falan42/medcuad_data huggingface dataset:
Topic: Osteogenesis imperfecta Levin type
Question: What are the symptoms of Osteogenesis imperfecta Levin type ?
Answer: What are the signs and symptoms of Osteogenesis imperfecta Levin type? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta Levin 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) Abnormal cortical bone morphology 90% Abnormality of the mandible 90% Bowing of the long bones 90% Advanced eruption of teeth 50% Osteomyelitis 50% Reduced bone mineral density 50% Recurrent fractures 7.5% Scoliosis 7.5% Autosomal dominant inheritance - Diaphyseal cortical sclerosis - Increased susceptibility to fractures - Osteopenia - 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: Valinemia
Question: What is (are) Valinemia ?
Answer: Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine. Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzyme valine transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known. Treatment includes a diet low in valine (introduced during early infancy) which usually improves symptoms and brings valine levels to normal.
(Source: GARD)
Topic: Valinemia
Question: What are the symptoms of Valinemia ?
Answer: What are the signs and symptoms of Valinemia? Valinemia is thought to be extremely rare and has been described in only a few people. The condition is reportedly present from birth. Symptoms in the newborn period include lack of appetite, protein intolerance, metabolic acidosis, frequent vomiting, failure to thrive, and/or coma. The condition can become life-threatening. Abnormally low muscle tone (hypotonia); hyperkinesia; hyperactivity; excessive drowsiness; and delayed mental and physical development have also been reported. The Human Phenotype Ontology provides the following list of signs and symptoms for Valinemia. 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 - Drowsiness - Failure to thrive - Hyperkinesis - Hypervalinemia - Muscle weakness - 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: Valinemia
Question: What are the treatments for Valinemia ?
Answer: How might valinemia be treated? Due to the rarity of valinemia, information about treatment in the medical literature is very limited. A diet low in valine introduced during early infancy is thought to improve symptoms of the condition and lower valine concentrations in the blood to normal levels.
(Source: GARD)
Topic: Porencephaly
Question: What is (are) Porencephaly ?
Answer: Porencephaly is a rare condition that affects the central nervous system. People with porencephaly develop fluid-filled cysts or cavities in the brain either before or shortly after birth. The severity of the condition and the associated signs and symptoms vary significantly based on the size, location, and number of cysts. Common features include developmental delay, reduced muscle tone (hypotonia), seizures, macrocephaly (unusually large head size), spastic hemiplegia, speech problems, delayed growth, and intellectual disability. Porencephaly is usually the result of damage from infection or stroke after birth. In these cases, the condition occurs sporadically in people with no family history of the condition. There is an inherited form of the condition called familial porencephaly, which is caused by changes (mutations) in the COL4A1 or COL4A2 genes and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include physical therapy and medication for seizures.
(Source: GARD)
Topic: Porencephaly
Question: What are the symptoms of Porencephaly ?
Answer: What are the signs and symptoms of Porencephaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Porencephaly. 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 movement 90% Hypertonia 90% Ventriculomegaly 90% Cognitive impairment 50% Hemiplegia/hemiparesis 50% Autosomal dominant inheritance - Babinski sign - Cerebellar atrophy - Elevated serum creatine phosphokinase - Exotropia - Hemiplegia - Hemolytic anemia - Hydrocephalus - Incomplete penetrance - Intellectual disability - Intracranial hemorrhage - Ischemic stroke - Leukoencephalopathy - Limb dystonia - Porencephaly - Schizencephaly - Seizures - Spasticity - Tetraparesis - Variable expressivity - Visual field defect - 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: Lethal chondrodysplasia Moerman type
Question: What are the symptoms of Lethal chondrodysplasia Moerman type ?
Answer: What are the signs and symptoms of Lethal chondrodysplasia Moerman type? The Human Phenotype Ontology provides the following list of signs and symptoms for Lethal chondrodysplasia Moerman 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 epiphysis morphology 90% Abnormality of female internal genitalia 90% Abnormality of the cranial nerves 90% Abnormality of the metaphyses 90% Abnormality of the pulmonary artery 90% Abnormality of the ribs 90% Abnormality of the thumb 90% Aplasia/Hypoplasia of the lungs 90% Blue sclerae 90% Brachydactyly syndrome 90% Cleft palate 90% Dandy-Walker malformation 90% Intestinal malrotation 90% Kyphosis 90% Macrocephaly 90% Micromelia 90% Narrow chest 90% Polyhydramnios 90% Renal hypoplasia/aplasia 90% Scoliosis 90% Short stature 90% Ventricular septal defect 90% Vertebral segmentation defect 90% 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: Doyne honeycomb retinal dystrophy
Question: What is (are) Doyne honeycomb retinal dystrophy ?
Answer: Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized by small, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium (the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies. The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner.
(Source: GARD)
Topic: Doyne honeycomb retinal dystrophy
Question: What are the symptoms of Doyne honeycomb retinal dystrophy ?
Answer: What are the signs and symptoms of Doyne honeycomb retinal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Doyne honeycomb retinal 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) Autosomal dominant inheritance - Reticular pigmentary degeneration - Retinal dystrophy - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
(Source: GARD)
Topic: Doyne honeycomb retinal dystrophy
Question: Is Doyne honeycomb retinal dystrophy inherited ?
Answer: How is Doyne honeycomb retinal dystrophy inherited? Doyne honeycomb retinal dystrophy (DHRD) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs and symptoms of the condition.  When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated gene from the affected parent. Children who do not inherit the mutated gene will not develop or pass on the disease.
(Source: GARD)
Topic: Doyne honeycomb retinal dystrophy
Question: What are the treatments for Doyne honeycomb retinal dystrophy ?
Answer: How might Doyne honeycomb retinal dystrophy (DHRD) be treated? There is currently no cure for Doyne honeycomb retinal dystrophy (DHRD) and treatment options are limited. Management of hereditary retinal dystrophies generally focuses on vision rehabilitation, which involves the use of low vision aids, orientation, and mobility training. The goal of visual rehabilitation is to reach maximum function, a sense of well being, a personally satisfying level of independence, and optimum quality of life. Choroidal neovascularization (CNV), the growth of new blood vessels in the choroid, can develop in people with DHRD and has a poor visual prognosis. The authors of a 2011 study reported that 2 people with DHRD and CNV were treated with a course of intravitreal bevacizumab (injected into the eye). This treatment stopped fluid leakage and led to increased visual acuity. They proposed that recovery of visual acuity after treatment of CNV in these cases shows that the loss of retinal function may be reversible. However, this finding needs to be confirmed in more studies with a larger number of participants. There was also a case report of a person with malattia leventinese (a condition very similar to DHRD and sometimes considered the same) who was treated successfully with photodynamic therapy using verteporfin. The treatment reportedly prevented severe visual loss in the patient. The authors of this case report proposed that photodynamic therapy be considered as a possible treatment in patients with malattia leventinese or DHRD who develop CNV.   You may consider participating in a clinical trial for treatment of retinal dystrophy. The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies.  There are many clinical trials currently enrolling individuals with hereditary retinal dystrophy. View a list of these studies here. After you click on a study, review its eligibility criteria to determine its appropriateness. We suggest reviewing the list of studies with your physician. Use the studys contact information to learn more. You can check this site often for regular updates. Use "retinal dystrophy" or "Doyne honeycomb retinal dystrophy" as your search term.
(Source: GARD)
Topic: Familial joint instability syndrome
Question: What are the symptoms of Familial joint instability syndrome ?
Answer: What are the signs and symptoms of Familial joint instability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial joint instability 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 hip bone 90% Joint hypermobility 90% Patellar dislocation 90% Abnormality of the elbow 7.5% Abnormality of the femur 7.5% Abnormality of the shoulder 7.5% Hernia of the abdominal wall 7.5% Autosomal dominant inheritance - Congenital hip dislocation - Joint laxity - 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: 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency
Question: What are the symptoms of 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency ?
Answer: What are the signs and symptoms of 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 3 alpha methylcrotonyl-CoA carboxylase 2 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) Alopecia - Autosomal recessive inheritance - Hyperglycinuria - Ketoacidosis - Muscular hypotonia - Organic aciduria - Propionyl-CoA carboxylase deficiency - Seborrheic dermatitis - Skeletal muscle atrophy - 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: Osteopetrosis autosomal recessive 7
Question: What is (are) Osteopetrosis autosomal recessive 7 ?
Answer: Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis.
(Source: GARD)
Topic: Osteopetrosis autosomal recessive 7
Question: What are the symptoms of Osteopetrosis autosomal recessive 7 ?
Answer: What are the signs and symptoms of Osteopetrosis autosomal recessive 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 7. 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) Decreased antibody level in blood 3/4 Abnormal trabecular bone morphology - Anemia - Autosomal recessive inheritance - Nystagmus - Optic nerve compression - Osteopetrosis - Progressive visual loss - Recurrent pneumonia - 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: Dystonia 2, torsion, autosomal recessive
Question: What are the symptoms of Dystonia 2, torsion, autosomal recessive ?
Answer: What are the signs and symptoms of Dystonia 2, torsion, autosomal recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 2, torsion, autosomal recessive. 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 - Blepharospasm - Dysarthria - Dysphagia - Juvenile onset - Torsion dystonia - Torticollis - Tremor - 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)