sarnsrun/medquad huggingface dataset:
Topic: Sertoli cell-only syndrome
Question: What are the symptoms of Sertoli cell-only syndrome ?
Answer: What are the signs and symptoms of Sertoli cell-only syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sertoli cell-only 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 metabolism/homeostasis - Abnormality of the thorax - Gynecomastia - Obesity - 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: Early infantile epileptic encephalopathy 25
Question: What are the symptoms of Early infantile epileptic encephalopathy 25 ?
Answer: What are the signs and symptoms of Early infantile epileptic encephalopathy 25? The Human Phenotype Ontology provides the following list of signs and symptoms for Early infantile epileptic encephalopathy 25. 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) Epileptic encephalopathy - Muscular hypotonia of the trunk - Status epilepticus - 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: Twin twin transfusion syndrome
Question: What is (are) Twin twin transfusion syndrome ?
Answer: Twin-to-twin transfusion syndrome is a rare condition that occurs when blood moves from one identical twin (the donor twin) to the other (the recipient twin) while in the womb. The donor twin may be born smaller, with paleness, anemia, and dehydration. The recipient twin may be born larger, with redness, too much blood, and increased blood pressure, resulting in an increased risk for heart failure. Treatment may require repeated amniocentesis during pregnancy. Fetal laser surgery may be done to interrupt the flow of blood from one twin to the other. After birth, treatment depends on the infant's specific symptoms. The donor twin may need a blood transfusion to treat anemia. The recipient twin may need to have the volume of body fluid reduced. This may involve an exchange transfusion. Medications may be given to treat heart failure in the recipient twin.
Source: GARD
Topic: Chondrodysplasia punctata 2 X-linked dominant
Question: What is (are) Chondrodysplasia punctata 2 X-linked dominant ?
Answer: X-linked dominant chondrodysplasia punctata (CDPX2), also known as Conradi-Hnermann-Happle syndrome, is a rare form of skeletal dysplasia characterized by skeletal malformations, skin abnormalities, cataracts and short stature. The specific symptoms and severity of the disorder may vary greatly from one individual to another. CDPX2 is caused by mutations in the emopamil binding protein gene, EBP. In many cases, this mutation occurs randomly, for no apparent reason (i.e., new mutation). The condition  is inherited as an X-linked dominant trait and occurs almost exclusively in females. Treatment of CDPX2 is directed toward the specific symptoms that present in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, including physicians who diagnose and treat disorders of the skeleton, joints, muscles, and related tissues (orthopedists); skin specialists (dermatologists); eye specialists; and/or other health care professionals.
Source: GARD
Topic: Chondrodysplasia punctata 2 X-linked dominant
Question: What are the symptoms of Chondrodysplasia punctata 2 X-linked dominant ?
Answer: What are the signs and symptoms of Chondrodysplasia punctata 2 X-linked dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia punctata 2 X-linked dominant. 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 hair quantity 90% Abnormal joint morphology 90% Abnormality of the fingernails 90% Asymmetric growth 90% Epicanthus 90% Ichthyosis 90% Kyphosis 90% Ptosis 90% Short stature 90% Optic atrophy 50% Abnormal form of the vertebral bodies 7.5% Abnormality of hair texture 7.5% Abnormality of the hip bone 7.5% Abnormality of the teeth 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the skin 7.5% Cataract 7.5% Clinodactyly of the 5th finger 7.5% Foot polydactyly 7.5% Frontal bossing 7.5% Hypoplasia of the zygomatic bone 7.5% Limb undergrowth 7.5% Malar flattening 7.5% Microcornea 7.5% Sensorineural hearing impairment 7.5% Talipes 7.5% Postaxial polydactyly 5% Abnormality of pelvic girdle bone morphology - Abnormality of the pinna - Abnormality of the thorax - Alopecia - Bilateral talipes equinovarus - Concave nasal ridge - Congenital ichthyosiform erythroderma - Congenital onset - Dandy-Walker malformation - Edema - Elevated 8(9)-cholestenol - Elevated 8-dehydrocholesterol - Epiphyseal stippling - Erythroderma - Failure to thrive - Flat face - Glaucoma - Hearing impairment - Hemiatrophy - Hemivertebrae - Hydronephrosis - Intellectual disability, moderate - Microphthalmia - Nystagmus - Patellar dislocation - Polyhydramnios - Postnatal growth retardation - Punctate vertebral calcifications - Scoliosis - Short neck - Sparse eyebrow - Sparse eyelashes - Stippled calcification in carpal bones - Tarsal stippling - Tracheal calcification - Tracheal stenosis - Variable expressivity - 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: Chang Davidson Carlson syndrome
Question: What are the symptoms of Chang Davidson Carlson syndrome ?
Answer: What are the signs and symptoms of Chang Davidson Carlson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chang Davidson Carlson 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 kidney 95% Abnormality of retinal pigmentation 90% Abnormality of the genital system 90% Anterior hypopituitarism 90% Micropenis 88% Myopia 75% Astigmatism 63% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Hearing impairment 7.5% Macrocephaly 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypertension - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Neurological speech impairment - Nystagmus - Obesity - Poor coordination - Postaxial hand polydactyly - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - 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: Dyssynergia cerebellaris myoclonica
Question: What are the symptoms of Dyssynergia cerebellaris myoclonica ?
Answer: What are the signs and symptoms of Dyssynergia cerebellaris myoclonica? The Human Phenotype Ontology provides the following list of signs and symptoms for Dyssynergia cerebellaris myoclonica. 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) Generalized seizures 7.5% Abnormality of the dentate nucleus - Abnormality of the mitochondrion - Ataxia - Autosomal dominant inheritance - Intention tremor - Myoclonus - Pallidal degeneration - Ragged-red muscle fibers - 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: Cicatricial pemphigoid
Question: What is (are) Cicatricial pemphigoid ?
Answer: Cicatricial pemphigoid is a rare, chronic, blistering and scarring disease that affects the oral and ocular mucosa. Other mucosal sites that might be affected include the nasopharnyx, larynx, genitalia, rectum, and esophagus. The condition usually begins in late adulthood (e.g. 50's or 60's), affects more women than men, and has a variable prognosis. Scarring of the affected  mucosa of the eye may lead to blindness and tends to be the most feared complication. A combination of environmental and genetic factors appear to play a role in the susceptibility of developing cicatricial pemphigoid. Although the specific causes of this condition have not been identified, it is considered an autoimmune disease that is characterized by the production of autoantibodies against basement membrane zone antigens such as BP180, BP230, and laminin 5.  Treatment is dependent on the person's specific symptoms.
Source: GARD
Topic: Camptobrachydactyly
Question: What are the symptoms of Camptobrachydactyly ?
Answer: What are the signs and symptoms of Camptobrachydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptobrachydactyly. 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) Brachydactyly syndrome 90% Camptodactyly of finger 90% Abnormality of female internal genitalia 50% Finger syndactyly 50% Toe syndactyly 50% Ulnar deviation of finger 50% Abnormality of the fingernails 7.5% Aplasia/Hypoplasia of the thumb 7.5% Hypoplastic toenails 7.5% Autosomal dominant inheritance - Congenital finger flexion contractures - Hand polydactyly - Septate vagina - Short toe - Syndactyly - 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.
Source: GARD
Topic: Hemophilia
Question: What is (are) Hemophilia ?
Answer: Hemophilia is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding following an injury, surgery, or having a tooth pulled. In severe cases, heavy bleeding occurs after minor trauma or in the absence of injury. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. The major types of this disorder are hemophilia A and hemophilia B. Although the two types have very similar signs and symptoms, they are caused by mutations in different genes. People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood, but have few bleeding problems after puberty. Another form of the disorder, acquired hemophilia, is not caused by inherited gene mutations.
Source: GARD
Topic: Virus associated hemophagocytic syndrome
Question: What is (are) Virus associated hemophagocytic syndrome ?
Answer: Virus associated hemophagocytic syndrome is a very serious complication of a viral infection. Signs and symptoms of virus associated hemophagocytic syndrome, include high fever, liver problems, enlarged liver and spleen, coagulation factor abnormalities, decreased red or white blood cells and platelets (pancytopenia), and a build-up of histiocytes, a type of immune cell, in various tissues in the body resulting in the destruction of blood-producing cells (histiocytic proliferation with prominent hemophagocytosis).  Diagnosis is based upon the signs and symptoms of the patient. The cause of the condition is not known. Treatment is challenging and approach will vary depending on the age and medical history of the patient. Complications of this syndrome can become life threatening. Related conditions (conditions with overlapping signs and symptoms), include histiocytic medullary reticulosis (HMR), familial hemophagocytic lymphohistiocytosis (FHL), and X-linked lymphoproliferative syndrome.
Source: GARD
Topic: Oculo-cerebral dysplasia
Question: What are the symptoms of Oculo-cerebral dysplasia ?
Answer: What are the signs and symptoms of Oculo-cerebral dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculo-cerebral dysplasia. 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 affecting the eye 90% Dandy-Walker malformation 90% Optic atrophy 90% Abnormality of the palpebral fissures 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: Sialidosis type I
Question: What is (are) Sialidosis type I ?
Answer: Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features. Sialidosis type I is the less severe form of this condition. People with this condition typically develop signs and symptoms of sialidosis in their teens or twenties. Characteristic features may include sudden involuntary muscle contractions (myoclonus), distinctive red spots (cherry-red macules) in the eyes, and sometimes additional neurological findings. Sialidosis type I is caused by mutations in the NEU1 gene. Individuals with sialidosis type I have mutations that result in some functional NEU1 enzyme. The condition is inherited in an autosomal recessive pattern. It does not affect intelligence or life expectancy.
Source: GARD
Topic: Sialidosis type I
Question: What are the symptoms of Sialidosis type I ?
Answer: What are the signs and symptoms of Sialidosis type I? The Human Phenotype Ontology provides the following list of signs and symptoms for Sialidosis type I. 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 macula 90% Aminoaciduria 90% Coarse facial features 90% Delayed skeletal maturation 90% Gait disturbance 90% Hyperkeratosis 90% Incoordination 90% Neurological speech impairment 90% Nystagmus 90% Opacification of the corneal stroma 90% Pectus carinatum 90% Retinopathy 90% Scoliosis 90% Seizures 90% Sensorineural hearing impairment 90% Short stature 90% Short thorax 90% Skeletal dysplasia 90% Splenomegaly 90% Thick lower lip vermilion 90% Visual impairment 90% Wide nasal bridge 90% Abnormal form of the vertebral bodies 50% Cognitive impairment 50% Decreased nerve conduction velocity 50% EEG abnormality 50% Frontal bossing 50% Hernia 50% Morphological abnormality of the central nervous system 50% Muscular hypotonia 50% Skeletal muscle atrophy 50% Tremor 50% Cataract 7.5% Kyphosis 7.5% Ascites - Autosomal recessive inheritance - Bone-marrow foam cells - Cardiomegaly - Cardiomyopathy - Cherry red spot of the macula - Dysmetria - Dysostosis multiplex - Epiphyseal stippling - Facial edema - Hepatomegaly - Hydrops fetalis - Hyperreflexia - Increased urinary O-linked sialopeptides - Inguinal hernia - Intellectual disability - Muscle weakness - Myoclonus - Progressive visual loss - Proteinuria - Slurred speech - Urinary excretion of sialylated oligosaccharides - Vacuolated lymphocytes - 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: Sialidosis type I
Question: What are the treatments for Sialidosis type I ?
Answer: How might sialidosis type I be treated? There is no specific treatment for sialidosis. Management should be multidisciplinary and directed at supportive care and symptomatic relief. Overall health maintenance should be a priority, with seizure control as necessary. Myoclonic seizures often respond poorly to treatment with anticonvulsant medications.
Source: GARD
Topic: Laryngeal cleft
Question: What is (are) Laryngeal cleft ?
Answer: A laryngeal cleft is a rare abnormality of the separation between the larynx, or voice box, and the esophagus. Normally, when the larynx develops, it is completely separate from the esophagus so swallowed foods go directly into the stomach. When a laryngeal cleft occurs, there is an opening between the larynx and the esophagus so food and liquid can pass through the larynx into the lungs. There are several different types of laryngeal clefts (Types I through IV), classified based on the extent of the clefting.
Source: GARD