Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Dystonia 16 ? 
 What are the signs and symptoms of Dystonia 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 16. 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 5% Abnormal pyramidal signs - Autosomal recessive inheritance - Bradykinesia - Delayed speech and language development - Dysarthria - Dysphagia - Gait disturbance - Hyperreflexia - Involuntary movements - Laryngeal dystonia - Limb dystonia - Lower limb pain - Morphological abnormality of the pyramidal tract - Motor delay - Parkinsonism - Postural tremor - Progressive - Retrocollis - 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 Frontofacionasal dysplasia ? 
 What are the signs and symptoms of Frontofacionasal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontofacionasal 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) Aplasia/Hypoplasia involving the nose 90% Blepharophimosis 90% Broad forehead 90% Cleft eyelid 90% Depressed nasal bridge 90% Depressed nasal ridge 90% Facial cleft 90% Hypertelorism 90% Malar flattening 90% Non-midline cleft lip 90% Ptosis 90% Short nose 90% Short stature 90% Telecanthus 90% Abnormality of calvarial morphology 50% Abnormality of the eyelashes 50% Abnormality of the sense of smell 50% Aplasia/Hypoplasia of the eyebrow 50% Cleft palate 50% Encephalocele 50% Epibulbar dermoid 50% Facial asymmetry 50% Iris coloboma 50% Midline defect of the nose 50% Preauricular skin tag 50% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cataract 7.5% Choanal atresia 7.5% Microcornea 7.5% Sacrococcygeal pilonidal abnormality 7.5% Absent inner eyelashes - Ankyloblepharon - Autosomal recessive inheritance - Bifid nose - Bifid uvula - Brachycephaly - Cranium bifidum occultum - Frontal cutaneous lipoma - Hypoplasia of midface - Hypoplasia of the frontal bone - Microphthalmia - Oral cleft - S-shaped palpebral fissures - Underdeveloped nasal alae - 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) Ataxia telangiectasia ? 
 Ataxia telangiectasia (A-T) is rare condition that affects the nervous system, the immune system, and many other parts of the body. Signs and symptoms of the condition usually begin in early childhood, often before age 5. The condition is typically characterized by cerebellar ataxia (uncoordinated muscle movements), oculomotor apraxia, telangiectasias, choreoathetosis (uncontrollable movements of the limbs), a weakened immune system with frequent infections, and an increased risk of cancers such as leukemia and lymphoma. A-T is caused by changes (mutations) in the ATM gene and is inherited in an autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person.
What are the symptoms of Carney triad ? 
 What are the signs and symptoms of Carney triad? The Human Phenotype Ontology provides the following list of signs and symptoms for Carney triad. 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% Diarrhea 90% Gastrointestinal hemorrhage 90% Nausea and vomiting 90% Neoplasm of the lung 90% Neoplasm of the stomach 90% Neuroendocrine neoplasm 90% Sarcoma 90% Abnormality of the liver 50% Abnormality of the mediastinum 50% Ascites 50% Hypercortisolism 50% Anemia 7.5% Anorexia 7.5% Arrhythmia 7.5% Hypertension 7.5% Lymphadenopathy 7.5% Migraine 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 are the symptoms of Meckel syndrome type 2 ? 
 What are the signs and symptoms of Meckel syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Meckel syndrome type 2. 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) Dandy-Walker malformation 5% Microphthalmia 5% Anencephaly - Autosomal recessive inheritance - Bile duct proliferation - Bowing of the long bones - Cleft palate - Encephalocele - Intrauterine growth retardation - Meningocele - Polydactyly - Postaxial hand polydactyly - Renal cyst - 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 Oculomaxillofacial dysostosis ? 
 What are the signs and symptoms of Oculomaxillofacial dysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculomaxillofacial dysostosis. 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 eyelashes 50% Abnormality of the teeth 50% Aplasia/Hypoplasia of the eyebrow 50% Cleft palate 50% Facial cleft 50% Median cleft lip 50% Opacification of the corneal stroma 50% Short stature 50% Underdeveloped nasal alae 50% Upslanted palpebral fissure 50% Wide nasal bridge 50% Abnormality of the humerus 7.5% Adducted thumb 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Brachydactyly syndrome 7.5% Camptodactyly of finger 7.5% Cognitive impairment 7.5% Coloboma 5% Deep palmar crease 5% Abnormality of the skeletal system - Autosomal recessive inheritance - Cleft upper lip - 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) Disseminated peritoneal leiomyomatosis ? 
 Disseminated peritoneal leiomyomatosis (DPL) is a rare condition which is characterized by nodules or small lumps of smooth muscle cells located on the peritoneum (lining of the abdominal wall) and abdominal organs.The condition is usually benign (noncancerous) but in rare cases has become cancerous. Although it can be seen in post-menopausal women and very rarely in men, DPL occurs most often in women of childbearing age. Most women with DPL are pregnant, taking the birth control pill, or have uterine leioyomas or estrogen-secreting tumors. Some people with DPL have no signs or symptoms of the condition. When present, symptoms may include abdominal and pelvic pain; rectal or vaginal bleeding; and less commonly constipation. The cause of DPL is unknown but may be linked to hormonal and genetic factors. Some cases of DPL resolve when hormone levels are returned to normal. However, surgery may be suggested based on the size and location of the tumor.
What are the symptoms of Disseminated peritoneal leiomyomatosis ? 
 What are the signs and symptoms of disseminated peritoneal leiomyomatosis (DPL)? Disseminated peritoneal leiomyomatosis (DPL) often does not produce any symptoms. When symptoms do occur, they may include: Abdominal and pelvic pain which is often associated with abnormal menstrual bleeding (dysmenorrhia) Rectal bleeding Abnormally heavy bleeding during menstruation (menorrhagia) Constipation Intestinal obstruction DPL may be discovered incidentally during a physical exam when masses may be felt in the abdomen. Since DPL usually does not produce any symptoms, the condition may also be unexpectedly found during a cesarean section (C-section) or abdominal surgery of another reason.
What causes Disseminated peritoneal leiomyomatosis ? 
 What causes disseminated peritoneal leiomyomatosis (DPL)? The cause of disseminated peritoneal leiomyomatosis (DPL) is unknown, but medical researchers believe it is influenced by both hormonal and genetic factors. Not all cases are related to hormone levels, as some cases have occurred in men and in post-menopausal women not receiving hormone replacement therapy. DPL is often associated with uterine leiomyomas but the connection is unclear. Most cases occur sporadically in people with no family history of the condition; however, more than one family member can be affected. Although this suggests that genetic factors may play a role in the development of DPL in some families, researchers have not identified any specific gene changes known to cause the condition.The cause of the condition is considered multifactorial .
How to diagnose Disseminated peritoneal leiomyomatosis ? 
 How is disseminated peritoneal leiomyomatosis (DPL) diagnosed? An ultrasound may reveal the presence of nodules (lumps) which may indicate disseminated peritoneal leiomyomatosis (DPL). However, DPL can only be confirmed by a biopsy of the nodule. The nodules should contain smooth muscle cells with no atypia (no abnormal structure) or necrosis (dead cells). The cells usually have both progesterone and estrogen receptors, but this is not always the case. The cells usually have a low mitotic index (meaning they are not dividing at a high rate).
What are the treatments for Disseminated peritoneal leiomyomatosis ? 
 How might disseminated peritoneal leiomyomatosis (DPL) be treated? Presently there are no treatment guidelines for disseminated peritoneal leiomyomatosis (DPL). DPL is considered a benign condition and some cases of DPL resolve after the baby is delivered (if pregnant), hormone treatment is stopped (including both birth control pill and hormone replacement therapy), or a hormone producing tumor is removed. However, surgery may be suggested based on the size and location of the tumor.
What are the symptoms of Hyde Forster Mccarthy Berry syndrome ? 
 What are the signs and symptoms of Hyde Forster Mccarthy Berry syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyde Forster Mccarthy Berry 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) Cognitive impairment 90% Plagiocephaly 90% Abnormality of movement 50% Brachycephaly - Coarse facial features - Frontal bossing - Intellectual disability, moderate - Prominent forehead - X-linked 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 Diffuse cutaneous systemic sclerosis ? 
 What are the signs and symptoms of Diffuse cutaneous systemic sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse cutaneous systemic sclerosis. 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) Acrocyanosis 90% Autoimmunity 90% Dry skin 90% Pulmonary infiltrates 90% Respiratory insufficiency 90% Arthralgia 50% Arthritis 50% Carious teeth 50% Feeding difficulties in infancy 50% Flexion contracture 50% Malabsorption 50% Muscle weakness 50% Osteolysis 50% Pulmonary fibrosis 50% Skin ulcer 50% Telangiectasia of the skin 50% Xerostomia 50% Chondrocalcinosis 7.5% Congestive heart failure 7.5% Hypertensive crisis 7.5% Nausea and vomiting 7.5% Pulmonary hypertension 7.5% Renal insufficiency 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 are the symptoms of Epidermolysis bullosa simplex, Dowling-Meara type ? 
 What are the signs and symptoms of Epidermolysis bullosa simplex, Dowling-Meara type? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa simplex, Dowling-Meara 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) Abnormal blistering of the skin 90% Abnormality of the fingernails 90% Subcutaneous hemorrhage 90% Palmoplantar keratoderma 50% Skin ulcer 50% Abnormality of skin pigmentation 7.5% Abnormality of the oral cavity 7.5% Constipation 7.5% Feeding difficulties in infancy 7.5% Neoplasm of the skin 7.5% Atrophic scars 5% Autosomal dominant inheritance - Growth delay - Milia - Nail dysplasia - Nail dystrophy - Neonatal onset - Palmoplantar hyperkeratosis - 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 Pheochromocytoma-islet cell tumor syndrome ? 
 What are the signs and symptoms of Pheochromocytoma-islet cell tumor syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pheochromocytoma-islet cell tumor 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) Autosomal dominant inheritance - Axillary freckling - Cafe-au-lait spot - Cerebral hemorrhage - Congestive heart failure - Elevated urinary norepinephrine - Episodic hypertension - Hypercalcemia - Hyperhidrosis - Hypertensive retinopathy - Pheochromocytoma - Positive regitine blocking test - Proteinuria - Tachycardia - 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) Meningoencephalocele ? 
 Meningoencephalocele is a type of encephalocele, which is an abnormal sac of fluid, brain tissue, and meninges (membranes that cover the brain and spinal cord) that extends through a defect in the skull.  There are two main types of meningoencephalocele, which are named according to the location of the sac. The frontoethmoidal type is located at the frontal and ethmoid bones while the occipital type is located at the occipital bone.  Hydrocephalus, abnormalities of the eyeball and tear duct, and other findings have been associated with the condition. Some affected individuals have intellectual or physical disabilities while others have normal development and abilities.  The condition is typically congenital (present at birth) but has been reported to develop by chance in older individuals in rare cases. The underlying cause of the condition is uncertain, but environmental factors are thought to play a role. Treatment depends on the size, location and severity of the defect but mainly includes magnetic resonance imaging (MRI) to determine the severity of the defect, followed by surgery to repair it.
What causes Meningoencephalocele ? 
 What causes meningoencephalocele? The exact cause of meningoencephalocele is not known. Some studies have suggested that environmental factors could play a role in causing the condition. Exposure during pregnancy to aflatoxins, toxins produced by a mold that grows in nuts, seeds, and legumes, has been proposed to be a possible cause in some cases. However, its potential role in causing the condition is unclear. It has also been suggested that folate deficiency during pregnancy might play a role, because the condition is so closely related to spina bifida, which can be caused by folate deficiency. However, there have been no studies regarding the relationship of maternal folate deficiency and meningoencephalocele. Further studies are needed to to clarify what may cause the condition.
Is Meningoencephalocele inherited ? 
 Is meningoencephalocele inherited? Meningoencephalocele is not thought to be an inherited condition. Studies have proposed that meningoencephalocele is likely a multifactorial defect. This means that both environmental factors and multiple genes may interact with each other to cause the condition. Studies have suggested that environmental factors probably play an important role. This information is supported by the fact that several studies have not identified the condition among close relatives of affected individuals. To date, there have been no genes identified that are likely to play a strong part in causing the condition.