Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Lattice corneal dystrophy type 1 ? 
 What are the signs and symptoms of Lattice corneal dystrophy type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Lattice corneal dystrophy 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) Autosomal dominant inheritance - Lattice corneal dystrophy - Progressive visual loss - Recurrent corneal erosions - 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) Mowat-Wilson syndrome ? 
 Mowat-Wilson syndrome (MWS) is a rare genetic disorder that affects many systems of the body. The main features include moderate to severe intellectual disability, distinctive facial features, and epilepsy. Other features may include Hirschsprung disease; heart (cardiac) defects; kidney (renal) abnormalities; genital abnormalities; eye abnormalities; and short stature. It is caused by a mutation or deletion in the ZEB2 gene, which usually occurs for the first time (sporadically) in affected people. Treatment typically focuses on the specific symptoms in each person.
What causes Mowat-Wilson syndrome ? 
 What causes Mowat-Wilson syndrome? Mowat-Wilson syndrome is caused by mutations in the ZEB2 (also known as ZFHX1B or SIP-1) gene. This gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. It is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Researchers believe that ZEB2 protein is involved in the development of tissues that give rise to the nervous system, digestive tract, facial features, heart, and other organs. Mowat-Wilson syndrome almost always results from the loss of one working copy of the ZEB2 gene in each cell. In some cases, the entire gene is deleted. In other cases, mutations within the gene lead to the production of an abnormally short, nonfunctional version of the ZEB2 protein. A shortage of this protein disrupts the normal development of many organs and tissues, which causes the varied signs and symptoms of Mowat-Wilson syndrome.
Is Mowat-Wilson syndrome inherited ? 
 How is Mowat-Wilson inherited? Mowat-Wilson syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of Mowat-Wilson syndrome result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.
What is (are) Neuroblastoma ? 
 Neuroblastoma is a tumor that develops from a nerve in a child, usually before the age of 5.  It occurs in the abdomen near the adrenal glands, but it can also occur in other parts of the body.  It is considered an aggressive tumor because it often spreads to other parts of the body (metastasizes).  The symptoms of a neuroblastoma may include a lump in the abdomen, pain, diarrhea, or generally feeling unwell.  It affects one out of 100,000 children.  The exact cause of this tumor is not yet known.  Neuroblastoma may be diagnosed by physical examination; specific blood tests; imaging tests such as x-rays, magnetic resonance imaging (MRI), or computed tomography (CT) scans; and a biopsy.  Treatment depends on the size and location of the tumor within the body, as well as the childs age. Surgery is often the first step of treatment, and may be followed by chemotherapy, radiation therapy, or a stem cell transplant in more severe cases.
What are the symptoms of Neuroblastoma ? 
 What are the signs and symptoms of Neuroblastoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuroblastoma. 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) Neoplasm of the nervous system 90% Abdominal pain - Abnormality of the thorax - Anemia - Ataxia - Autosomal dominant inheritance - Bone pain - Diarrhea - Elevated urinary dopamine - Elevated urinary homovanillic acid - Elevated urinary vanillylmandelic acid - Failure to thrive - Fever - Ganglioneuroblastoma - Ganglioneuroma - Heterogeneous - Horner syndrome - Hypertension - Incomplete penetrance - Myoclonus - Neuroblastoma - Opsoclonus - Skin nodule - Spinal cord compression - Sporadic - Weight loss - 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 SeSAME syndrome ? 
 What are the signs and symptoms of SeSAME syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for SeSAME 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) Short stature 7.5% Chronic axonal neuropathy 5% Peripheral hypomyelination 5% Autosomal recessive inheritance - Cerebellar atrophy - Delayed speech and language development - Dysdiadochokinesis - Enuresis - Hyperaldosteronism - Hypocalciuria - Hypokalemia - Hypokalemic metabolic alkalosis - Hypomagnesemia - Increased circulating renin level - Infantile onset - Intellectual disability - Intention tremor - Muscular hypotonia - Polydipsia - Polyuria - Renal potassium wasting - Renal salt wasting - Renal sodium wasting - Salt craving - Seizures - Sensorineural hearing impairment - 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) Congenital disorders of glycosylation ? 
 Congenital disorders of glycosylation (CDG) are a group of inherited metabolic disorders that affect a process called glycosylation. Glycosylation is the complex process by which all human cells build long sugar chains that are attached to proteins, which are called glycoproteins. There are many steps involved in this process, and each step is triggered by a type of protein called an enzyme. Individuals with a CDG are missing one of the enzymes that is required for glycosylation. The type of CDG that a person has depends on which enzyme is missing. Currently, there are 19 identified types of CDG. CDG type IA is the most common form. The symptoms of CDG vary widely among affected individuals. Some people have severe developmental delay, failure to thrive, and multiple organ problems, while others have diarrhea, low blood sugar (hypoglycemia), liver problems, and normal developmental potential.
What are the symptoms of Congenital disorders of glycosylation ? 
 What are the signs and symptoms of Congenital disorders of glycosylation? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital disorders of glycosylation. 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 adipose tissue 90% Abnormality of coagulation 90% Abnormality of immune system physiology 90% Abnormality of retinal pigmentation 90% Aplasia/Hypoplasia of the cerebellum 90% Aplasia/Hypoplasia of the nipples 90% Cerebral cortical atrophy 90% Cognitive impairment 90% Elevated hepatic transaminases 90% Strabismus 90% Abnormality of the genital system 50% Abnormality of the pericardium 50% Broad forehead 50% Hypertrophic cardiomyopathy 50% Hypoglycemia 50% Seizures 50% Abnormality of the intestine 7.5% Ascites 7.5% Nephropathy 7.5% Peripheral neuropathy 7.5% 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 1E ? 
 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 1E ? 
 What are the signs and symptoms of Usher syndrome, type 1E? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 1E. 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 areflexia - 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 1E 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) Microcystic adnexal carcinoma ? 
 Microcystic adnexal carcinoma is a rare tumor of the skin that most often develops in the head and neck region, particularly in the middle of the face, though it may occur in the skin of other parts of the body as well.  The average age of diagnosis is 56.  This tumor is often first noticed as a bump or yellowish spot in the skin.  Though microcystic adnexal carcinomas frequently grow into and disturb nearby tissues and is therefore considered an invasive cancer, this type of tumor rarely spreads to more distant parts of the body (metastasizes). The main treatment for microcystic adnexal carcinoma is Mohs micrographic surgery, which is thought to improve the chances that all of the tumor cells are removed during surgery.
What are the symptoms of Microcystic adnexal carcinoma ? 
 What are the symptoms of microcystic adnexal carcinoma? Microcystic adnexal carcinoma appears as a smooth bump or patch that is slightly raised from the surrounding skin.  It may be flesh-colored or yellowish, and it increases in size over time.  A microcystic adnexal carcinoma may grow into nerves nearby, which can cause discomfort, numbness, tingling (paresthesia), burning, or itching.
What are the treatments for Microcystic adnexal carcinoma ? 
 Is radiation therapy a recommended treatment for microcystic adnexal carcinoma? Unfortunately, because microcystic adnexal carcinoma is a rare cancer, there is currently not enough information to determine if radiation therapy is an effective treatment for this disease.  There are no guidelines for the use of radiation therapy as treatment for microcystic adnexal carcinoma, and little is known about the dose of radiation that might be needed to be effective.  Two articles studying a total of 17 patients receiving radiation therapy for microcystic adnexal carcinoma have suggested that there may be a benefit of radiation therapy for decreasing the chances of the tumor regrowing (recurrence), and the authors suggest that this treatment could be considered if there is evidence that cancer cells remain after surgery, or in situations where additional surgery cannot be done.  However, another article raises concerns about the use of radiation therapy considering the small number of patients studied, the report of one patient's disease potentially worsening after radiation therapy, and the belief that exposure to radiation may be a risk factor for the initial development of this tumor.
What are the symptoms of Cataract congenital Volkmann type ? 
 What are the signs and symptoms of Cataract congenital Volkmann type? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract congenital Volkmann 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) Nuclear cataract 41/41 Autosomal dominant inheritance - Congenital cataract - Progressive visual loss - 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 Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert ? 
 What are the signs and symptoms of Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert? The Human Phenotype Ontology provides the following list of signs and symptoms for Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert. 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) Hypertension 5% Aplasia/Hypoplasia involving the central nervous system - Ataxia - Autosomal recessive inheritance - Brain atrophy - Broad-based gait - Cutis marmorata - Dementia - Dysarthria - Emotional lability - Hemianopia - Migraine - Pseudobulbar signs - Seizures - Telangiectases producing 'marbled' skin - 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 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B ? 
 What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type B? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type B. 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) Segmental peripheral demyelination 5% Areflexia - Autosomal dominant inheritance - Axonal degeneration - Decreased number of peripheral myelinated nerve fibers - Distal sensory impairment - Hyporeflexia - Juvenile onset - Onion bulb formation - Pes cavus - Segmental peripheral demyelination/remyelination - 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 Genu valgum, st Helena familial ? 
 What are the signs and symptoms of Genu valgum, st Helena familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Genu valgum, st Helena familial. 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 dominant inheritance - Genu valgum - 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) Sprengel deformity ? 
 Sprengel deformity is a congenital condition characterized by abnormal development and elevation of the shoulder blade (scapula). Severity can range considerably from being almost invisible when covered with clothes, to the shoulder being elevated over 5 centimeters, with neck webbing. Signs and symptoms may include a lump in the back of the base of the neck and limited movement in the shoulder or arm. The condition may also be associated with other skeletal (bone or cartilage) or muscular abnormalities. Sprengel deformity typically occurs sporadically for no apparent reason but autosomal dominant inheritance has been reported. It is caused by an interruption of normal development and movement of the scapula during early fetal growth (probably between the 9th and 12th weeks of gestation). Treatment often includes physical therapy, but severe cases may require surgery to improve cosmetic appearance and scapular function.