sarnsrun/medquad huggingface dataset:
Topic: Arthrogryposis renal dysfunction cholestasis syndrome
Question: What are the symptoms of Arthrogryposis renal dysfunction cholestasis syndrome ?
Answer: What are the signs and symptoms of Arthrogryposis renal dysfunction cholestasis syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Arthrogryposis renal dysfunction cholestasis 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 renal tubule 90% Abnormality of thrombocytes 90% Cognitive impairment 90% Limitation of joint mobility 90% Low-set, posteriorly rotated ears 90% Abnormal renal physiology 50% Abnormality of coagulation 50% Abnormality of temperature regulation 50% Aminoaciduria 50% Diabetes insipidus 50% Hepatomegaly 50% Ichthyosis 50% Malabsorption 50% Muscular hypotonia 50% Oligohydramnios 50% Recurrent fractures 50% Rocker bottom foot 50% Skeletal muscle atrophy 50% Talipes 50% Abnormality of the cardiac septa 7.5% Abnormality of the hip bone 7.5% Abnormality of the palate 7.5% Anemia 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cirrhosis 7.5% Convex nasal ridge 7.5% Cutis laxa 7.5% Depressed nasal bridge 7.5% Hypothyroidism 7.5% Kyphosis 7.5% Nephrolithiasis 7.5% Pectus carinatum 7.5% Sensorineural hearing impairment 7.5% Upslanted palpebral fissure 7.5% Abnormal bleeding 5% Lissencephaly 5% Nephrogenic diabetes insipidus 5% Atria septal defect - Autosomal recessive inheritance - Cholestatic liver disease - Conjugated hyperbilirubinemia - Death in infancy - Dehydration - Elevated hepatic transaminases - Failure to thrive - Giant cell hepatitis - Hip dysplasia - Jaundice - Low-set ears - Metabolic acidosis - Microcephaly - Nephrocalcinosis - Nephropathy - Renal tubular acidosis - Right ventricular hypertrophy - Sloping forehead - Talipes calcaneovalgus - Ventricular septal defect - 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: Jansen type metaphyseal chondrodysplasia
Question: What are the symptoms of Jansen type metaphyseal chondrodysplasia ?
Answer: What are the signs and symptoms of Jansen type metaphyseal chondrodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Jansen type metaphyseal chondrodysplasia. 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) Craniofacial hyperostosis 90% Frontal bossing 90% Hypertelorism 90% Micromelia 90% Proptosis 90% Abnormality of calcium-phosphate metabolism 50% Brachydactyly syndrome 50% Clinodactyly of the 5th finger 50% Hypercalcemia 50% Hypoparathyroidism 50% Increased bone mineral density 50% Narrow chest 50% Sensorineural hearing impairment 7.5% Autosomal dominant inheritance - Bowing of the long bones - Brachycephaly - Choanal atresia - Choanal stenosis - Clubbing of fingers - Elevated alkaline phosphatase - Hip contracture - Hypercalciuria - Hyperphosphaturia - Hypophosphatemia - Knee flexion contracture - Metaphyseal chondrodysplasia - Metaphyseal cupping - Misalignment of teeth - Nephrocalcinosis - Osteopenia - Pathologic fracture - Prominent supraorbital arches in adult - Severe short stature - Short long bone - Short ribs - Thick skull base - Waddling gait - 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: Pendred syndrome
Question: What is (are) Pendred syndrome ?
Answer: Pendred syndrome is a condition usually characterized by sensorineural hearing loss in both ears (bilateral) and euthyroid goiter (enlargement of the thyroid gland with normal thyroid gland function). The amount of hearing loss varies among affected people. In many cases, significant hearing loss is present at birth. In other cases, hearing loss does not develop until later in infancy or childhood. Some people have problems with balance caused by dysfunction of the part of the inner ear that helps with balance and orientation (the vestibular system). Pendred syndrome is inherited in an autosomal recessive manner. Mutations in 3 genes are currently known to cause the condition (SLC26A4, FOXI1, and KCNJ10) and are found in about half of affected people. Other genes responsible for the condition have not yet been identified.
Source: GARD
Topic: Pendred syndrome
Question: What are the symptoms of Pendred syndrome ?
Answer: What are the signs and symptoms of Pendred syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pendred 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) Sensorineural hearing impairment 90% Goiter 50% Hypothyroidism 50% Cognitive impairment 7.5% Hyperparathyroidism 7.5% Incoordination 7.5% Neoplasm of the thyroid gland 7.5% Nephropathy 7.5% Neurological speech impairment 7.5% Respiratory insufficiency 7.5% Tracheal stenosis 7.5% Vertigo 7.5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Cochlear malformation - Compensated hypothyroidism - Congenital sensorineural hearing impairment - Intellectual disability - Thyroid carcinoma - Vestibular dysfunction - 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: Pendred syndrome
Question: Is Pendred syndrome inherited ?
Answer: How is Pendred syndrome inherited? Pendred syndrome is inherited in an autosomal recessive manner. For most autosomal recessive conditions, a person must have 2 changed (mutated) copies of the responsible gene in each cell in order to have the condition. One changed copy of the responsible gene is usually inherited from each parent; the parents are referred to as carriers. Carriers typically do not have signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% chance to not be a carrier and not have the condition. Pendred syndrome can be caused either by having mutations in both copies of the SLC26A4 gene (more commonly), or by having one mutation in the SLC26A4 gene and one mutation in another gene.
Source: GARD
Topic: Van Buchem disease type 2
Question: What are the symptoms of Van Buchem disease type 2 ?
Answer: What are the signs and symptoms of Van Buchem disease type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Van Buchem disease type 2. 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 - Mandibular prognathia - Thickened calvaria - Thickened cortex of long bones - 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: Chronic intestinal pseudoobstruction
Question: What is (are) Chronic intestinal pseudoobstruction ?
Answer: Chronic intestinal pseudo-obstruction (CIPO) is a rare but serious condition characterized by repetitive episodes or continuous symptoms of bowel obstruction when no blockage exists. The most common symptoms are abdominal swelling or bloating (distention), vomiting, abdominal pain, failure to thrive, diarrhea, constipation, feeding intolerance and urinary symptoms. CIPO can occur in people of any age. It may be primary or secondary. Problems with nerves, muscles, or interstitial cells of Cajal (the cells that set the pace of intestinal contractions) prevent normal contractions and cause problems with the movement of food, fluid, and air through the intestines. Primary or idiopathic (where the cause is unknown) CIPO occurs by itself. Secondary CIPO develops as a complication of another medical condition. Some people with primary CIPO have gain or loss of genetic material in the FLNA gene. The diagnosis of CIPO is clinical and other conditions with similar symptoms should be ruled out. Treatment may include nutritional support, medications, decompression or surgery. Management may require specialists from a variety of backgrounds.
Source: GARD
Topic: Chronic intestinal pseudoobstruction
Question: What are the symptoms of Chronic intestinal pseudoobstruction ?
Answer: What are the signs and symptoms of Chronic intestinal pseudoobstruction? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic intestinal pseudoobstruction. 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) Intestinal malrotation 50% Morphological abnormality of the central nervous system 50% Pyloric stenosis 50% Abnormality of thrombocytes 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.
Source: GARD
Topic: Optic atrophy 2
Question: What are the symptoms of Optic atrophy 2 ?
Answer: What are the signs and symptoms of Optic atrophy 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 2. 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) Absent Achilles reflex - Babinski sign - Dysarthria - Dysdiadochokinesis - Hyperactive patellar reflex - Intellectual disability - Optic atrophy - Tremor - X-linked 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: Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification
Question: What are the symptoms of Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification ?
Answer: What are the signs and symptoms of Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification? The Human Phenotype Ontology provides the following list of signs and symptoms for Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cerebral berry aneurysm - Cirrhosis - Emphysema - Hepatic failure - Nonarteriosclerotic cerebral calcification - Portal hypertension - Seizures - 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.
Source: GARD
Topic: Congenital alopecia X-linked
Question: What are the symptoms of Congenital alopecia X-linked ?
Answer: What are the signs and symptoms of Congenital alopecia X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital alopecia X-linked. 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 eye 90% Abnormality of the skin 90% Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Hypotrichosis - X-linked 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: Cerebellar degeneration
Question: What is (are) Cerebellar degeneration ?
Answer: Cerebellar degeneration refers to the deterioration of neurons in the cerebellum (the area of the brain that controls muscle coordination and balance). Conditions that cause cerebellar degeneration may also affect other areas of the central nervous system, such as the spinal cord, the cerebral cortex, and the brain stem. Signs and symptoms of cerebellar degeneration may include a wide-based, uncoordinated walk; a back and forth tremor in the trunk of the body; uncoordinated movements of the arms and legs; slow and slurred speech; and nystagmus. Cerebellar degeneration can be caused by a variety of factors including inherited gene changes (mutations), chronic alcohol abuse, and paraneoplastic disorders. Treatment for cerebellar degeneration varies depending on the underlying cause.
Source: GARD
Topic: Cerebellar degeneration
Question: What are the symptoms of Cerebellar degeneration ?
Answer: What are the signs and symptoms of cerebellar degeneration? Cerebellar degeneration is primarily characterized by a wide-legged, unsteady, lurching walk that is usually accompanied by a back and forth tremor in the trunk of the body. Other signs and symptoms may include slow, unsteady and jerky movement of the arms or legs; slowed and slurred speech; and nystagmus. Although cerebellar disorders usually strike adults in middle age, the age of symptomatic onset varies depending on the underlying cause of the degeneration. Studies have shown that many patients with movement disorders caused by damage to the cerebellum also have psychiatric symptoms. These studies suggest that patients with cerebellar diseases may benefit from screening and treatment of psychiatric disorders.
Source: GARD
Topic: Cerebellar degeneration
Question: What causes Cerebellar degeneration ?
Answer: What causes cerebellar degeneration? Cerebellar degeneration can be caused by a variety of different conditions. Neurological diseases that can lead to cerebellar degeneration include: Acute and hemorrhagic stroke can result in a lack of blood flow or oxygen to the brain, leading to the death of neurons in the cerebellum and other brain structures. Cerebellar cortical atrophy, multisystem atrophy and olivopontocerebellar degeneration are progressive degenerative disorders that affect various parts of the nervous system, including the cerebellum. Spinocerebellar ataxias, including Friedreich ataxia, are caused by inherited changes (mutations) in many different genes and are characterized by cell death in the cerebellum, brain stem, and spinal cord. Transmissible spongiform encephalopathies (such as 'Mad Cow Disease' and Creutzfeldt-Jakob disease) are associated with inflammation of the brain, particularly in the cerebellum, that is caused by abnormal proteins. Multiple sclerosis occurs when the insulating membrane (myelin) that wraps around and protects nerve cells (including those of the cerebellum) become damaged. Other conditions that can lead to temporary or permanent cerebellar damage include chronic alcohol abuse and paraneoplastic disorders.
Source: GARD
Topic: Cerebellar degeneration
Question: Is Cerebellar degeneration inherited ?
Answer: Is cerebellar degeneration inherited? Cerebellar degeneration is associated with a variety of inherited and non-inherited conditions. One example of an inherited form of cerebellar degeneration is spinocerebellar ataxia (SCA), which refers to a group of conditions characterized by degenerative changes of the cerebellum, brain stem, and spinal cord. Depending on the type, SCA can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Other complex conditions such as multiple sclerosis and multisystem atrophy are also associated with cerebellar degeneration. These conditions are likely caused by the interaction of multiple genetic and environmental factors. Although complex conditions are not passed directly from parent to child, reports of familial forms exist. This suggests that a genetic susceptibility to these conditions can run in families. Many causes of cerebellar degeneration are acquired (non-genetic and non-inherited) including strokes, transmissible spongiform encephalopathies, chronic alcohol abuse and paraneoplastic disorders.
Source: GARD