fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Rett syndrome ?
What are the signs and symptoms of Rett syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rett 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 voice 90% Developmental regression 90% Gait disturbance 90% Neurological speech impairment 90% Stereotypic behavior 90% Abnormality of the eye 50% Cerebral cortical atrophy 50% Hypertonia 50% Incoordination 50% Kyphosis 50% Muscle weakness 50% Respiratory insufficiency 50% Scoliosis 50% Seizures 50% Sleep disturbance 50% Tremor 50% Abnormality of the autonomic nervous system 7.5% Apnea 7.5% Arrhythmia 7.5% Autism 7.5% Hemiplegia/hemiparesis 7.5% Hepatomegaly 7.5% Limitation of joint mobility 7.5% Microcephaly 7.5% Reduced bone mineral density 7.5% Self-injurious behavior 7.5% Skeletal muscle atrophy 7.5% Abnormality of the teeth - Autistic behavior - Bruxism - Cachexia - Constipation - Dystonia - EEG abnormality - EKG: T-wave abnormalities - Gait apraxia - Gait ataxia - Gastroesophageal reflux - Intellectual disability, profound - Intermittent hyperventilation - Motor deterioration - Postnatal microcephaly - Prolonged QTc interval - Short foot - Short stature - Spasticity - Truncal ataxia - X-linked 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. + GARD + Rett syndrome
What causes Rett syndrome ?
What causes Rett syndrome? Rett syndrome is typically caused by changes (mutations) in the MECP2 gene. This gene provides instructions for making a protein (MeCP2) needed for the development of the nervous system and normal brain function. Mutations in the MECP2 gene that cause Rett syndrome can change the MeCP2 protein or result in the production of too little protein, which appears to disrupt the normal function of neurons and other cells in the brain. Several conditions caused by changes in other genes (such as FOXG1 syndrome) have overlapping signs and/or symptoms of Rett syndrome. These conditions were once thought to be variant forms of Rett syndrome, but are now usually considered to be separate disorders. + GARD + Rett syndrome
Is Rett syndrome inherited ?
Is Rett syndrome inherited? Although Rett syndrome is a genetic disorder, less than 1 percent of recorded cases are inherited or passed from one generation to the next. Most cases are sporadic, which means the mutation occurs randomly, and are not inherited. A few families have been described with more than one affected family member. These cases helped researchers determine that Rett syndrome has an X-linked dominant pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. + GARD + Rett syndrome
What are the symptoms of Benign recurrent intrahepatic cholestasis ?
What are the signs and symptoms of Benign recurrent intrahepatic cholestasis? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign recurrent intrahepatic cholestasis. 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 urine homeostasis 90% Anorexia 90% Elevated hepatic transaminases 90% Pruritus 90% Weight loss 90% Nausea and vomiting 50% Abdominal pain 7.5% Biliary tract abnormality 7.5% Cirrhosis 7.5% Hearing impairment 7.5% Malabsorption 7.5% Neoplasm of the liver 7.5% Pancreatitis 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. + GARD + Benign recurrent intrahepatic cholestasis
What is (are) Nance-Horan syndrome ?
Nance-Horan syndrome is a rare genetic disorder that may be evident at birth. It is characterized by teeth abnormalities and cataracts, resulting in poor vision. Additional eye abnormalities are also often present, including a very small cornea and nystagmus. In some cases, the condition may also be associated with physical abnormalities and/or intellectual disability. The range and severity of symptoms may vary greatly from one person to another, even among affected members of the same family. Nance-Horan syndrome is caused by a mutation in the NHS gene and is inherited as an X-linked dominant trait, which means that both males and females can be affected, but males often have more severe symptoms.The treatment is directed toward the specific symptoms that are apparent in the individual. + GARD + Nance-Horan syndrome
What causes Nance-Horan syndrome ?
What causes Nance-Horan syndrome? Nance-Horan syndrome is caused by a mutation in the NHS gene, which is located on the X chromosome. Some patients have losses (deletions) of part of the chromosome X short arm (p) within the region involving the NHS gene and other genes that are located in this region. These patients may have more problems and the problems may be more serious. + GARD + Nance-Horan syndrome
Is Nance-Horan syndrome inherited ?
How is Nance-Horan syndrome inherited? Nance-Horan syndrome is inherited as an X-linked dominant trait. In X-linked dominant inheritance, both males and females can be affected by a condition. However, affected males tend to have more severe features than females. X-linked conditions result from mutations of a gene located on an X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. In females, disease traits resulting from the abnormal copy of a gene on one X chromosome can be 'masked' by the normal copy of the gene on the other X chromosome. Because only one functioning X chromosome is required in males and females, one of the X chromosomes in each cell of a female is essentially 'turned off,' usually in a random pattern (X chromosome inactivation). Therefore, if the X chromosome with the gene mutation is activated in some cells, female carriers may have some mild features of the disorder. However, since males only have one X chromosome, they will likely fully express a condition if they inherit a gene mutation that is located on the X chromosome. + GARD + Nance-Horan syndrome
What is (are) Hypoplastic left heart syndrome ?
Hypoplastic left heart syndrome (HLHS) is a problem with the hearts structure that is present at birth (congenital). It occurs when parts of the left side of the heart (mitral valve, left ventricle, aortic valve, and aorta) do not develop completely. The underdeveloped left side of the heart is unable to provide enough blood flow to the body, which decreases the oxygen-rich blood supply. Babies with HLHS might look normal at birth, but will develop symptoms of HLHS within a few days. These symptoms might include: poor feeding, problems breathing, pounding heart, weak pulse, and ashen or bluish skin color. The cause of HLHs is presently unknown. + GARD + Hypoplastic left heart syndrome
What are the symptoms of Hypoplastic left heart syndrome ?
What are the signs and symptoms of Hypoplastic left heart syndrome? Normally, oxygen-poor blood is pumped through the right side of the heart to the lungs, where it gains oxygen and returns to the left side of the heart. The oxygen-rich blood is then pumped from the left side of the heart to the rest of the body. At birth, all babies also have two connections, or shunts, between the two sides of the heart; however, within a few days of birth these connections close. In those with HLHS, the underdeveloped left side of the heart is unable to provide enough blood flow to the body. The normal shunts present at birth help to direct blood to the body; when these connections close the oxygen-rich blood supply decreases. At first, a newborn with HLHS may appear normal. Symptoms usually occur in the first few hours of life, although it may take up to a few days to develop symptoms. These symptoms may include: Bluish (cyanosis) or poor skin color Cold hands and feet (extremities) Lethargy Poor pulse Poor suckling and feeding Pounding heart Rapid breathing Shortness of breath In healthy newborns, bluish color in the hands and feet is a response to cold (this reaction is called peripheral cyanosis). However, a bluish color in the chest or abdomen, lips, and tongue is abnormal (called central cyanosis). It is a sign that there is not enough oxygen in the blood. Central cyanosis often increases with crying. The Human Phenotype Ontology provides the following list of signs and symptoms for Hypoplastic left heart 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) Hypoplastic left heart 90% Abnormality of the aorta 50% Abnormality of chromosome segregation 7.5% Abnormality of the mitral valve 7.5% Atria septal defect 7.5% Maternal diabetes 7.5% Patent ductus arteriosus 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. + GARD + Hypoplastic left heart syndrome
What are the treatments for Hypoplastic left heart syndrome ?
How might hypoplastic left heart syndrome (HLHS) be treated? Once the diagnosis of HLHS is made, the baby will be admitted to the neonatal intensive care unit. A breathing machine (ventilator) may be needed to help the baby breathe. A medicine called prostaglandin E1 is used to keep blood circulating to the body by keeping the ductus arteriosus open. These measures do not solve the problem and ultimately, the baby will require surgery. The first surgery, called the Norwood operation, occurs within the baby's first few days of life. Stage I of the Norwood procedure consists of building a new aorta by: Using the pulmonary valve and artery Connecting the hypoplastic old aorta and coronary arteries to the new aorta Removing the wall between the atria (atrial septum) Making an artificial connection from either the right ventricle or a body-wide artery to the pulmonary artery to maintain blood flow to the lungs (called a shunt) Afterwards, the baby usually goes home. The child will need to take daily medicines and be closely followed by a pediatric cardiologist, who will determine when the second stage of surgery should be done. Stage II of the operation is called the Glenn shunt or hemi-Fontan procedure. This procedure connects the major vein carrying blue blood from the top half of the body (the superior vena cava) directly to blood vessels to the lungs (pulmonary arteries) to get oxygen. The surgery is usually done when the child is 4 to 6 months of age. During stages I and II, the child may still appear somewhat blue (cyanotic).Stage III, the final step, is called the Fontan procedure. The rest of the veins that carry blue blood from the body (the inferior vena cava) are connected directly to the blood vessels to the lungs. The right ventricle now serves only as the pumping chamber for the body (no longer the lungs and the body). This surgery is usually performed when the baby is 18 months - 3 years old. After this final step, the baby is no longer blue. Some patients may need more surgeries in their 20s or 30s if they develop hard to control arrhythmias or other complications of the Fontan procedure. In some hospitals, heart transplantation is considered a better choice than the three-step surgery process. However, there are few donated hearts available for small infants. + GARD + Hypoplastic left heart syndrome
What are the symptoms of Thin basement membrane nephropathy ?
What are the signs and symptoms of Thin basement membrane nephropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Thin basement membrane nephropathy. 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 - Hematuria - Nonprogressive - Thin glomerular basement membrane - 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. + GARD + Thin basement membrane nephropathy
What are the symptoms of Multiple endocrine neoplasia type 2B ?
What are the signs and symptoms of Multiple endocrine neoplasia type 2B? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple endocrine neoplasia type 2B. 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 - Aganglionic megacolon - Autosomal dominant inheritance - Colonic diverticula - Constipation - Diarrhea - Disproportionate tall stature - Elevated calcitonin - Elevated urinary epinephrine - Failure to thrive in infancy - Ganglioneuroma - High palate - Hyperlordosis - Joint laxity - Kyphosis - Medullary thyroid carcinoma - Muscular hypotonia - Myopathy - Nodular goiter - Parathyroid hyperplasia - Pectus excavatum - Pes cavus - Pheochromocytoma - Proximal femoral epiphysiolysis - Scoliosis - Thick eyebrow - Thick lower lip vermilion - 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. + GARD + Multiple endocrine neoplasia type 2B
What is (are) Chromosome 8q deletion ?
Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. + GARD + Chromosome 8q deletion
What are the symptoms of Multiple epiphyseal dysplasia 4 ?
What are the signs and symptoms of Multiple epiphyseal dysplasia 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia 4. 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 epiphysis morphology 90% Osteoarthritis 90% Arthralgia 50% Cleft palate 50% Clinodactyly of the 5th finger 50% Patellar aplasia 50% Scoliosis 50% Talipes 50% Hearing abnormality 7.5% Short stature 7.5% Autosomal recessive inheritance - Brachydactyly syndrome - Epiphyseal dysplasia - Flat capital femoral epiphysis - Hip dysplasia - Hypoplasia of the femoral head - Limited elbow flexion - Multiple epiphyseal dysplasia - Short metacarpal - Talipes equinovarus - 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. + GARD + Multiple epiphyseal dysplasia 4
What are the symptoms of Flynn Aird syndrome ?
What are the signs and symptoms of Flynn Aird syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Flynn Aird 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) Aplasia/Hypoplasia of the skin 90% Myopia 90% Sensorineural hearing impairment 90% Visual impairment 90% Abnormality of retinal pigmentation 50% Atherosclerosis 50% Bone cyst 50% Carious teeth 50% Cataract 50% Decreased body weight 50% Developmental regression 50% EEG abnormality 50% Impaired pain sensation 50% Incoordination 50% Kyphosis 50% Limitation of joint mobility 50% Neurological speech impairment 50% Scoliosis 50% Seizures 50% Skeletal muscle atrophy 50% Skin ulcer 50% Abnormality of movement 7.5% Abnormality of the thyroid gland 7.5% Cerebral calcification 7.5% Cerebral cortical atrophy 7.5% Primary adrenal insufficiency 7.5% Type II diabetes mellitus 7.5% Alopecia - Aphasia - Ataxia - Autosomal dominant inheritance - Dementia - Dermal atrophy - Hyperkeratosis - Increased bone density with cystic changes - Increased CSF protein - Joint stiffness - Kyphoscoliosis - Osteoporosis - Progressive sensorineural hearing impairment - Rod-cone dystrophy - 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. + GARD + Flynn Aird syndrome