bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Cleft palate stapes fixation oligodontia? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft palate stapes fixation oligodontia. 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 ankles 90% Cleft palate 90% Conductive hearing impairment 90% Tarsal synostosis 90% Telecanthus 90% Abnormality of the wrist 50% Autosomal recessive inheritance - Bilateral conductive hearing impairment - Cleft soft palate - No permanent dentition - Oligodontia of primary teeth - Sandal gap - Short hallux - 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.
Hairy cell leukemia is a rare, slow-growing cancer of the blood in which the bone marrow makes too many B cells (lymphocytes), a type of white blood cell that fights infection. The condition is named after these excess B cells which look 'hairy' under a microscope. As the number of leukemia cells increases, fewer healthy white blood cells, red blood cells and platelets are produced. The underlying cause of this condition is unknown. While there is no cure, treatment can lead to remission which can last for years.
Majeed syndrome is characterized by recurrent episodes of fever and inflammation in the bones and skin. The two main features of this condition are chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia (CDA). CRMO causes recurrent episodes of pain and joint swelling which can lead to complications such as slow growth and the development of joint deformities called contractures. CDA involves a shortage of red blood cells which can lead to fatigue (tiredness), weakness, pale skin, and shortness of breath. Most people with Majeed syndrome also develop inflammatory disorders of the skin, most often a condition known as Sweet syndrome. Majeed syndrome results from mutations in the LPIN2 gene. This condition is inherited in an autosomal recessive pattern.
What are the signs and symptoms of Majeed syndrome? Majeed syndrome is characterized by recurrent episodes of fever and inflammation in the bones and skin. There are two main features of Majeed syndrome: Chronic recurrent multifocal osteomyelitis (CRMO), an inflammatory bone condition which causes recurrent episodes of pain and joint swelling. These symptoms begin in infancy or early childhood and typically persist into adulthood, although there may be short periods of improvement. CRMO can lead to complications such as slow growth and the development of joint deformities called contractures, which restrict the movement of certain joints. Congenital dyserythropoietic anemia is a blood disorder which involve a shortage of red blood cells. Without enough of these cells, the blood cannot carry an adequate supply of oxygen to the body's tissues. The resulting symptoms can include tiredness (fatigue), weakness, pale skin, and shortness of breath. Complications of congenital dyserythropoietic anemia can range from mild to severe. Most people with Majeed syndrome also develop inflammatory disorders of the skin, most often a condition known as Sweet syndrome. The symptoms of Sweet syndrome include fever and the development of painful bumps or blisters on the face, neck, back, and arms. The Human Phenotype Ontology provides the following list of signs and symptoms for Majeed 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 temperature regulation 90% Abnormality of the metaphyses 90% Arthralgia 90% Bone pain 90% Microcytic anemia 90% Osteomyelitis 90% Pustule 90% Skin rash 90% Weight loss 90% Acne 50% Arthritis 50% Edema 50% Hepatomegaly 50% Hyperostosis 50% Leukocytosis 50% Migraine 50% Myalgia 50% Splenomegaly 50% Abnormal blistering of the skin 7.5% Abnormality of bone mineral density 7.5% Flexion contracture 7.5% Glomerulopathy 7.5% Hematuria 7.5% Inflammatory abnormality of the eye 7.5% Malabsorption 7.5% Proteinuria 7.5% Pulmonary infiltrates 7.5% Recurrent fractures 7.5% Vasculitis 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 causes Majeed syndrome? Majeed syndrome is caused by mutations in the LPIN2 gene. This gene provides instructions for making a protein called lipin-2. Researchers believe that this protein may play a role in the processing of fats. It may also be involved in controlling inflammation and play a role in cell division. Mutations in the LPIN2 gene alter the structure and function of lipin-2. It is unclear how these genetic changes lead to bone disease, anemia, and inflammation of the skin in people with Majeed syndrome.
How might Majeed syndrome be treated? Treatment is based upon the symptoms present. Chronic recurrent multifocal osteomyelitis (CRMO) is treated with nonsteroidal anti-inflammatory drugs (NSAIDs) and physical therapy to avoid disuse atrophy of muscles and contractures. If CRMO does not respond to NSAIDs, corticosteroids can be used short term to control CRMO and skin manifestations. Resolution of bone inflammation has been reported in at least two children who were treated with an IL-1 inhibitor. Congenital dyserythropoietic anemia (CDA) may be treated with red blood cell transfusion.
Atypical hemolytic-uremic syndrome (aHUS) is a disease that causes abnormal blood clots to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow, including hemolytic anemia, thrombocytopenia, and kidney failure. It can occur at any age and is often caused by a combination of environmental and genetic factors. Genetic factors involve genes that code for proteins that help control the complement system (part of your bodys immune system). Environmental factors include certain medications (such as anticancer drugs), chronic diseases (e.g., systemic sclerosis and malignant hypertension), viral or bacterial infections, cancers, organ transplantation, and pregnancy.  Most cases are sporadic. Less than 20 percent of all cases have been reported to run in families. When the disorder is familial, it can have an autosomal dominant or an autosomal recessive pattern of inheritance. Atypical hemolytic-uremic syndrome differs from a more common condition called typical hemolytic-uremic syndrome. The two disorders have different causes and different signs and symptoms.
What are the signs and symptoms of Atypical hemolytic uremic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Atypical hemolytic uremic 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) Acute kidney injury - Anuria - Autosomal dominant inheritance - Autosomal recessive inheritance - Cognitive impairment - Coma - Decreased serum complement C3 - Decreased serum complement factor B - Decreased serum complement factor H - Decreased serum complement factor I - Diarrhea - Dysphasia - Elevated serum creatinine - Fever - Hemiparesis - Hemolytic-uremic syndrome - Hyperlipidemia - Hypertension - Increased blood urea nitrogen (BUN) - Microangiopathic hemolytic anemia - Purpura - Reticulocytosis - Schistocytosis - Seizures - Thrombocytopenia - 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 genetic testing available for atypical hemolytic-uremic syndrome? GeneTests lists the names of laboratories that are performing genetic testing for atypical hemolytic-uremic syndrome. To view the contact information for the clinical laboratories conducting testing click here and follow the "testing" link pertaining to each gene. 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.  In the Genetic Services section of this letter we provide a list of online resources that can assist you in locating a genetics professional near you.
Crusted scabies (also called Norwegian scabies) is a severe form of scabies that most often occurs in people who have a weakened immune system, neurological disease, the elderly, the disabled, or those who are mentally incapacitated. It is characterized by thick crusts of skin that contain large numbers of scabies mites and eggs. The usual features of scabies (itching and a rash) are often absent. Crusted scabies  is very contagious and can spread easily both by direct skin-to-skin contacts and through contaminated items such as clothing, bedding, and furniture. People with crusted scabies should receive quick and agressive medical treatment for their infestation to prevent outbreaks of scabies. Ivermectin is commonly used to treat this form of scabies.
What are the signs and symptoms of Urocanase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Urocanase 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) Nystagmus 5% Aggressive behavior - Ataxia - Autosomal recessive inheritance - Blue irides - Fair hair - Intellectual disability, progressive - Intellectual disability, severe - Short stature - Tremor - Urocanic aciduria - 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.
Acromegaly is a hormonal disorder that results from the pituitary gland producing too much growth hormone (GH). It is most often diagnosed in middle-aged adults, although symptoms can appear at any age. Signs and symptoms include abnormal growth and swelling of the hands and feet; bone changes that alter various facial features; arthritis; carpal tunnel syndrome; enlargement of body organs; and various other symptoms. The condition is usually caused by benign tumors on the pituitary called adenomas. Rarely, it is caused by tumors of the pancreas, lungs, and other parts of the brain. Acromegaly is usually treatable but when left untreated, it can result in serious illness and premature death. When GH-producing tumors occur in childhood, the disease that results is called gigantism rather than acromegaly.
What are the signs and symptoms of Acromegaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Acromegaly. 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% Abnormality of the tongue 90% Anterior hypopituitarism 90% Arthralgia 90% Broad foot 90% Broad forehead 90% Coarse facial features 90% Deep palmar crease 90% Deep plantar creases 90% Full cheeks 90% Hyperhidrosis 90% Joint swelling 90% Macrodactyly of finger 90% Mandibular prognathia 90% Osteoarthritis 90% Tall stature 90% Thick lower lip vermilion 90% Abnormality of the fingernails 50% Abnormality of the menstrual cycle 50% Abnormality of the teeth 50% Abnormality of the toenails 50% Abnormality of the voice 50% Apnea 50% Behavioral abnormality 50% Cerebral palsy 50% Diabetes mellitus 50% Frontal bossing 50% Hypertension 50% Kyphosis 50% Migraine 50% Neoplasm of the endocrine system 50% Palpebral edema 50% Paresthesia 50% Spinal canal stenosis 50% Synophrys 50% Abnormal renal physiology 7.5% Abnormality of reproductive system physiology 7.5% Abnormality of the mitral valve 7.5% Acanthosis nigricans 7.5% Acne 7.5% Erectile abnormalities 7.5% Galactorrhea 7.5% Generalized hyperpigmentation 7.5% Hypertrophic cardiomyopathy 7.5% Reduced consciousness/confusion 7.5% Autosomal dominant inheritance - Cardiomyopathy - Growth hormone excess - Increased serum insulin-like growth factor 1 {comment="HPO:probinson"} - Left ventricular hypertrophy - Menstrual irregularities - Pituitary adenoma - Pituitary growth hormone cell adenoma - Pituitary prolactin cell adenoma - Prolactin excess - Somatic mutation - 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.
Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). The condition is caused by mutations in the GJA1 gene. Most cases are inherited in an autosomal dominant pattern. Some cases are caused by a new mutation in the gene. A small number of cases follow an autosomal recessive pattern of inheritance. Management is multidisciplinary and based on specific symptoms. Early diagnosis is critical for prevention and treatment.
Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain. The condition may cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, drug toxicity and deficiency of vitamin B-12. Vision often returns to normal within 2-3 weeks without treatment. In some cases, corticosteroids are given to speed recovery. If known, the underlying cause should be treated.
How is optic neuritis diagnosed? The diagnosis of optic neuritis is usually based on clinical findings and ophthalmologic examination. A careful history, including information about recent illness, fever, or immunizations is helpful. An eye exam should be conducted with assessment of visual acuity, pupil reactions, color vision and peripheral vision. The optic nerve should be examined with ophthalmoscopy for inflammation and swelling. Additional tests may include MRI of the brain, spinal tap and blood tests.
The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. Their mother, maternal aunt, and maternal grandmother were also found to have the syndrome. The signs and symptoms varied from person to person; however, the signs and symptoms included coronal craniosynostosis, small middle part of the face (midfacial hypoplasia), and short fingers (brachydactyly). The inheritance is thought to be autosomal dominant. No genes have been identified for this syndrome. Treatment included surgery to correct the craniosynostosis. No issues with development and normal intelligence were reported.
What are the signs and symptoms of Glass-Chapman-Hockley syndrome? Glass-Chapman-Hockley syndrome has only been described in one family with five affected family members in three generations. The signs and symptoms seen in the five affected family members varied, but included the following: Premature or early growing together or fusing of the coronal suture. The coronal suture is found between the parts of the skull called the frontal bone and the two parietal bones. Forehead tends to be recessed and flattened.  Eye socket is elevated and tilted with protruding eyes.  Nose slants to one side.  Very small fingers (brachydactyl). The Human Phenotype Ontology provides the following list of signs and symptoms for Glass-Chapman-Hockley 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 distal phalanx of finger 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Craniosynostosis 90% Frontal bossing 90% Malar flattening 90% Tapered finger 90% 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.
Precocious puberty is when a person's sexual and physical traits develop and mature earlier than normal. Normal puberty typically begins between ages 10 and 14 for girls, and ages 12 and 16 for boys. The start of puberty depends on various factors such as family history, nutrition and gender. The cause of precocious puberty is not always known. Some cases of precocious puberty are due to conditions that cause changes in the body's release of hormones. Treatment involves medications that can stop the release of sexual hormones.
What are the signs and symptoms of Precocious puberty? The Human Phenotype Ontology provides the following list of signs and symptoms for Precocious puberty. 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) Hypothyroidism 7.5% Autosomal dominant inheritance - Elevated follicle stimulating hormone - Elevated luteinizing hormone - Isosexual precocious puberty - Short stature - 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.