sarnsrun/medquadmini huggingface dataset:
Question:
What are the symptoms of Holocarboxylase synthetase deficiency ?

Answer:
What are the signs and symptoms of Holocarboxylase synthetase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Holocarboxylase synthetase 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) Abnormal blistering of the skin 90% Behavioral abnormality 90% Cheilitis 90% Cognitive impairment 90% Hearing impairment 90% Hypertrichosis 90% Inflammatory abnormality of the eye 90% Muscular hypotonia 90% Nausea and vomiting 90% Reduced consciousness/confusion 90% Seizures 90% Skin rash 90% Weight loss 90% Abnormal pattern of respiration 50% Hyperammonemia 50% Respiratory insufficiency 50% Alopecia 7.5% Dry skin 7.5% Incoordination 7.5% Thrombocytopenia 7.5% Autosomal recessive inheritance - Coma - Feeding difficulties in infancy - Hypertonia - Hyperventilation - Irritability - Lethargy - Metabolic acidosis - Organic aciduria - Tachypnea - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question:
What is (are) Michelin tire baby syndrome ?

Answer:
Michelin tire baby syndrome (MTBS) is a rare skin condition that consists of many, symmetrical skin folds found on the arms and legs of an affected individual at birth (congenital).  The skin folds do not cause any problems or impairments and usually disappear naturally as the child grows.  MTBS may be associated with other signs, such as unusual facial features or delays in development; these other features are different for each affected individual.  The exact cause of MTBS is unknown.  It has been suggested that MTBS might have a genetic cause, because there are reports of multiple affected members of the same family.
Question:
What are the symptoms of Michelin tire baby syndrome ?

Answer:
What are the signs and symptoms of Michelin tire baby syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Michelin tire baby 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) Cutis laxa 90% Edema 90% Sacrococcygeal pilonidal abnormality 90% Thickened skin 90% Cleft palate 50% Irregular hyperpigmentation 50% Abnormality of the musculature 7.5% Abnormality of the scrotum 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Cognitive impairment 7.5% Congestive heart failure 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% Epicanthus 7.5% External ear malformation 7.5% Hypertrichosis 7.5% Long philtrum 7.5% Lower limb asymmetry 7.5% Low-set, posteriorly rotated ears 7.5% Microcephaly 7.5% Microcornea 7.5% Neoplasm of the nervous system 7.5% Retinopathy 7.5% Short stature 7.5% Umbilical hernia 7.5% Abnormality of cardiovascular system morphology - Abnormality of the skin - Autosomal dominant inheritance - Localized neuroblastoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question:
What are the symptoms of Bartter syndrome type 3 ?

Answer:
What are the signs and symptoms of Bartter syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Bartter syndrome type 3. 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) Hypocalciuria 7.5% Abnormality of the choroid - Abnormality of the retinal vasculature - Abnormality of the sclera - Autosomal recessive inheritance - Dehydration - Generalized muscle weakness - Hyperactive renin-angiotensin system - Hyperaldosteronism - Hyperchloridura - Hypokalemia - Hypokalemic metabolic alkalosis - Hypotension - Impaired reabsorption of chloride - Increased circulating renin level - Increased urinary potassium - Polyuria - Renal potassium wasting - Renal salt wasting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question:
What is (are) Russell-Silver syndrome ?

Answer:
Russell-Silver syndrome (RSS) is a congenital disorder that causes poor growth; low birth weight; short height; and size differences (asymmetry) of parts of the body. Other signs and symptoms may include poor appetite; low blood sugar (hypoglycemia) due to feeding difficulties; a small, triangular face with distinctive facial features; clinodactyly (curved finger); digestive system abnormalities; delayed development; and/or learning disabilities. The genetic causes of RSS are complex and relate to certain genes that control growth. Most cases are not inherited from a parent and occur sporadically. In rare cases, it may be inherited in an autosomal dominant or autosomal recessive manner.
Question:
What are the symptoms of Russell-Silver syndrome ?

Answer:
What are the signs and symptoms of Russell-Silver syndrome? Signs and symptoms of Russell-Silver syndrome (RSS) can vary and may include: intrauterine growth restriction low birth weight poor growth short stature curving of the pinky finger (clinodactyly) characteristic facial features (wide forehead; small, triangular face; and small, narrow chin) arms and legs of different lengths cafe-au-lait spots (birth marks) delayed bone age gastroesophageal reflux disease kidney problems "stubby" fingers and toes developmental delay learning disabilities The Human Phenotype Ontology provides the following list of signs and symptoms for Russell-Silver 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) Blue sclerae 90% Clinodactyly of the 5th finger 90% Decreased body weight 90% Downturned corners of mouth 90% Intrauterine growth retardation 90% Short stature 90% Triangular face 90% Asymmetric growth 50% Delayed skeletal maturation 50% Hypoglycemia 50% Thin vermilion border 50% Abnormality of the cardiovascular system 7.5% Abnormality of the urinary system 7.5% Cognitive impairment 7.5% Precocious puberty 7.5% Abnormality of the foot - Abnormality of the ureter - Cafe-au-lait spot - Congenital posterior urethral valve - Craniofacial disproportion - Craniopharyngioma - Delayed cranial suture closure - Fasting hypoglycemia - Frontal bossing - Growth hormone deficiency - Hepatocellular carcinoma - Hypospadias - Nephroblastoma (Wilms tumor) - Short distal phalanx of the 5th finger - Short middle phalanx of the 5th finger - Small for gestational age - Sporadic - Syndactyly - Testicular seminoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question:
What causes Russell-Silver syndrome ?

Answer:
What causes Russell-Silver syndrome? Russell-Silver syndrome (RSS) is a genetic disorder that usually results from the abnormal regulation of certain genes that control growth. Two genetic causes have been found to result in the majority of cases: abnormalities at an imprinted region on chromosome 11p15 - for some genes, only the copy inherited from a person's father (paternal copy) or mother (maternal copy) is "turned on," or expressed. These parent-specific differences in gene expression are caused by a phenomenon called genomic imprinting. Abnormalities involving genes that undergo imprinting are responsible for many cases of RSS. maternal disomy of chromosome 7 (written as matUPD7) - this occurs when a child inherits both copies of chromosome 7 from the mother, instead of one copy from the mother and one copy from the father. Other chromosome abnormalities involving any of several chromosomes have also been described as causing RSS, or RSS-like syndromes. In some people with RSS, the underlying cause remains unknown.
Question:
Is Russell-Silver syndrome inherited ?

Answer:
Is Russell-Silver syndrome inherited? Most cases of Russell-Silver syndrome (RSS) are sporadic (not inherited), which means they occur in people with no family history of RSS. Less commonly, Russell-Silver syndrome is inherited. In some families, it appears to be inherited in an autosomal dominant manner. This means that having one "copy" of a genetic change in each cell is enough to cause the disorder. In some cases, an affected person inherits the genetic change from a parent. In other cases, the change occurs for the first time in an affected person. When a person with a genetic change that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the genetic change. In other families, the condition is inherited in an autosomal recessive manner. This means that to be affected, a person must have a change in both copies of the responsible gene in each cell. Affected people inherit one copy from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier
Question:
What is (are) Central core disease ?

Answer:
Central core disease (CCD) is an inherited condition that involves muscle weakness, skeletal abnormalities, and an increased chance of having a severe reaction to some anesthesia medications.  Muscle weakness ranges from mild to severe and typically affects muscles in the trunk and upper legs, though muscles in the neck and face can also be affected. Skeletal abnormalities may include curving of the spine (scoliosis), dislocation of the hip, or restricted motion in certain joints (contractures).  Some individuals with CCD have an increased chance of having a severe reaction to anesthesia, called malignant hyperthermia, which may cause muscle rigidity or break-down (rhabdomyolysis), a high fever, or a rapid heart beat.  RYR1 is the only gene associated with CCD and clinical testing is available to look for disease-causing alterations in this gene known as mutations.
Question:
What are the symptoms of Central core disease ?

Answer:
What are the signs and symptoms of Central core disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Central core 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) Muscular hypotonia 90% Myopathy 90% Malignant hyperthermia 7.5% Autosomal dominant inheritance - Autosomal recessive inheritance - Congenital hip dislocation - Fever - Flexion contracture - Generalized muscle weakness - Infantile onset - Kyphoscoliosis - Motor delay - Nemaline bodies - Neonatal hypotonia - Nonprogressive - Pes planus - Phenotypic variability - Skeletal muscle atrophy - Slow progression - Type 1 muscle fiber predominance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question:
How to diagnose Central core disease ?

Answer:
How is central core disease diagnosed? Because the symptoms of central core disease can be quite variable, a physical examination alone is often not enough to establish a diagnosis.  A combination of the following examinations and testings can diagnosis this condition: a physical examination that confirms muscle weakness, a muscle biopsy that reveals a characteristic appearance of the muscle cells, and/or genetic testing that identifies a mutation in the RYR1.
Question:
What are the treatments for Central core disease ?

Answer:
What treatments might be available for central core disease? Treatments for central core disease (CCD) depend on the symptoms experienced by each affected individual.  When someone is first diagnosed with this condition, a physical examination is done to assess the extent and severity of muscle weakness, and physical therapy and occupational therapy assessments to determine which therapies might be most beneficial.  Physical therapy, such as stretching or low-impact exercises, may help improve weakness.  Some skeletal abnormalities can be addressed with physical therapy, though others may require surgery.  As the muscle weakness and scoliosis associated with CCD can affect breathing, individuals diagnosed with this condition may benefit from pulmonary function tests.  If breathing is significantly affected, breathing exercises or other breathing support treatments may be recommended.  Another treatment option may be a medication called salbutamol, which was found to significantly increased muscle strength and stamina in six of eight children with CCD.
Question:
What is (are) Reactive arthritis ?

Answer:
Reactive arthritis is a type of infectious arthritis that occurs as a reaction to an infection elsewhere in the body. This process may occur weeks or even months after the infection has resolved. In addition to joint inflammation, reactive arthritis is associated with two other symptoms: redness and inflammation of the eyes (conjunctivitis) and inflammation of the urinary tract (urethritis). These symptoms may occur alone, together, or not at all. The symptoms of reactive arthritis usually last 3 to 12 months, although symptoms can return or develop into a long-term disease in a small percentage of people. The exact cause of reactive arthritis is unknown. It may follow an infection with Salmonella enteritidis, Salmonella typhimurium, Yersinia enterocolitica, Campylobacter jejuni, Clostridium difficile, Shigella sonnei, Entamoeba histolytica, Cryptosporidium, or Chlamydia trachomatis. Certain genes may make you more prone to the syndrome. For instance, the condition is observed more commonly in patients with human lymphocyte antigen B27 (HLA-B27) histocompatibility antigens. The goal of treatment is to relieve symptoms and treat any underlying infection. Antibiotics may be prescribed. Nonsteroidal anti-inflammatory drugs (NSAIDS), pain relievers, and corticosteroids may be recommended for those with joint pain.
Question:
What are the symptoms of Reactive arthritis ?

Answer:
What are the signs and symptoms of Reactive arthritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Reactive arthritis. 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 fingernails 90% Abnormality of the oral cavity 90% Abnormality of the urethra 90% Arthralgia 90% Arthritis 90% Cartilage destruction 90% Enthesitis 90% Hyperkeratosis 90% Inflammatory abnormality of the eye 90% Joint swelling 90% Limitation of joint mobility 90% Malabsorption 90% Osteomyelitis 90% Pustule 90% Abdominal pain 50% Abnormality of the pleura 50% Inflammation of the large intestine 50% Abnormal tendon morphology 7.5% Abnormality of temperature regulation 7.5% Abnormality of the aortic valve 7.5% Abnormality of the pericardium 7.5% Photophobia 7.5% Pulmonary fibrosis 7.5% Recurrent urinary tract infections 7.5% Respiratory insufficiency 7.5% Weight loss 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question:
What is (are) Hereditary leiomyomatosis and renal cell cancer ?

Answer:
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a condition that causes benign tumors of smooth muscle tissue in the skin (cutaneous leiomyomas) and in the uterus in females (uterine leiomyomas, or fibroids). The condition also increases the risk of kidney cancer. Signs and symptoms usually begin in adulthood as skin growths appear on the torso, arms, legs, and occasionally on the face. They tend to increase in size and number over time. About 10% to 16% of people with HLRCC develop a type of kidney cancer called renal cell cancer; symptoms of this cancer may include lower back pain, blood in the urine, and/or a mass in the kidney that can be felt by a physician. Some people have no symptoms until the cancer is advanced. HLRCC is caused by mutations in the FH gene and is inherited in an autosomal dominant manner.
Question:
What are the symptoms of Hereditary leiomyomatosis and renal cell cancer ?

Answer:
What are the signs and symptoms of Hereditary leiomyomatosis and renal cell cancer? Signs and symptoms of hereditary leiomyomatosis and renal cell cancer (HLRCC) typically begin in adulthood at an average age of 25. The skin growths (cutaneous leiomyomata) appear as skin-colored or light brown bumps on the torso and extremities, and occasionally on the face. They usually increase in size and number with age. They may be more sensitive than the surrounding skin and be painful. Uterine leiomyomata (fibroids) also occur in almost all affected women and tend to be large and numerous. Most women with these have irregular or heavy periods and pelvic pain. A renal tumor occurs in about 10% to 16% of affected individuals (at an average age of 44 years) and may cause blood in the urine, lower back pain, and a palpable mass. Some people with renal cell cancer have no symptoms until the cancer is advanced. The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary leiomyomatosis and renal cell cancer. 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 musculature 90% Neoplasm of the skin 90% Pruritus 50% Cataract 7.5% Esophageal neoplasm 7.5% Uterine neoplasm 7.5% Vaginal neoplasm 7.5% Cutaneous leiomyosarcoma 5% Autosomal dominant inheritance - Cutaneous leiomyoma - Decreased fumarate hydratase activity - Incomplete penetrance - Multiple cutaneous leiomyomas - Renal cell carcinoma - Uterine leiomyoma - Uterine leiomyosarcoma - 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.