Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Mucopolysaccharidosis type VI ? 
 What are the signs and symptoms of Mucopolysaccharidosis type VI? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type VI. 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 nasal alae 90% Coarse facial features 90% Limitation of joint mobility 90% Mucopolysacchariduria 90% Opacification of the corneal stroma 90% Otitis media 90% Short stature 90% Sinusitis 90% Thick lower lip vermilion 90% Abnormality of the ribs 50% Genu valgum 50% Hearing impairment 50% Hernia 50% Kyphosis 50% Short neck 50% Splenomegaly 50% Abnormality of the heart valves 7.5% Abnormality of the tongue 7.5% Cognitive impairment 7.5% Visual impairment 7.5% Anterior wedging of L1 - Anterior wedging of L2 - Autosomal recessive inheritance - Broad ribs - Cardiomyopathy - Cervical myelopathy - Depressed nasal bridge - Dermatan sulfate excretion in urine - Disproportionate short-trunk short stature - Dolichocephaly - Dysostosis multiplex - Epiphyseal dysplasia - Flared iliac wings - Glaucoma - Hepatomegaly - Hip dysplasia - Hirsutism - Hydrocephalus - Hypoplasia of the odontoid process - Hypoplastic acetabulae - Hypoplastic iliac wing - Inguinal hernia - Joint stiffness - Lumbar hyperlordosis - Macrocephaly - Macroglossia - Metaphyseal irregularity - Metaphyseal widening - Ovoid vertebral bodies - Prominent sternum - Recurrent upper respiratory tract infections - Split hand - Umbilical hernia - 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) Wolman disease ? 
 Wolman disease is a type of lysosomal storage disorder. It is an inherited condition that causes a buildup of lipids (fats) in body organs and calcium deposits in the adrenal glands. Common symptoms in infants include enlarged liver and spleen, poor weight gain, low muscle tone, jaundice, vomiting, diarrhea, developmental delay, anemia, and poor absorption of nutrients from food. Wolman disease is caused by mutations in the LIPA gene. It is inherited in an autosomal recessive manner. The condition is severe and life-threatening, however new therapies, such as bone marrow transplantation, have shown promise in improving the outlook of children with this disease. Enzyme replacement therapy is also being developed.
What are the symptoms of Wolman disease ? 
 What are the signs and symptoms of Wolman disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Wolman 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% Cognitive impairment 90% Hepatic failure 90% Hepatomegaly 90% Hyperkeratosis 90% Malabsorption 90% Nausea and vomiting 90% Anemia 50% Ascites 50% Atherosclerosis 50% Congenital hepatic fibrosis 50% Multiple lipomas 50% Splenomegaly 50% Weight loss 50% Abnormality of temperature regulation 7.5% Abnormality of the adrenal glands 7.5% Cirrhosis 7.5% Esophageal varix 7.5% Pruritus 7.5% Reduced consciousness/confusion 7.5% Adrenal calcification - Autosomal recessive inheritance - Bone-marrow foam cells - Death in infancy - Diarrhea - Failure to thrive - Hepatic fibrosis - Hepatosplenomegaly - Hypercholesterolemia - Protuberant abdomen - Pulmonary hypertension - Steatorrhea - Vacuolated lymphocytes - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the treatments for Wolman disease ? 
 How can I find additional comprehensive information on the treatment of Wolman disease? You can find relevant journal articles on Wolman syndrome and its treatment through a service called PubMed, a searchable database of medical literature. Information on finding an article and its title, authors, and publishing details is listed here. Some articles are available as a complete document, while information on other studies is available as a summary abstract. To obtain the full article, contact a medical/university library (or your local library for interlibrary loan), or order it online using the following link. Using "Wolman syndrome[ti] treatment" as your search term should locate articles. To narrow your search, click on the Limits tab under the search box and specify your criteria for locating more relevant articles. Click here to view a search. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed   The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.
What is (are) Idiopathic neutropenia ? 
 Idiopathic neutropenia is an acquired form of severe chronic neutropenia whose cause is unknown. Neutropenia is a blood condition that causes a reduced number or complete absence of neutrophils, a type of white blood cell that is responsible for much of the body's protection against infection. Symptoms include fever, moth sores, and other types of infections. Neutropenia idiopathic may occur in children and adults. Frequency and severity of infections appear to be directly related to neutrophil count; while clinical problems in individual patients may vary, in general, those patients with more severe neutropenia have more frequent infections. Most patients respond well to granulocyte-colony stimulating factor (G-CSF). Long-term treatment is usually required.
What are the symptoms of Idiopathic neutropenia ? 
 What are the signs and symptoms of Idiopathic neutropenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic neutropenia. 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) Acute myeloid leukemia 7.5% Autosomal dominant inheritance - Neutropenia - 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 Ectrodactyly and ectodermal dysplasia without cleft lip/palate ? 
 What are the signs and symptoms of Ectrodactyly and ectodermal dysplasia without cleft lip/palate? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectrodactyly and ectodermal dysplasia without cleft lip/palate. 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 teeth - Autosomal dominant inheritance - Ectodermal dysplasia - Hypotrichosis - Split foot - Split hand - 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 Cleidorhizomelic syndrome ? 
 What are the signs and symptoms of Cleidorhizomelic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleidorhizomelic 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 clavicle 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Single transverse palmar crease 50% Autosomal dominant inheritance - Rhizomelia - Short middle phalanx of the 5th finger - 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 Spermatogenesis arrest ? 
 What are the signs and symptoms of Spermatogenesis arrest? The Human Phenotype Ontology provides the following list of signs and symptoms for Spermatogenesis arrest. 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 metabolism/homeostasis - Autosomal dominant inheritance - Autosomal recessive inheritance - Azoospermia - Recurrent spontaneous abortion - 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 IVIC syndrome ? 
 What are the signs and symptoms of IVIC syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for IVIC 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) Hearing impairment 90% Limitation of joint mobility 90% Short stature 90% Strabismus 90% Abnormal dermatoglyphics 50% Aplasia/Hypoplasia of the thumb 50% Radioulnar synostosis 50% Scoliosis 50% Synostosis of carpal bones 50% Triphalangeal thumb 50% Abnormality of the clavicle 7.5% Arrhythmia 7.5% Leukocytosis 7.5% Preaxial hand polydactyly 7.5% Thrombocytopenia 7.5% Urogenital fistula 7.5% Absent thumb - Anal atresia - Autosomal dominant inheritance - Carpal bone hypoplasia - Carpal synostosis - External ophthalmoplegia - Hypoplasia of deltoid muscle - Hypoplasia of the radius - Intestinal malrotation - Limited elbow movement - Limited interphalangeal movement - Limited wrist movement - Pectoralis major hypoplasia - Phenotypic variability - Rectovaginal fistula - Short 1st metacarpal - Small thenar eminence - 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) Wandering spleen ? 
 Wandering spleen is a rare condition that occurs when the spleen lacks one or more of the ligments that hold the spleen in its normal position in the upper left abdomen. If a person is born with this condition it is referred to as congenital wandering spleen. The condition is not hereditary. Acquired wandering spleen may occur during adulthood due to injuries or other underlying conditions that may weaken the ligaments that hold the spleen. Symptoms of wandering spleen may include englargement of the spleen (splenomegaly), abdominal pain, intestinal obstruction, nausea, vomiting, fever, and a lump in the abdomen or the pelvis. Some individuals with this condition do not have symptoms. Treatment for this condition involes removal of the spleen (splenectomy).
What are the treatments for Wandering spleen ? 
 How might wandering spleen be treated? Because wandering spleen can cause life-threatening complications (such as splenic infarction, portal hypertension, and hemorrhage), surgery to remove the spleen is the preferred treatment method for patients. Laparoscopic splenectomy is the typical method used for spleen removal. Splenopexy (surgically fixing the floating spleen) is associated with a high risk of recurrence and complications and is not the preferred treatment choice.
What are the symptoms of Ichthyosis hystrix, Curth Macklin type ? 
 What are the signs and symptoms of Ichthyosis hystrix, Curth Macklin type? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis hystrix, Curth Macklin 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) Hyperkeratosis 90% Ichthyosis 90% Skin ulcer 90% Abnormality of the fingernails 50% Flexion contracture 50% Gangrene 7.5% Abnormality of metabolism/homeostasis - Autosomal dominant 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 is (are) Silicosis ? 
 Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20 years) to low amounts of silica dust. Simple chronic silicosis may cause people to have difficulty breathing.  Accelerated silicosis occurs after 5 to 15 years of exposure of higher levels of silica. Swelling of the lungs and other symptoms occur faster in this type of silicosis than in the simple chronic form.  Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica. The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months.  People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition.
What are the symptoms of Silicosis ? 
 What are the symptoms of silicosis? Symptoms of silicosis may include:  Chronic cough Shortness of breath with exercise, usually in patients who have progressive massive fibrosis Weakness  Other symptoms of this disease, especially in acute silicosis, may also include: Cough Fever Severe breathing difficulty Weight loss Night Sweats Chest pains
What causes Silicosis ? 
 What causes silicosis? Silicosis is caused by breathing in tiny bits of silica dust. When people breathe silica dust, they inhale tiny particles of silica that has crystallized. This silica dust can cause fluid buildup and scar tissue in the lungs that cuts down the ability to breathe.
What is (are) Aicardi-Goutieres syndrome type 4 ? 
 Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint stiffness. Symptoms usually progress over several months before the disease course stabilizes. There are six different types of Aicardi-Goutieres syndrome, which are distinguished by the gene that causes the condition: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR genes. Most cases are inherited in an autosomal recessive pattern, although rare autosomal dominant cases have been reported. Treatment is symptomatic and supportive.
What are the symptoms of Aicardi-Goutieres syndrome type 4 ? 
 What are the signs and symptoms of Aicardi-Goutieres syndrome type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome type 4. 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 - Cerebellar atrophy - Cerebral atrophy - Cerebral calcification - Convex nasal ridge - CSF lymphocytic pleiocytosis - Death in childhood - Dystonia - Elevated hepatic transaminases - Feeding difficulties - Hepatomegaly - Hepatosplenomegaly - Hydrocephalus - Infantile onset - Intrauterine growth retardation - Leukodystrophy - Low-set ears - Pancytopenia - Progressive microcephaly - Severe global developmental delay - Spasticity - Splenomegaly - Thrombocytopenia - 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 is (are) Ulcerative proctitis ? 
 Ulcerative proctitis is a type of ulcerative colitis that affects the rectum. The symptoms of this form of proctitis may include bleeding from the rectum, the need to go to the bathroom frequently, tenesmus, diarrhea or constipation, and rectal pain. People with ulcerative proctitis tend to have episodes when the symptoms worsen and periods without symptoms, although the course of the disease varies among affected individuals. Treatment involves applying 5-aminosalicylic acid (5-ASA) or steroid creams to the rectum. In some cases, an oral version of 5-ASA is used to prevent episodes.