portion of the placenta is removed and analyzed, while amniocentesis involves the removal of a sample of fluid that surrounds the developing baby. In both tests, the fluid or tissue sample is used to obtain a picture of the baby's chromosomes, which is called a karyotype. This may reveal mosaic trisomy 9. In other cases, the child is not diagnosed until after birth. Mosaic trisomy 9 may be suspected after characteristic signs and symptoms are identified on physical exam. A diagnosis can be confirmed by examining the child's chromosomes from a sample of blood.
Source: GARD
Topic: Mosaic trisomy 9
Question: What are the treatments for Mosaic trisomy 9 ?
Answer: How might mosaic trisomy 9 be treated? Because mosaic trisomy 9 affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person. For example, children with bone or muscle abnormalities and/or delayed motor milestones (i.e. walking) may be referred for physical or occupational therapy. Depending on the degree of intellectual disability, a child may require special education classes. Heart defects and cleft lip and/or palate may need to be surgically repaired. Children with hydrocephalus may be treated with certain medications and/or shunting (placement of a specialized device that drains excess fluid away from the brain). Other surgeries may be recommended depending on the nature and severity of the other features (i.e. craniofacial, muscular, skeletal, kidney, and/or reproductive system problems) and their associated symptoms.
Source: GARD