Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Noonan syndrome 1 ? 
 What are the signs and symptoms of Noonan syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 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) Intellectual disability 25% Hypogonadism 7.5% Abnormal bleeding - Amegakaryocytic thrombocytopenia - Atria septal defect - Autosomal dominant inheritance - Brachydactyly syndrome - Clinodactyly - Coarctation of aorta - Cryptorchidism - Cubitus valgus - Cystic hygroma - Dental malocclusion - Epicanthus - Failure to thrive in infancy - Heterogeneous - High palate - Hypertelorism - Hypertrophic cardiomyopathy - Kyphoscoliosis - Low posterior hairline - Low-set, posteriorly rotated ears - Lymphedema - Male infertility - Myopia - Neurofibrosarcoma - Patent ductus arteriosus - Pectus excavatum of inferior sternum - Postnatal growth retardation - Ptosis - Pulmonic stenosis - Radial deviation of finger - Reduced factor XII activity - Reduced factor XIII activity - Sensorineural hearing impairment - Shield chest - Short neck - Short stature - Superior pectus carinatum - Synovitis - Triangular face - Ventricular septal defect - Webbed neck - 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.
What are the treatments for Noonan syndrome 1 ? 
 How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabilities are addressed by early intervention programs and individualized education strategies. Treatment for serious bleeding depends upon the specific factor deficiency or platelet abnormality. Growth hormone treatment increases growth velocity. More detailed information about treatment for Noonan syndrome can be viewed on the GeneReviews Web site.
What are the symptoms of Isolated anterior cervical hypertrichosis ? 
 What are the signs and symptoms of Isolated anterior cervical hypertrichosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated anterior cervical hypertrichosis. 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 neck 90% Hypertrichosis 90% Cubitus valgus 7.5% Delayed skeletal maturation 7.5% Hypothyroidism 7.5% Low-set, posteriorly rotated ears 7.5% Short stature 7.5% Anterior cervical hypertrichosis - 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.
What are the symptoms of PEHO syndrome ? 
 What are the signs and symptoms of PEHO syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PEHO 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 eye movement 90% Abnormality of movement 90% Abnormality of the palate 90% Cerebral cortical atrophy 90% Cognitive impairment 90% EEG abnormality 90% Epicanthus 90% External ear malformation 90% Full cheeks 90% Hyperreflexia 90% Macrotia 90% Malar flattening 90% Muscular hypotonia 90% Narrow forehead 90% Open mouth 90% Optic atrophy 90% Seizures 90% Short nose 90% Sleep disturbance 90% Tapered finger 90% Visual impairment 90% Anteverted nares 50% Aplasia/Hypoplasia of the cerebellum 50% Edema of the lower limbs 50% Gingival overgrowth 50% Hydrocephalus 50% Limitation of joint mobility 50% Microcephaly 50% Palpebral edema 50% Porencephaly 50% Recurrent respiratory infections 50% Ventriculomegaly 50% Abnormality of the hand - Autosomal recessive inheritance - Cerebellar atrophy - Developmental stagnation - Edema - Feeding difficulties in infancy - Hypsarrhythmia - Infantile encephalopathy - Intellectual disability, profound - Neuronal loss in central nervous system - Peripheral dysmyelination - Progressive microcephaly - Retrognathia - Severe muscular hypotonia - Tented upper lip vermilion - Undetectable visual evoked potentials - 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.
What are the symptoms of Dystonia 6, torsion ? 
 What are the signs and symptoms of Dystonia 6, torsion? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 6, torsion. 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) Incomplete penetrance 60% Myoclonus 5% Abnormality of the head - Autosomal dominant inheritance - Dysarthria - Laryngeal dystonia - Limb dystonia - Oromandibular dystonia - Torsion dystonia - Torticollis - Writer's cramp - 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.
What is (are) X-linked agammaglobulinemia ? 
 X-linked agammaglobulinema is a primary immunodeficiency characterized by very low levels of immunoglobulins (proteins made by the immune system to help fight infections). People affected by this condition generally begin developing frequent and recurrent bacterial infections from about 6 months of age. Commonly diagnosed infections include lung infections (pneumonia and bronchitis), middle ear infections, conjunctivitis, sinus infections, various skin infections, and infections that are associated with chronic diarrhea. X-linked agammaglobulinemia is caused by changes (mutations) in the BTK gene and is inherited in an X-linked recessive manner. Treatment aims to boost the immune system, which may be accomplished by administering immunoglobulins through a vein (IVIG) or subcutaneously (SCIG). Frequent infections are generally treated with antibiotics.
What are the symptoms of X-linked agammaglobulinemia ? 
 What are the signs and symptoms of X-linked agammaglobulinemia? Affected infants are usually healthy for the first few months of life until they begin to develop recurrent bacterial infections. The most common bacterial infections are ear infections, pneumonia, pink eye, sinus infections, and infections that cause chronic diarrhea. These bacterial infections can be severe and life-threatening. Most affected individuals are not vulnerable to infections caused by viruses. Infections can usually be prevented with proper treatment. The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked agammaglobulinemia. 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 temperature regulation 90% Abnormality of the tonsils 90% Decreased antibody level in blood 90% Diarrhea 90% Inflammatory abnormality of the eye 90% Otitis media 90% Recurrent cutaneous abscess formation 90% Recurrent respiratory infections 90% Short stature 90% Sinusitis 90% Skin rash 90% Skin ulcer 90% Abnormality of neutrophils 50% Arthritis 50% Cellulitis 50% Meningitis 50% Sepsis 50% Abnormality of the liver 7.5% Alopecia 7.5% Anemia 7.5% Autoimmunity 7.5% Hypopigmented skin patches 7.5% Malabsorption 7.5% Osteomyelitis 7.5% Thrombocytopenia 7.5% Weight loss 7.5% Agammaglobulinemia - Conjunctivitis - Cor pulmonale - Delayed speech and language development - Encephalitis - Enteroviral dermatomyositis syndrome - Enteroviral hepatitis - Epididymitis - Hearing impairment - Lymph node hypoplasia - Neoplasm - Pneumonia - Prostatitis - Pyoderma - Recurrent urinary tract infections - Septic arthritis - X-linked recessive 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.
What are the treatments for X-linked agammaglobulinemia ? 
 How might X-linked agammaglobulinemia be treated? Managing X-linked agammaglobulinemia (XLA) mainly consists of preventing infections and treating infections aggressively when they do occur. Sudden infections in individuals with XLA are usually treated with antibiotics that are taken for at least twice as long as taken in healthy individuals. Preventing bacterial infections is very important for people with XLA. Gammaglobulin (a type of protein in the blood that contains antibodies to prevent or fight infections) is the main treatment for people with XLA. In the past, most people received this by intravenous (IV) infusion every two to four weeks. However, in the last few years, an increasing number of people have been receiving it by weekly subcutaneous injections. The choice of whether to receive it intravenously or by injection may just depend on what is most convenient for the doctor and/or patient. Sometimes, people with XLA have a reaction to gammaglobulin, which may include headaches, chills, backache, or nausea. These reactions are more likely to occur when they have a viral infection or when the brand of gammaglobulin has been changed. Some centers use chronic prophylactic antibiotics (continuous use of antibiotics) to prevent bacterial infections. Aggressive use of antibiotics lower the chance of chronic sinusitis and lung disease, which are common complications in individuals with XLA. Early diagnosis and treatment of bowel infections may decrease the risk of inflammatory bowel disease (IBD). Furthermore, children with XLA should not be given live viral vaccines. For example, they should be given inactivated polio vaccine (IPV) rather than the oral polio vaccine. The siblings of children with XLA should also be given inactivated polio vaccine (IPV) rather than oral polio vaccine in order to avoid infecting their affected sibling with live virus.
What are the symptoms of Curry Jones syndrome ? 
 What are the signs and symptoms of Curry Jones syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Curry Jones 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) Finger syndactyly 90% Hypertelorism 90% Hypopigmented skin patches 90% Abnormality of thumb phalanx 50% Aplasia/Hypoplasia affecting the eye 50% Aplasia/Hypoplasia of the corpus callosum 50% Aplasia/Hypoplasia of the skin 50% Cognitive impairment 50% Craniosynostosis 50% Facial asymmetry 50% Foot polydactyly 50% Hypertrichosis 50% Preaxial hand polydactyly 50% Toe syndactyly 50% Ventriculomegaly 50% Chorioretinal coloboma 7.5% Intestinal malrotation 7.5% Iris coloboma 7.5% Optic nerve coloboma 7.5% Abnormality of the skin - Agenesis of corpus callosum - Anal stenosis - Blepharophimosis - Coloboma - Microphthalmia - 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.
What are the symptoms of Spondyloepimetaphyseal dysplasia Shohat type ? 
 What are the signs and symptoms of Spondyloepimetaphyseal dysplasia Shohat type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia Shohat 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 bone mineral density 90% Abnormality of epiphysis morphology 90% Abnormality of the femur 90% Abnormality of the hip bone 90% Abnormality of the metaphyses 90% Abnormality of the ribs 90% Genu varum 90% Hyperlordosis 90% Micromelia 90% Platyspondyly 90% Short neck 90% Short thorax 90% Thin vermilion border 90% Depressed nasal bridge 50% Gait disturbance 50% Hepatomegaly 50% Joint hypermobility 50% Round face 50% Splenomegaly 50% Wormian bones 7.5% Abdominal distention - Abnormality of the abdominal wall - Autosomal recessive inheritance - Bell-shaped thorax - Central vertebral hypoplasia - Coxa vara - Delayed epiphyseal ossification - Disproportionate short stature - Fibular overgrowth - Flared metaphysis - Joint laxity - Lumbar hyperlordosis - Metaphyseal irregularity - Narrow greater sacrosciatic notches - Narrow vertebral interpedicular distance - Short femoral neck - Short ribs - Spondyloepimetaphyseal dysplasia - Vertebral hypoplasia - 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.
What are the symptoms of Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus ? 
 What are the signs and symptoms of Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus. 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% Dandy-Walker malformation 90% Dolichocephaly 90% Frontal bossing 90% Hydrocephalus 90% Hypertelorism 90% Optic atrophy 90% Cognitive impairment 50% Strabismus 50% Autosomal dominant inheritance - Posterior fossa cyst - Sagittal craniosynostosis - 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.
What is (are) Best vitelliform macular dystrophy ? 
 Best vitelliform macular dystrophy (BVMD) is a slowly progressive form of macular degeneration. It usually begins in childhood or adolescence, but age of onset and severity of vision loss can vary. Affected people first have normal vision, followed by decreased central visual acuity and distorted vision (metamorphopsia). Peripheral vision is not affected. BVMD is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has been reported. The condition is typically caused by mutations in the BEST1 gene; in a few cases the cause is unknown. Treatment is symptomatic and involves the use of low vision aids.
What are the symptoms of Best vitelliform macular dystrophy ? 
 What are the signs and symptoms of Best vitelliform macular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Best vitelliform macular 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 the macula 90% Visual impairment 90% Abnormality of color vision 50% Choroideremia 7.5% Visual field defect 7.5% Abnormal electroretinogram - Autosomal dominant inheritance - Cystoid macular degeneration - Macular dystrophy - Reduced visual acuity - 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.
What causes Best vitelliform macular dystrophy ? 
 What causes Best vitelliform macular dystrophy? Best vitelliform macular dystrophy (BVMD) is caused by changes (mutations) in the BEST1 gene. This gene gives the body instructions for making a protein called bestrophin. Bestrophin acts as a channel that controls the movement of chloride ions within the retina. It is thought that mutations in the BEST1 gene affect the shape of the channel and its ability to properly regulate the flow of chloride. However, it is unclear how exactly this relates to the specific features of BVMD.