Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Hypertrophic neuropathy of Dejerine-Sottas ? 
 What are the signs and symptoms of Hypertrophic neuropathy of Dejerine-Sottas? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrophic neuropathy of Dejerine-Sottas. 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) Nystagmus 5% Areflexia - Autosomal dominant inheritance - Autosomal recessive inheritance - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal sensory impairment - Foot dorsiflexor weakness - Hammertoe - Heterogeneous - Hypertrophic nerve changes - Hyporeflexia - Increased CSF protein - Infantile onset - Kyphoscoliosis - Motor delay - Muscular hypotonia - Onion bulb formation - Pes cavus - Segmental peripheral demyelination/remyelination - Sensory ataxia - Steppage gait - Ulnar claw - 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 are the symptoms of Martsolf syndrome ? 
 What are the signs and symptoms of Martsolf syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Martsolf 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 dermatoglyphics 90% Cataract 90% Cognitive impairment 90% Furrowed tongue 90% Hypoplasia of the zygomatic bone 90% Low posterior hairline 90% Malar flattening 90% Microcephaly 90% Prematurely aged appearance 90% Short philtrum 90% Short stature 90% Abnormality of calvarial morphology 50% Abnormality of the distal phalanx of finger 50% Abnormality of the palate 50% Abnormality of the teeth 50% Abnormality of the toenails 50% Cryptorchidism 50% Depressed nasal bridge 50% Hyperlordosis 50% Hypotelorism 50% Low-set, posteriorly rotated ears 50% Ulnar deviation of finger 50% Abnormality of the antihelix 7.5% Cerebral cortical atrophy 7.5% Scoliosis 7.5% Autosomal recessive inheritance - Brachycephaly - Broad fingertip - Broad nasal tip - Cardiomyopathy - Congestive heart failure - Epicanthus - Feeding difficulties in infancy - High palate - Hypogonadotrophic hypogonadism - Hypoplasia of the maxilla - Intellectual disability, progressive - Intellectual disability, severe - Lumbar hyperlordosis - Micropenis - Misalignment of teeth - Pectus carinatum - Pectus excavatum - Posteriorly rotated ears - Prominent antitragus - Prominent nipples - Recurrent respiratory infections - Short metacarpal - Short palm - Short phalanx of finger - Short toe - Slender ulna - Talipes equinovarus - Talipes valgus - Tracheomalacia - 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 Atelosteogenesis type 1 ? 
 What are the signs and symptoms of Atelosteogenesis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Atelosteogenesis type 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) 11 pairs of ribs - Aplasia/Hypoplasia of the ulna - Brachydactyly syndrome - Cleft palate - Clubbing - Club-shaped proximal femur - Coronal cleft vertebrae - Cryptorchidism - Depressed nasal bridge - Distal tapering femur - Elbow dislocation - Encephalocele - Fibular aplasia - Frontal bossing - Fused cervical vertebrae - Hypoplasia of midface - Laryngeal stenosis - Malar flattening - Multinucleated giant chondrocytes in epiphyseal cartilage - Narrow chest - Neonatal death - Polyhydramnios - Premature birth - Proptosis - Radial bowing - Rhizomelia - Short femur - Short humerus - Short metacarpal - Short metatarsal - Short neck - Short nose - Sporadic - Stillbirth - Talipes equinovarus - Thoracic platyspondyly - Tibial bowing - 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 Hemifacial hyperplasia strabismus ? 
 What are the signs and symptoms of Hemifacial hyperplasia strabismus? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemifacial hyperplasia strabismus. 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) Facial asymmetry 90% Cleft palate 50% Dental malocclusion 50% Strabismus 50% Telecanthus 50% Upslanted palpebral fissure 50% Visual impairment 50% Amblyopia - Autosomal dominant inheritance - Hemifacial hypertrophy - Submucous cleft hard palate - 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) Pycnodysostosis ? 
 Pycnodysostosis is a rare condition characterized by moderate short stature (1.35m to 1.5m), increased density of the bones (osteosclerosis/osteopetrosis), underdevelopment of the tips of the fingers with absent or small nails, an abnomal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead and dental abnormalities. Pycnodysostosis is an autosomal recessive genetic condition.  The gene has been mapped to the same location as the gene for cathepsin K on chromosome 1q21.  The diagnosis of pycnodysostosis is based on physical features and X-ray findings.  Molecular genetic testing is available.  Management is symptomatic.  Individuals need orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery may be needed.
What are the symptoms of Pycnodysostosis ? 
 What are the signs and symptoms of Pycnodysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pycnodysostosis. 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 the clavicle 90% Abnormality of the fingernails 90% Abnormality of the palate 90% Brachydactyly syndrome 90% Delayed eruption of teeth 90% Frontal bossing 90% High forehead 90% Malar flattening 90% Osteolysis 90% Recurrent fractures 90% Short distal phalanx of finger 90% Short stature 90% Short toe 90% Skeletal dysplasia 90% Abnormality of dental morphology 50% Anonychia 50% Blue sclerae 50% Bone pain 50% Proptosis 50% Wormian bones 50% Abnormal pattern of respiration 7.5% Abnormality of pelvic girdle bone morphology 7.5% Anemia 7.5% Cognitive impairment 7.5% Hepatomegaly 7.5% Hydrocephalus 7.5% Hyperlordosis 7.5% Kyphosis 7.5% Narrow chest 7.5% Osteomyelitis 7.5% Splenomegaly 7.5% Abnormality of the thorax - Absent frontal sinuses - Autosomal recessive inheritance - Carious teeth - Delayed eruption of permanent teeth - Delayed eruption of primary teeth - Hypodontia - Increased bone mineral density - Narrow palate - Osteolytic defects of the distal phalanges of the hand - Persistence of primary teeth - Persistent open anterior fontanelle - Prominent nose - Prominent occiput - Ridged nail - Scoliosis - Spondylolisthesis - Spondylolysis - 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 Subaortic stenosis short stature syndrome ? 
 What are the signs and symptoms of Subaortic stenosis short stature syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Subaortic stenosis short stature 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 aorta 90% Abnormality of the voice 90% Anteverted nares 90% Arrhythmia 90% Short stature 90% Hernia of the abdominal wall 50% Kyphosis 50% Obesity 50% Respiratory insufficiency 50% Scoliosis 50% Abnormality of lipid metabolism 7.5% Acne 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Biliary tract abnormality 7.5% Cognitive impairment 7.5% Epicanthus 7.5% Low-set, posteriorly rotated ears 7.5% Microdontia 7.5% Nystagmus 7.5% Short neck 7.5% Single transverse palmar crease 7.5% Synostosis of carpal bones 7.5% Type II diabetes mellitus 7.5% Autosomal recessive inheritance - Barrel-shaped chest - Broad finger - Broad toe - Diastema - Flat face - Glaucoma - Growth delay - Hypoplasia of midface - Hypoplasia of the maxilla - Intellectual disability - Low-set ears - Malar flattening - Membranous subvalvular aortic stenosis - Microcornea - Microphthalmia - Narrow mouth - Opacification of the corneal stroma - Pectus excavatum - Round face - Shield chest - Short foot - Short nose - Short palm - Short phalanx of finger - Short toe - Short upper lip - Small hand - Strabismus - Subaortic stenosis - Wide intermamillary distance - Wide nasal bridge - 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) Fabry disease ? 
 Fabry disease is an inherited disorder that results from the buildup of a particular type of fat in the body's cells, called globotriaosylceramide or GL-3. Fabry disease affects many parts of the body. Signs and symptoms may include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); and hearing loss. Potentially severe complications can include progressive kidney damage, heart attack, and stroke. Milder forms of the disorder may appear later in life and affect only the heart or kidneys. Fabry disease is caused by mutations in the GLA gene and is inherited in an X-linked manner. Treatment may include enzyme replacement therapy (ERT); pain medications, ACE inhibitors; and chronic hemodialysis or renal transplantation for end stage renal disease.
What are the symptoms of Fabry disease ? 
 What are the signs and symptoms of Fabry disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Fabry disease. 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) Abdominal pain 90% Anemia 90% Arthralgia 90% Arthritis 90% Cerebral ischemia 90% Congestive heart failure 90% Conjunctival telangiectasia 90% Corneal dystrophy 90% Hematuria 90% Hyperkeratosis 90% Hypohidrosis 90% Malabsorption 90% Myalgia 90% Nephrotic syndrome 90% Opacification of the corneal stroma 90% Paresthesia 90% Renal insufficiency 90% Telangiectasia of the skin 90% Abnormality of lipid metabolism 50% Abnormality of the aortic valve 50% Abnormality of the genital system 50% Abnormality of the mitral valve 50% Abnormality of the renal tubule 50% Anorexia 50% Arrhythmia 50% Behavioral abnormality 50% Cataract 50% Coarse facial features 50% Cognitive impairment 50% Emphysema 50% Nausea and vomiting 50% Nephropathy 50% Optic atrophy 50% Proteinuria 50% Short stature 50% Thick lower lip vermilion 50% Abnormality of temperature regulation 7.5% Abnormality of the endocardium 7.5% Abnormality of the femur 7.5% Chronic obstructive pulmonary disease 7.5% Coronary artery disease 7.5% Developmental regression 7.5% Diabetes insipidus 7.5% Glomerulopathy 7.5% Hypertension 7.5% Hypertrophic cardiomyopathy 7.5% Lymphedema 7.5% Reduced bone mineral density 7.5% Respiratory insufficiency 7.5% Seizures 7.5% Sensorineural hearing impairment 7.5% Vertigo 7.5% Abnormality of the hand - Angina pectoris - Angiokeratoma - Delayed puberty - Diarrhea - Dysautonomia - Fasciculations - Juvenile onset - Left ventricular hypertrophy - Left ventricular septal hypertrophy - Muscle cramps - Myocardial infarction - Nausea - Obstructive lung disease - Tenesmus - Transient ischemic attack - Vomiting - 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.
Is Fabry disease inherited ? 
 How is Fabry disease inherited? Fabry disease is inherited in an X-linked pattern, which means that the gene that causes the condition is located on the X chromosome. In males (who have only one X chromosome), one mutated copy of the gene is enough to cause symptoms of the condition. Because females have two copies of the X chromosome, one mutated copy of the gene in each cell usually leads to less severe symptoms in females than in males, or may cause no symptoms at all.
What are the treatments for Fabry disease ? 
 How might Fabry disease be treated? Management for Fabry disease may include treatment of specific signs and symptoms as well as prevention of secondary complications. Treatment for acroparesthesias (pain in the extremities) may include diphenylhydantoin and/or carbamazepine to reduce the frequency and severity of pain crises; or gabapentin, which has also been shown to improve pain. Renal insufficiency may be treated with ACE inhibitors. Experts recommend ACE inhibitors for all individuals with evidence of kidney involvement, especially to reduce protein in the urine (proteinuria). Chronic hemodialysis and/or renal transplantation have become lifesaving procedures for affected individuals. The transplanted kidney remains free of the harmful fatty substance (glycosphingolipid) deposition. Therefore, successful renal transplantation corrects the renal function. Transplantation of kidneys from carriers for Fabry disease should be avoided because these kidneys may already be affected. All potential donors that are relatives of the affected individual should be evaluated for their genetic status to make sure they are not affected or a carrier. Enzyme replacement therapy (ERT) is generally used to improve some of the the signs and symptoms associated with Fabry disease and to stabilize organ function. Experts have recommended that ERT be started as early as possible in all males with Fabry disease (including children and those with end stage renal disease (ESRD) undergoing dialysis and renal transplantation) and in female carriers that are significantly affected. All of these individuals are at high risk for cardiac, cerebrovascular (interruption of blood supply to the brain), and neurologic complications, such as transient ischemic attacks and strokes. The role of ERT in the long-term prevention of renal, cardiac, and central nervous system (CNS) involvement is unproven; however, because ERT can stabilize organ function in individuals with more advanced disease, some have suggested starting ERT in early disease stages. This might include starting ERT when an individual is asymptomatic. Prevention of complications such as renovascular disease (conditions affecting the blood vessels of the kidneys), ischemic heart disease, and cerebrovascular disease in affected individuals is generally the same as for the general population. Measures taken may include ACE inhibitors and/or ARB drugs for proteinuria or albuminemia (high levels of albumin in the blood); blood pressure control; and cholesterol control. Aspirin and other medications may be recommended for the prevention of stroke. Surveillance may include yearly or more frequent renal function studies, yearly cardiology evaluation, and yearly hearing evaluation.
What are the symptoms of Ulna and fibula, hypoplasia of ? 
 What are the signs and symptoms of Ulna and fibula, hypoplasia of? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulna and fibula, hypoplasia of. 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 fibula 90% Abnormality of the tibia 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the radius 90% Elbow dislocation 90% Micromelia 90% Sacrococcygeal pilonidal abnormality 90% Ulnar deviation of finger 90% Synostosis of carpal bones 50% Myopia 7.5% Strabismus 7.5% Autosomal dominant inheritance - Fibular hypoplasia - Hypoplasia of the ulna - Neonatal short-limb short stature - 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.