Druvith/transformed_medDataset huggingface dataset:
What is (are) Michels syndrome ? 
 Michels syndrome is an extremely rare disorder characterized by the eyelid triad of blepharophimosis (a narrowing of the eye opening), blepharoptosis and epicanthus inversus (an upward fold of the skin of the lower eyelid near the inner corner of the eye), skeletal defects including craniosynostosis, cranial asymmetry, abnormality of the occipital bone (at the base of the skull), and radioulnar synostosis, cleft lip and palate, and mental deficiency. Only 10 cases have been reported in the medical literature. While the underlying cause of this condition remains unknown, it is believed to be transmitted as an autosomal recessive trait.  Based on phenotypic overlap and autosomal recessive inheritance, some researchers have suggested that Michels, Malpuech, Carnevale and Mingarelli syndromes represent a spectrum and should be referred to a 3MC syndrome (for Malpuech-Michels-Mingarelli-Carnevale).
What are the symptoms of Michels syndrome ? 
 What are the signs and symptoms of Michels syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Michels 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 - Abnormality of the anterior chamber - Autosomal recessive inheritance - Blepharophimosis - Broad foot - Cleft palate - Cleft upper lip - Clinodactyly of the 5th finger - Conductive hearing impairment - Conjunctival telangiectasia - Coronal craniosynostosis - Dental crowding - Epicanthus inversus - Glaucoma - Growth delay - Highly arched eyebrow - Hydronephrosis - Hypertelorism - Intellectual disability, mild - Lambdoidal craniosynostosis - Microcephaly - Omphalocele - Postnatal growth retardation - Ptosis - Radioulnar synostosis - Sacral dimple - Short 5th finger - Short foot - Single interphalangeal crease of fifth finger - Skull asymmetry - Spina bifida occulta - Supernumerary nipple - Underdeveloped supraorbital ridges - Wide anterior fontanel - 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 8q12 microduplication syndrome ? 
 What are the signs and symptoms of 8q12 microduplication syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 8q12 microduplication 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 chromosome segregation 90% Blepharophimosis 90% Cognitive impairment 90% Highly arched eyebrow 90% Muscular hypotonia 90% Sensorineural hearing impairment 90% Strabismus 90% Ventricular septal defect 90% Abnormality of calvarial morphology 50% Abnormality of the cranial nerves 50% Atria septal defect 50% Attention deficit hyperactivity disorder 50% Brachydactyly syndrome 50% Epicanthus 50% Long philtrum 50% Narrow mouth 50% Short toe 50% Telecanthus 50% Vesicoureteral reflux 50% Wide nasal bridge 50% 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) Chromosome 7q deletion ? 
 Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
What is (are) Membranous nephropathy ? 
 Membranous nephropathy is a kidney disease characterized by inflammation of the structures inside the kidney that help filter wastes and fluids. When the glomerular basement membrane becomes thickened, it does not work normally, allowing large amounts of protein to be lost in the urine. Symptoms develop gradually and may include swelling, fatigue, weight gain, and high blood pressure. In many cases, the underlying cause of membranous nephropathy is not known. Some cases are associated with other conditions (lupus), infections (hepatitis B and C), cancer or as a side effect of certain medications. The goal of treatment is to reduce symptoms and slow the progression of the disease.
What are the symptoms of Leri pleonosteosis ? 
 What are the signs and symptoms of Leri pleonosteosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Leri pleonosteosis. 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 form of the vertebral bodies 90% Abnormality of epiphysis morphology 90% Abnormality of the metacarpal bones 90% Abnormality of the metaphyses 90% Brachydactyly syndrome 90% Camptodactyly of finger 90% Genu recurvatum 90% Lack of skin elasticity 90% Limitation of joint mobility 90% Short stature 90% Thickened skin 90% Upslanted palpebral fissure 90% Abnormally straight spine 50% Blepharophimosis 50% Cubitus valgus 50% Scoliosis 50% Elbow dislocation 7.5% Strabismus 7.5% Microcornea 5% Abnormality of the carpal bones - Abnormality of the vertebral column - Autosomal dominant inheritance - Broad metacarpals - Broad thumb - Enlarged interphalangeal joints - Hallux valgus - Joint stiffness - Laryngeal stenosis - Pes cavus - Short metacarpal - Short metatarsal - Short palm - Short stepped shuffling gait - Short thumb - 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) Renal nutcracker syndrome ? 
 Renal nutcracker syndrome (NCS) is a condition that occurs when the left renal vein (the vein that carries blood purified by the left kidney) becomes compressed. The signs and symptoms of the condition can vary from person to person. Some affected people may be asymptomatic while others develop severe and persistent symptoms. When present, features of NCS may include blood in the urine (hematuria), orthostatic proteinuria, flank pain and/or abdominal pain. Some cases of mild NCS in children may be due to changes in body proportions associated with growth. Why NCS occurs or becomes symptomatic in adults is less clear. Treatment ranges from surveillance to surgical intervention and is based on the severity of symptoms and their expected reversibility when considering the affected person's age and stage of the syndrome.
What are the symptoms of Renal nutcracker syndrome ? 
 What are the signs and symptoms of renal nutcracker syndrome? The signs and symptoms of renal nutcracker syndrome and the disease severity can vary from person to person. Some affected people may be asymptomatic while others have severe and persistent symptoms. Symptoms are often aggravated by physical activity. When present, symptoms of the condition may include blood in the urine (hematuria), orthostatic proteinuria, flank pain and/or abdominal pain. Some people may also experience orthostatic intolerance, which is characterized by symptoms such as light-headedness, palpitations, poor concentration, fatigue, nausea, dizziness, headache, sweating, weakness and occasionally fainting when upright standing. Men who are affected by renal nutcracker syndrome may develop a varicocele. Affected women may have gynecological symptoms such as dyspareunia and dysmenorrhea (painful periods).
Is Renal nutcracker syndrome inherited ? 
 Is renal nutcracker syndrome inherited? Renal nutcracker syndrome is not inherited. Most cases occur sporadically in people with no family history of the condition. Although more than one family member may rarely be affected, this is thought to be a coincidence and not the result of a genetic predisposition.
How to diagnose Renal nutcracker syndrome ? 
 How is Renal nutcracker syndrome diagnosed? A diagnosis of renal nutcracker syndrome is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been ruled out. Additional testing can then be ordered to support the diagnosis. This may include urine tests, imaging studies of the kidneys (i.e. doppler ultrasonography, computed tomography angiography, magnetic resonance angiography, retrograde venography), and/or cystoscopy.
What are the treatments for Renal nutcracker syndrome ? 
 How might renal nutcracker syndrome be treated? Treatment of renal nutcracker syndrome is based on severity of symptoms and their expected reversibility when considering the affected person's age and stage of the syndrome. Adults with mild cases and affected children may be treated conservatively with regular surveillance. People younger than 18 years, specifically, are often observed for at least 2 years because as many as 75% will have complete resolution of symptoms without any significant intervention. ACE inhibitors may be effective in treating orthostatic proteinuria. In those with severe symptoms who do not respond to more conservative treatments, surgery is often recommended.
What are the symptoms of Familial erythrocytosis, 1 ? 
 What are the signs and symptoms of Familial erythrocytosis, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial erythrocytosis, 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of erythrocytes 90% Abnormality of the heme biosynthetic pathway 90% Epistaxis 90% Migraine 90% Respiratory insufficiency 90% Thrombophlebitis 90% Vertigo 90% Abdominal pain 50% Arthralgia 50% Pruritus 50% Abnormality of coagulation 7.5% Apnea 7.5% Cerebral ischemia 7.5% Autosomal dominant inheritance - Cerebral hemorrhage - Exertional dyspnea - Fatigue - Headache - Hypertension - Increased hematocrit - Increased hemoglobin - Increased red blood cell mass - Myocardial infarction - Peripheral thrombosis - Plethora - Splenomegaly - 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) Hereditary mucoepithelial dysplasia ? 
 Hereditary mucoepithelial dysplasia (HMD) is a condition that affects the skin, hair, mucosa (areas of the body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition.
What are the symptoms of Hereditary mucoepithelial dysplasia ? 
 What are the signs and symptoms of Hereditary mucoepithelial dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary mucoepithelial dysplasia. 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) Cataract 90% Corneal dystrophy 90% Fine hair 90% Furrowed tongue 90% Gingival overgrowth 90% Hyperkeratosis 90% Tracheoesophageal fistula 90% Abnormality of female internal genitalia 50% Nystagmus 50% Photophobia 50% Pulmonary fibrosis 50% Hematuria 7.5% Chronic diarrhea 5% Melena 5% Nail dysplasia 5% Nail dystrophy 5% Recurrent pneumonia 5% Alopecia - Autosomal dominant inheritance - Blindness - Chronic monilial nail infection - Chronic mucocutaneous candidiasis - Coarse hair - Congenital onset - Cor pulmonale - Corneal neovascularization - Eosinophilia - Esotropia - Fibrocystic lung disease - Keratoconjunctivitis - Opacification of the corneal stroma - 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.
What is (are) Charcot-Marie-Tooth disease type 2F ? 
 Charcot-Marie-Tooth disease type 2F (CMT2F) is a genetic disorder of the peripheral nerves. The subtypes of CMT type 2 (including type 2F) have similar features and are distinguished only by their disease-causing genes. Signs and symptoms usually begin between the ages of 5 and 25 and typically include slowly progressive weakness and atrophy of distal muscles in the feet and/or hands, usually associated with decreased tendon reflexes and mild or no sensory loss. Nerve conduction velocities are usually normal or near-normal. CMT2F is caused by mutations in the HSPB1 gene and is inherited in an autosomal dominant manner. Management may include occupational and physical therapy; special shoes; surgery as needed; mobility aids; and other supportive treatments.
What are the symptoms of Charcot-Marie-Tooth disease type 2F ? 
 What are the signs and symptoms of Charcot-Marie-Tooth disease type 2F? The subtypes of Charcot-Marie-Tooth type 2, including type 2F, have similar signs and symptoms. Affected individuals usually become symptomatic between the ages of 5 and 25, though onset can range from infancy to after the third decade of life. The most common first symptom is weakness of the feet and ankles, followed by slowly progressive weakness and atrophy of distal muscles in the feet and/or hands. Individuals often have decreased tendon reflexes and mild or no sensory loss. Adults with CMT2 often have bilateral foot drop, symmetric atrophy of muscles below the knee (stork leg appearance) and absent tendon reflexes in the legs. Mild sensory deficits of position, vibration, pain or temperature may occur in the feet, or sensation may be intact. Pain (especially in the feet) is reported by about 20%-40% of affected individuals. Other features that may be associated with CMT2 in a few individuals include hearing impairment; vocal cord or phrenic nerve involvement (which may result in difficulty with speech or breathing); restless legs; and sleep apnea. CMT2 is progressive over many years, but affected individuals often experience long periods without obvious progression. In some individuals, the condition may be so mild that it goes unrecognized. Affected individuals have a normal life span. The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2F. 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) Areflexia - Autosomal dominant inheritance - Chronic axonal neuropathy - Decreased motor nerve conduction velocity - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Fasciculations - Foot dorsiflexor weakness - Hyporeflexia - Muscle cramps - Pes cavus - Steppage gait - Ulnar claw - 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 Charcot-Marie-Tooth disease type 2F ? 
 What causes Charcot-Marie-Tooth disease type 2F? Charcot-Marie-Tooth disease type 2F (CMT2F) is caused by mutations in the HSPB1 gene. This gene provides instructions for making a protein (heat shock protein beta-1) which helps protect cells under adverse conditions. Heat shock proteins appear to be involved in activities such as cell movement, stabilizing the cell's framework, folding and stabilizing new proteins, repairing damaged proteins, and muscle contraction. Heat shock protein beta-1 is particularly abundant in nerve and muscle cells. In nerve cells, it helps to organize a network of threads that maintain the diameter of axons (neurofilaments), which are needed to transmit nerve impulses efficiently. It is unclear exactly how HSPB1 mutations lead to the axon abnormalities characteristic of CMT2F. Researchers suggest that mutations lead to an altered protein which clusters together and interferes with nerve cell function. Another possibility is that the altered protein disrupts the assembly of neurofilaments, which in turn may impair the transmission of nerve impulses.
Is Charcot-Marie-Tooth disease type 2F inherited ? 
 How is Charcot-Marie-Tooth disease type 2F inherited? Charcot-Marie-Tooth disease type 2F is inherited in an autosomal dominant manner. This means that only one mutated copy of the gene in each cell is sufficient to cause the condition. Most affected individuals inherit the mutated gene from an affected parent, but in some cases the mutation occurs for the first time in the affected individual (de novo mutation). When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated gene and have the condition.
How to diagnose Charcot-Marie-Tooth disease type 2F ? 
 Is genetic testing available for Charcot-Marie-Tooth disease type 2F? Yes. GeneTests lists the names of laboratories that are performing clincial genetic testing for Charcot-Marie-Tooth disease type 2F. To view the contact information for these laboratories, click here. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
What are the treatments for Charcot-Marie-Tooth disease type 2F ? 
 How might Charcot-Marie-Tooth disease type 2F be treated? Treatment for Charcot-Marie-Tooth disease type 2 mainly focuses on the specific symptoms present. Affected individuals are often managed by a team of various specialists that includes neurologists, physiatrists, orthopedic surgeons, and physical and occupational therapists. Depending on the individual's signs and symptoms, the following may be indicated: Special shoes, including those with good ankle support Ankle/foot orthoses (AFO) to correct foot drop and aid with walking Orthopedic surgery to correct severe pes cavus Forearm crutches or canes for stability (fewer than 5% of affected individuals need wheelchairs) Treatment of sleep apnea or restless legs Treatment of pain and depression as needed