falan42/medcuad_data huggingface dataset:
Topic: Anonychia congenita
Question: What are the symptoms of Anonychia congenita ?
Answer: What are the signs and symptoms of Anonychia congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Anonychia congenita. 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) Anonychia - 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.
(Source: GARD)
Topic: Anonychia congenita
Question: What are the treatments for Anonychia congenita ?
Answer: How might anonychia congenita be treated? There is limited information regarding anonychia congenita because it is very rare.  After a careful review of the medical literature, we did not find any information about treatment for this condition.
(Source: GARD)
Topic: Tetra-amelia syndrome
Question: What is (are) Tetra-amelia syndrome ?
Answer: Tetra-amelia syndrome is a very rare disorder characterized by the absence of all four limbs. This syndrome can also cause severe malformations of other parts of the body, including the face and head, heart, nervous system, skeleton, and genitalia. The lungs are underdeveloped in many cases, which makes breathing difficult or impossible. Because children with tetra-amelia syndrome have such serious medical problems, most are stillborn or die shortly after birth. The condition has been associated with a mutation in the WNT3 gene in one family, and it appears to be inherited in an autosomal recessive manner.
(Source: GARD)
Topic: Tetra-amelia syndrome
Question: What are the symptoms of Tetra-amelia syndrome ?
Answer: What are the signs and symptoms of Tetra-amelia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetra-amelia 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 outer ear 90% Amelia 90% Aplasia/Hypoplasia involving the nose 90% Aplasia/Hypoplasia of the lungs 90% Hydrocephalus 90% Oral cleft 90% Polyhydramnios 90% Abnormal lung lobation 50% Abnormal vertebral ossification 50% Abnormality of the larynx 50% Abnormality of the ribs 50% Abnormality of the sense of smell 50% Aplasia/Hypoplasia of the corpus callosum 50% Aplasia/Hypoplasia of the nipples 50% Cataract 50% Cryptorchidism 50% Iris coloboma 50% Microcornea 50% Multicystic kidney dysplasia 50% Narrow mouth 50% Optic atrophy 50% Septo-optic dysplasia 50% Tracheal stenosis 50% Urogenital fistula 50% Abnormality of the diaphragm - Absent external genitalia - Adrenal gland agenesis - Anal atresia - Asplenia - Autosomal recessive inheritance - Choanal atresia - Cleft palate - Cleft upper lip - Gastroschisis - Heterogeneous - Hypoplasia of the fallopian tube - Hypoplastic pelvis - Low-set ears - Microphthalmia - Peripheral pulmonary vessel aplasia - Pulmonary hypoplasia - Renal agenesis - Single naris - Single umbilical artery - Tetraamelia - Urethral atresia - Vaginal atresia - 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.
(Source: GARD)
Topic: Tetra-amelia syndrome
Question: How to diagnose Tetra-amelia syndrome ?
Answer: How is tetra-amelia syndrome diagnosed? The diagnosis of tetra-amelia syndrome can be established clinically (based on observed features) and is usually made on a routine prenatal ultrasound. The WNT3 gene has been associated with tetra-amelia syndrome, but the mutation detection frequency (how often a mutation will be found in an affected individual) is unknown because only a limited number of families have been studied. Is genetic testing available for tetra-amelia syndrome? Genetic testing for tetra-amelia syndrome is currently available. GeneTests lists the names of laboratories that are performing genetic testing for tetra-amelia syndrome. To view the contact information for the clinical laboratories conducting 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.
(Source: GARD)
Topic: Immunodeficiency with hyper IgM type 1
Question: What is (are) Immunodeficiency with hyper IgM type 1 ?
Answer: Hyper IgM syndrome is a type of primary immunodeficiency syndrome. Primary immunodeficiency occurs when part of a persons immune system is missing or does not work correctly. The bodies of people with primary immunodeficiency cant get rid of germs or protect themselves from new germs as well as they should. Primary immunodeficiencies are inherited, meaning they are passed down from parents to children. Hyper IgM syndromes are characterized by normal or elevated serum immunoglobulin M levels with absence of immunoglobulin G, A, and E. Immunoglobulins are proteins found in the blood. Hyper IgM results in a susceptibility to bacterial infections and sometimes opportunistic infections. There are five different types of hyper IgM syndromes (types 1-5). The types are distinguished by the location of the gene mutation involved.
(Source: GARD)
Topic: Immunodeficiency with hyper IgM type 1
Question: What causes Immunodeficiency with hyper IgM type 1 ?
Answer: What causes hyper IgM syndrome? A flawed gene (or genes) in T-cells (a type of white blood cell that is part of the immune system and helps the body fight diseases or harmful substances) is responsible for hyper IgM syndrome. The faulty T-cells do not give B-cells a signal they need to switch from making IgM to IgA and IgG. Most cases (approximately 70%) of hyper-IgM syndrome are linked to a recessive mutation on the X chromosome. These cases are inherited as an X-linked recessive genetic trait. Because males do not have a second, healthy, X-chromosome to offset the disease, boys far out number girls with this disease. A small number of cases of hyper IgM syndrome have been attributed to autosomal recessive and autosomal dominant genetic inheritance. In addition, a rare acquired form of the disorder has been described in the medical literature.
(Source: GARD)
Topic: Immunodeficiency with hyper IgM type 1
Question: What are the treatments for Immunodeficiency with hyper IgM type 1 ?
Answer: How might hyper IgM syndrome be treated? The cornerstone of treatment for individuals with hyper IgM syndrome is regular injections of intravenous immunogloblulin (IVIG). This treatment not only supplies missing IgG antibodies, but also prompts a drop in IgM antibodies. Patients with neutropenia can take granulocyte colony-stimulating factor (G-CSF). Antibiotics may also be prescribed to prevent the respiratory infection, pneumocystis carinii pneumonia. Most children with hyper-IgM syndrome respond well to treatment, become symptom-free and resume normal growth.
(Source: GARD)
Topic: Presenile dementia, Kraepelin type
Question: What are the symptoms of Presenile dementia, Kraepelin type ?
Answer: What are the signs and symptoms of Presenile dementia, Kraepelin type? The Human Phenotype Ontology provides the following list of signs and symptoms for Presenile dementia, Kraepelin 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) Autosomal dominant inheritance - Dementia - 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.
(Source: GARD)
Topic: Nail dysplasia, isolated congenital
Question: What are the symptoms of Nail dysplasia, isolated congenital ?
Answer: What are the signs and symptoms of Nail dysplasia, isolated congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Nail dysplasia, isolated congenital. 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 - Concave nail - 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.
(Source: GARD)
Topic: Metaplastic carcinoma of the breast
Question: What is (are) Metaplastic carcinoma of the breast ?
Answer: Metaplastic carcinoma of the breast is a rare form of breast cancer. The tumor cells differ in type from that of the typical ductal or lobular breast cancers. The cells look like skin cells or cells that make bone. Some women experience no early signs or symptoms, while others experience general symptoms of breast cancers, such as new breast lumps. Treatment of metaplastic carcinoma of the breast is similar to that of invasive ductal cancer.
(Source: GARD)
Topic: Polyneuropathy mental retardation acromicria premature menopause
Question: What are the symptoms of Polyneuropathy mental retardation acromicria premature menopause ?
Answer: What are the signs and symptoms of Polyneuropathy mental retardation acromicria premature menopause? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyneuropathy mental retardation acromicria premature menopause. 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) Brachydactyly syndrome 90% Cognitive impairment 90% Decreased nerve conduction velocity 90% EMG abnormality 90% Gait disturbance 90% Micromelia 90% Secondary amenorrhea 90% Short stature 90% Skeletal muscle atrophy 90% Camptodactyly of finger 50% Truncal obesity 50% Ulnar deviation of finger 50% Abnormality of pelvic girdle bone morphology 7.5% Arrhythmia 7.5% Furrowed tongue 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.
(Source: GARD)
Topic: Keratosis palmoplantaris striata 1
Question: What are the symptoms of Keratosis palmoplantaris striata 1 ?
Answer: What are the signs and symptoms of Keratosis palmoplantaris striata 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis palmoplantaris striata 1. 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) Hyperhidrosis 5% Autosomal dominant inheritance - Palmoplantar keratoderma - Streaks of hyperkeratosis along each finger onto the palm - 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.
(Source: GARD)
Topic: Orofaciodigital syndrome 3
Question: What are the symptoms of Orofaciodigital syndrome 3 ?
Answer: What are the signs and symptoms of Orofaciodigital syndrome 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 3. 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 pupil 90% Cleft palate 90% Cognitive impairment 90% Increased number of teeth 90% Kyphosis 90% Pectus excavatum 90% Postaxial hand polydactyly 90% Abnormal nasal morphology 50% Abnormality of eye movement 50% Abnormality of the fingernails 50% Abnormality of the nipple 50% Abnormality of the tragus 50% EEG abnormality 50% Frontal bossing 50% Hypertelorism 50% Hypertonia 50% Low-set, posteriorly rotated ears 50% Muscular hypotonia 50% Prominent occiput 50% Round face 50% Abnormality of the macula 7.5% Autosomal recessive inheritance - Bifid uvula - Bulbous nose - Hyperconvex nail - Intellectual disability - Low-set ears - Microdontia - Myoclonus - Postaxial foot polydactyly - Short sternum - Tongue nodules - 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.
(Source: GARD)
Topic: Rickets
Question: What is (are) Rickets ?
Answer: Rickets is a condition that causes children to have soft, weak bones. It usually occurs when children do not get enough vitamin D, which helps growing bones absorb important nutrients. Vitamin D comes from sunlight and food. Skin produces vitamin D in response to the sun's rays. Some foods also contain vitamin D, including fortified dairy products and cereals, and some kinds of fish.
(Source: GARD)
Topic: Rickets
Question: What are the symptoms of Rickets ?
Answer: What are the signs and symptoms of rickets? The signs and symptoms of rickets include: Bone pain or tenderness Bowed (curved) legs Large forehead Stunted growth Abnormally curved spine Large abdomen Abnormally shaped ribs and breastbone Wide wrist and elbow joints Teeth abnormalities
(Source: GARD)
Topic: Rickets
Question: What causes Rickets ?
Answer: What causes rickets? Rickets is caused by a lack of vitamin D. A child might not get enough vitamin D if he or she: Has dark skin Spends too little time outside Has on sunscreen all the time when out of doors Doesn't eat foods containing vitamin D because of lactose intolerance or a strict vegetarian diet Is breastfed without receiving vitamin D supplements Can't make or use vitamin D because of a medical disorder such as celiac disease Has an inherited disorder that affects vitamin D levels
(Source: GARD)
Topic: Rickets
Question: How to diagnose Rickets ?
Answer: How is rickets diagnosed? Rickets is typically diagnosed using specific blood tests and x-rays. Blood tests usually show low levels of calcium and phosphorus and high levels of alkaline phosphatase. Bone x-rays may show areas with calcium loss or changes in bone shape. Bone biopsies are rarely performed, but can confirm the diagnosis of rickets.
(Source: GARD)
Topic: Rickets
Question: What are the treatments for Rickets ?
Answer: What treatment is available for rickets? The treatment for rickets depends on the cause of the condition. If rickets is caused by a lack of vitamin D in the diet, then it is usually treated with carefully adjusted levels of vitamin D and calcium. The child's condition may improve within a few weeks of treatment. If rickets is caused by an inherited disorder or another medical condition, a healthcare provider would determine the appropriate treatment.
(Source: GARD)
Topic: Fanconi like syndrome
Question: What are the symptoms of Fanconi like syndrome ?
Answer: What are the signs and symptoms of Fanconi like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fanconi like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Multiple bilateral pneumothoraces - Multiple cutaneous malignancies - Osteomyelitis - Pancytopenia - Recurrent lower respiratory tract infections - 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.
(Source: GARD)
Topic: Crigler Najjar syndrome, type 2
Question: What is (are) Crigler Najjar syndrome, type 2 ?
Answer: Crigler Najjar syndrome, type 2 is caused by mutations in the UGT1A1 gene. The gene mutation causes the body to be unable to make adequate enzyme to convert bilirubin into a form that can easily be removed from the body. Without this enzyme, bilirubin can build up in the body and lead to extraordinarily yellow skin and eyes (jaundice). This condition is less severe than the type 1 form, however the severity of type II can vary greatly. Almost all patients with Crigler Najjar syndrome, type 2 develop normally, but there is a risk for some neurologic damage from kernicterus (bilirubin accumulation in the brain). In general people with type 2 Crigler Najjar syndrome have serum bilirubin levels ranging from 20 to 45 mg/dL. Phenobarbital treatment is the standard therapy for this condition and can often help to drastically reduce the bilirubin levels.
(Source: GARD)