Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Proximal chromosome 18q deletion syndrome ? 
 What are the signs and symptoms of Proximal chromosome 18q deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Proximal chromosome 18q deletion 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) Absence of the pulmonary valve - Aortic valve stenosis - Asthma - Atopic dermatitis - Atresia of the external auditory canal - Atria septal defect - Autosomal dominant inheritance - Bifid uvula - Blepharophimosis - Broad-based gait - Cerebellar hypoplasia - Choanal stenosis - Chorea - Cleft palate - Cleft upper lip - Conductive hearing impairment - Congestive heart failure - Cryptorchidism - Delayed CNS myelination - Depressed nasal bridge - Dilatation of the ascending aorta - Downturned corners of mouth - Dysplastic aortic valve - Dysplastic pulmonary valve - Epicanthus - Failure to thrive in infancy - Flat midface - Growth hormone deficiency - Hypertelorism - Hypoplasia of midface - Hypospadias - Inguinal hernia - Intellectual disability - Joint laxity - Low anterior hairline - Macrotia - Malar flattening - Mandibular prognathia - Microcephaly - Micropenis - Motor delay - Muscular hypotonia - Nystagmus - Optic atrophy - Overlapping toe - Patent ductus arteriosus - Pes cavus - Pes planus - Phenotypic variability - Poor coordination - Prominent nose - Proximal placement of thumb - Recurrent respiratory infections - Rocker bottom foot - Scoliosis - Secretory IgA deficiency - Seizures - Sensorineural hearing impairment - Short neck - Short palpebral fissure - Short philtrum - Short stature - Sporadic - Stenosis of the external auditory canal - Strabismus - Talipes equinovarus - Tapetoretinal degeneration - Toe syndactyly - Tremor - Umbilical hernia - U-Shaped upper lip vermilion - Ventricular septal defect - Ventriculomegaly - 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 Cataract Hutterite type ? 
 What are the signs and symptoms of Cataract Hutterite type? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract Hutterite 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) Autosomal recessive inheritance - Congenital cataract - Juvenile cataract - 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) Mucopolysaccharidosis type IIID ? 
 Mucopolysaccharidosis type IIID (MPS IIID) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. MPS IIID is caused by the missing or deficient enzyme N-acetylglucosamine 6-sulfatase. MPS IIID is inherited in an autosomal recessive manner. There is no specific treatment for this condition. Most people with MPS IIID live into their teenage years, and some live longer.
What are the symptoms of Mucopolysaccharidosis type IIID ? 
 What are the signs and symptoms of Mucopolysaccharidosis type IIID? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IIID. 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 speech - Anteverted nares - Asymmetric septal hypertrophy - Autosomal recessive inheritance - Cellular metachromasia - Coarse facial features - Coarse hair - Depressed nasal bridge - Diarrhea - Drooling - Dysarthria - Dysostosis multiplex - Dysphagia - Flexion contracture - Frontal bossing - Growth abnormality - Hearing impairment - Heparan sulfate excretion in urine - Hepatomegaly - Hirsutism - Hyperactivity - Intellectual disability - Joint stiffness - Low-set ears - Ovoid thoracolumbar vertebrae - Progressive - Prominent forehead - Recurrent upper respiratory tract infections - Seizures - Short neck - Sleep disturbance - Splenomegaly - Synophrys - Thick eyebrow - Thick lower lip vermilion - Thickened ribs - Wide mouth - 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) Naegeli syndrome ? 
 Naegeli syndrome belongs to a group of disorders known as ectodermal dysplasias. This condition is characterized by absent fingerprints, thickening of the palms and soles (palmoplantar keratoderma), decreased sweating (hypohidrosis), heat intolerance, patches of darker (hyperpigmented) skin, brittle nails, abnormally colored teeth, and early tooth loss. Naegeli syndrome is caused by mutations in the KRT14 gene and inherited in an autosomal dominant manner. Treatment is based on an individual's symptoms.
What are the symptoms of Naegeli syndrome ? 
 What are the signs and symptoms of Naegeli syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Naegeli 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 dental enamel 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Irregular hyperpigmentation 90% Palmoplantar keratoderma 90% Autosomal dominant inheritance - Carious teeth - Fragile nails - Heat intolerance - Hypohidrosis - Premature loss of teeth - Reticular hyperpigmentation - 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.
How to diagnose Naegeli syndrome ? 
 How is Naegeli syndrome diagnosed? In most cases of Naegeli syndrome, a diagnosis is made based on the typical clinical features of this condition. The clinical diagnosis may be confirmed by genetic testing of the KRT14 gene.  GeneTests lists a laboratory that performs genetic testing of the KRT14 gene. If you are interested in genetic testing for this condition, we recommend that you consult with a genetics professional.
What are the treatments for Naegeli syndrome ? 
 Is there a treatment for Naegeli syndrome? Treatment for Naegeli syndrome is based on an individual's symptoms. Dry skin can be moisturized with creams. To avoid overheating, affected individuals should wear appropriate clothing and use wet dressings. Dental care is needed treat cavities and tooth loss.
What are the symptoms of Flynn Aird syndrome ? 
 What are the signs and symptoms of Flynn Aird syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Flynn Aird 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) Aplasia/Hypoplasia of the skin 90% Myopia 90% Sensorineural hearing impairment 90% Visual impairment 90% Abnormality of retinal pigmentation 50% Atherosclerosis 50% Bone cyst 50% Carious teeth 50% Cataract 50% Decreased body weight 50% Developmental regression 50% EEG abnormality 50% Impaired pain sensation 50% Incoordination 50% Kyphosis 50% Limitation of joint mobility 50% Neurological speech impairment 50% Scoliosis 50% Seizures 50% Skeletal muscle atrophy 50% Skin ulcer 50% Abnormality of movement 7.5% Abnormality of the thyroid gland 7.5% Cerebral calcification 7.5% Cerebral cortical atrophy 7.5% Primary adrenal insufficiency 7.5% Type II diabetes mellitus 7.5% Alopecia - Aphasia - Ataxia - Autosomal dominant inheritance - Dementia - Dermal atrophy - Hyperkeratosis - Increased bone density with cystic changes - Increased CSF protein - Joint stiffness - Kyphoscoliosis - Osteoporosis - Progressive sensorineural hearing impairment - Rod-cone dystrophy - 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) Anaplastic ganglioglioma ? 
 Anaplastic ganglioglioma (AGG) is a very rare type of brain tumor that is a type of ganglioglioma. In general, gangliogliomas are classified as grade I or low grade tumors, meaning that they grow slowly and are considered benign. Anaplastic gangliogliomas, however, are considered grade III or high grade tumors, which means that they are usually aggressive, malignant tumors. The main treatment is removal of the entire tumor during surgery.  If the entire tumor is not removed, it has the potential to recur and may require additional surgery or treatments, such as radiation therapy or chemotherapy.  Unfortunately, because gangliogliomas are quite rare, there is limited information to show that radiation therapy or chemotherapy are effective treatments for this condition.
What are the symptoms of Hemophagocytic lymphohistiocytosis, familial, 3 ? 
 What are the signs and symptoms of Hemophagocytic lymphohistiocytosis, familial, 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemophagocytic lymphohistiocytosis, familial, 3. 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) Reduced natural killer cell activity 13/13 Anemia 12/14 Granulocytopenia 11/14 Autosomal recessive inheritance - Fever - Hemophagocytosis - Hepatosplenomegaly - Hypertriglyceridemia - Hypofibrinogenemia - 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 Keratoderma palmoplantar spastic paralysis ? 
 What are the signs and symptoms of Keratoderma palmoplantar spastic paralysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratoderma palmoplantar spastic paralysis. 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 fingernails 90% Abnormality of the toenails 90% EMG abnormality 90% Gait disturbance 90% Muscle weakness 90% Palmoplantar keratoderma 90% Paresthesia 90% Pes cavus 90% Hemiplegia/hemiparesis 50% Hypertonia 50% Autosomal dominant inheritance - Heterogeneous - Motor axonal neuropathy - Nail dysplasia - Nail dystrophy - Sensory axonal neuropathy - 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) Birt-Hogg-Dube syndrome ? 
 Birt-Hogg-Dube syndrome (BHDS) is a rare, complex, genetic disorder with three main clinical findings: non-cancerous (benign) skin tumors; lung cysts and/or history of pneumothorax (collapsed lung); and various types of renal tumors. Fibrofolliculomas are a type of benign skin tumor specific to BHDS. They typically occur on the face, neck, and upper torso. Most people with BHDS also have multiple cysts in both lungs that can be seen on high-resolution chest CT scan. While these cysts usually do not cause any symptoms, they put people at increased risk for spontaneous pneumothorax. BHDS is caused by mutations in the FLCN gene. The condition is inherited in an autosomal dominant fashion.
What are the symptoms of Birt-Hogg-Dube syndrome ? 
 What are the signs and symptoms of Birt-Hogg-Dube syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Birt-Hogg-Dube 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 skin 90% Emphysema 90% Abnormality of retinal pigmentation 50% Multiple lipomas 50% Neoplasm of the gastrointestinal tract 7.5% Neoplasm of the parathyroid gland 7.5% Neoplasm of the thyroid gland 7.5% Renal neoplasm 7.5% Salivary gland neoplasm 7.5% Abnormality of the abdomen - Abnormality of the hair - Autosomal dominant inheritance - Fibrofolliculoma - Renal cell carcinoma - Renal cyst - Spontaneous pneumothorax - 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 Birt-Hogg-Dube syndrome ? 
 How might lung cysts associated with Birt-Hogg-Dube syndrome be treated? At the time of diagnosis of Birt-Hogg-Dube (BHD) syndrome, a computed tomography (CT) scan, or high resolution CT scan if available, should be done to determine the number, location, and size of any cysts in the lungs.  There is no recommended management of the lung cysts.  Lung cysts related to BHD have not been associated with long-term disability or fatality.  The main concern is that the cysts may increase the chance of developing a collapsed lung (pneumothorax). If an individual with BHD experiences any symptoms of a collapsed lung - such as chest pain, discomfort, or shortness of breath - they should immediately go to a physician for a chest x-ray or CT scan.  Therapy of a collapsed lung depends on the symptoms, how long it has been present, and the extent of any underlying lung conditions.  It is thought that collapsed lung can be prevented by avoiding scuba diving, piloting airplanes, and cigarette smoking. Individuals with BHD who have a history of multiple instances of collapsed lung or signs of lung disease are encouraged to see a lung specialist (pulmonologist).
What are the symptoms of Metachromatic leukodystrophy due to saposin B deficiency ? 
 What are the signs and symptoms of Metachromatic leukodystrophy due to saposin B deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Metachromatic leukodystrophy due to saposin B 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) Abnormality of the periventricular white matter - Autosomal recessive inheritance - Babinski sign - CNS demyelination - Decreased nerve conduction velocity - Developmental regression - Dysarthria - Dysphagia - Gait ataxia - Hyperreflexia - Hyporeflexia - Loss of speech - Mental deterioration - Muscular hypotonia - Peripheral demyelination - Polyneuropathy - Seizures - Spastic tetraparesis - Urinary incontinence - Variable expressivity - 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) Hemolytic uremic syndrome ? 
 Hemolytic uremic syndrome (HUS) is a disorder that usually occurs when an  E. coli bacterial infection in the digestive system produces toxic substances that destroy red blood cells. Symptoms include vomiting and diarrhea, fever, lethargy, and weakness. In severe cases it can lead to kidney failure or death. While this condition is most common in children, it often has a more complicated presentation in adults. Treatment may include dialysis, corticosteroids, transfusions of packed red blood cells and plasmapheresis.   Hemolytic uremic syndrome should be distinguished from atypical hemolytic uremic syndrome (aHUS). The two conditions have different causes and different signs and symptoms.