Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Dermatoosteolysis Kirghizian type ? 
 What are the signs and symptoms of Dermatoosteolysis Kirghizian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatoosteolysis Kirghizian type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal diaphysis morphology 90% Abnormality of temperature regulation 90% Abnormality of the fingernails 90% Abnormality of the metaphyses 90% Abnormality of the toenails 90% Abnormality of the wrist 90% Aplasia/Hypoplasia of the skin 90% Arthralgia 90% Brachydactyly syndrome 90% Inflammatory abnormality of the eye 90% Nyctalopia 90% Osteoarthritis 90% Osteolysis 90% Reduced number of teeth 90% Scoliosis 90% Skin ulcer 90% Tarsal synostosis 90% Upper limb phocomelia 90% Ankle swelling - Autosomal recessive inheritance - Blindness - Broad foot - Fever - Flexion contracture - Infantile onset - Joint contracture of the hand - Keratitis - Nail dysplasia - Nail dystrophy - Oligodontia - Split hand - 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) Larsen syndrome ? 
 Larsen syndrome is a condition that causes abnormal development of the bones. Signs and symptoms may include clubfoot and numerous joint dislocations at birth (affecting the hips, knees and elbows); flexible joints; and a distinctive appearance of the face, hands and feet. Larsen syndrome is inherited in an autosomal dominant manner and is caused by mutations in the FLNB gene. Management may include surgeries (especially for hip dislocation), and physiotherapy.
Is Larsen syndrome inherited ? 
 How is Larson syndrome inherited? Larson syndrome is inherited in an autosomal dominant manner. A condition is autosomal dominant when having one copy of the changed (mutated) gene in each cell is enough to cause signs or symptoms of the condition. In some cases, an affected person inherits the mutation from one affected parent; in other cases, a new mutation occurs for the first time in the affected person. While some authors have suggested autosomal recessive inheritance in families with affected siblings and unaffected parents, it was found that some of these children were affected due to germline mosaicism. This means that multiple siblings in a family inherited a disease-causing mutation from an unaffected parent who had the mutation in some or all of their egg or sperm cells only (not other body cells). This can cause a condition to appear autosomal recessive. Also, some other conditions with autosomal recessive inheritance and symptoms that overlap with Larsen syndrome have been diagnosed as Larsen syndrome, but are now mostly considered different conditions. These conditions are usually more severe and due to mutations in different genes.
What are the symptoms of Cardiocranial syndrome ? 
 What are the signs and symptoms of Cardiocranial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardiocranial syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Craniosynostosis 90% Dolichocephaly 90% External ear malformation 90% Hypertelorism 90% Laryngomalacia 90% Low-set, posteriorly rotated ears 90% Short stature 90% Tracheomalacia 90% Trismus 90% Abnormal localization of kidney 50% Atria septal defect 50% Camptodactyly of finger 50% Cryptorchidism 50% Exaggerated cupid's bow 50% Hypoplasia of penis 50% Limitation of joint mobility 50% Polyhydramnios 50% Ptosis 50% Tetralogy of Fallot 50% Vesicoureteral reflux 50% Renal hypoplasia/aplasia 7.5% Ventricular septal defect 7.5% Abnormality of cardiovascular system morphology - Abnormality of the tracheobronchial system - Autosomal recessive inheritance - Growth delay - Intellectual disability - Micropenis - Microphallus - Sagittal craniosynostosis - 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 Hawkinsinuria ? 
 What are the signs and symptoms of Hawkinsinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Hawkinsinuria. 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% Fine hair 90% Muscular hypotonia 50% Hypothyroidism 7.5% 4-Hydroxyphenylacetic aciduria - 4-Hydroxyphenylpyruvic aciduria - Autosomal dominant inheritance - Failure to thrive - Hypertyrosinemia - Metabolic acidosis - 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) Eisenmenger syndrome ? 
 Eisenmenger syndrome is a rare progressive heart condition caused by a structural error in the heart, typically a "hole in the heart" (ventricular septal defect) present at birth (congenital heart defect). This causes abnormal blood flow in the heart, resulting in high pressure within the pulmonary artery, the main blood vessel that connects the heart to the lungs (pulmonary hypertension).
What are the symptoms of Eisenmenger syndrome ? 
 What are the signs and symptoms of Eisenmenger syndrome? Symptoms of Eisenmenger include shortness of breath, chest pain, feeling tired or dizzy, fainting, abnormal heart rhythm (arrhythmia), stroke, coughing up blood, swelling of joints from excess uric acid (gout) and, bluish lips, fingers, toes, and skin (cyanosis). Eisenmenger syndrome usually develops before a child reaches puberty but can also develop in young adulthood.
What causes Eisenmenger syndrome ? 
 What causes Eisenmenger syndrome? Eisenmenger syndrome is caused by a defect in the heart. Most often, the defect is one called a ventricular septal defect (VSD), a hole between the two pumping chambers (the left and right ventricles) of the heart. Other heart defects that can lead to Eisenmenger syndrome include atrial septal defect (ASD) and patent ductus arteriosus (PDA).  The hole allows blood that has already picked up oxygen from the lungs to flow abnormally back into the lungs, instead of going out to the rest of the body. Over time, this increased blood flow can damage the small blood vessels in the lungs. This causes high blood pressure in the lungs. As a result, the blood backs up and does not go to the lungs to pick up oxygen. Instead, the blood goes from the right side to the left side of the heart, and oxygen-poor blood travels to the rest of the body.
What are the treatments for Eisenmenger syndrome ? 
 How might Eisenmenger syndrome be treated? Older children with symptoms of Eisenmenger syndrome may have blood removed from the body (phlebotomy) to reduce the number of red blood cells, and then receive fluids to replace the lost blood (volume replacement). Children may receive oxygen, although it is unclear whether it helps to prevent the disease from getting worse. Children with very severe symptoms may need a heart-lung transplant. Adult patients with Eisenmenger syndrome should be seen by a cardiologist specializing in the care of adults with congenital heart disease.
What are the symptoms of Osteogenesis imperfecta type VII ? 
 What are the signs and symptoms of Osteogenesis imperfecta type VII? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type VII. 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) Absent pulmonary artery - Autosomal recessive inheritance - Blue sclerae - Bowing of the legs - Breech presentation - Coxa vara - Crumpled long bones - Death in infancy - Decreased calvarial ossification - Delayed cranial suture closure - Externally rotated/abducted legs - Hydronephrosis - Hypoplastic pulmonary veins - Long philtrum - Micromelia - Multiple prenatal fractures - Multiple rib fractures - Narrow chest - Osteopenia - Pectus excavatum - Proptosis - Protrusio acetabuli - Recurrent fractures - Rhizomelia - Round face - Scoliosis - Vertebral compression fractures - Wide anterior fontanel - Wide cranial sutures - 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 Preaxial polydactyly type 4 ? 
 What are the signs and symptoms of Preaxial polydactyly type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial polydactyly type 4. 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) 1-5 toe syndactyly - 3-4 finger syndactyly - Abnormality of earlobe - Autosomal dominant inheritance - Dysplastic distal thumb phalanges with a central hole - Preaxial polydactyly - 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 Chromosome 19q13.11 deletion syndrome ? 
 What are the signs and symptoms of Chromosome 19q13.11 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 19q13.11 deletion 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) Clinodactyly of the 5th finger 90% Cognitive impairment 90% Decreased body weight 90% Displacement of the external urethral meatus 90% Intrauterine growth retardation 90% Microcephaly 90% Neurological speech impairment 90% Abnormal hair quantity 50% Abnormality of the eyelashes 50% Abnormality of the fingernails 50% Aplasia/Hypoplasia of the eyebrow 50% Broad columella 50% Cryptorchidism 50% Dry skin 50% Fine hair 50% Finger syndactyly 50% High forehead 50% Long face 50% Overlapping toe 50% Recurrent respiratory infections 50% Supernumerary nipple 50% Thin skin 50% Thin vermilion border 50% Toe syndactyly 50% Underdeveloped nasal alae 50% Abnormality of the hip bone 7.5% Bifid scrotum 7.5% Cataract 7.5% Hearing impairment 7.5% Microcornea 7.5% Ventricular septal defect 7.5% Wide mouth 7.5% Cutaneous finger syndactyly - Decreased subcutaneous fat - Failure to thrive - Feeding difficulties in infancy - Hypospadias - Intellectual disability - Low-set ears - Macrotia - Nail dysplasia - Postnatal growth retardation - Retrognathia - Short stature - Single umbilical artery - Sparse eyebrow - Sparse eyelashes - Sporadic - Wide intermamillary distance - 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) Yellow nail syndrome ? 
 Yellow nail syndrome is characterized by yellow nails that lack a cuticle, grow slowly, and are loose or detached (onycholysis). Yellow nail syndrome is often associated with diseases of the lung or lymphedema.  Yellow nail syndrome often affects older adults, though it can occur at any age.  While the exact cause of this condition is unknown, it has been shown to run in some families, which suggests that there may be a genetic component in some cases.  Unfortunately, there is no cure for this condition, but there are therapies available to treat the related lung diseases and lymphedema.
What are the symptoms of Yellow nail syndrome ? 
 What are the signs and symptoms of Yellow nail syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Yellow nail 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) Abnormality of nail color 90% Abnormality of the bronchi 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Lymphedema 90% Abnormality of the pleura 50% Recurrent respiratory infections 50% Respiratory insufficiency 50% Sinusitis 50% Neoplasm 7.5% Abnormality of the musculature - Autosomal dominant inheritance - Hypoplasia of lymphatic vessels - Predominantly lower limb lymphedema - Slow-growing nails - Yellow nails - 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 Yellow nail syndrome ? 
 Has a genetic cause of familial yellow nail syndrome been discovered? The exact cause of yellow nail syndrome remains unclear.  There have been reports of several members in the same family being affected with this condition and also reports of children being affected at young ages.  These reports have been used to suggest the possibility a genetic component to yellow nail syndrome.  However, the possibility of a genetic cause for yellow nail syndrome remains a subject of debate, as most cases of this condition occur by chance in individuals who do not have a family history of this condition.  Unfortunately, because there are so few cases of familial yellow nail syndrome, there is limited information and currently no known research about possible genetic causes.
What are the treatments for Yellow nail syndrome ? 
 How are the respiratory conditions associated with yellow nail syndrome treated? You can find further information on treatment of pleural effusions, bronchitis, sinusitis, and pneumonia at the following links to MedlinePlus.gov, the National Library of Medicine Web site designed to help you research your health questions. Pleural effusions: http://www.nlm.nih.gov/medlineplus/ency/article/000086.htm Bronchitis: http://www.nlm.nih.gov/medlineplus/chronicbronchitis.html Sinusitis: http://www.nlm.nih.gov/medlineplus/sinusitis.html Pneumonia: http://www.nlm.nih.gov/medlineplus/pneumonia.html
What are the symptoms of Early infantile epileptic encephalopathy 25 ? 
 What are the signs and symptoms of Early infantile epileptic encephalopathy 25? The Human Phenotype Ontology provides the following list of signs and symptoms for Early infantile epileptic encephalopathy 25. 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) Epileptic encephalopathy - Muscular hypotonia of the trunk - Status epilepticus - 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) Prader-Willi habitus, osteopenia, and camptodactyly ? 
 Prader-Willi habitus, osteopenia, and camptodactyly syndrome is characterized by intellectual disability, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has only been described in two brothers and in one isolated case in a different family. Other symptoms included unusual face, deformity of the spinal column, osteoporosis and a history of frequent fractures. It is similar to Prader-Willi syndrome, but the authors concluded that it is a different condition. The cause was unknown in the reported cases.