bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Dwarfism tall vertebrae? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism tall vertebrae. 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 - Coxa vara - Increased vertebral height - Severe short stature - 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.
Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptoms associated with triploidy vary but may include a variety of birth defects and an unusually small size. This condition does not run in families and is not associated with maternal or paternal age. Treatment is based on the signs and symptoms present in each person.
What are the signs and symptoms of Triploidy? The Human Phenotype Ontology provides the following list of signs and symptoms for Triploidy. 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 chromosome segregation 90% Abnormality of the fontanelles or cranial sutures 90% Cryptorchidism 90% Decreased skull ossification 90% Displacement of the external urethral meatus 90% Hypertelorism 90% Hypoplasia of penis 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Wide mouth 90% Abnormality of the tongue 50% Aplasia/Hypoplasia affecting the eye 50% Cataract 50% Cleft palate 50% Finger syndactyly 50% Hepatomegaly 50% Iris coloboma 50% Narrow chest 50% Non-midline cleft lip 50% Omphalocele 50% Polyhydramnios 50% Abnormality of the cardiac septa 7.5% Abnormality of the gallbladder 7.5% Abnormality of the pancreas 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Holoprosencephaly 7.5% Hydrocephalus 7.5% Intestinal malrotation 7.5% Macrocephaly 7.5% Meningocele 7.5% Narrow mouth 7.5% Short neck 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.
Erythropoietic protoporphyria is a type of porphyria. Porphyrias are caused by an abnormality in the heme production process. Heme is essential in enabling our blood cells to carry oxygen and in breaking down chemical compounds in the liver. Erythropoietic protoporphyria is caused by impaired activity of ferrocheletase (FECH), an important enzyme in heme production. This results in the build-up of protoporphyrin in the bone marrow, red blood cells, blood plasma, skin, and eventually liver. Build up of protoporphyrin can cause extreme sensitivity to sunlight, liver damage, abdominal pain, gallstones, and enlargement of the spleen.
What are the signs and symptoms of Erythropoietic protoporphyria? The Human Phenotype Ontology provides the following list of signs and symptoms for Erythropoietic protoporphyria. 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) Cutaneous photosensitivity 90% Urticaria 90% Biliary tract abnormality 7.5% Cirrhosis 7.5% Eczema 7.5% Edema 7.5% Microcytic anemia 7.5% Autosomal dominant inheritance - Autosomal recessive inheritance - Childhood onset - Cholelithiasis - Erythema - Hemolytic anemia - Hepatic failure - Hypertriglyceridemia - Pruritus - 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.
How is erythropoietic protoporphyria (EPP) inherited? EPP is inherited in an autosomal recessive manner. In most cases, affected individuals have one severe (loss-of-function) mutation that is inherited from one parent, and another weak (low-expression) mutation that is inherited from the other parent. In a small number of cases, an affected individual has two loss-of-function mutations. 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% (1 in 4) chance to be unaffected and not be a carrier
Fine-Lubinsky syndrome (FLS) is a very rare syndrome that affects various parts of the body. Signs and symptoms can vary and may include brachycephaly or plagiocephaly; structural brain abnormalities; abnormal EEG; intellectual disability; deafness; eye conditions (cataracts or glaucoma); distinctive facial features; and body asymmetry. The underlying cause of FLS remains unknown. Almost all cases have been sporadic (occurring in people with no family history of FLS) with the exception of 2 affected siblings, suggesting it was inherited in an autosomal recessive manner.
What causes Fine-Lubinsky syndrome? The cause of Fine-Lubinsky syndrome remains unknown. With the exception of one family report of an affected brother and sister (suggesting an autosomal recessive inheritance pattern), all other cases have been sporadic (occurring in people with no family history of FLS). Additional reports are needed to identify a possible genetic cause of FLS. While karyotypes (pictures of chromosomes) were reportedly normal in affected people, the presence of a very small chromosomal rearrangement (too small to detect with a karyotype) as a possible cause for FLS has not been ruled out.
How is Fine-Lubinsky syndrome inherited? Almost all people reported to have FineLubinsky syndrome (FLS) have been the only affected people in their families (these cases were sporadic). There has been one report of an affected brother and sister with unaffected parents, suggesting autosomal recessive inheritance. Additional reports are needed to identify a possible genetic cause for the condition. Parents of a child with FLS should be aware that if the condition is inherited in an autosomal recessive manner, each of their children has a 25% (1 in 4) risk to be affected. Although karyotypes (pictures of chromosomes) have been reported as normal in affected people, the presence of a very small chromosomal rearrangement has not been excluded as a possible cause of FLS.
How is Fine-Lubinsky syndrome diagnosed? In 2009, Corona-Rivera et. al reviewed the signs and symptoms reported in people diagnosed with Fine-Lubinsky syndrome (FLS). They identified key signs for diagnosis as: non-synostotic (without synostosis) brachycephaly (short or broad head) or plagiocephaly (flattening of the head); structural brain anomalies; abnormal EEG; intellectual disability; deafness; ocular (eye) abnormalities including cataracts or glaucoma; distinctive facial features involving high/wide forehead, shallow orbits, flat/round face, low-set posteriorly rotated ears, and microstomia (small mouth); and body asymmetry.
What are the signs and symptoms of Keratosis palmoplantaris striata 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis palmoplantaris striata 1. 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) Hyperhidrosis 5% Autosomal dominant inheritance - Palmoplantar keratoderma - Streaks of hyperkeratosis along each finger onto the palm - 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.
Hypoaldosteronism is a condition characterized by the shortage (deficiency) or impaired function of a hormone called aldosterone. Hypoaldosteronism may be described as hyporeninemic or hyperreninemic depending on renin levels. Hyporeninemic hypoaldosteronism occurs when there is decreased production of aldosterone due to decreased production of renin . Affected individuals typically have kidney (renal) disease due to various conditions, such as diabetes, interstitial nephritis, or multiple myeloma. Hyperreninemic hypoaldosteronism occurs when there is a problem with the production of aldosterone, but renin is produced normally by the kidneys. Common causes of this form of hypoaldosteronism are medications (ACE inhibitors), lead poisoning, severe illness, and aldosterone enzyme defects.
How might hypoaldosteronism be treated? Treatment for hypoaldosteronism depends on the underlying condition. Affected individuals are often advised to follow a low-potassium diet with liberal sodium intake. People with hypoaldosteronism should typically avoid ACE inhibitors and potassium-sparing diuretics. Individuals with hypoaldosteronism and a deficiency of adrenal glucocorticoid hormones are usually given fludrocortisone. People with hyporeninemic hypoaldosteronism are frequently given furosemide to correct hyperkalemia.
LCHAD deficiency, or long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, is a mitochondrial condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms typically appear during infancy or early childhood and can include feeding difficulties, lack of energy, low blood sugar (hypoglycemia), weak muscle tone (hypotonia), liver problems, and abnormalities in the retina. Later in childhood, people with this condition may experience muscle pain, breakdown of muscle tissue, and peripheral neuropathy. Individuals with LCHAD deficiency are also at risk for serious heart problems, breathing difficulties, coma, and sudden death. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the HADHA gene.[OMIM]
What are the signs and symptoms of LCHAD deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for LCHAD 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) Cardiomyopathy - Hepatomegaly - Hypoglycemia - Long chain 3 hydroxyacyl coA dehydrogenase deficiency - Muscular hypotonia - Pigmentary retinopathy - Sudden death - 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 signs and symptoms of Acromesomelic dysplasia Hunter Thompson type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acromesomelic dysplasia Hunter Thompson type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the ankles 90% Brachydactyly syndrome 90% Elbow dislocation 90% Micromelia 90% Neurological speech impairment 90% Short stature 90% Single transverse palmar crease 90% Tarsal synostosis 90% Abnormality of the hip bone 50% Abnormality of the wrist 50% Cognitive impairment 50% Limitation of joint mobility 50% Patellar dislocation 50% Scoliosis 50% Abnormally shaped carpal bones - Acromesomelia - Autosomal recessive inheritance - Cuboidal metacarpal - Distal femoral bowing - Hip dislocation - Hypoplasia of the radius - Hypoplasia of the ulna - Radial bowing - Severe short-limb dwarfism - Short foot - Short thumb - Short tibia - Shortening of all middle phalanges of the fingers - Shortening of all proximal phalanges of the fingers - 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 signs and symptoms of Phosphoglycerate kinase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Phosphoglycerate kinase 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) Hemolytic anemia 60% Myopathy 45% Renal insufficiency 7.5% Retinal dystrophy 5% Visual loss 5% Ataxia - Delayed speech and language development - Emotional lability - Exercise intolerance - Exercise-induced muscle cramps - Exercise-induced myoglobinuria - Intellectual disability - Migraine - Phenotypic variability - Reticulocytosis - Rhabdomyolysis - Seizures - 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.
Myelofibrosis is a disorder of the bone marrow, in which the marrow is replaced by fibrous (scar) tissue. Scarring of the bone marrow causes anemia, which can lead to fatigue and weakness, as well as pooling of the blood in abnormal sites like the liver and spleen, causing these organs to swell. Although myelofibrosis can occur at any age, it typically develops after the age of 50. In most cases, myelofibrosis gets progressively worse. Treatment is aimed at relieving signs and symptoms and may include medications, blood transfusions, chemotherapy, radiation therapy and surgery.
What are the signs and symptoms of Myelofibrosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Myelofibrosis. 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 - Myelofibrosis - Myeloproliferative disorder - 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.
22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a chromosome abnormality caused by the loss (deletion) of a small piece of chromosome 22. The deletion occurs near the end of the long arm (or q arm) at a location designated as q13.3. The signs and symptoms of this condition vary widely from person to person. Common symptoms include low muscle tone (hypotonia), intellectual disability, delayed or absent speech, abnormal growth, tendency to overheat, large hands, and abnormal toenails. Affected individuals may have characteristic behaviors, such as mouthing or chewing on non-food items, decreased perception of pain, and autistic-like behaviors. The loss of a particular gene on chromosome 22, called the SHANK3 gene, is likely responsible for many of the signs and symptoms of 22q13.3 deletion syndrome. Additional genes within the deleted region probably contribute to the variable features of the syndrome.