Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Ollier disease ? 
 What are the signs and symptoms of Ollier disease? Clinical manifestations in Ollier disease often appear in the first decade of life and usually start with the appearance of palpable bony masses on a finger or a toe, an asymetric shortening of an extremity with limping, and skeletal deformities which may be associated with pathologic fractures. Enchondromas frequently affect the long tubular bones, particularly the tibia, the femur, and/or the fibula; flat bones, especially the pelvis, can also be affected. The lesions may affect multiple bones and are usually asymetrically distributed, exclusively or predominantly affecting one side of the body. Affected bones are often shortened and deformed. Indeed, bone shortening may be the only clinical sign of the disease. These bone shortenings are often associated with bone bending and curving, and may lead to limitations in articular movement. Forearm deformities are frequently encountered. In childhood, the lesions are subjected to pathologic fractures. The Human Phenotype Ontology provides the following list of signs and symptoms for Ollier 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) Abnormality of the metaphyses 90% Cavernous hemangioma 90% Micromelia 90% Osteolysis 90% Visceral angiomatosis 90% Bone pain 50% Limitation of joint mobility 50% Abnormality of coagulation 7.5% Anemia 7.5% Lymphangioma 7.5% Ovarian neoplasm 7.5% Platyspondyly 7.5% Precocious puberty 7.5% Skin ulcer 7.5% Thrombophlebitis 7.5% Chondrosarcoma - Multiple enchondromatosis - 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 Ollier disease ? 
 What causes Ollier disease? The exact cause of Ollier disease is not known. It is usually a sporadic, non-familial disorder, however, in some cases, it may be inherited as an autosomal dominant genetic trait.
What are the treatments for Ollier disease ? 
 How might Ollier disease be treated? There is no specific medical treatment for Ollier disease. Surgery is indicated in cases where complications (pathological fractures, growth defect, malignant transformation) arise.
What are the symptoms of Severe combined immunodeficiency, atypical ? 
 What are the signs and symptoms of Severe combined immunodeficiency, atypical? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe combined immunodeficiency, atypical. 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 - Diarrhea - Eczematoid dermatitis - Failure to thrive - Hepatomegaly - Panhypogammaglobulinemia - Pneumonia - Recurrent candida infections - 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 symptoms of ADULT syndrome ? 
 What are the signs and symptoms of ADULT syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for ADULT 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 the eye 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Dry skin 90% Fine hair 90% Finger syndactyly 90% Freckling 90% Melanocytic nevus 90% Skin ulcer 90% Split foot 90% Thin skin 90% Toe syndactyly 90% Abnormality of dental morphology 50% Aplasia/Hypoplasia of the nipples 50% Breast aplasia 50% Prominent nasal bridge 7.5% Absent nipple - Adermatoglyphia - Autosomal dominant inheritance - Breast hypoplasia - Conjunctivitis - Cutaneous photosensitivity - Dermal atrophy - Ectodermal dysplasia - Eczema - Fair hair - Hypodontia - Hypoplastic nipples - Microdontia - Nail pits - Nasolacrimal duct obstruction - Oligodontia - Oral cleft - Premature loss of permanent teeth - Sparse axillary hair - Sparse scalp hair - Split hand - 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) Proteus syndrome ? 
 Proteus syndrome is characterized by excessive growth of a part or portion of the body. The overgrowth can cause differences in appearance and with time, an increased risk for blood clots and tumors. It is caused by a change (mutation) in the AKT1 gene. It is not inherited, but occurs as a random mutation in a body cell in a developing baby (fetus) early in pregnancy. The AKT1 gene mutation affects only a portion of the body cells. This is why only a portion of the body is affected and why individuals with Proteus syndrome can be very differently affected. Management of the condition often requires a team of specialists with knowledge of the wide array of features and complications of this condition.
What causes Proteus syndrome ? 
 What causes Proteus syndrome? Proteus syndrome is caused by mutations in the AKT1 gene. This genetic change is not inherited from a parent; it arises randomly in one cell during the early stages of development before birth. As cells continue to grow and divide, some cells will have the mutation and others will not. This mixture of cells with and without a genetic mutation is known as mosaicism. The AKT1 gene helps regulate cell growth and division. (proliferation) and cell death. A mutation in this gene disrupts a cell's ability to regulate its own growth, allowing it to grow and divide abnormally. Increased cell proliferation in various tissues and organs leads to the abnormal growth characteristics of Proteus syndrome. Studies suggest that AKT1 gene mutations are more common in groups of cells that experience overgrowth than in the parts of the body that grow normally.
What are the symptoms of Spondyloepimetaphyseal dysplasia joint laxity ? 
 What are the signs and symptoms of Spondyloepimetaphyseal dysplasia joint laxity? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia joint laxity. 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 bone mineral density 90% Abnormality of the metaphyses 90% Blue sclerae 90% Brachydactyly syndrome 90% Elbow dislocation 90% Hyperextensible skin 90% Joint hypermobility 90% Kyphosis 90% Long philtrum 90% Micromelia 90% Platyspondyly 90% Proptosis 90% Scoliosis 90% Short stature 90% Short toe 90% Talipes 90% Genu valgum 80% Abnormal vertebral ossification 50% Cleft palate 50% Hyperlordosis 50% High palate 12% Abnormality of the cardiac septa 7.5% Aganglionic megacolon 7.5% Cognitive impairment 7.5% Ectopia lentis 7.5% Exostoses 7.5% Myopia 7.5% Carpal synostosis 5% 11 pairs of ribs - Advanced ossification of carpal bones - Atria septal defect - Autosomal recessive inheritance - Bicuspid aortic valve - Broad distal phalanx of finger - Congenital myopia - Coxa valga - Cupped ribs - Decreased body weight - Delayed proximal femoral epiphyseal ossification - Dislocated radial head - Flared iliac wings - Flared metaphysis - Flaring of rib cage - Flat face - Flat midface - Flexion contracture - Fragile skin - Hallux valgus - Hip dislocation - Hip Subluxation - Hypoplastic iliac body - Irregular vertebral endplates - Joint laxity - Kyphoscoliosis - Large iliac wings - Long upper lip - Malar flattening - Mitral regurgitation - Muscular hypotonia - Osteoporosis - Oval face - Ovoid vertebral bodies - Paraplegia - Pathologic fracture - Pes planus - Prominent forehead - Radial bowing - Radial head subluxation - Severe short stature - Short femoral neck - Short long bone - Short metacarpal - Short nail - Short neck - Slender long bone - Soft, doughy skin - Sparse scalp hair - Spinal cord compression - Spondyloepimetaphyseal dysplasia - Talipes equinovarus - 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 Say-Field-Coldwell syndrome ? 
 What are the signs and symptoms of Say-Field-Coldwell syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Say-Field-Coldwell 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 the nose 90% Brachydactyly syndrome 90% Camptodactyly of finger 90% Cognitive impairment 90% Preaxial hand polydactyly 90% Short stature 90% Triphalangeal thumb 90% Autosomal dominant inheritance - Recurrent patellar dislocation - 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 Slipped capital femoral epiphysis ? 
 What are the signs and symptoms of Slipped capital femoral epiphysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Slipped capital femoral epiphysis. 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 - Hip osteoarthritis - Proximal femoral epiphysiolysis - 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) Rabson-Mendenhall syndrome ? 
 Rabson-Mendenhall syndrome is a genetic disorder characterized by severe insulin resistance. Insulin, a hormone produced by the pancreas, regulates blood sugar levels by promoting the movement of glucose into cells for energy production or into the liver and fat cells for storage. Symptoms of Rabson-Mendenhall syndrome may include intrauterine and postnatal growth retardation, hypertrophy of muscle and fat tissues, abnormalities of the head and face, abnormalities of the teeth and nails, and skin abnormalities such as acanthosis nigricans. Additional symptoms may also be present. Rabson-Mendenhall syndrome is inherited in an autosomal recessive manner. Treatment is difficult and may include high doses of insulin and/or recombinant insulin-like growth factor.
What are the symptoms of Rabson-Mendenhall syndrome ? 
 What are the signs and symptoms of Rabson-Mendenhall syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rabson-Mendenhall 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 the abdominal wall 90% Abnormality of the fingernails 90% Acanthosis nigricans 90% Advanced eruption of teeth 90% Coarse facial features 90% Congenital, generalized hypertrichosis 90% Diabetes mellitus 90% Female pseudohermaphroditism 90% Growth hormone excess 90% Intrauterine growth retardation 90% Long penis 90% Mandibular prognathia 90% Abnormality of the thyroid gland 50% Brachydactyly syndrome 50% Coarse hair 50% Dry skin 50% Peripheral neuropathy 50% Precocious puberty 50% Prematurely aged appearance 50% Proteinuria 50% Short stature 50% Abnormality of the upper urinary tract 7.5% Polycystic ovaries 7.5% Autosomal recessive inheritance - Clitoromegaly - Diabetic ketoacidosis - Fasting hypoglycemia - High palate - Hyperglycemia - Hyperinsulinemia - Hypertrichosis - Hypoglycemia - Insulin-resistant diabetes mellitus - Onychauxis - Small for gestational age - 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) Branchiooculofacial syndrome ? 
 Branchiooculofacial syndrome (BOFS) is a very rare genetic disorder that is apparent at birth. Only about 50 cases of BOFS had been reported in the medical literature. Like its name implies, BOFS is characterized by skin defects, eye abnormalities, and distinctive facial features. Among the reported cases thus far, the symptoms may vary from mild to severe. BOFS is caused by mutations in the TFAP2A gene and inherited as an autosomal dominant trait.
Is Branchiooculofacial syndrome inherited ? 
 How is branchiooculofacial syndrome (BOFS) inherited? Although some cases can be sporadic, most of the reported cases are inherited within families. BOFS is inherited in an autosomal dominant pattern, which means that one copy of the altered TFAP2A gene in each cell is sufficient to cause this condition.
How to diagnose Branchiooculofacial syndrome ? 
 How is branchiooculofacial syndrome (BOFS) diagnosed? BOFS can be diagnosed clinically based on the characteristic features of this condition. Genetic testing can also confirm the diagnosis. GeneTests lists the names of laboratories that are performing genetic testing for branchiooculofacial syndrome. To view the contact information for the clinical laboratories conducting testing, click here. To access the contact information for the research laboratories performing genetic testing, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
What is (are) Hyperparathyroidism-jaw tumor syndrome ? 
 Hyperparathyroidism-jaw tumor syndrome is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism), which regulate the body's use of calcium. In people with this condition, hyperparathyroidism is caused by benign tumors (adenomas) that form in the parathyroid glands. About 15 percent of people with this condition develop a cancerous tumor called parathyroid carcinoma. About 25 to 50 percent of affected individuals can also develop a benign tumor called a fibroma in the jaw. Other benign or cancerous tumors can also develop, including tumors of the uterus in women; benign kidney cysts; and rarely, Wilms tumor. This condition is caused by mutations in the CDC73 gene and is inherited in an autosomal dominant fashion.
What are the symptoms of Hyperparathyroidism-jaw tumor syndrome ? 
 What are the signs and symptoms of Hyperparathyroidism-jaw tumor syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperparathyroidism-jaw tumor 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 the head - Autosomal dominant inheritance - Hamartoma - Hurthle cell thyroid adenoma - Hypercalcemia - Hyperparathyroidism - Nephroblastoma (Wilms tumor) - Nephrolithiasis - Pancreatic adenocarcinoma - Papillary renal cell carcinoma - Parathyroid adenoma - Parathyroid carcinoma - Polycystic kidney dysplasia - Recurrent pancreatitis - Renal cortical adenoma - 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) Neonatal progeroid syndrome ? 
 Neonatal progeroid syndrome is a rare genetic syndrome characterized by an aged appearance at birth. Other signs and symptoms include intrauterine growth restriction, feeding difficulties, distinctive craniofacial features, hypotonia, developmental delay and mild to severe intellectual disability. In most cases, affected infants pass away before age 7 months, but rare reports exist of survival into the teens or early 20s. Although the exact underlying cause of neonatal progeroid syndrome is unknown, it is likely a genetic condition that is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive.
What causes Neonatal progeroid syndrome ? 
 What causes neonatal progeroid syndrome? The exact underlying cause of neonatal progeroid syndrome is unknown. Scientists suspect that it is a genetic condition; however, a disease-causing gene has not been identified.
Is Neonatal progeroid syndrome inherited ? 
 Is neonatal progeroid syndrome inherited? Although the underlying genetic cause of neonatal progeroid syndrome is unknown, studies suggest that it is likely inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
How to diagnose Neonatal progeroid syndrome ? 
 How is neonatal progeroid syndrome diagnosed? A diagnosis of neonatal progeroid syndrome is made based on the presence of characteristic signs and symptoms. Rarely, a diagnosis may be suspected before birth if concerning features are viewed on ultrasound; however, most cases are diagnosed shortly after birth.