Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Wilson-Turner syndrome ? 
 What are the signs and symptoms of Wilson-Turner syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wilson-Turner 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) Obesity 90% Gynecomastia 50% Neurological speech impairment 50% Abnormality of calvarial morphology 7.5% Abnormality of the voice 7.5% Aplasia/Hypoplasia of the earlobes 7.5% Arthritis 7.5% Coarse facial features 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Gait disturbance 7.5% Hypoplasia of penis 7.5% Incoordination 7.5% Large earlobe 7.5% Lymphedema 7.5% Macrotia 7.5% Mandibular prognathia 7.5% Narrow mouth 7.5% Pointed chin 7.5% Preauricular skin tag 7.5% Reduced number of teeth 7.5% Round ear 7.5% Scoliosis 7.5% Seizures 7.5% Short palm 7.5% Striae distensae 7.5% Synophrys 7.5% Tapered finger 7.5% Thick eyebrow 7.5% Toxemia of pregnancy 7.5% Umbilical hernia 7.5% Brachycephaly - Broad nasal tip - Decreased muscle mass - Decreased testicular size - Deeply set eye - Delayed puberty - Delayed speech and language development - Emotional lability - Hypogonadism - Intellectual disability - Kyphosis - Microcephaly - Micropenis - Misalignment of teeth - Muscular hypotonia - Prominent supraorbital ridges - Retrognathia - Short ear - Short foot - Short stature - Small hand - Truncal obesity - X-linked dominant inheritance - 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) Multiple epiphyseal dysplasia ? 
 Multiple epiphyseal dysplasia (MED) is a group of disorders of cartilage and bone development, primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of MED, which are distinguished by their patterns of inheritance - autosomal dominant and autosomal recessive. Signs and symptoms may include joint pain in the hips and knees; early-onset arthritis; a waddling walk; and mild short stature as adults. Recessive MED may also cause malformations of the hands, feet, and knees; scoliosis; or other abnormalities. Most people are diagnosed during childhood, but mild cases may not be diagnosed until adulthood. Dominant MED is caused by mutations in the COMP, COL9A1, COL9A2, COL9A3, or MATN3 genes (or can be of unknown cause), and recessive MED is caused by mutations in the SLC26A2 gene.
Is Multiple epiphyseal dysplasia inherited ? 
 How is multiple epiphyseal dysplasia inherited? Multiple epiphyseal dysplasia (MED) may be inherited in an autosomal dominant or autosomal recessive manner depending on the genetic cause. Most cases are autosomal dominant. In autosomal dominant inheritance, having a mutation in only one of the 2 copies of the responsible gene is enough to cause the condition. The mutation may be inherited from a parent or can occur for the first time in the affected person. Each child of a person with an autosomal dominant condition has a 50% (1 in 2) chance to inherit the mutation. More rarely, MED is inherited in an autosomal recessive manner. In autosomal recessive inheritance, a person must have a mutation in both copies of the responsible gene to be affected. The parents of a person with an autosomal recessive condition usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not have signs or symptoms and are unaffected. When two carriers for the same condition 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% to be both unaffected and not a carrier.
What is (are) Idiopathic inflammatory myopathy ? 
 Idiopathic inflammatory myopathy refers to a group of conditions that affect the skeletal muscles (muscles used for movement). Although the condition can be diagnosed at any age, idiopathic inflammatory myopathy most commonly occurs in adults between ages 40 and 60 years or in children between ages 5 and 15 years. Signs and symptoms of the condition include muscle weakness, joint pain and fatigue. There are several forms of idiopathic inflammatory myopathy, including polymyositis, dermatomyositis, and sporadic inclusion body myositis, which are each associated with unique features. As the name suggests, the cause of the condition is currently unknown (idiopathic). However, researchers suspect that it may occur due to a combination of genetic and environmental factors. Treatment is supportive and based on the signs and symptoms present in each person.
What are the symptoms of Idiopathic inflammatory myopathy ? 
 What are the signs and symptoms of Idiopathic inflammatory myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic inflammatory myopathy. 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 - Myositis - Proximal muscle weakness - 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) Split hand foot malformation ? 
 Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing digits. SHFM may occur by itself (isolated) or it may be part of a syndrome with abnormalities in other parts of the body. At least six different forms of isolated SHFM have been described. Each type is associated with a different underlying genetic cause. SHFM1 has been linked to chromosome 7, and SHFM2 is linked to the X chromosome. SHFM3 is caused by a duplication of chromosome 10 at position 10q24. Changes (mutations) in the TP63 gene cause SHFM4. SHFM5 is linked to chromosome 2, and SHFM6 is caused by mutations in the WNT10B gene. SHFM may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.
What are the symptoms of Split hand foot malformation ? 
 What are the signs and symptoms of Split hand foot malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand foot malformation. 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 chromosome segregation 90% Abnormality of the ankles 90% Abnormality of the metacarpal bones 90% Low-set, posteriorly rotated ears 90% Abnormality of the wrist 50% Aplasia/Hypoplasia of the radius 50% Aplasia/Hypoplasia of the thumb 50% Cognitive impairment 50% Conductive hearing impairment 50% Cryptorchidism 50% Myopia 50% Narrow mouth 50% Proteinuria 50% Renal hypoplasia/aplasia 50% Renal insufficiency 50% Abnormality of the pinna 35% Hearing impairment 35% Cleft palate 33% Intellectual disability 33% Oligodactyly (feet) 33% Oligodactyly (hands) 33% Syndactyly 33% Abnormality of cardiovascular system morphology 13% Abnormality of the ulna 7.5% Absent hand 7.5% Aplasia/Hypoplasia of the iris 7.5% Aplasia/Hypoplasia of the tongue 7.5% Macrocephaly 7.5% Microdontia 7.5% Nystagmus 7.5% Prominent nasal bridge 7.5% Sensorineural hearing impairment 7.5% Short stature 7.5% Tarsal synostosis 7.5% Hypoplasia of the maxilla 5% Aplasia/Hypoplasia involving the metacarpal bones - Aplasia/Hypoplasia of metatarsal bones - Aplasia/Hypoplasia of the phalanges of the hand - Aplasia/Hypoplasia of the phalanges of the toes - Autosomal dominant inheritance - Autosomal recessive inheritance - Broad hallux - Camptodactyly - Clinodactyly - Ectrodactyly - Finger syndactyly - High palate - Incomplete penetrance - Microretrognathia - Nail dystrophy - Renal hypoplasia - Ridged nail - Short metacarpal - Short phalanx of finger - Split foot - Split hand - Toe syndactyly - Triphalangeal thumb - 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 causes Split hand foot malformation ? 
 What causes split hand foot malformation? Split hand foot malformation may occur as an isolated feature or it may be associated with a genetic syndrome. Researchers believe that a large number of mutations can cause split hand foot malformation. A few of which have been identified: FBXW4 and TP63. Most commonly the conditions are passed through families in an autosomal dominant fashion with reduced penetrance. In autosomal dominant inheritance an affected parent would have a 1 in 2 or 50% chance with each pregnancy of passing the genetic defect to his/her offspring. In conditions with reduced penetrance a person who inherits the underlying genetic defect, may never develop the condition. More rarely other forms of inheritance have been reported (e.g., autosomal-recessive, X-linked, chromosome deletions, chromosome duplications).
What is (are) Congenital dyserythropoietic anemia type 2 ? 
 Congenital dyserythropoietic anemia type 2 (CDA II) is an inherited blood disorder characterized by mild to severe anemia. It is usually diagnosed in adolescence or early adulthood. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly) and gallstones. This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA type II have mediastinal tumors. CDA type II usually results from mutations in the SEC23B gene. It is inherited in an autosomal recessive pattern. Treatment depends on the severity of the symptoms and may involve blood transfusions, iron chelation therapy and removal of the spleen and gallbladder.
What are the symptoms of Congenital dyserythropoietic anemia type 2 ? 
 What are the signs and symptoms of Congenital dyserythropoietic anemia type 2? The signs and symptoms of CDA II include jaundice, gallstones and an enlarged liver and spleen. This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA type II have mediastinal tumors. During pregnancy and other special circumstances (such as anemic crisis, major surgery and infections), blood transfusions may be necessary. The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital dyserythropoietic anemia 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) Anemia of inadequate production - Autosomal recessive inheritance - Cholelithiasis - Endopolyploidy on chromosome studies of bone marrow - Jaundice - Reduced activity of N-acetylglucosaminyltransferase II - Reticulocytosis - Splenomegaly - 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 Congenital dyserythropoietic anemia type 2 ? 
 How might congenital dyserythropoietic anemia (CDA) type 2 be treated? The goal of CDA type 2 treatment is to address and prevent complications from anemia and iron overload. Most people with CDA type 2 develop iron overload, for some this is as early as in their 20's.  If a person with CDA type 2 has mild anemia, but evidence of iron loading, treatment may involve phlebotomy. An alternative treatment is chelation therapy. In particular, chelation therapy is preferred for people with iron (ferritin) levels greater than 1000 mg/L. The Iron Disorders Institute provides information on chelation therapy through their Web site at: http://www.irondisorders.org/chelation-therapy Many people with CDA-2 maintain hemoglobin levels just above the threshold for symptoms. Mild anemia may not need treatment, as long as it doesn't worsen.  Less commonly CDA-2 causes severe anemia. Treatment of severe anemia may involve blood transfusions. Blood transfusions can raise iron levels so, careful monitoring and treatment for iron overload is required. The National Heart, Lung, and Blood Institute offers tips for living with hemolytic anemia at the following link: http://www.nhlbi.nih.gov/health/health-topics/topics/ha/livingwith Splenectomy is considered for people with CDA-2 and severe anemia. Splenectomy can cause a consistent rise in hemoglobin values. The spleen, however, is important in fighting infection.  People, particularly children, who have had a splenectomy are more likely to contract a serious and possibly life-threatening infection (sepsis). This risk must be carefully weighed. Splenectomy does not affect iron overload. Lastly, people with very severe CDA-2 may be candidates for hematopoietic stem cell transplantation (HSCT). Currently this is the only available curative treatment for CDA-2.
What are the symptoms of Rhabdomyosarcoma alveolar ? 
 What are the signs and symptoms of Rhabdomyosarcoma alveolar? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhabdomyosarcoma alveolar. 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) Alveolar rhabdomyosarcoma - Autosomal 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) Congenital contractural arachnodactyly ? 
 Congenital contractural arachnodactyly (CCA) is a genetic disorder that is typically characterized by tall height; skinny, long limbs; long, skinny fingers and toes (arachnodactyly); multiple joint deformities present at birth (congenital contractures), usually of the elbows, knees, hips, fingers and ankles; "crumpled"-looking ears, and curvature of the spine (kyphoscoliosis). Other features might also be present and vary from person to person. CCA is caused by mutations in a gene called FBN2 gene and is inherited in an autosomal dominant pattern. CCA shares similiar signs and symptoms to Marfan syndrome; however, Marfan syndrome is not caused by mutations in the FBN2 gene.
What causes Congenital contractural arachnodactyly ? 
 What causes congenital contractural arachnodactyly? Congenital contractural arachnodactyly is caused by mutations in the FBN2 gene. The FBN2 gene provides instructions for producing the fibrillin-2 protein. Fibrillin-2 binds to other proteins and molecules to form threadlike filaments called microfibrils. Microfibrils become part of the fibers that provide strength and flexibility to connective tissue. Additionally, microfibrils hold molecules called growth factors and release them at the appropriate time to control the growth and repair of tissues and organs throughout the body. A mutation in the FBN2 gene can reduce the amount and/or quality of fibrillin-2 that is available to form microfibrils. As a result, decreased microfibril formation weakens the elastic fibers and allows growth factors to be released inappropriately, causing tall stature, deformities of the fingers and toes, and other characteristic features of congenital contractural arachnodactyly.
Is Congenital contractural arachnodactyly inherited ? 
 How is congenital contractural arachnodactyly inherited? This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from an affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
What are the treatments for Congenital contractural arachnodactyly ? 
 How might congenital contractural arachnodactyly be treated? Physical therapy for joint contractures helps increase joint mobility and ameliorate the effects of muscle hypoplasia (usually in the calf muscles). In severe cases, surgical release may be necessary. Since the kyphosis/scoliosis tends to be progressive, bracing and/or surgical correction is often needed. Consultation with an orthopedist is encouraged. Other symptoms, if present, should be addressed as they arise and in the standard manner. Regular physician visits should be scheduled to monitor symptom progression and development.
What are the symptoms of Pellagra like syndrome ? 
 What are the signs and symptoms of Pellagra like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pellagra 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) Aminoaciduria 90% Dry skin 90% Nystagmus 90% Skin rash 90% Urticaria 90% Abnormality of movement 50% Cataract 50% Cognitive impairment 50% Diplopia 50% Muscular hypotonia 50% Neurological speech impairment 50% Reduced consciousness/confusion 50% Short stature 50% Ataxia - Autosomal recessive inheritance - Confusion - Dysarthria - 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.