sarnsrun/medquad huggingface dataset:
Topic: Mucolipidosis III alpha/beta
Question: What are the symptoms of Mucolipidosis III alpha/beta ?
Answer: What are the signs and symptoms of Mucolipidosis III alpha/beta? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucolipidosis III alpha/beta. 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 form of the vertebral bodies 90% Abnormality of the hip bone 90% Cognitive impairment 90% Craniofacial hyperostosis 90% Hearing abnormality 90% Limitation of joint mobility 90% Opacification of the corneal stroma 90% Prominent occiput 90% Short stature 90% Visual impairment 90% Acne 50% Coarse facial features 50% Hernia of the abdominal wall 50% Hyperlordosis 50% Abnormality of the aortic valve 7.5% Cleft palate 7.5% Reduced bone mineral density 7.5% Aortic regurgitation - Autosomal recessive inheritance - Broad ribs - Carpal bone hypoplasia - Craniosynostosis - Deficiency of N-acetylglucosamine-1-phosphotransferase - Dysostosis multiplex - Hyperopic astigmatism - Increased serum beta-hexosaminidase - Increased serum iduronate sulfatase activity - Intellectual disability - Irregular carpal bones - J-shaped sella turcica - Mandibular prognathia - Retinal degeneration - Scoliosis - Shallow acetabular fossae - Short long bone - Short ribs - Soft tissue swelling of interphalangeal joints - Specific learning disability - Split hand - Thickened skin - 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: Chitayat Meunier Hodgkinson syndrome
Question: What are the symptoms of Chitayat Meunier Hodgkinson syndrome ?
Answer: What are the signs and symptoms of Chitayat Meunier Hodgkinson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chitayat Meunier Hodgkinson 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 fingernails 90% Abnormality of the nose 90% Clinodactyly of the 5th finger 90% Delayed skeletal maturation 90% Epicanthus 90% Frontal bossing 90% Glossoptosis 90% High forehead 90% Hypoplasia of the zygomatic bone 90% Long philtrum 90% Oral cleft 90% Proptosis 90% Proximal placement of thumb 90% Sandal gap 90% Short distal phalanx of finger 90% Triphalangeal thumb 90% Underdeveloped supraorbital ridges 90% Abnormal hair quantity 50% Abnormality of dental color 50% Carious teeth 50% Microdontia 50% Cleft palate - Easily subluxated first metacarpophalangeal joints - Hyperconvex nail - Pierre-Robin sequence - Tapered finger - 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: Hairy nose tip
Question: What are the symptoms of Hairy nose tip ?
Answer: What are the signs and symptoms of Hairy nose tip? The Human Phenotype Ontology provides the following list of signs and symptoms for Hairy nose tip. 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 hair - 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: Ribbing disease
Question: What is (are) Ribbing disease ?
Answer: Ribbing disease is a rare bone disease that causes bony growths on the long bones, such as the thigh bone and shine bone. Ribbing disease affects women more frequently than men. The most common symptom is pain. A single study of 14 patients found an association between Ribbing disease and impaired exercise tolerance and changes in heart function (i.e., increased prevalence of arrhythmia and changes in left ventricular systolic and diastolic function). The cause of the condition is currently unknown, although some cases appear to be genetic and inherited in an autosomal recessive fashion. Optimal treatment for the disease is largely unknown. There have been case reports describing treatment of Ribbing disease with bisphosphonate pamidronate. Results have been mixed. The condition often resolves on its own; however cases of progressive disease have been described.
Source: GARD
Topic: Ribbing disease
Question: What are the symptoms of Ribbing disease ?
Answer: What are the signs and symptoms of Ribbing disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Ribbing disease. 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 - Diaphyseal sclerosis - 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: Phosphoglycerate mutase deficiency
Question: What are the symptoms of Phosphoglycerate mutase deficiency ?
Answer: What are the signs and symptoms of Phosphoglycerate mutase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Phosphoglycerate mutase 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) Autosomal recessive inheritance - Elevated serum creatine phosphokinase - Exercise intolerance - Exercise-induced muscle cramps - Exercise-induced myalgia - Myoglobinuria - Myopathy - Renal insufficiency - Rhabdomyolysis - 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: Miles-Carpenter x-linked mental retardation syndrome
Question: What are the symptoms of Miles-Carpenter x-linked mental retardation syndrome ?
Answer: What are the signs and symptoms of Miles-Carpenter x-linked mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Miles-Carpenter x-linked mental retardation 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% Strabismus 90% Abnormality of the genital system 50% Cognitive impairment 50% Decreased body weight 50% Facial asymmetry 50% Joint hypermobility 50% Microcornea 50% Talipes 50% Abnormality of the skin - Congenital contracture - Distal amyotrophy - Exotropia - Intellectual disability - Microcephaly - 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: Limb-girdle muscular dystrophy, type 2G
Question: What are the symptoms of Limb-girdle muscular dystrophy, type 2G ?
Answer: What are the signs and symptoms of Limb-girdle muscular dystrophy, type 2G? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy, type 2G. 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 of lower limbs - Autosomal recessive inheritance - Calf muscle hypertrophy - Difficulty climbing stairs - Difficulty running - Difficulty walking - Distal lower limb amyotrophy - Distal lower limb muscle weakness - Elevated serum creatine phosphokinase - Foot dorsiflexor weakness - Increased connective tissue - Increased variability in muscle fiber diameter - Muscular dystrophy - Proximal muscle weakness in upper limbs - Proximal upper limb amyotrophy - Rimmed vacuoles - 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: Porencephaly cerebellar hypoplasia internal malformations
Question: What are the symptoms of Porencephaly cerebellar hypoplasia internal malformations ?
Answer: What are the signs and symptoms of Porencephaly cerebellar hypoplasia internal malformations? The Human Phenotype Ontology provides the following list of signs and symptoms for Porencephaly cerebellar hypoplasia internal malformations. 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) Agenesis of cerebellar vermis - Atria septal defect - Autosomal recessive inheritance - Cerebellar hypoplasia - Porencephaly - Situs inversus totalis - Tetralogy of Fallot - 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 hypocalciuric hypercalcemia type 1
Question: What are the symptoms of Familial hypocalciuric hypercalcemia type 1 ?
Answer: What are the signs and symptoms of Familial hypocalciuric hypercalcemia type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hypocalciuric hypercalcemia type 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) Autosomal dominant inheritance - Hypercalcemia - Hypermagnesemia - Hyperparathyroidism - Hypocalciuria - Nephrolithiasis - Pancreatitis - 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: HurlerScheie syndrome
Question: What are the symptoms of HurlerScheie syndrome ?
Answer: What are the signs and symptoms of HurlerScheie syndrome ? The Human Phenotype Ontology provides the following list of signs and symptoms for HurlerScheie 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 form of the vertebral bodies 90% Abnormality of the heart valves 90% Abnormality of the tonsils 90% Coarse facial features 90% Hepatomegaly 90% Hernia 90% Limitation of joint mobility 90% Opacification of the corneal stroma 90% Short stature 90% Sinusitis 90% Skeletal dysplasia 90% Splenomegaly 90% Abnormal pyramidal signs 50% Decreased nerve conduction velocity 50% Sensorineural hearing impairment 50% Spinal canal stenosis 50% Hypertrichosis 7.5% Hypertrophic cardiomyopathy 7.5% Aortic regurgitation - Autosomal recessive inheritance - Corneal opacity - Depressed nasal bridge - Dysostosis multiplex - Hirsutism - Joint stiffness - Kyphosis - Mitral regurgitation - Obstructive sleep apnea - Pulmonary hypertension - Recurrent respiratory infections - Scoliosis - Thick vermilion border - Tracheal stenosis - Umbilical hernia - 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: Pyruvate dehydrogenase deficiency
Question: What is (are) Pyruvate dehydrogenase deficiency ?
Answer: Pyruvate dehydrogenase deficiency is metabolic disorder associated with abnormal function of the mitochondria in cells, thus depriving the body of energy. Progressive neurological symptoms usually start in infancy but may be evident at birth, or in later childhood; these symptoms may include developmental delay, intermittent ataxia, poor muscle tone (hypotonia), abnormal eye movements, or seizures. Severe lethargy, poor feeding, and tachypnea (rapid breathing) commonly occur, especially during times of illness, stress, or high carbohydrate intake. Childhood-onset forms of the condition are often associated with intermittent periods of illness but normal neurological development. Prognosis is difficult to predict due to the many causes of the condition, but in most cases of neonatal and infantile onset, prognosis is described as poor. The most common form of pyruvate dehydrogenase deficiency is caused by mutations in the E1 alpha gene, and is inherited in an X-linked dominant manner; all other forms are caused by various genes and are inherited in an autosomal recessive manner. In addition to directly treating acidosis and providing alternative energy for the body, treatment typically includes dietary supplementation with thiamine, carnitine, and lipoic acids, although not all individuals respond to this therapy.
Source: GARD
Topic: Pyruvate dehydrogenase deficiency
Question: What causes Pyruvate dehydrogenase deficiency ?
Answer: What causes pyruvate dehydrogenase deficiency? Pyruvate dehydrogenase (PDH) deficiency is usually caused by a deficiency of one or more enzymes or cofactors (such as thiamine) that are needed for an important chemical reaction in the cells of the body. These enzymes or cofactors are part of the pyruvate dehydrogenase complex and normally convert (or aid in converting) a chemical called pyruvate to another chemical called acetyl-coenzyme A (CoA), which is one of two important chemicals the body needs to make citrate for the cells. Because pyruvate cannot be converted to acetyl-CoA, there is too much pyruvate in the cells, which then gets used to produce more lactic acid (which is toxic in large amounts) and alanine; there is also not enough citrate being made by the body. Citrate is the first step in another important group of chemical reactions called the citric acid cycle, which then cannot proceed. The body tries to make alternate pathways to produce more acetyl-CoA, but there is still not enough energy made in the body, especially in the central nervous system (CNS). The amount of energy that is deficient depends on the amount of the enzyme that is deficient. The condition is sometimes referred to as pyruvate dehydrogenase complex (PDHC) deficiency because there is a "complex" of three enzymes normally used in the reaction; when any one or more of the enzymes needed for the above-described reaction are deficient, the condition results. The most common form of pyruvate dehydrogenase deficiency is caused by mutations in the X-linked dominant E1 alpha gene; all other causes are thought to be due to mutations in recessive genes.
Source: GARD