Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Spondyloepimetaphyseal dysplasia x-linked with mental deterioration ? 
 What are the signs and symptoms of Spondyloepimetaphyseal dysplasia x-linked with mental deterioration? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia x-linked with mental deterioration. 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) Anterior rib cupping - Brachydactyly syndrome - Broad foot - Broad nasal tip - Broad palm - Coarse facial features - Cone-shaped capital femoral epiphysis - Coxa vara - Delayed CNS myelination - Delayed skeletal maturation - Depressed nasal bridge - Flared iliac wings - Flexion contracture - High palate - Hypertelorism - Hypoplasia of midface - Hypoplasia of the corpus callosum - Hypoplasia of the odontoid process - Intellectual disability, progressive - Low anterior hairline - Low-set ears - Malar flattening - Metaphyseal cupping of metacarpals - Metaphyseal widening - Optic disc pallor - Peg-like central prominence of distal tibial metaphyses - Platyspondyly - Prominent sternum - Seizures - Short femoral neck - Short finger - Short neck - Short stature - Small epiphyses - Spondyloepimetaphyseal dysplasia - Thick eyebrow - Thin ribs - Thoracic kyphosis - Widened subarachnoid space - Wormian bones - 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 is (are) Borjeson-Forssman-Lehmann syndrome ? 
 Borjeson-Forssman-Lehmann syndrome (BFLS) is a genetic condition characterized by intellectual disability, obesity, seizures, hypogonadism, developmental delay and distinctive facial features. These symptoms are variable, even among members of the same family. BFLS is caused by mutations in the PHF6 gene on the X chromosome. This mutation is usually transmitted as an X-linked recessive trait, which means the disorder is fully expressed predominantly in males.
What are the symptoms of Borjeson-Forssman-Lehmann syndrome ? 
 What are the signs and symptoms of Borjeson-Forssman-Lehmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Borjeson-Forssman-Lehmann 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) Abnormal hair quantity 90% Broad foot 90% Camptodactyly of toe 90% Coarse facial features 90% Cognitive impairment 90% Cryptorchidism 90% Gynecomastia 90% Hypoplasia of penis 90% Large earlobe 90% Muscular hypotonia 90% Scrotal hypoplasia 90% Short toe 90% Tapered finger 90% Truncal obesity 90% Blepharophimosis 50% Deeply set eye 50% Prominent supraorbital ridges 50% Ptosis 50% Thick eyebrow 50% Abnormality of the hip bone 7.5% Cataract 7.5% Hearing impairment 7.5% Joint hypermobility 7.5% Macrocephaly 7.5% Microcephaly 7.5% Nystagmus 7.5% Oral cleft 7.5% Peripheral neuropathy 7.5% Seizures 7.5% Short stature 7.5% Skeletal muscle atrophy 7.5% Cervical spinal canal stenosis - Delayed puberty - EEG abnormality - Hypoplasia of the prostate - Intellectual disability, severe - Kyphosis - Macrotia - Micropenis - Obesity - Scheuermann-like vertebral changes - Scoliosis - Shortening of all distal phalanges of the fingers - Shortening of all middle phalanges of the fingers - Thickened calvaria - Visual impairment - Widely spaced toes - 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 is (are) Singleton Merten syndrome ? 
 Singleton Merten syndrome is an extremely rare, multisystem disorder. The major characteristics are tooth abnormalities (dental dysplasia); calcifications in the aorta and certain valves of the heart (i.e., aortic and mitral valves); and progressive thinning and loss of protein of the bones (osteoporosis), especially the upper and back portions of the skull. Other physical findings may include generalized muscle weakness; progressive muscle atrophy; growth delay; delays in motor development; skin conditions; and/or malformation of the hips and/or feet. It appears to occur sporadically (in individuals with no history of the condition in their family) but in some cases, autosomal dominant inheritance has been suggested. Treatment is typically directed toward the specific symptoms that are present in each individual.
How to diagnose Singleton Merten syndrome ? 
 How is Singleton Merten syndrome diagnosed? The diagnosis of Singleton Merten syndrome may be suspected during infancy based upon the identification of characteristic physical findings (i.e., muscle weakness, muscle atrophy, dental abnormalities, and skeletal changes). A diagnosis may be confirmed by a thorough clinical evaluation, a detailed patient history, and/or a variety of specialized tests. The identification of calcium deposits in the aorta, in association with the other findings described above, strongly suggests a diagnosis of Singleton Merten syndrome. X-ray tests may be used to confirm the presence and extent of calcifications in the aorta. Obstruction or narrowing (stenosis) of the heart valves, particularly the aortic and mitral valves, may be confirmed by cardiac catheterization. During this procedure, a small hollow tube (catheter) is inserted into a large vein and threaded through the blood vessels leading to the heart. This procedure allows physicians to determine the rate of blood flow through the heart and measure the pressure within the heart. X-ray studies may also be performed to confirm the presence and extent of osteoporosis. Osteoporosis may be suspected when bone fractures occur more frequently than usual. X-ray tests may also reveal abnormal widening of the hollow parts of the bones that contain soft fatty tissue (bone marrow cavities) within the bones of the hands and/or feet.
What are the treatments for Singleton Merten syndrome ? 
 How might Singleton Merten syndrome be treated? The treatment of Singleton Merten syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, surgeons, specialists who diagnose and treat abnormalities of the heart (cardiologists), dental specialists, physical therapists, specialists who diagnose and treat conditions of the skin (dermatologists), and other health care professionals may need to systematically and comprehensively plan an affected child's treatment. Specific therapies for the treatment of Singleton Merten syndrome are symptomatic and supportive. Special services that may be beneficial to affected children may include special social support, physical therapy, and other medical, social, and/or vocational services. Genetic counseling would be of benefit for affected individuals and their families.
What is (are) Familial hyperinsulinism ? 
 Familial hyperinsulinism is an inherited condition that causes individuals to have abnormally high levels of insulin, which leads to frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, and/or difficulty feeding. Repeated episodes of low blood sugar increase the risk for serious complications such as seizures, intellectual disability, breathing difficulties, and/or coma. Unlike typical episodes of hypoglycemia, which occur after periods without food (fasting), episodes of hypoglycemia in people with familial hyperinsulinism can also occur after eating or exercising. Mutations in at least seven genes have been found to cause this condition. It is often inherited in an autosomal recessive pattern or less commonly, an autosomal dominant pattern.
What are the symptoms of Familial hyperinsulinism ? 
 What are the signs and symptoms of Familial hyperinsulinism? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hyperinsulinism. 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 pancreas 90% Hyperinsulinemia 90% Hypoglycemia 90% Autosomal dominant inheritance - Autosomal recessive inheritance - Heterogeneous - Hyperinsulinemic hypoglycemia - Hypoglycemic coma - Hypoglycemic seizures - Intellectual disability - Large for gestational age - Pancreatic islet-cell hyperplasia - 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) Loin pain hematuria syndrome ? 
 Loin pain hematuria syndrome (LPHS) is a condition that is characterized by persistent or recurrent loin pain and hematuria (blood in the urine). Other signs and symptoms include nausea and vomiting; a low-grade fever (up to 101F); and/or dysuria during episodes of pain. The exact underlying cause of LPHS is currently unknown; however, scientists suspect that it may be due to abnormalities of the glomerular basement membranes (the tissues in the kidney that filter blood); bleeding disorders; or crystal and/or stone formation in the kidneys. Treatment is symptomatic and usually consists of pain management.
What are the symptoms of Loin pain hematuria syndrome ? 
 What are the signs and symptoms of loin pain hematuria syndrome? As the name of the condition suggests, loin pain hematuria syndrome (LPHS) is characterized primarily by recurrent or persistent loin pain and/or hematuria (blood in the urine). The loin pain is sometimes described as burning or throbbing and may worsen with exercise or when lying in a supine (face upward) position. Although some may only experience pain on one side initially, most people with LPHS will eventually develop bilateral (on both sides) loin pain. During episodes of pain, affected people may also experience nausea and vomiting; a low-grade fever (up to 101F); and/or dysuria.
What causes Loin pain hematuria syndrome ? 
 What causes loin pain hematuria syndrome? The exact underlying cause of loin pain hematuria syndrome (LPHS) is currently unknown. However, scientists have proposed several theories. For example, some cases of LPHS may be due to abnormal glomerular basement membranes, which are the tissues in the kidney that filter blood. If these tissues are abnormal, red blood cells may be allowed to enter the urinary space, leading to both loin pain and hematuria (blood in the urine). Other factors that may lead to the signs and symptoms of LPHS include: Blood disorders, called coagulopathies, which impair the bloods ability to clot Spasms in the kidney's blood vessels which may restrict blood flow to certain tissues and lead to tissue death Up to 50% of people affected by LPHS also experience kidney stones. Some scientists, therefore, suspect that the formation of crystals and/or stones in the kidney may also contribute to the condition as they may block or injure the renal tubules (the long narrow tubes in the kidney that concentrate and transport urine).
How to diagnose Loin pain hematuria syndrome ? 
 How is loin pain hematuria syndrome diagnosed? A diagnosis of loin pain hematuria syndrome is suspected based on the presence of characteristic signs and symptoms, after other conditions that cause similar features have been excluded. Severe hematuria (blood in urine) may be obvious; however, a urinalysis can be performed to detect microscopic levels of hematuria. In some cases, a kidney biopsy may also be recommended to evaluate the structure and function of the kidney.
What are the treatments for Loin pain hematuria syndrome ? 
 How might loin pain hematuria syndrome be treated? Treatment of loin pain hematuria syndrome (LPHS) typically consists of pain management. Narcotics or oral opioids may be prescribed to help control pain. Patients with severe pain may need high-dose opioids daily and may occasionally require hospitalization for intravenous pain relievers and control of nausea. Limited evidence suggests that drugs that inhibit angiotensin may reduce the frequency and severity of episodes of loin pain and severe hematuria. People with debilitating pain who do not respond to other therapies may be offered surgery (i.e. a nerve block, nephrectomy, kidney auto-transplantation); however, surgical treatment of LPHS is controversial as studies suggest that it has limited value for treating recurrent pain.
What are the symptoms of Natal teeth, intestinal pseudoobstruction and patent ductus ? 
 What are the signs and symptoms of Natal teeth, intestinal pseudoobstruction and patent ductus? The Human Phenotype Ontology provides the following list of signs and symptoms for Natal teeth, intestinal pseudoobstruction and patent ductus. 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) Advanced eruption of teeth 90% Decreased antibody level in blood 90% Malabsorption 90% Patent ductus arteriosus 90% Abnormality of the cardiac septa 50% Congenital diaphragmatic hernia 50% Natal tooth - 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) Polydactyly ? 
 Polydactyly is a condition in which a person has more than five fingers per hand or five toes per foot. It is the most common birth defect of the hand and foot. Polydactyly can occur as an isolated finding such that the person has no other physical anomalies or intellectual impairment. However, it can occur in association with other birth defects and cognitive abnormalities as part of a genetic syndrome. In some cases, the extra digits may be well-formed and functional. Surgery may be considered especially for poorly formed digits or very large extra digits. Surgical management depends greatly on the complexity of the deformity. [1] [2]
What are the symptoms of Familial visceral myopathy with external ophthalmoplegia ? 
 What are the signs and symptoms of Familial visceral myopathy with external ophthalmoplegia? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial visceral myopathy with external ophthalmoplegia. 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 gastric mucosa 90% Decreased body weight 90% Malabsorption 90% Myopathy 90% Ptosis 90% Skeletal muscle atrophy 90% Abnormality of the mitral valve 7.5% Abdominal distention - Abdominal pain - Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - External ophthalmoplegia - Gastroparesis - Malnutrition - Ophthalmoplegia - Peripheral neuropathy - Spontaneous esophageal perforation - 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) Pseudopelade of Brocq ? 
 Pseudopelade of Brocq (PBB) is a slowly progressive, chronic condition characterized by scarring hair loss (cicatricial alopecia). There exists some controversy as to whether PBB is a distinct condition or the common final stage or variant of several different forms of scarring alopecias such as discoid lupus erythematosus (DLE) or lichen planopilaris (LPP). Some have suggested abandoning the use of the term pseudopelade of Brocq while others think that the term should be strictly used to describe patients that follow the pattern of hair loss described by Brocq et al.(i.e., multiple, small, discrete, asymmetrical, smooth, soft, flesh-colored or white patches of hair loss with little, if any, inflammation). Although the exact cause of PBB has not been identified, it is believed to be an autoimmune disease. Some individuals with PBB have been found to have Borrelia burgdorferi, the bacterium that causes Lyme disease.  Neither an effective treatment nor cure is currently available.
What are the symptoms of Pseudopelade of Brocq ? 
 What are the signs and symptoms of Pseudopelade of Brocq? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudopelade of Brocq. 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) Alopecia 90% Hypertrichosis 90% Lichenification 90% Skin ulcer 50% Abnormality of the nail 7.5% Aplasia/Hypoplasia of the eyebrow 7.5% Cheilitis 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 treatments for Pseudopelade of Brocq ? 
 Is there treatment or a cure for pseudopelade of Brocq? Neither an effective treatment nor cure has been identified for pseudopelade of Brocq.  Unfortunately, even when treatment relieves the symptoms and signs, the progression of hair loss may continue. The choice of treatment prescribed varies from person to person and depends mainly on the activity, extent of the disease and patient's tolerance to the treatment. Various forms of corticosteroids have been tried, including injections or skin lotions or creams. Surgery such as hair transplant or scalp reduction might be considered in patients whose condition has remained stable for two or more years.
What is (are) Desmoplastic small round cell tumor ? 
 Desmoplastic small round cell tumors (DSRCT), a rare malignant cancer, is a soft tissue sarcoma that usually affects young boys and men and is found most often in the abdomen. Its name means that it is formed by small, round cancer cells surrounded by scarlike tissue. The most common symptoms include abdominal pain, abdominal mass and symptoms of gastrointestinal obstruction. DSRCTs are treated first with chemotherapy, then with surgery to remove the tumor, if possible. Radiation therapy is sometimes given, depending on the tumor. In addition, some people with DSRCT are candidates for a bone marrow transplant.