Druvith/transformed_medDataset huggingface dataset:
What are the treatments for Progressive bulbar palsy ? 
 How is progressive bulbar palsy treated? Treatments aim to help people cope with the symptoms of progressive bulbar palsy, such as feeding tubes, devices to help with talking, and medicines to treat muscle spasms, weakness, drooling, sleep problems, pain, and depression. The Robert Packard Center for ALS Research at John Hopkins offers further general information on treatment: http://www.alscenter.org/living_with_als/treatment.html The Mayo Clinic provides information on treatment of ALS in general, which may be helpful: http://www.mayoclinic.org/diseases-conditions/amyotrophic-lateral-sclerosis/basics/treatment/con-20024397 If you are interested in learning about clinical trials, we recommend that you call the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH) at 1-800-411-1222. Organizations, such as the ALS Association and Muscular Dystrophy Association are great sources for information on clinical trial opportunities and research. You can find information about participating in a clinical trial as well as learn about resources for travel and lodging assistance, through the Get Involved in Research section of our Web site.
What is (are) Congenital porphyria ? 
 Congenital erythropoietic porphyria (CEP) is the rarest porphyria and is commonly seen in infancy, although it may begin in adulthood.  It is characterized by severe skin photosensitivity that may lead to scarring, blistering, and increased hair growth at the face and back of the hands. Photosensitivity and infection may cause the loss of fingers and facial features. Symptoms of CEP range from mild to severe and may include hypertrichosis, reddish discoloration of the teeth, anemia, and reddish-colored urine. In CEP, there is a defect in the synthesis of heme within the red blood cells of bone marrow. This defect leads to an increase in the buildup and, therefore, waste of porphyrin and its precursors, which leads to the signs and symptoms. Treatment for CEP may include activated charcoal or a bone marrow transplant, which can improve the anemia and future blister or scar formations from photosensitivity. Blood transfusions or spleen removal may also reduce the amount of porphyrin produced from bone marrow. This condition is inherited in an autosomal recessive fashion and is caused by mutations in the UROS gene.
What are the symptoms of Congenital porphyria ? 
 What are the signs and symptoms of Congenital porphyria? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital porphyria. 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 dental color 90% Abnormality of the heme biosynthetic pathway 90% Abnormality of urine homeostasis 90% Cutaneous photosensitivity 90% Hemolytic anemia 90% Hypertrichosis 90% Self-injurious behavior 90% Splenomegaly 90% Abnormality of immune system physiology 50% Recurrent fractures 50% Reduced bone mineral density 50% Thrombocytopenia 7.5% Abnormality of the mouth - Alopecia - Atypical scarring of skin - Autosomal recessive inheritance - Cholelithiasis - Congenital onset - Conjunctivitis - Corneal scarring - Hyperpigmentation of the skin - Hypopigmentation of the skin - Joint contracture of the hand - Loss of eyelashes - Osteolysis - Osteopenia - Pathologic fracture - Scleroderma - Short stature - Thickened skin - Vertebral compression fractures - 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) Russell-Silver syndrome ? 
 Russell-Silver syndrome (RSS) is a congenital disorder that causes poor growth; low birth weight; short height; and size differences (asymmetry) of parts of the body. Other signs and symptoms may include poor appetite; low blood sugar (hypoglycemia) due to feeding difficulties; a small, triangular face with distinctive facial features; clinodactyly (curved finger); digestive system abnormalities; delayed development; and/or learning disabilities. The genetic causes of RSS are complex and relate to certain genes that control growth. Most cases are not inherited from a parent and occur sporadically. In rare cases, it may be inherited in an autosomal dominant or autosomal recessive manner.
What are the symptoms of Russell-Silver syndrome ? 
 What are the signs and symptoms of Russell-Silver syndrome? Signs and symptoms of Russell-Silver syndrome (RSS) can vary and may include: intrauterine growth restriction low birth weight poor growth short stature curving of the pinky finger (clinodactyly) characteristic facial features (wide forehead; small, triangular face; and small, narrow chin) arms and legs of different lengths cafe-au-lait spots (birth marks) delayed bone age gastroesophageal reflux disease kidney problems "stubby" fingers and toes developmental delay learning disabilities The Human Phenotype Ontology provides the following list of signs and symptoms for Russell-Silver 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) Blue sclerae 90% Clinodactyly of the 5th finger 90% Decreased body weight 90% Downturned corners of mouth 90% Intrauterine growth retardation 90% Short stature 90% Triangular face 90% Asymmetric growth 50% Delayed skeletal maturation 50% Hypoglycemia 50% Thin vermilion border 50% Abnormality of the cardiovascular system 7.5% Abnormality of the urinary system 7.5% Cognitive impairment 7.5% Precocious puberty 7.5% Abnormality of the foot - Abnormality of the ureter - Cafe-au-lait spot - Congenital posterior urethral valve - Craniofacial disproportion - Craniopharyngioma - Delayed cranial suture closure - Fasting hypoglycemia - Frontal bossing - Growth hormone deficiency - Hepatocellular carcinoma - Hypospadias - Nephroblastoma (Wilms tumor) - Short distal phalanx of the 5th finger - Short middle phalanx of the 5th finger - Small for gestational age - Sporadic - Syndactyly - Testicular seminoma - 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 causes Russell-Silver syndrome ? 
 What causes Russell-Silver syndrome? Russell-Silver syndrome (RSS) is a genetic disorder that usually results from the abnormal regulation of certain genes that control growth. Two genetic causes have been found to result in the majority of cases: abnormalities at an imprinted region on chromosome 11p15 - for some genes, only the copy inherited from a person's father (paternal copy) or mother (maternal copy) is "turned on," or expressed. These parent-specific differences in gene expression are caused by a phenomenon called genomic imprinting. Abnormalities involving genes that undergo imprinting are responsible for many cases of RSS. maternal disomy of chromosome 7 (written as matUPD7) - this occurs when a child inherits both copies of chromosome 7 from the mother, instead of one copy from the mother and one copy from the father. Other chromosome abnormalities involving any of several chromosomes have also been described as causing RSS, or RSS-like syndromes. In some people with RSS, the underlying cause remains unknown.
Is Russell-Silver syndrome inherited ? 
 Is Russell-Silver syndrome inherited? Most cases of Russell-Silver syndrome (RSS) are sporadic (not inherited), which means they occur in people with no family history of RSS. Less commonly, Russell-Silver syndrome is inherited. In some families, it appears to be inherited in an autosomal dominant manner. This means that having one "copy" of a genetic change in each cell is enough to cause the disorder. In some cases, an affected person inherits the genetic change from a parent. In other cases, the change occurs for the first time in an affected person. When a person with a genetic change that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the genetic change. In other families, the condition is inherited in an autosomal recessive manner. This means that to be affected, a person must have a change in both copies of the responsible gene in each cell. Affected people inherit one copy from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier
What is (are) Carbamoyl phosphate synthetase 1 deficiency ? 
 Carbamoyl phosphate synthetase I deficiency is type of urea cycle disorder. It causes toxic levels of ammonia to accumulate in the blood. Signs and symptoms in newborns may include a lack of energy, unwillingness to eat, seizures, unusual body movements, and poorly controlled breathing or body temperature. Complications may include coma, developmental delay, and learning disability. Some individuals have a less severe form of the deficiency, and have milder symptoms that may not appear until later in life. Carbamoyl phosphate synthetase I deficiency is caused by mutations in the CPS1 gene and is inherited in an autosomal recessive fashion.
What are the symptoms of Carbamoyl phosphate synthetase 1 deficiency ? 
 What are the signs and symptoms of Carbamoyl phosphate synthetase 1 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Carbamoyl phosphate synthetase 1 deficiency. 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) Aminoaciduria 90% Hyperammonemia 90% Muscular hypotonia 90% Respiratory insufficiency 90% Seizures 90% Stroke 5% Ataxia - Autosomal recessive inheritance - Cerebral edema - Coma - Episodic ammonia intoxication - Failure to thrive - Hypoargininemia - Intellectual disability - Irritability - Lethargy - Low plasma citrulline - Protein avoidance - Respiratory alkalosis - 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 symptoms of Osteopenia and sparse hair ? 
 What are the signs and symptoms of Osteopenia and sparse hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopenia and sparse hair. 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% Abnormal nasal morphology 90% Cognitive impairment 90% Frontal bossing 90% Hypertelorism 90% Increased bone mineral density 90% Macrocephaly 90% Malar flattening 90% Reduced bone mineral density 90% Joint hypermobility 50% Low-set, posteriorly rotated ears 50% Mandibular prognathia 50% Abnormality of the face - Autosomal recessive inheritance - Intellectual disability - Joint laxity - Muscular hypotonia - Osteopenia - Sparse hair - 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 Pontocerebellar hypoplasia type 6 ? 
 What are the signs and symptoms of Pontocerebellar hypoplasia type 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia type 6. 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) Apnea - Autosomal recessive inheritance - Cerebellar atrophy - Cerebellar hypoplasia - Cerebral atrophy - Congenital onset - Death in childhood - Deeply set eye - Failure to thrive - Hyperreflexia - Increased CSF lactate - Increased serum lactate - Lower limb spasticity - Muscular hypotonia - Narrow forehead - Narrow palate - Poor head control - Poor suck - Progressive - Progressive microcephaly - Prominent nasal bridge - Seizures - Upper limb spasticity - 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 Charcot-Marie-Tooth disease type 4B2 ? 
 What are the signs and symptoms of Charcot-Marie-Tooth disease type 4B2? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 4B2. 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) Areflexia - Autosomal recessive inheritance - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Difficulty walking - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Foot dorsiflexor weakness - Glaucoma - Hammertoe - Hyporeflexia - Juvenile onset - Kyphoscoliosis - Onion bulb formation - Pes cavus - Segmental peripheral demyelination/remyelination - Sensorineural hearing impairment - Steppage gait - Talipes equinovarus - Ulnar claw - 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 Spinal intradural arachnoid cysts ? 
 What are the signs and symptoms of Spinal intradural arachnoid cysts? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal intradural arachnoid cysts. 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 vertebral column - Arachnoid cyst - Autosomal dominant inheritance - Paraplegia - 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 Palmoplantar keratoderma, epidermolytic ? 
 What are the signs and symptoms of Palmoplantar keratoderma, epidermolytic? The Human Phenotype Ontology provides the following list of signs and symptoms for Palmoplantar keratoderma, epidermolytic. 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) Palmoplantar keratoderma 90% Verrucae 90% Abnormality of the fingernails 50% Eczema 50% Hyperhidrosis 50% Autosomal dominant inheritance - Increased IgE level - Localized epidermolytic hyperkeratosis - 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.