Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Aicardi-Goutieres syndrome type 5 ? 
 What are the signs and symptoms of Aicardi-Goutieres syndrome type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome type 5. 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) Cognitive impairment 90% Holoprosencephaly 90% Hypertonia 90% Porencephaly 90% Cleft eyelid 50% Hemiplegia/hemiparesis 50% Microcephaly 7.5% Plagiocephaly 7.5% Ptosis 7.5% Seizures 7.5% Autosomal recessive inheritance - Basal ganglia calcification - Chilblain lesions - Feeding difficulties in infancy - Leukodystrophy - 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) Usher syndrome, type 2C ? 
 Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III.  The different types are distinguished by their severity and the age when signs and symptoms appear. All three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations.
What are the symptoms of Usher syndrome, type 2C ? 
 What are the signs and symptoms of Usher syndrome, type 2C? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 2C. 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 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.
Is Usher syndrome, type 2C inherited ? 
 How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition usually do not have any signs or symptoms. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected.
What is (are) Primary angiitis of the central nervous system ? 
 Primary angiitis of the central nervous system is a rare form of vasculitis (inflammation of blood vessels) affecting the blood vessels that nourish the brain, spinal cord and peripheral nerves. This condition can lead to narrowing and blockage of the blood vessels of the central nervous system which can eventually cause aneurysms, ischemia and/or hemmorrhage. The cause of this condition is unknown. Signs and symptoms of this condition may begin suddenly or develop over time. Some of the symptoms may incude headaches that do not go away, fever, rapid weight loss, confusion or forgetfulness, and general malaise. Treatment for this condition involves a course of immunosuppresive steroids.
What are the treatments for Primary angiitis of the central nervous system ? 
 How might primary angiitis of the central nervous system be treated?  The current treatment recommendation is to start with oral prednisone at a dose of 1 mg/kg per day and cyclophosphamide at a dose of 2 mg/kg per day. Most centers use prednisone and cyclophosphamide for 4-6 months to induce clinical remission, and then taper prednisone off. Patients generally stay on cyclophosphamide therapy between three and six months, depending on when remission occurs and if there are any potential side effects from cyclophosphamide. Once cyclophosphamide is discontinued, it should be replaced with a less toxic medication for an additional six to twelve months of maintenance therapy. Some doctors switch from cyclophosphamide to azathioprine (2 mg/kg) or mycophenolate mofetil. Methotrexate can also be used, but may be limited by its difficulty to cross the blood brain barrier. There is limited data on how long the maintenance therapy lasts so the decision on the duration of the therapy should be individualized, based upon how the patient responds to therapy.
What are the symptoms of Santos Mateus Leal syndrome ? 
 What are the signs and symptoms of Santos Mateus Leal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Santos Mateus Leal 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) Aganglionic megacolon 90% Foot polydactyly 90% Cognitive impairment 50% Hypertelorism 50% Postaxial hand polydactyly 50% Renal hypoplasia/aplasia 50% Sensorineural hearing impairment 50% Autosomal recessive inheritance - Hand polydactyly - Hearing impairment - Unilateral renal agenesis - 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) Usher syndrome, type 1C ? 
 Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III.  The different types are distinguished by their severity and the age when signs and symptoms appear. All three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations.
What are the symptoms of Usher syndrome, type 1C ? 
 What are the signs and symptoms of Usher syndrome, type 1C? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 1C. 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 sensorineural hearing impairment - Rod-cone dystrophy - Vestibular hypofunction - 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 Usher syndrome, type 1C inherited ? 
 How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition usually do not have any signs or symptoms. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected.
What is (are) Bilateral generalized polymicrogyria ? 
 Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person.
What are the symptoms of Anemia sideroblastic and spinocerebellar ataxia ? 
 What are the signs and symptoms of Anemia sideroblastic and spinocerebellar ataxia? The Human Phenotype Ontology provides the following list of signs and symptoms for Anemia sideroblastic and spinocerebellar ataxia. 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) Incoordination 90% Neurological speech impairment 90% Nystagmus 90% Abnormality of movement 50% Cognitive impairment 50% Hyperreflexia 50% Intrauterine growth retardation 7.5% Muscular hypotonia 7.5% Scoliosis 7.5% Strabismus 7.5% Abnormality of metabolism/homeostasis - Babinski sign - Clonus - Dysarthria - Dysdiadochokinesis - Dysmetria - Hypochromic microcytic anemia - Intention tremor - Juvenile onset - Nonprogressive cerebellar ataxia - Sideroblastic anemia - 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 symptoms of Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ? 
 What are the signs and symptoms of Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. 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 5% Adult onset - Areflexia - Atrophy/Degeneration involving the spinal cord - Autosomal recessive inheritance - Cognitive impairment - Decreased activity of cytochrome C oxidase in muscle tissue - Depression - Dilated cardiomyopathy - Dysarthria - Gastroparesis - Hyporeflexia - Impaired distal proprioception - Impaired distal vibration sensation - Increased serum lactate - Increased variability in muscle fiber diameter - Intestinal pseudo-obstruction - Migraine - Mildly elevated creatine phosphokinase - Multiple mitochondrial DNA deletions - Muscle fiber necrosis - Myoclonus - Nystagmus - Phenotypic variability - Positive Romberg sign - Progressive external ophthalmoplegia - Progressive gait ataxia - Proximal muscle weakness - Ptosis - Ragged-red muscle fibers - Seizures - Sensorineural hearing impairment - Sensory ataxic neuropathy - Sensory axonal neuropathy - Subsarcolemmal accumulations of abnormally shaped mitochondria - Vestibular dysfunction - 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) Subacute cerebellar degeneration ? 
 Subacute cerebellar degeneration is the breakdown of the area of the brain that controls muscle coordination and balance (the cerebellum). Less commonly, the area connecting the spinal cord to the brain is involved. Subacute cerebellar degeneration may occur in association with a cancer (paraneoplastic cerebellar degeneration) or lack of thiamine (alcoholic or nutritional cerebellar degeneration). Signs and symptoms may include ataxia, speech and swallowing problems, dementia, vision problems, and vertigo.
What are the symptoms of Subacute cerebellar degeneration ? 
 What are the signs and symptoms of subacute cerebellar degeneration? Signs and symptoms of subacute cerebellar degeneration, include ataxia, speech and swallowing problems, dementia (in about half of people with this condition), and difficulty walking. People with subacute cerebellar degeneration due to thiamine deficiency may also experience quick involuntary movements of the eyeball (nystagmus), double-vision, dizziness, and paralysis of the eye muscles. In paraneoplastic cerebellar degeneration, dizziness, nausea, and vomiting may precede the neurological symptoms. Paraneoplastic cerebellar degeneration may occur in association with Lambert Eaton myasthenic syndrome or encephalomyelitis.
What causes Subacute cerebellar degeneration ? 
 What causes subacute cerebellar degeneration? Subacute cerebellar degeneration may occur when the body's immune system attacks healthy tissue, either for unknown reasons or as an abnormal reaction to an underlying cancer. These cases are referred to as paraneoplastic cerebellar degeneration. Subacute cerebellar degeneration may also occur due to thiamine deficiency. Causes of thiamin deficiency include alcoholism, recurrent vomiting, gastric surgery, and diets poor in this B vitamin. These cases are referred to as alcoholic/nutritional cerebellar degeneration. For further information pertaining to the neurological effects of severe thiamine deficiency, see the following link to the Wernicke-Korsakoff syndrome resource page. http://rarediseases.info.nih.gov/gard/6843/wernicke-korsakoff-syndrome/Resources/1
What is (are) Tietz syndrome ? 
 Tietz syndrome is a rare condition that affects the development of melanocytes, the cells in our body that produce and contain melanin (the pigment that gives color to skin, hair, and eyes). Signs and symptoms of this condition are present from birth and usually include sensorineural hearing loss, fair skin, and light-colored hair. It is caused by changes (mutations) in the MITF gene and inherited in an autosomal dominant manner. The goal of treatment is to improve hearing; cochlear implantation may be considered.
What are the symptoms of Tietz syndrome ? 
 What are the signs and symptoms of Tietz syndrome? The signs and symptoms of Tietz syndrome are usually present at birth and may include: Severe, bilateral (both ears) sensorineural hearing loss Fair skin Light-colored hair Blue eyes The Human Phenotype Ontology provides the following list of signs and symptoms for Tietz 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 anterior chamber 90% Aplasia/Hypoplasia of the eyebrow 90% Generalized hypopigmentation 90% Hypopigmentation of hair 90% Autosomal dominant inheritance - Bilateral sensorineural hearing impairment - Blue irides - Congenital sensorineural hearing impairment - Hypopigmentation of the fundus - White eyebrow - White eyelashes - 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 Tietz syndrome ? 
 How is Tietz syndrome diagnosed? A diagnosis of Tietz syndrome is suspected in people with severe, bilateral (both ears) sensorineural hearing loss; fair skin; and light-colored hair. Identification of a change (mutation) in the MITF gene also supports this diagnosis. Diagnosing Tietz syndrome can be complicated since there are several different genetic conditions that can cause deafness and hypopigmentation, some of which are also caused by mutations in the MITF gene. It is, therefore, important for people with suspected Tietz syndrome to be evaluated by a healthcare provider who specializes in genetics.
What are the symptoms of Split hand urinary anomalies spina bifida ? 
 What are the signs and symptoms of Split hand urinary anomalies spina bifida? The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand urinary anomalies spina bifida. 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 upper urinary tract 90% Finger syndactyly 90% Abnormality of the antitragus 50% Abnormality of the palate 50% Aplasia/Hypoplasia of the nipples 50% Aplasia/Hypoplasia of the radius 50% Congenital diaphragmatic hernia 50% Edema 50% Low-set, posteriorly rotated ears 50% Myelomeningocele 50% Patent ductus arteriosus 50% Proximal placement of thumb 50% Sloping forehead 50% Spina bifida occulta 50% Split foot 50% Split hand 50% Thickened skin 50% Toe syndactyly 50% Upslanted palpebral fissure 50% Asymmetric growth 7.5% Hydrocephalus 7.5% Talipes 7.5% Tracheoesophageal fistula 7.5% Webbed neck 7.5% Abnormality of the diaphragm - Autosomal dominant inheritance - Cutaneous finger syndactyly - Hydronephrosis - Thoracolumbar scoliosis - Ureteral atresia - 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.