sarnsrun/medquad huggingface dataset:
Topic: Rotor syndrome
Question: What causes Rotor syndrome ?
Answer: What causes Rotor syndrome? Rotor syndrome is an inherited disorder caused by having mutations in both the SLCO1B1 and SLCO1B3 genes. These genes provide instructions for making proteins that are found in liver cells, where they transport bilirubin and other substances from the blood into the liver so that they can be cleared from the body. In the liver, bilirubin is dissolved in a digestive fluid called bile, and then excreted from the body. The mutations in the SLCO1B1 and SLCO1B3 genes that cause Rotor syndrome either prevent the production of the transporting proteins, or prevent them from functioning properly. When this occurs, bilirubin is not effectively removed from the body and builds up, leading to jaundice.
Source: GARD
Topic: Rotor syndrome
Question: How to diagnose Rotor syndrome ?
Answer: How is Rotor syndrome diagnosed? Rotor syndrome is diagnosed based on symptoms and various laboratory tests. Physical exams in affected people are typically normal, except for mild jaundice. There are two forms of bilirubin in the body: a toxic form called unconjugated bilirubin and a nontoxic form called conjugated bilirubin. People with Rotor syndrome have a buildup of both in their blood (hyperbilirubinemia), but having elevated levels of conjugated bilirubin is the hallmark of the disorder. Conjugated bilirubin in affected people is usually more than 50% of total bilirubin. To confirm a disgnosis of Rotor syndrome, a person may have the following performed: testing for serum bilirubin concentration testing for bilirubin in the urine testing for hemolysis and liver enzyme activity (to rule out other conditions) cholescintigraphy (also called an HIDA scan) testing for total urinary porphyrins
Source: GARD
Topic: Rotor syndrome
Question: What are the treatments for Rotor syndrome ?
Answer: How might Rotor syndrome be treated? Rotor syndrome is considered a benign disorder and does not require treatment. While no adverse drug reactions have been reported in people with Rotor syndrome, a number of commonly used drugs and/or their metabolites may have serious consequences in affected people. This is because some drugs enter the liver via one of the two transporter proteins that are absent in affected people. People with Rotor syndrome should make sure all of their health care providers are aware of their diagnosis and should check with their health care providers regarding drugs that should be avoided.
Source: GARD
Topic: Oculomaxillofacial dysostosis
Question: What are the symptoms of Oculomaxillofacial dysostosis ?
Answer: What are the signs and symptoms of Oculomaxillofacial dysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculomaxillofacial dysostosis. 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 eyelashes 50% Abnormality of the teeth 50% Aplasia/Hypoplasia of the eyebrow 50% Cleft palate 50% Facial cleft 50% Median cleft lip 50% Opacification of the corneal stroma 50% Short stature 50% Underdeveloped nasal alae 50% Upslanted palpebral fissure 50% Wide nasal bridge 50% Abnormality of the humerus 7.5% Adducted thumb 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Brachydactyly syndrome 7.5% Camptodactyly of finger 7.5% Cognitive impairment 7.5% Coloboma 5% Deep palmar crease 5% Abnormality of the skeletal system - Autosomal recessive inheritance - Cleft upper lip - 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: Patterson pseudoleprechaunism syndrome
Question: What are the symptoms of Patterson pseudoleprechaunism syndrome ?
Answer: What are the signs and symptoms of Patterson pseudoleprechaunism syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Patterson pseudoleprechaunism 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 cortical bone morphology 90% Abnormality of the hypothalamus-pituitary axis 90% Abnormality of the metaphyses 90% Cognitive impairment 90% Delayed skeletal maturation 90% Generalized hyperpigmentation 90% Hypertrichosis 90% Kyphosis 90% Macrotia 90% Abnormality of the clavicle 50% Abnormality of the ribs 50% Craniofacial hyperostosis 50% Hypercortisolism 50% Hyperextensible skin 50% Precocious puberty 50% Seizures 50% Type II diabetes mellitus 50% Cervical platyspondyly - Diabetes mellitus - Flat acetabular roof - Generalized bronze hyperpigmentation - Genu valgum - Growth abnormality - Hirsutism - Hypoplasia of the odontoid process - Intellectual disability, progressive - Intellectual disability, severe - Irregular acetabular roof - Irregular sclerotic endplates - Joint swelling onset late infancy - Kyphoscoliosis - Large hands - Long foot - Marked delay in bone age - Ovoid thoracolumbar vertebrae - Palmoplantar cutis laxa - Premature adrenarche - Prominent nose - Short long bone - Small cervical vertebral bodies - Sporadic - Talipes valgus - Thickened calvaria - 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: Seres-Santamaria Arimany Muniz syndrome
Question: What are the symptoms of Seres-Santamaria Arimany Muniz syndrome ?
Answer: What are the signs and symptoms of Seres-Santamaria Arimany Muniz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Seres-Santamaria Arimany Muniz 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 hair quantity 90% Abnormality of the fingernails 90% Abnormality of the nose 90% Abnormality of the palpebral fissures 90% Abnormality of the toenails 90% Coarse hair 90% Hypohidrosis 90% Non-midline cleft lip 90% Abnormality of dental enamel 50% Abnormality of dental morphology 50% Abnormality of the eyelashes 50% Aplasia/Hypoplasia of the eyebrow 50% Cleft palate 50% Generalized hyperpigmentation 50% Palmoplantar keratoderma 50% Reduced number of teeth 50% Abnormality of the pinna 7.5% Abnormality of the voice 7.5% Clinodactyly of the 5th finger 7.5% Conductive hearing impairment 7.5% Delayed eruption of teeth 7.5% Finger syndactyly 7.5% Lacrimation abnormality 7.5% Supernumerary nipple 7.5% Ventricular septal defect 7.5% 2-3 toe syndactyly - Abnormality of the nervous system - Absent eyelashes - Anhidrosis - Ankyloblepharon - Anonychia - Atresia of the external auditory canal - Autosomal dominant inheritance - Blepharitis - Cleft upper lip - Conical tooth - Conjunctivitis - Hyperconvex nail - Hyperpigmentation of the skin - Hypodontia - Hypoplasia of the maxilla - Hypospadias - Lacrimal duct atresia - Micropenis - Nail dystrophy - Oval face - Patchy alopecia - Patent ductus arteriosus - Selective tooth agenesis - Sparse body hair - Sparse eyelashes - Wide nasal bridge - Widely spaced teeth - 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: Herpes simplex encephalitis
Question: What is (are) Herpes simplex encephalitis ?
Answer: Herpes simplex encephalitis is a rare neurological condition that is characterized by inflammation of the brain (encephalitis). People affected by this condition may experience a headache and fever for up to 5 days, followed by personality and behavioral changes; seizures; hallucinations; and altered levels of consciousness. Without early diagnosis and treatment, severe brain damage or even death may occur. Herpes simplex encephalitis is caused by a virus called the herpes simplex virus. Most cases are associated with herpes simplex virus type I (the cause of cold sores or fever blisters), although rare cases can be caused by herpes simplex virus type II (genital herpes). It is poorly understood why some people who are infected with herpes simplex virus develop herpes simplex encephalitis while others do not. Changes (mutations) in genes such as TLR3 and TRAF3 have been observed suggesting there may be a genetic component in some cases. Treatment consists of antiviral therapy.
Source: GARD
Topic: Facio thoraco genital syndrome
Question: What are the symptoms of Facio thoraco genital syndrome ?
Answer: What are the signs and symptoms of Facio thoraco genital syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Facio thoraco genital 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) Anteverted nares - Autosomal recessive inheritance - Glandular hypospadias - Long philtrum - Microphthalmia - Pectus excavatum - Prominent scrotal raphe - Shawl scrotum - Small nail - Smooth philtrum - Wide intermamillary distance - 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: Bardet-Biedl syndrome 5
Question: What are the symptoms of Bardet-Biedl syndrome 5 ?
Answer: What are the signs and symptoms of Bardet-Biedl syndrome 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 5. 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% 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: Ceroid lipofuscinosis neuronal 1
Question: What are the symptoms of Ceroid lipofuscinosis neuronal 1 ?
Answer: What are the signs and symptoms of Ceroid lipofuscinosis neuronal 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Ceroid lipofuscinosis neuronal 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) Abnormality of metabolism/homeostasis - Ataxia - Autosomal recessive inheritance - Blindness - Cerebral atrophy - Decreased light- and dark-adapted electroretinogram amplitude - Depression - EEG abnormality - Flexion contracture - Hallucinations - Increased neuronal autofluorescent lipopigment - Intellectual disability - Irritability - Loss of speech - Macular degeneration - Muscular hypotonia - Myoclonus - Onset - Optic atrophy - Postnatal microcephaly - Progressive microcephaly - Progressive visual loss - Psychomotor deterioration - Retinal degeneration - Seizures - Sleep disturbance - Spasticity - Undetectable electroretinogram - 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: Deafness, epiphyseal dysplasia, short stature
Question: What are the symptoms of Deafness, epiphyseal dysplasia, short stature ?
Answer: What are the signs and symptoms of Deafness, epiphyseal dysplasia, short stature? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, epiphyseal dysplasia, short stature. 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) Hearing impairment 90% Short stature 90% Abnormal form of the vertebral bodies 50% Cognitive impairment 50% Hyperlordosis 50% Lacrimation abnormality 50% Myopia 50% Pointed chin 50% Short neck 50% Short thorax 50% Triangular face 50% Umbilical hernia 50% Brachydactyly syndrome 7.5% Frontal bossing 7.5% Neurological speech impairment 7.5% Retinal detachment 7.5% Abnormality of femoral epiphysis - Autosomal recessive inheritance - Growth delay - Inguinal hernia - Intellectual disability, moderate - Lacrimal duct stenosis - Sensorineural hearing 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.
Source: GARD
Topic: Osteogenesis imperfecta type VII
Question: What are the symptoms of Osteogenesis imperfecta type VII ?
Answer: What are the signs and symptoms of Osteogenesis imperfecta type VII? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type VII. 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) Absent pulmonary artery - Autosomal recessive inheritance - Blue sclerae - Bowing of the legs - Breech presentation - Coxa vara - Crumpled long bones - Death in infancy - Decreased calvarial ossification - Delayed cranial suture closure - Externally rotated/abducted legs - Hydronephrosis - Hypoplastic pulmonary veins - Long philtrum - Micromelia - Multiple prenatal fractures - Multiple rib fractures - Narrow chest - Osteopenia - Pectus excavatum - Proptosis - Protrusio acetabuli - Recurrent fractures - Rhizomelia - Round face - Scoliosis - Vertebral compression fractures - Wide anterior fontanel - Wide cranial sutures - Wormian bones - 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: Premature aging Okamoto type
Question: What are the symptoms of Premature aging Okamoto type ?
Answer: What are the signs and symptoms of Premature aging Okamoto type? The Human Phenotype Ontology provides the following list of signs and symptoms for Premature aging Okamoto 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) Abnormality of blood and blood-forming tissues - Abnormality of the hair - Abnormality of the pinna - Cataract - Depressed nasal bridge - Diabetes mellitus - Growth abnormality - Low-set ears - Microcephaly - Neoplasm - Osteoporosis - Osteosarcoma - Round face - 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