falan42/medcuad_data huggingface dataset:
Topic: Lopes Gorlin syndrome
Question: What are the symptoms of Lopes Gorlin syndrome ?
Answer: What are the signs and symptoms of Lopes Gorlin syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lopes Gorlin 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) Distichiasis 90% Photophobia 50% Absent lower eyelashes - Autosomal dominant inheritance - Hypoplasia of the lower eyelids - 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: N syndrome
Question: What are the symptoms of N syndrome ?
Answer: What are the signs and symptoms of N syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for N 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 chromosome stability 90% Acute leukemia 90% Cognitive impairment 90% Cryptorchidism 90% Displacement of the external urethral meatus 90% Hypertonia 90% Megalocornea 90% Sensorineural hearing impairment 90% Visual impairment 90% Hearing impairment - Hypospadias - Intellectual disability - Neoplasm - Spasticity - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
(Source: GARD)
Topic: Encephalomyopathy
Question: What are the symptoms of Encephalomyopathy ?
Answer: What are the signs and symptoms of Encephalomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Encephalomyopathy. 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 electroretinogram 90% Abnormality of visual evoked potentials 90% Aminoaciduria 90% Behavioral abnormality 90% Cerebral calcification 90% Cognitive impairment 90% Decreased body weight 90% Decreased nerve conduction velocity 90% Hearing impairment 90% Hypertrichosis 90% Incoordination 90% Microcephaly 90% Ptosis 90% Seizures 90% Short stature 90% Skeletal muscle atrophy 90% Ventriculomegaly 90% Visual impairment 90% Abnormality of the basal ganglia - Athetosis - Autosomal recessive inheritance - Cerebral atrophy - Decreased activity of mitochondrial respiratory chain - Delayed gross motor development - Dystonia - Elevated serum creatine phosphokinase - Facial diplegia - Failure to thrive - Feeding difficulties in infancy - Hyporeflexia - Infantile onset - Intellectual disability, progressive - Irritability - Lactic acidosis - Loss of ability to walk in early childhood - Methylmalonic acidemia - Methylmalonic aciduria - Muscular hypotonia - Ophthalmoplegia - Peripheral neuropathy - Progressive encephalopathy - Respiratory insufficiency due to muscle weakness - Sensorineural hearing impairment - Spasticity - Strabismus - 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: Abruzzo Erickson syndrome
Question: What are the symptoms of Abruzzo Erickson syndrome ?
Answer: What are the signs and symptoms of Abruzzo Erickson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Abruzzo Erickson 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) Cleft palate 90% Displacement of the external urethral meatus 90% Hypoplasia of the zygomatic bone 90% Macrotia 90% Malar flattening 90% Chorioretinal coloboma 50% Iris coloboma 50% Radioulnar synostosis 50% Sensorineural hearing impairment 50% Short stature 50% Ulnar deviation of finger 50% Abnormal localization of kidney 7.5% Abnormality of dental morphology 7.5% Atria septal defect 7.5% Brachydactyly syndrome 7.5% Chin dimple 7.5% Conductive hearing impairment 7.5% Cryptorchidism 7.5% Epicanthus 7.5% Microcornea 7.5% Short toe 7.5% Toe syndactyly 7.5% Coloboma - Hearing impairment - Hypospadias - Protruding ear - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
(Source: GARD)
Topic: Ellis-Van Creveld syndrome
Question: What is (are) Ellis-Van Creveld syndrome ?
Answer: Ellis-Van Creveld syndrome is an inherited condition that affects bone growth. Affected people generally have short stature; short arms and legs (especially the forearm and lower leg); and a narrow chest with short ribs. Other signs and symptoms may include polydactyly; missing and/or malformed nails; dental abnormalities; and congenital heart defects. More than half of people affected by Ellis-van Creveld syndrome have changes (mutations) in the EVC or EVC2 genes; the cause of the remaining cases is unknown. The condition is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
(Source: GARD)
Topic: Ellis-Van Creveld syndrome
Question: What are the symptoms of Ellis-Van Creveld syndrome ?
Answer: What are the signs and symptoms of Ellis-Van Creveld syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ellis-Van Creveld 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 fingernails 90% Abnormality of the heart valves 90% Atria septal defect 90% Complete atrioventricular canal defect 90% Genu valgum 90% Hypoplastic toenails 90% Limb undergrowth 90% Narrow chest 90% Short distal phalanx of finger 90% Short thorax 90% Aplasia/Hypoplasia of the lungs 50% Cryptorchidism 50% Intrauterine growth retardation 50% Microdontia 50% Situs inversus totalis 50% Strabismus 50% Ventricular septal defect 50% Abnormal hair quantity 7.5% Abnormality of bone marrow cell morphology 7.5% Abnormality of female internal genitalia 7.5% Acute leukemia 7.5% Cognitive impairment 7.5% Cubitus valgus 7.5% Delayed eruption of teeth 7.5% Delayed skeletal maturation 7.5% Emphysema 7.5% Intellectual disability 7.5% Renal hypoplasia/aplasia 7.5% Synostosis of carpal bones 7.5% Thin vermilion border 7.5% Abnormality of the alveolar ridges - Acetabular spurs - Autosomal recessive inheritance - Capitate-hamate fusion - Cleft upper lip - Common atrium - Cone-shaped epiphyses of phalanges 2 to 5 - Dandy-Walker malformation - Ectodermal dysplasia - Epispadias - Horizontal ribs - Hypodontia - Hypoplastic iliac wing - Hypospadias - Nail dysplasia - Natal tooth - Neonatal short-limb short stature - Pectus carinatum - Postaxial foot polydactyly - Postaxial hand polydactyly - Short long bone - Short ribs - Talipes equinovarus - 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: Congenital short femur
Question: What is (are) Congenital short femur ?
Answer: Congenital short femur is a rare type of skeletal dysplasia, a complex group of bone and cartilage disorders that affect the skeleton of a fetus as it develops during pregnancy. Congenital short femur can vary in severity, ranging from hypoplasia (underdevelopment) of the femur to absence of the femur. With modern surgery techniques and expertise, lengthening the shortened femur may be an option for some patients. However surgical lengthening of the femur remains a challenging procedure with risks for complications.
(Source: GARD)
Topic: Hypertrichosis lanuginosa congenita
Question: What is (are) Hypertrichosis lanuginosa congenita ?
Answer: Hypertrichosis lanuginosa congenita is a congenital (present from birth) skin disease characterized by excessive lanugo (very fine, soft, unpigmented) hair covering the entire body, with the exception of the palms, soles, and mucous membranes. The hair can grow to be 3 to 5 cm in length. This condition appears to follow an autosomal dominant pattern of inheritance.
(Source: GARD)
Topic: Hypertrichosis lanuginosa congenita
Question: What are the symptoms of Hypertrichosis lanuginosa congenita ?
Answer: What are the signs and symptoms of Hypertrichosis lanuginosa congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrichosis lanuginosa 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) Congenital, generalized hypertrichosis 90% Delayed eruption of teeth 90% Hearing impairment 90% Thick eyebrow 90% Abnormality of skin pigmentation 50% Gingival overgrowth 7.5% Autosomal dominant inheritance - Double eyebrow - 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: Cowden syndrome
Question: What is (are) Cowden syndrome ?
Answer: Cowden syndrome is an inherited condition that is characterized primarily by multiple, noncancerous growths (called hamartomas) on various parts of the body. It is considered part of the PTEN Hamartoma Tumor Syndrome spectrum which also includes Bannayan-Riley-Ruvalcaba syndrome and Proteus syndrome. People affected by Cowden syndrome are also at an increased risk of developing certain types of cancer, such as breast, thyroid and endometrial (lining of the uterus) cancer. Most cases are caused by changes (mutations) in the PTEN gene and are inherited in an autosomal dominant manner. Management typically includes high-risk screening for associated tumors and/or prophylactic surgeries.
(Source: GARD)
Topic: Cowden syndrome
Question: What causes Cowden syndrome ?
Answer: What causes Cowden syndrome? Most cases of Cowden syndrome are caused by changes (mutations) in the PTEN gene. PTEN is a tumor suppressor gene which means that it encodes a protein that helps keep cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in PTEN result in a defective protein that is unable to carry out its normal role. This leads to the development of the various tumors and cancers associated with Cowden syndrome. Rarely, Cowden syndrome is caused by mutations in KLLN, SDHB, SDHC, SDHD, PIK3CA or AKT1. Some affected families have no identifiable mutation in any of the genes associated with Cowden syndrome; in these families, the exact underlying cause is unknown.
(Source: GARD)
Topic: Cowden syndrome
Question: Is Cowden syndrome inherited ?
Answer: How is Cowden syndrome inherited? Cowden syndrome is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with Cowden syndrome has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
(Source: GARD)
Topic: Cowden syndrome
Question: How to diagnose Cowden syndrome ?
Answer: How is Cowden syndrome diagnosed? A diagnosis of Cowden syndrome is based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in the PTEN gene can then be ordered to confirm the diagnosis. If a mutation in PTEN is not identified, genetic testing for the other genes known to cause Cowden syndrome can be considered. GeneReviews offers more detailed information regarding the diagnosis of Cowden syndrome including the clinical diagnostic criteria. Click here to view this resource. The PTEN Cleveland Clinic Risk Calculator can be used to estimate the chance of finding a PTEN mutation in children and adults with signs and symptoms of Cowden syndrome. Is genetic testing available for Cowden syndrome? Yes, genetic testing is available for many of the genes known to cause Cowden syndrome. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
(Source: GARD)
Topic: Cowden syndrome
Question: What are the treatments for Cowden syndrome ?
Answer: How might Cowden syndrome be treated? Because Cowden syndrome is associated with an increased risk for certain types of cancer, management is typically focused on high-risk cancer screening. According to the National Comprehensive Cancer Network 2014, the recommended screening protocol for Cowden syndrome includes: Cancer Screening for Women Breast self exams beginning at age 18 Clinical breast exams every 6-12 months beginning at age 25** Annual mammogram and breast MRI beginning at age 30-35** Annual screening for endometrial cancer with ultrasound and/or random biopsy may be considered beginning at age 30-35 Prophylactic surgeries may be considered as a preventative option for some forms of cancer Cancer Screening for Men and Women Annual physical examination beginning at age 18** Annual thyroid ultrasound beginning at age 18** Baseline colonoscopy at age 35 with follow-up every 5 years (more frequent if polyps identified) Consider renal (kidney) ultrasound every 1-2 years beginning at age 40 **or individualized based on the earliest diagnosis of cancer in the family GeneReviews offers more specific information on the treatment and management of Cowden syndrome. To access this resource, please click here.
(Source: GARD)
Topic: Blue cone monochromatism
Question: What is (are) Blue cone monochromatism ?
Answer: Blue cone monochromatism is an inherited X-linked vision disorder. In this condition both red and green cone sensitivities are absent, however rod function and blue cone sensitivities are present. Signs and symptoms include severely reduced visual acuity (clearnes), eccentric fixation, infantile nystagmus that decreases with age, no obvious retinal abnormalities, and poor or no color discrimination.
(Source: GARD)
Topic: Blue cone monochromatism
Question: What are the symptoms of Blue cone monochromatism ?
Answer: What are the signs and symptoms of Blue cone monochromatism? The Human Phenotype Ontology provides the following list of signs and symptoms for Blue cone monochromatism. 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 75% Abnormal electroretinogram 7.5% Abnormality of color vision 7.5% Abnormality of macular pigmentation 7.5% Abnormality of retinal pigmentation 7.5% Corneal dystrophy 7.5% Photophobia 7.5% Visual impairment 7.5% Blue cone monochromacy - Myopia - Reduced visual acuity - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
(Source: GARD)
Topic: Hairy cell leukemia
Question: What is (are) Hairy cell leukemia ?
Answer: 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.
(Source: GARD)
Topic: Preaxial polydactyly type 1
Question: What are the symptoms of Preaxial polydactyly type 1 ?
Answer: What are the signs and symptoms of Preaxial polydactyly type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial polydactyly type 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) Preaxial hand polydactyly - Radial deviation of thumb terminal phalanx - 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)