Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Fraser like syndrome ? 
 What are the signs and symptoms of Fraser like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fraser like 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 recessive inheritance - Contracture of the proximal interphalangeal joint of the 2nd finger - Ovarian cyst - Overlapping toe - Subglottic stenosis - 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) Geroderma osteodysplastica ? 
 Geroderma osteodysplastica is an autosomal recessive disorder characterized by lax, wrinkled skin, loose joints and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia (underdeveloped cheekbones and jaw) and a variable degree of growth deficiency. This condition is caused by mutations in the GORAB gene.
What are the symptoms of Geroderma osteodysplastica ? 
 What are the signs and symptoms of Geroderma osteodysplastica? The Human Phenotype Ontology provides the following list of signs and symptoms for Geroderma osteodysplastica. 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) Cutis laxa 90% Hyperextensible skin 90% Joint hypermobility 90% Recurrent fractures 90% Reduced bone mineral density 90% Short stature 90% Thin skin 90% Abnormality of the hip bone 50% Muscular hypotonia 50% Scoliosis 50% Abnormality of epiphysis morphology 7.5% Cognitive impairment 7.5% Hernia 7.5% Hypoplasia of the zygomatic bone 7.5% Mandibular prognathia 7.5% Microcornea 7.5% Pectus carinatum 7.5% Pes planus 7.5% Platyspondyly 7.5% Prematurely aged appearance 7.5% Talipes 7.5% Autosomal recessive inheritance - Beaking of vertebral bodies - Biconcave vertebral bodies - Camptodactyly - Deeply set eye - Delayed speech and language development - Femoral bowing - Hyperextensibility of the finger joints - Hypoplasia of the maxilla - Intellectual disability - Malar flattening - Microcephaly - Osteopenia - Osteoporosis - Periodontitis - Severe short stature - Tibial bowing - Vertebral compression fractures - Wormian bones - 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 Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ? 
 What are the signs and symptoms of Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia? The Human Phenotype Ontology provides the following list of signs and symptoms for Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia. 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) Facial palsy 5% Abnormality of pelvic girdle bone morphology - Amyotrophic lateral sclerosis - Autosomal dominant inheritance - Back pain - Difficulty climbing stairs - Distal amyotrophy - Dysphasia - Dystonia - Elevated alkaline phosphatase of bone origin - Elevated serum creatine phosphokinase - Frontal cortical atrophy - Frontotemporal dementia - Gait disturbance - Limb muscle weakness - Lumbar hyperlordosis - Myopathy - Pelvic girdle amyotrophy - Pelvic girdle muscle atrophy - Pelvic girdle muscle weakness - Proximal muscle weakness - Rimmed vacuoles - Scapular winging - Shoulder girdle muscle atrophy - Shoulder girdle muscle weakness - Temporal cortical atrophy - 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 Hypohidrotic ectodermal dysplasia with immune deficiency ? 
 What are the signs and symptoms of Hypohidrotic ectodermal dysplasia with immune deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypohidrotic ectodermal dysplasia with immune 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) Dysgammaglobulinemia - Ectodermal dysplasia - Immunodeficiency - Recurrent infections - 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 are the symptoms of Dystonia 11 ? 
 What are the signs and symptoms of Dystonia 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 11. 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) Muscular hypotonia 5% Agoraphobia - Anxiety - Autosomal dominant inheritance - Depression - Incomplete penetrance - Juvenile onset - Myoclonus - Obsessive-compulsive behavior - Torticollis - Tremor - Writer's cramp - 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 Microcephaly, holoprosencephaly, and intrauterine growth retardation ? 
 What are the signs and symptoms of Microcephaly, holoprosencephaly, and intrauterine growth retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly, holoprosencephaly, and intrauterine growth retardation. 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 segment dysgenesis - Atresia of the external auditory canal - Autosomal recessive inheritance - Convex nasal ridge - Hypertelorism - Intrauterine growth retardation - Macrotia - Microcephaly - Narrow mouth - Retrognathia - Semilobar holoprosencephaly - Strabismus - Telecanthus - Ventricular septal defect - 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 Radio-ulnar synostosis type 2 ? 
 What are the signs and symptoms of Radio-ulnar synostosis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Radio-ulnar synostosis 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) Autosomal dominant inheritance - Dislocated radial head - Limited elbow extension - Radioulnar synostosis - 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) Pulmonary vein stenosis ? 
 Pulmonary vein stenosis is a very rare and serious condition in which there is a blockage in the blood vessels that bring oxygen-rich blood from the lungs back to the heart. This condition can be isolated to one vein, but often affects multiple veins. Stenosis occurs when there is an abnormal thickening and narrowing of the walls of the veins. Pulmonary vein stenosis is a progressive condition and may lead to total obstruction to a blood vessel. Most commonly, all of the pulmonary veins of one lung are affected, causing pulmonary hypertension and pulmonary arterial hypertension. Surgery and catheterization to widen the narrow veins is usually a short-term solution since the obstruction typically recurs.
What are the symptoms of Pulmonary vein stenosis ? 
 What are the signs and symptoms of Pulmonary vein stenosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary vein stenosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypertension 90% Respiratory insufficiency 50% Abnormality of the cardiac septa 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Kuskokwim disease ? 
 Kuskokwim disease is a congenital (present at birth) contracture disorder that occurs solely among Yup'ik Eskimos in and around the Kuskokwim River delta region of southwest Alaska. Affected individuals usually, but not always, have congenital contractures of large joints (especially knees and/or elbows) and spinal, pelvic, and foot deformities. Other skeletal features have also been reported. Kuskokwim disease has been shown to be caused by mutations in the FKBP10 gene and is inherited in an autosomal recessive manner.
What are the symptoms of Kuskokwim disease ? 
 What are the signs and symptoms of Kuskokwim disease? The range and and severity of signs and symptoms in individuals with Kuskokwim disease can vary, even among siblings. Affected individuals usually have congenital contractures, especially of lower extremities, which progress during childhood and persist for the lifetime of the individual. However, not all individuals with the condition have contractures at birth. The severity of contractures can be very asymmetrical in any given individual. The knees and elbows are often affected, and skeletal abnormalities of the spine, pelvis, and feet also commonly occur. Muscle atrophy of limbs with contractures and displacement of kneecaps (patellae) have also been reported. Milder skeletal features are common. Vertebral features may include spondylolisthesis, mild to moderate scoliosis, and/or lordosis. Many affected individuals have had several low-energy fractures. Other skeletal abnormalities that have been reported include bunions (hallux valgus), "flat feet" (plano valgus feet), and clubfoot (talipes equinovarus). Development and arrangement of the teeth (dentition) are normal. Although some individuals with full bilateral contractures of the knees can move about by duck walking (sitting with buttocks on their heels) or by knee walking (moving on their knees with their lower legs drawn up behind them to their buttocks), most affected individuals are treated with leg braces and/or surgery in childhood and can walk upright. The Human Phenotype Ontology provides the following list of signs and symptoms for Kuskokwim 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) Gait disturbance 90% Limitation of joint mobility 90% Patellar aplasia 90% Talipes 50% Abnormal form of the vertebral bodies 7.5% Abnormality of the clavicle 7.5% Aplasia/Hypoplasia of the radius 7.5% Melanocytic nevus 7.5% Scoliosis 7.5% Autosomal recessive inheritance - Skeletal muscle atrophy - 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 Kuskokwim disease ? 
 How might Kuskokwim disease be treated? Treatment for Kuskokwim disease depends on the nature and severity of signs and symptoms in each affected individual. There is currently no completely successful approach to treat arthrogryposis. The goals of treatment may include lower-limb alignment, establishing stability for ambulation (moving about) and improving upper-limb function for self-care. Many individuals with Kuskokwim disease are treated with leg braces and/or surgery and eventually are able to walk upright.
What is (are) Beta-thalassemia ? 
 Beta-thalassemia is a blood disorder that reduces the body's production of hemoglobin. Low levels of hemoglobin lead to a shortage of mature red blood cells and a lack of oxygen in the body. Affected people have anemia, which can cause paleness, weakness, fatigue, and more serious complications. Severe beta-thalassemia is called thalassemia major or Cooleys anemia. Thalassemia intermedia is a less severe form. Beta-thalassemia is caused by mutations in the HBB gene and is usually inherited in an autosomal recessive manner. People who have only one HBB gene mutation may have no symptoms or develop mild symptoms, and are said to have thalassemia minor. Treatment depends on the severity in each person and may include transfusions, folic acid supplementation, iron chelation, and/or bone marrow transplantation (the only definitive cure).
What are the symptoms of Beta-thalassemia ? 
 What are the signs and symptoms of Beta-thalassemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Beta-thalassemia. 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 heme biosynthetic pathway 90% Hypersplenism 90% Pallor 90% Splenomegaly 90% Abnormality of iron homeostasis 50% Abnormality of temperature regulation 50% Abnormality of the genital system 50% Abnormality of the teeth 50% Behavioral abnormality 50% Biliary tract abnormality 50% Depressed nasal bridge 50% Feeding difficulties in infancy 50% Genu valgum 50% Hepatomegaly 50% Malabsorption 50% Malar prominence 50% Muscle weakness 50% Paresthesia 50% Reduced bone mineral density 50% Respiratory insufficiency 50% Upslanted palpebral fissure 50% Abnormality of color vision 7.5% Abnormality of the thorax 7.5% Anterior hypopituitarism 7.5% Arthralgia 7.5% Bone marrow hypocellularity 7.5% Cataract 7.5% Cirrhosis 7.5% Diabetes mellitus 7.5% Elevated hepatic transaminases 7.5% Hearing impairment 7.5% Hypertrophic cardiomyopathy 7.5% Hypoparathyroidism 7.5% Hypothyroidism 7.5% Neoplasm of the liver 7.5% Nyctalopia 7.5% Primary adrenal insufficiency 7.5% Pulmonary hypertension 7.5% Skeletal dysplasia 7.5% Skin ulcer 7.5% Sudden cardiac death 7.5% Thrombocytopenia 7.5% Thrombophlebitis 7.5% Visual impairment 7.5% Hypochromic microcytic anemia - Reduced beta/alpha synthesis ratio - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Is Beta-thalassemia inherited ? 
 How is beta-thalassemia inherited? Beta-thalassemia major and beta-thalassemia intermedia are usually inherited in an autosomal recessive manner, which means both copies of the HBB gene in each cell have mutations. The parents of a person with an autosomal recessive condition each carry one copy of the mutated gene and are referred to as carriers. When two carriers have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% (1 in 4) chance to be unaffected and not be a carrier. Sometimes, people with only one HBB gene mutation in each cell (carriers) do have mild anemia. These people are said to have 'beta-thalassemia minor' or 'beta-thalassemia trait.'  In a small percentage of families, the condition is inherited in an autosomal dominant manner. In these cases, one mutated copy of the gene in each cell is enough to cause the signs and symptoms of beta-thalassemia.