sarnsrun/medquad huggingface dataset:
Topic: Desmosterolosis
Question: What are the symptoms of Desmosterolosis ?
Answer: What are the signs and symptoms of Desmosterolosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Desmosterolosis. 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 corpus callosum 90% Cleft palate 90% Cognitive impairment 90% Hypertonia 90% Intrauterine growth retardation 90% Microcephaly 90% Short stature 90% Abnormality of the ribs 50% Aplasia/Hypoplasia involving the nose 50% Depressed nasal bridge 50% Large earlobe 50% Low-set, posteriorly rotated ears 50% Narrow mouth 50% Nystagmus 50% Seizures 50% Strabismus 50% Ventriculomegaly 50% Abnormality of neuronal migration 7.5% Anomalous pulmonary venous return 7.5% Aplasia/Hypoplasia of the skin 7.5% Epicanthus 7.5% Frontal bossing 7.5% Hydrocephalus 7.5% Increased bone mineral density 7.5% Intestinal malrotation 7.5% Limb undergrowth 7.5% Macrocephaly 7.5% Patent ductus arteriosus 7.5% Renal hypoplasia/aplasia 7.5% Splenomegaly 7.5% Talipes 7.5% Abnormality of cholesterol metabolism 2/2 Aplasia/Hypoplasia of the corpus callosum 2/2 Cleft palate 2/2 Alveolar ridge overgrowth 1/2 Ambiguous genitalia, female 1/2 Ambiguous genitalia, male 1/2 Bilateral talipes equinovarus 1/2 Cupped ear 1/2 Epicanthus 1/2 Frontal bossing 1/2 Generalized osteosclerosis 1/2 Gingival fibromatosis 1/2 Hypoplastic nasal bridge 1/2 Joint contracture of the hand 1/2 Low-set ears 1/2 Macrocephaly 1/2 Microcephaly 1/2 Patent ductus arteriosus 1/2 Posteriorly rotated ears 1/2 Rhizomelia 1/2 Total anomalous pulmonary venous return 1/2 Anteverted nares - Autosomal recessive inheritance - Failure to thrive - Partial agenesis of the corpus callosum - Phenotypic variability - Relative macrocephaly - Short nose - Spasticity - 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: Binswanger's disease
Question: What is (are) Binswanger's disease ?
Answer: Binswanger's disease is a type of dementia caused by widespread, microscopic areas of damage to the deep layers of white matter in the brain. Most affected people experience progressive memory loss and deterioration of intellectual abilities (dementia); urinary urgency or incontinence; and an abnormally slow, unsteady gait (style of walking). While there is no cure, the progression of Binswanger's disease can be slowed with healthy lifestyle choices. Treatment is based on the signs and symptoms present in each person.
Source: GARD
Topic: Binswanger's disease
Question: What are the symptoms of Binswanger's disease ?
Answer: What are the signs and symptoms of Binswanger's disease? The signs and symptoms associated with Binswanger's disease generally disrupt tasks related to "executive cognitive functioning," including short-term memory, organization, mood, the regulation of attention, the ability to make decisions, and appropriate behavior. Binswanger's disease is primarily characterized by psychomotor slowness - an increase in the length of time it takes, for example, for the fingers to turn the thought of a letter into the shape of a letter on a piece of paper. Other symptoms include forgetfulness (but not as severe as the forgetfulness of Alzheimer disease); changes in speech; an unsteady gait; clumsiness or frequent falls; changes in personality or mood (most likely in the form of apathy, irritability, and depression); and urinary symptoms that aren't caused by urological disease.
Source: GARD
Topic: Binswanger's disease
Question: What causes Binswanger's disease ?
Answer: What causes Binswanger's disease? Binswanger's disease occurs when the blood vessels that supply the deep structures of the brain become obstructed (blocked). As the arteries become more and more narrowed, the blood supplied by those arteries decreases and brain tissue dies. This can be caused by atherosclerosis, thromboembolism (blood clots) and other diseases such as CADASIL. Risk factors for Binswanger's disease include: Hypertension Smoking Hypercholesterolemia Heart disease Diabetes mellitus
Source: GARD
Topic: Binswanger's disease
Question: Is Binswanger's disease inherited ?
Answer: Is Binswanger's disease an inherited condition? Although Binswanger's disease is not considered an inherited condition, genetics may play a role in many of the conditions and risk factors that are associated with the disease (i.e. atherosclerosis, blood clots).
Source: GARD
Topic: Binswanger's disease
Question: How to diagnose Binswanger's disease ?
Answer: How is Binswanger's disease diagnosed? A diagnosis of Binswanger's disease is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This generally consists of imaging studies of the brain (i.e. CT scan and/or MRI scan).
Source: GARD
Topic: Binswanger's disease
Question: What are the treatments for Binswanger's disease ?
Answer: How is Binswanger's disease treated? The brain damage associated with Binswanger's disease is not reversible. Treatment is based on the signs and symptoms present in each person. For example, medications may be prescribed to treat depression, agitation, and other symptoms associated with the condition. Successful management of hypertension and diabetes can slow the progression of atherosclerosis, which can delay the progression of Binswanger's disease.
Source: GARD
Topic: Gamma aminobutyric acid transaminase deficiency
Question: What is (are) Gamma aminobutyric acid transaminase deficiency ?
Answer: GABA (gamma-aminobutyric acid) is an important molecule which slows down the activity of cells in the brain.[1] GABA is broken down in the body by a substance known as 4-aminobutyrate aminotransferase, also known as GABA-transaminase or GABA-T.[1] Mutations in the ABAT gene can cause less GABA-T to be made, a condition known as GABA-T deficiency.[1] The symptoms for an individual with GABA-T deficiency can include: psychomotor retardation (a slowing down of thought and activity), low muscle tone, hyperactive responses, lethargy, seizures, and EEG abnormalities.[1] GABA-T deficiency is very rare, with fewer than 5 cases reported in the literature.[2] It is thought to be inherited in an autosomal recessive manner.[3][4]
Source: GARD
Topic: Choroidal dystrophy central areolar
Question: What are the symptoms of Choroidal dystrophy central areolar ?
Answer: What are the signs and symptoms of Choroidal dystrophy central areolar? The Human Phenotype Ontology provides the following list of signs and symptoms for Choroidal dystrophy central areolar. 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 - Choriocapillaris atrophy - Chorioretinal atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Xeroderma pigmentosum type 7
Question: What are the symptoms of Xeroderma pigmentosum type 7 ?
Answer: What are the signs and symptoms of Xeroderma pigmentosum type 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Xeroderma pigmentosum type 7. 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) Ataxia 5% Cataract 5% Growth delay 5% Microcephaly 5% Microphthalmia 5% Pes cavus 5% Spasticity 5% Tremor 5% Autosomal recessive inheritance - Cutaneous photosensitivity - Defective DNA repair after ultraviolet radiation damage - 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: Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
Question: What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type A ?
Answer: What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type A? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type A. 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) Areflexia - Autosomal dominant inheritance - Axonal degeneration/regeneration - Distal sensory impairment - Foot dorsiflexor weakness - Hyporeflexia - Muscle cramps - Onion bulb formation - Onset - Pes cavus - Segmental peripheral demyelination - Segmental peripheral demyelination/remyelination - Steppage 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: Familial hemiplegic migraine type 3
Question: What is (are) Familial hemiplegic migraine type 3 ?
Answer: Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and may last from a few hours to a few days. People with familial hemiplegic migraine experience an aura that comes before the headache. The most common symptoms associated with an aura are temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with familial hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). An aura typically develops gradually over a few minutes and lasts about an hour. Researchers have identified three forms of familial hemiplegic migraine known as FHM1, FHM2, and FHM3. Each of the three types is caused by mutations in a different gene.
Source: GARD
Topic: Familial hemiplegic migraine type 3
Question: What are the symptoms of Familial hemiplegic migraine type 3 ?
Answer: What are the signs and symptoms of Familial hemiplegic migraine type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hemiplegic migraine 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) Abnormality of movement 90% Hemiplegia/hemiparesis 90% Incoordination 50% Nystagmus 50% Abnormality of retinal pigmentation 7.5% EEG abnormality 7.5% Neurological speech impairment 7.5% Sensorineural hearing impairment 7.5% Autosomal dominant inheritance - Blindness - Hemiparesis - Hemiplegia - Migraine with aura - Photophobia - Seizures - 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: Giant axonal neuropathy
Question: What is (are) Giant axonal neuropathy ?
Answer: Giant axonal neuropathy (GAN) is a neurodegenerative disorder characterized by abnormally large and dysfunctional axons (the specialized extensions of nerve cells that are required for the transmission of nerve impulses). The condition typically appears in infancy or early childhood with severe peripheral motor and sensory neuropathy (affecting movement and sensation in the arms and legs). Early signs include difficulty walking, lack of coordination, and loss of strength. Over time, the central nervous system (brain and spinal cord) becomes involved, causing a gradual decline in mental function, loss of control of body movements, and seizures. Giant axonal neuropathy is caused by mutations in the GAN gene. It follows and autosomal dominant pattern of inheritance. Management is directed by a multidisciplinary team with the goal of optimizing intellectual and physical development.
Source: GARD
Topic: Giant axonal neuropathy
Question: What are the symptoms of Giant axonal neuropathy ?
Answer: What are the signs and symptoms of Giant axonal neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Giant axonal neuropathy. 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) Intellectual disability 5% Abnormal pyramidal signs - Abnormality of the cerebellum - Abnormality of the hand - Areflexia of lower limbs - Autosomal recessive inheritance - Curly hair - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Dysarthria - Facial palsy - Hyperreflexia - Hyporeflexia of lower limbs - Juvenile onset - Morphological abnormality of the pyramidal tract - Motor axonal neuropathy - Nystagmus - Pes cavus - Pes planus - Phenotypic variability - Proximal muscle weakness - Scoliosis - Sensory axonal neuropathy - Slow progression - Spastic paraplegia - Steppage gait - 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.
Source: GARD
Topic: Cobb syndrome
Question: What are the symptoms of Cobb syndrome ?
Answer: What are the signs and symptoms of Cobb syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cobb 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) Arteriovenous malformation 90% Arthralgia 90% Bone pain 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Lymphangioma 90% Morphological abnormality of the central nervous system 90% Visceral angiomatosis 90% Hyperkeratosis 50% Multiple lipomas 50% Abnormality of the urinary system 7.5% Congestive heart failure 7.5% Gangrene 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: Progressive familial intrahepatic cholestasis type 2
Question: What is (are) Progressive familial intrahepatic cholestasis type 2 ?
Answer: Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rare condition that affects the liver. People with this condition generally develop signs and symptoms during infancy, which may include severe itching, jaundice, failure to thrive, portal hypertension (high blood pressure in the vein that provides blood to the liver) and hepatosplenomegaly (enlarged liver and spleen). PFIC2 generally progresses to liver failure in the first few years of life. Affected people also have an increased risk of developing hepatocellular carcinoma (a form of liver cancer). PFIC2 is caused by change (mutations) in the ABCB11 gene and is inherited in an autosomal recessive manner. Treatment may include ursodeoxycholic acid therapy to prevent liver damage, surgery and/or liver transplantation.
Source: GARD
Topic: Progressive familial intrahepatic cholestasis type 2
Question: What are the symptoms of Progressive familial intrahepatic cholestasis type 2 ?
Answer: What are the signs and symptoms of Progressive familial intrahepatic cholestasis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive familial intrahepatic cholestasis 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 recessive inheritance - Cirrhosis - Conjugated hyperbilirubinemia - Death in childhood - Diarrhea - Elevated alkaline phosphatase - Failure to thrive - Fat malabsorption - Hepatocellular carcinoma - Hepatomegaly - Infantile onset - Intermittent jaundice - Intrahepatic cholestasis - Pruritus - Short stature - Splenomegaly - 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