sarnsrun/medquadmini huggingface dataset:
Question:
What are the symptoms of Childhood-onset cerebral X-linked adrenoleukodystrophy ?

Answer:
What are the signs and symptoms of Childhood-onset cerebral X-linked adrenoleukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Childhood-onset cerebral X-linked adrenoleukodystrophy. 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 skeletal system - Attention deficit hyperactivity disorder - Blindness - Bowel incontinence - Bulbar palsy - Dementia - Elevated long chain fatty acids - Hearing impairment - Hyperpigmentation of the skin - Hypogonadism - Impotence - Incoordination - Limb ataxia - Loss of speech - Neurodegeneration - Paraparesis - Polyneuropathy - Primary adrenal insufficiency - Progressive - Psychosis - Seizures - Slurred speech - Spastic paraplegia - Truncal ataxia - Urinary bladder sphincter dysfunction - Urinary incontinence - Visual loss - 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.
Question:
What is (are) Nephropathic cystinosis ?

Answer:
Cystinosis is an inherited condition in which the body accumulates the amino acid cystine (a building block of proteins) within the cells. Excess cystine forms crystals that can build up and damage cells. These crystals can negatively affect many systems in the body, especially the kidneys and eyes. There are three distinct types of cystinosis: nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis. All three types of cystinosis are caused by mutations in the CTNS gene and inherited in an autosomal recessive pattern.[1]
Question:
What are the symptoms of Nephropathic cystinosis ?

Answer:
What are the signs and symptoms of Nephropathic cystinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephropathic cystinosis. 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 - Autosomal recessive inheritance - Cerebral atrophy - Corneal crystals - Decreased plasma carnitine - Dehydration - Delayed puberty - Delayed skeletal maturation - Diabetes mellitus - Dysphagia - Elevated intracellular cystine - Episodic metabolic acidosis - Exocrine pancreatic insufficiency - Failure to thrive in infancy - Frontal bossing - Generalized aminoaciduria - Genu valgum - Glycosuria - Hepatomegaly - Hypohidrosis - Hyponatremia - Hypophosphatemic rickets - Hypopigmentation of hair - Hypopigmentation of the skin - Male infertility - Metaphyseal widening - Microscopic hematuria - Myopathy - Nephrolithiasis - Photophobia - Pigmentary retinopathy - Polydipsia - Polyuria - Primary hypothyroidism - Progressive neurologic deterioration - Proteinuria - Rachitic rosary - Recurrent corneal erosions - Reduced visual acuity - Renal Fanconi syndrome - Renal insufficiency - Retinal pigment epithelial mottling - Short stature - Skeletal muscle atrophy - Splenomegaly - Visual impairment - 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 Congenital generalized lipodystrophy type 4 ?

Answer:
What are the signs and symptoms of Congenital generalized lipodystrophy type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital generalized lipodystrophy type 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) Hirsutism 5% Acanthosis nigricans - Autosomal recessive inheritance - Bradycardia - Constipation - Dysphagia - Elevated hepatic transaminases - Elevated serum creatine phosphokinase - Exercise intolerance - Failure to thrive - Feeding difficulties - Flexion contracture - Generalized muscle weakness - Hepatic steatosis - Hepatomegaly - Hyperinsulinemia - Hyperlordosis - Hypertriglyceridemia - IgA deficiency - Ileus - Infantile onset - Insulin resistance - Lipodystrophy - Muscle mounding - Muscle stiffness - Muscular dystrophy - Myalgia - Osteopenia - Osteoporosis - Prolonged QT interval - Prominent umbilicus - Proximal muscle weakness - Pyloric stenosis - Recurrent infections - Scoliosis - Skeletal muscle hypertrophy - Spinal rigidity - 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.
Question:
What are the symptoms of Cardioauditory syndrome of Sanchez Cascos ?

Answer:
What are the signs and symptoms of Cardioauditory syndrome of Sanchez Cascos? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardioauditory syndrome of Sanchez Cascos. 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 - Hearing impairment - Increased dermatoglyphic whorls - Ventricular hypertrophy - 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 Kniest like dysplasia lethal ?

Answer:
What are the signs and symptoms of Kniest like dysplasia lethal? The Human Phenotype Ontology provides the following list of signs and symptoms for Kniest like dysplasia lethal. 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 diaphysis morphology 90% Abnormal form of the vertebral bodies 90% Abnormality of the clavicle 90% Hydrops fetalis 90% Limb undergrowth 90% Lymphedema 90% Macrocephaly 90% Malar flattening 90% Muscular hypotonia 90% Narrow chest 90% Osteoarthritis 90% Respiratory insufficiency 90% Short neck 90% Short stature 90% Short thorax 90% Spina bifida occulta 90% Abnormality of the helix 50% Arrhythmia 50% Atria septal defect 50% Brachydactyly syndrome 50% Cleft palate 50% Depressed nasal bridge 50% Low-set, posteriorly rotated ears 50% Proptosis 50% Abnormality of the pinna - Autosomal recessive inheritance - Breech presentation - Broad ribs - Coronal cleft vertebrae - Dumbbell-shaped long bone - Edema - Flared metaphysis - Flat face - Hypertelorism - Hypoplastic ilia - Hypoplastic vertebral bodies - Lethal short-limbed short stature - Low-set ears - Narrow mouth - Patent ductus arteriosus - Platyspondyly - Polyhydramnios - Premature birth - Protuberant abdomen - Relative macrocephaly - Rhizomelia - Short diaphyses - Short ribs - Skeletal dysplasia - Talipes equinovarus - Wide anterior fontanel - 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) Lipoic acid synthetase deficiency ?

Answer:
Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person.
Question:
What are the symptoms of Lipoic acid synthetase deficiency ?

Answer:
What are the signs and symptoms of Lipoic acid synthetase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipoic acid 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) Apnea - Autosomal recessive inheritance - Encephalopathy - Feeding difficulties - Flexion contracture - Growth delay - Hypertrophic cardiomyopathy - Increased serum lactate - Lactic acidosis - Microcephaly - Motor delay - Muscular hypotonia - Respiratory insufficiency - Seizures - Severe global developmental delay - Sleep disturbance - Spastic tetraplegia - 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 Glomerulopathy with fibronectin deposits 1 ?

Answer:
What are the signs and symptoms of Glomerulopathy with fibronectin deposits 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Glomerulopathy with fibronectin deposits 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) Edema of the lower limbs 90% Glomerulopathy 90% Hematuria 90% Hypertension 90% Nephrotic syndrome 90% Proteinuria 90% Renal insufficiency 90% Intracranial hemorrhage 7.5% Autosomal dominant inheritance - Lobular glomerulopathy - Microscopic hematuria - Nephropathy - Slow progression - Stage 5 chronic kidney disease - 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) Metachromatic leukodystrophy ?

Answer:
Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin. Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes.
Question:
What are the symptoms of Metachromatic leukodystrophy ?

Answer:
What are the signs and symptoms of Metachromatic leukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Metachromatic leukodystrophy. 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) Behavioral abnormality 90% Cognitive impairment 90% Decreased nerve conduction velocity 90% Developmental regression 90% Gait disturbance 90% Genu recurvatum 90% Incoordination 90% Muscle weakness 90% Neurological speech impairment 90% Peripheral neuropathy 90% Reduced consciousness/confusion 90% Seizures 90% Amaurosis fugax 50% Hyperreflexia 50% Hypertonia 50% Limitation of joint mobility 50% Muscular hypotonia 50% Nystagmus 50% Optic atrophy 50% Aganglionic megacolon 7.5% Ataxia - Autosomal recessive inheritance - Babinski sign - Bulbar palsy - Cholecystitis - Chorea - Delusions - Dysarthria - Dystonia - EMG: neuropathic changes - Emotional lability - Gallbladder dysfunction - Hallucinations - Hyporeflexia - Increased CSF protein - Intellectual disability - Loss of speech - Mental deterioration - Peripheral demyelination - Progressive peripheral neuropathy - Spastic tetraplegia - Tetraplegia - Urinary incontinence - 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:
Is Metachromatic leukodystrophy inherited ?

Answer:
How is metachromatic leukodystrophy inherited? Metachromatic leukodystrophy is inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene in each cell must have a mutation for an individual to be affected. Individuals inherit two copies of each gene - one copy from each parent. Typically, an individual is affected because they inherited a mutated copy of the gene from each parent. Individuals with one mutated copy of the gene (such as an unaffected parent of an affected individual) are referred to as carriers; carriers typically do not have any 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 have the condition, a 50% (1 in 2) chance to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Question:
How to diagnose Metachromatic leukodystrophy ?

Answer:
Who might consider genetic carrier testing for a family history of metachromatic leukodystrophy? If someone has a family history of metachromatic leukodystrophy (MLD) or someone is known to be a carrier for MLD, individuals who are biologically related to the affected individual or carrier are at risk to be a carrier. Generally speaking, the more closely related an individual is to the affected individual or carrier, the greater the chance for that person to be a carrier. Prior to genetic testing, the chance to be a carrier for some biological relatives of an affected individual are as follows: Parent of affected individual: assumed to be 100% (called an obligate carrier) Unaffected sibling of affected individual: 2 in 3 (~66.6%) Aunt or uncle of affected individual: 1 in 2 (50%) First cousin of affected individual: 1 in 4 (25%) If someone has carrier testing and is found to be negative (not a carrier), that person's children are typically assumed to be negative also. More information about the use of genetic carrier testing is available on GeneTests' Web site and can be viewed by clicking here. Individuals who are interested in learning about genetic testing and about their specific risk to be a carrier should speak with a genetics professional.
Question:
What are the symptoms of Hunter Rudd Hoffmann syndrome ?

Answer:
What are the signs and symptoms of Hunter Rudd Hoffmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hunter Rudd Hoffmann 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) Abnormal dermatoglyphics 90% Abnormality of the distal phalanx of finger 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Convex nasal ridge 90% Craniosynostosis 90% Epicanthus 90% Hypotelorism 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Narrow forehead 90% Prominent metopic ridge 90% Ptosis 90% Short stature 90% Trigonocephaly 90% Underdeveloped supraorbital ridges 90% Wide mouth 90% Wide nasal bridge 90% Abnormality of the palate 7.5% EEG abnormality 7.5% Hernia of the abdominal wall 7.5% Proptosis 7.5% Seizures 7.5% Ventricular septal defect 7.5% Broad secondary alveolar ridge - High palate - Inguinal hernia - Intellectual disability - Lambdoidal craniosynostosis - Low-set ears - Posteriorly rotated ears - Premature posterior fontanelle closure - Sagittal craniosynostosis - Small anterior fontanelle - Small for gestational age - 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.
Question:
What is (are) Severe intellectual disability-progressive spastic diplegia syndrome ?

Answer:
Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability . Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person.