sarnsrun/medquad huggingface dataset:
Topic: Spondylometaphyseal dysplasia with cone-rod dystrophy
Question: What are the symptoms of Spondylometaphyseal dysplasia with cone-rod dystrophy ?
Answer: What are the signs and symptoms of Spondylometaphyseal dysplasia with cone-rod dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia with cone-rod dystrophy. 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 retinal pigmentation 90% Abnormality of color vision 50% Astigmatism 50% Hyperlordosis 50% Hypermetropia 50% Myopia 50% Nystagmus 50% Photophobia 50% Scoliosis 50% Visual impairment 50% Brachydactyly syndrome 7.5% Limitation of joint mobility 7.5% Abnormality of macular pigmentation - Autosomal recessive inheritance - Cone/cone-rod dystrophy - Coxa vara - Cupped ribs - Dental malocclusion - Femoral bowing - Hypoplastic inferior ilia - Joint stiffness - Metaphyseal cupping - Metaphyseal irregularity - Metaphyseal widening - Narrow greater sacrosciatic notches - Ovoid vertebral bodies - Postnatal growth retardation - Progressive visual loss - Recurrent otitis media - Rhizomelia - Severe platyspondyly - Short finger - Short metacarpal - Spondylometaphyseal dysplasia - Tibial bowing - 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: X-linked intellectual disability, Najm type
Question: What are the symptoms of X-linked intellectual disability, Najm type ?
Answer: What are the signs and symptoms of X-linked intellectual disability, Najm type? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked intellectual disability, Najm type. 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 cerebellum 90% Cognitive impairment 90% Abnormality of the nose 50% Broad forehead 50% Cataract 50% Cerebral cortical atrophy 50% Gait disturbance 50% Hypertelorism 50% Long philtrum 50% Macrotia 50% Microcephaly 50% Myopia 50% Nystagmus 50% Seizures 50% Sensorineural hearing impairment 50% Strabismus 50% Visual impairment 50% Chorioretinal coloboma 7.5% Hypertonia 7.5% Macrogyria 7.5% Neurological speech impairment 7.5% Optic atrophy 7.5% Optic disc pallor 7.5% Optic nerve hypoplasia 7.5% Scoliosis 7.5% Absent speech - Broad nasal tip - Cerebellar hypoplasia - Decreased body weight - Dilated fourth ventricle - Epicanthus - Generalized hypotonia - High palate - Hyperreflexia - Hypohidrosis - Intellectual disability, moderate - Large eyes - Muscle weakness - Muscular hypotonia of the trunk - Oval face - Postnatal growth retardation - Prominent nasal bridge - Short nose - Short stature - Spasticity - Wide nasal bridge - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Hirschsprung's disease
Question: What is (are) Hirschsprung's disease ?
Answer: Hirschsprung disease is a disease of the large intestine or colon. People with this disease do not have the nerve cells in the intestine required to expel stools from the body normally. Symptoms of Hirschsprung disease usually show up in very young children, but sometimes not until adolescence or adulthood. The symptoms may vary with age, but often involve constipation and/or obstruction of the bowel.
Source: GARD
Topic: Hirschsprung's disease
Question: What are the symptoms of Hirschsprung's disease ?
Answer: What are the signs and symptoms of Hirschsprung's disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Hirschsprung's 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) Abdominal pain 90% Aganglionic megacolon 90% Constipation 90% Intestinal obstruction 90% Nausea and vomiting 90% Weight loss 50% Adducted thumb 7.5% Cognitive impairment 7.5% Diarrhea 7.5% Intestinal polyposis 7.5% Neoplasm of the thyroid gland 7.5% Sensorineural hearing impairment 7.5% Sepsis 7.5% Short stature 7.5% Abdominal distention - Abnormality of the enteric ganglia - Autosomal dominant inheritance - Enterocolitis - Vomiting - 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: Hirschsprung's disease
Question: What causes Hirschsprung's disease ?
Answer: What causes Hirschsprung disease? There are a number of different causes of Hirschsprung disease (HSCR). For example, HSCR may occur as: A part of a syndrome In association with a chromosome anomaly (such as trisomy 21 or Down syndrome)  Along with other birth defects but not as a part of a known syndrome As an isolated condition
Source: GARD
Topic: Hirschsprung's disease
Question: Is Hirschsprung's disease inherited ?
Answer: Is Hirschsprung's disease inherited? Hirschsprung's disease (HSCR) usually occurs occurs by itself without other symptoms and is called isolated HSCR. Isolated HSCR has multifactorial inheritance, which means that multiple genes interact with environmental factors to cause the condition. When someone has a child with isolated HSCR, the overall risk to have another child with the condition is 4%. There are some factors that can change the risk. For example, the risk is higher if the sibling has long-segment disease rather than short-segment disease. Also males are more likely than females to develop HSCR. Another factor is if the siblings have the same or different parents.  If HSCR occurs as part of a genetic syndrome, then it is inherited in a specific pattern. For example, the inheritance may be autosomal recessive, autosomal dominant, or X-linked recessive, depending on the exact cause of the syndrome.  Individuals who are interested in learning about their personal risks or risks to family members should speak with their health care provider or a genetics professional.
Source: GARD
Topic: Paragangliomas 1
Question: What are the symptoms of Paragangliomas 1 ?
Answer: What are the signs and symptoms of Paragangliomas 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Paragangliomas 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) Adrenal pheochromocytoma - Adult onset - Anxiety (with pheochromocytoma) - Autosomal dominant inheritance - Chemodectoma - Conductive hearing impairment - Diaphoresis (with pheochromocytoma) - Elevated circulating catecholamine level - Extraadrenal pheochromocytoma - Glomus jugular tumor - Glomus tympanicum paraganglioma - Headache (with pheochromocytoma) - Hoarse voice (caused by tumor impingement) - Hyperhidrosis - Hypertension associated with pheochromocytoma - Loss of voice - Palpitations - Palpitations (with pheochromocytoma) - Paraganglioma-related cranial nerve palsy - Pulsatile tinnitus (tympanic paraganglioma) - Tachycardia - Tachycardia (with pheochromocytoma) - Vagal paraganglioma - Vocal cord paralysis (caused by tumor impingement) - 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: Hypothalamic hamartomas
Question: What are the symptoms of Hypothalamic hamartomas ?
Answer: What are the signs and symptoms of Hypothalamic hamartomas? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypothalamic hamartomas. 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) Death in infancy 50% Abnormality of cardiovascular system morphology - Anterior hypopituitarism - Autosomal recessive inheritance - Cleft palate - Depressed nasal bridge - Glioma - Hip dislocation - Hydrocephalus - Hypothalamic hamartoma - Macrocephaly - Median cleft lip - Microglossia - Micromelia - Micropenis - Occipital encephalocele - Postaxial hand polydactyly - Pulmonary hypoplasia - Renal dysplasia - Short nose - Short ribs - Skeletal dysplasia - 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: Miller-Dieker syndrome
Question: What is (are) Miller-Dieker syndrome ?
Answer: Miller-Dieker syndrome is a genetic condition characterized by lissencephaly, typical facial features, and severe neurologic abnormalities. Symptoms may include severe intellectual disability, developmental delay, seizures, muscle stiffness, weak muscle tone and feeding difficulties. Miller-Dieker syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 17. Treatment is symptomatic and supportive.
Source: GARD
Topic: Miller-Dieker syndrome
Question: What are the symptoms of Miller-Dieker syndrome ?
Answer: What are the signs and symptoms of Miller-Dieker syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Miller-Dieker 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) Intellectual disability 100% Motor delay 100% Anteverted nares 90% Cerebral cortical atrophy 90% EEG abnormality 90% Epicanthus 90% Frontal bossing 90% High forehead 90% Posteriorly rotated ears 90% Seizures 90% Short nose 90% Abnormality of the cardiovascular system 50% Polyhydramnios 50% Aplasia/Hypoplasia of the corpus callosum 7.5% Clinodactyly of the 5th finger 7.5% Incoordination 7.5% Nephropathy 7.5% Omphalocele 7.5% Sacral dimple 7.5% Lissencephaly 27/27 Short nose 26/26 Thick upper lip vermilion 25/25 Wide nasal bridge 24/25 Cavum septum pellucidum 17/22 Hypoplasia of the corpus callosum 17/23 Sacral dimple 14/19 Microcephaly 17/25 Deep palmar crease 14/21 Midline brain calcifications 13/24 Low-set ears 14/27 Clinodactyly of the 5th finger 10/24 Epicanthus 8/22 Intrauterine growth retardation 8/22 Polyhydramnios 6/20 Abnormality of cardiovascular system morphology 6/27 Joint contracture of the hand 6/27 Single transverse palmar crease 5/24 Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - Camptodactyly - Cataract - Cleft palate - Contiguous gene syndrome - Cryptorchidism - Decreased fetal movement - Delayed eruption of teeth - Duodenal atresia - Failure to thrive - Heterotopia - Infantile muscular hypotonia - Infantile spasms - Inguinal hernia - Pachygyria - Pelvic kidney - Polydactyly - Progressive spastic paraplegia - Recurrent aspiration pneumonia - Upslanted palpebral fissure - 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: Feingold syndrome
Question: What are the symptoms of Feingold syndrome ?
Answer: What are the signs and symptoms of Feingold syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Feingold 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) Blepharophimosis 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Microcephaly 90% 4-5 toe syndactyly 86% 2-3 toe syndactyly 56% Anteverted nares 50% Cognitive impairment 50% Depressed nasal bridge 50% External ear malformation 50% Hallux valgus 50% Short stature 50% Toe syndactyly 50% Abnormal form of the vertebral bodies 7.5% Abnormality of the spleen 7.5% Annular pancreas 7.5% Duodenal stenosis 7.5% Oral cleft 7.5% Patent ductus arteriosus 7.5% Sensorineural hearing impairment 7.5% Tracheoesophageal fistula 7.5% Accessory spleen - Aplasia/Hypoplasia of the middle phalanx of the 2nd finger - Aplasia/Hypoplasia of the middle phalanx of the 5th finger - Asplenia - Autosomal dominant inheritance - Decreased fetal movement - Depressed nasal tip - Duodenal atresia - Epicanthus - Esophageal atresia - Facial asymmetry - Hearing impairment - High palate - Intellectual disability - Low-set ears - Polyhydramnios - Polysplenia - Posteriorly rotated ears - Prominent occiput - Short palpebral fissure - Short toe - Small anterior fontanelle - Specific learning disability - Thick vermilion border - Triangular face - Upslanted palpebral fissure - Vocal cord paralysis - Wide nasal bridge - 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: Kimura disease
Question: What is (are) Kimura disease ?
Answer: Kimura disease is a rare, benign, chronic disorder that causes inflammation of tissue (nodules) under the skin of the head or neck.  These nodules tend to recur despite treatment. The cause of this condition is unknown, but may be due to an immune response.
Source: GARD
Topic: Kimura disease
Question: What are the treatments for Kimura disease ?
Answer: How might Kimura disease be treated? For individuals with symptoms caused by Kimura disease, surgery to remove the nodules is the treatment of choice; however, the nodules often reappear after surgery. Steroids (such as prednisone), taken by mouth or via an injection in the skin, can shrink the nodules but rarely result in a cure. Other, less common, treatments include oral pentoxifylline, medication that supresses the immune system (such as cyclosporine), radiotherapy, and a combination of all trans-retinoic acid and prednisone. It is important to consult with your healthcare provider before taking any medication.
Source: GARD
Topic: Carnitine-acylcarnitine translocase deficiency
Question: What is (are) Carnitine-acylcarnitine translocase deficiency ?
Answer: Carnitine-acylcarnitine translocase deficiency is a condition that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. People with this disorder have a faulty transporter that disrupts carnitine's role in processing long-chain fatty acids. Carnitine-acylcarnitine translocase deficiency is a type of fatty acid oxidation disorder. There are two forms of carnitine-acylcarnitine translocase deficiency. The most common type happens in newborns. A milder, less common type happens in older infants and children.
Source: GARD
Topic: Carnitine-acylcarnitine translocase deficiency
Question: What are the symptoms of Carnitine-acylcarnitine translocase deficiency ?
Answer: What are the signs and symptoms of Carnitine-acylcarnitine translocase deficiency? The signs of carnitine-acylcarnitine translocase deficiency usually begin within the first few hours after birth. Seizures, an irregular heartbeat (arrhythmia), and breathing problems are often the first signs of this disorder. This disorder may also result in an extremely low level of ketones, which are products of fat breakdown that are used for energy. Low blood sugar (hypoglycemia) is another major feature. Together these signs are called hypoketotic hypoglycemia, which can result in unconsciousness and seizures. Other signs that are often present include excess ammonia in the blood (hyperammonemia), an enlarged liver (hepatomegaly), heart abnormalities (cardiomyopathy), and muscle weakness. This disorder can cause sudden infant death. Children with the mild type of carnitine-acylcarnitine translocase deficiency usually start having symptoms before age three. They are at risk to have episodes of metabolic crisis, but usually do not have heart problems. The Human Phenotype Ontology provides the following list of signs and symptoms for Carnitine-acylcarnitine translocase 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) Atrioventricular block - Autosomal recessive inheritance - Bradycardia - Cardiomyopathy - Cardiorespiratory arrest - Coma - Dicarboxylic aciduria - Elevated hepatic transaminases - Elevated serum creatine phosphokinase - Hepatomegaly - Hyperammonemia - Hypoglycemia - Hypotension - Irritability - Lethargy - Muscle weakness - Muscular hypotonia - Rhabdomyolysis - Seizures - Ventricular extrasystoles - Ventricular hypertrophy - Ventricular tachycardia - 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