bowang0911/MedQuAD huggingface dataset:
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.
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.
What are the signs and symptoms of Langer mesomelic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Langer mesomelic dysplasia. 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 epiphysis morphology 90% Abnormality of the femur 90% Abnormality of the fibula 90% Abnormality of the palate 90% Madelung deformity 90% Micromelia 90% Short stature 90% Ulnar deviation of finger 90% Autosomal recessive inheritance - Broad ulna - Hypoplasia of the radius - Hypoplasia of the ulna - Lumbar hyperlordosis - Mesomelia - Mesomelic short stature - Radial bowing - Rudimentary fibula - Short femoral neck - Shortening of the tibia - 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 signs and symptoms of Spondylometaphyseal dysplasia with cone-rod dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia with cone-rod dystrophy. 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 retinal pigmentation 90% Abnormality of color vision 50% Astigmatism 50% Hyperlordosis 50% Hypermetropia 50% Myopia 50% Nystagmus 50% Photophobia 50% Scoliosis 50% Visual impairment 50% Brachydactyly syndrome 7.5% Limitation of joint mobility 7.5% Abnormality of macular pigmentation - Autosomal recessive inheritance - Cone/cone-rod dystrophy - Coxa vara - Cupped ribs - Dental malocclusion - Femoral bowing - Hypoplastic inferior ilia - Joint stiffness - Metaphyseal cupping - Metaphyseal irregularity - Metaphyseal widening - Narrow greater sacrosciatic notches - Ovoid vertebral bodies - Postnatal growth retardation - Progressive visual loss - Recurrent otitis media - Rhizomelia - Severe platyspondyly - Short finger - Short metacarpal - Spondylometaphyseal dysplasia - Tibial bowing - 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.
Prothrombin thrombophilia is an inherited disorder of blood clotting. Thrombophilia is an increased tendency to form abnormal blood clots in blood vessels. People who have prothrombin thrombophilia are at somewhat higher than average risk for a type of clot called a deep venous thrombosis, which typically occur in the deep veins of the legs. Affected people also have an increased risk of developing a pulmonary embolism. However, most people with prothrombin thrombophilia never develop abnormal blood clots. Prothrombin thrombophilia is the second most common inherited form of thrombophilia after factor V Leiden thrombophilia. It is more common in Caucasian populations. This condition is caused by a particular mutation (written G20210A or 20210G>A) in the F2 gene. People can inherit one or two copies of the gene mutation from their parents.
What are the signs and symptoms of Prothrombin thrombophilia? The signs and symptoms of this condition depend on whether a person has inherited one or two copies of the F2 gene mutation from his or her parents. A person who inherits one gene mutation is called a heterozygote. Whereas a person that inherits two gene mutations (one from each parent) is considered a homozygote for this condition; although it is very rare to find individuals who are homozygous. An affected heterozygous person usually experiences mild to moderate increase in their thrombin production, which is associated with 2.5 to 3 fold greater risk of developing a venous thromboembolism. There is not enough information about risk in those who are homozygous. Some research suggests that in women, prothrombin thrombophilia is associated with a somewhat increased risk of pregnancy loss (miscarriage) and may also increase the risk of other complications during pregnancy. These complications may include pregnancy-induced high blood pressure (preeclampsia), slow fetal growth, and early separation of the placenta from the uterine wall (placental abruption). It is important to note, however, that most women with prothrombin thrombophilia have normal pregnancies. The Human Phenotype Ontology provides the following list of signs and symptoms for Prothrombin thrombophilia. 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 - Cerebral venous thrombosis - Childhood onset - Deep venous thrombosis - Pulmonary embolism - Recurrent thrombophlebitis - Thromboembolism - 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.
How is prothrombin thrombophilia inherited? Prothrombin thrombophilia is inherited in an autosomal dominant manner. For this condition, this means that having one mutated copy of the disease-causing gene (F2) in each cell may be sufficient to cause signs or symptoms of the condition. The mutation in the F2 gene that causes prothrombin thrombophilia is called 20210G>A (also called the 20210G>A allele). An individual can be heterozygous (having the mutation in only one copy of the F2 gene) or homozygous (having a mutation in both copies of the F2 gene). Heterozygosity results in an increased risk for thrombosis; homozygosity results in more severe thrombophilia and/or increased risk for thrombosis. All individuals reported to date with prothrombin thrombophilia who are heterozygous for the 20210G>A allele have had an affected parent. Because of the relatively high prevalence of this allele in the general population, occasionally one parent is homozygous or both parents are heterozygous for this allele. When an individual who is heterozygous for the 20210G>A allele has children, each child has a 50% (1 in 2) risk to inherit that allele and also be heterozygous. An individual who is homozygous will always pass one of the 20210G>A alleles to each of his/her children. If two heterozygotes have children together, each child has a 25% (1 in 4) risk to be homozygous (having 2 mutated copies), a 50% risk to be heterozygous like each parent, and a 25% risk to inherit 2 normal copies of the F2 gene.
What kind of tests can determine if an individual has, or is a carrier of, prothrombin thrombophilia? No clinical signs or symptoms are specific for prothrombin thrombophilia. A confirmed diagnosis of this condition requires specific genetic testing via DNA analysis of the F2 gene, which provides instructions for making the protein prothrombin. The test identifies the presence of a common change (mutation) called 20210G>A. An individual can be a heterozygote (having one mutated copy of the F2 gene) or a homozygote (having two mutated copies). Most heterozygotes have a mildly elevated plasma concentration of prothrombin (which can be measured in a blood test) that is approximately 30% higher than normal. However, these values can vary greatly, and the range of prothrombin concentrations in heterozygotes overlaps significantly with the normal range. Therefore, plasma concentration of prothrombin is not reliable for diagnosis of this condition. Individuals interested in learning more about testing for prothrombin thrombophilia should speak with a genetics professional or other healthcare provider.
Wolffian tumors are rare tumors located anywhere along the length between the ovary and vagina in sites of remnant wolffian ducts. Wolffian ducts are structures in a developing embryo that get incorporated into the reproductive system in males and degenerate in females. Wolffian tumors are thought to have a low potential to become cancerous and tend to range from 0.8 to 25 centimeters in size. Surgery is the recommended treatment. In a small number of cases, recurrences or malignancy have been been reported. Close follow-up is advised.
What are the signs and symptoms of Baraitser-Winter syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Baraitser-Winter 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) Duplication of phalanx of hallux 5% Highly arched eyebrow 5% Microphthalmia 5% Oral cleft 5% Retrognathia 5% Ventriculomegaly 5% Abnormality of metabolism/homeostasis - Agenesis of corpus callosum - Anteverted nares - Aortic valve stenosis - Autosomal dominant inheritance - Autosomal recessive inheritance - Bicuspid aortic valve - Chorioretinal coloboma - Cryptorchidism - Hypertelorism - Intellectual disability - Iris coloboma - Lissencephaly - Long palpebral fissure - Long philtrum - Low posterior hairline - Low-set ears - Microcephaly - Micropenis - Muscular hypotonia - Overfolded helix - Pachygyria - Patent ductus arteriosus - Pointed chin - Postnatal growth retardation - Prominent epicanthal folds - Ptosis - Seizures - Sensorineural hearing impairment - Short neck - Short nose - Short stature - Trigonocephaly - Wide mouth - Wide nasal bridge - 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.
Cogan-Reese syndrome is one type of Iridocorneal Endothelial (ICE) syndrome. The ICE syndromes predominantly affect Caucasian, young to middle-aged women, and involve one eye. While there have been some cases of Cogan-Reese syndrome reported in children, the disease is typically observed in females in the mid-adult years. [1] In one study of 71 patients with ICE syndrome, the mean age at diagnosis was 51-years. Known glaucoma was present in 11 (15%) of cases. [2] While it is not yet known how to keep Cogan-Reese syndrome from progressing, the glaucoma associated with the disease can be treated with medication. Additionally, corneal transplant can treat any corneal swelling. The National Eye Institute provides information on screening for glaucoma HERE.
What are the signs and symptoms of Der Kaloustian Mcintosh Silver syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Der Kaloustian Mcintosh Silver 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) Abnormal dermatoglyphics 90% Abnormal nasal morphology 90% Abnormality of the palate 90% Abnormality of the pinna 90% Cognitive impairment 90% Dolichocephaly 90% Gait disturbance 90% Hearing abnormality 90% Macrocephaly 90% Muscular hypotonia 90% Narrow face 90% Neurological speech impairment 90% Pectus excavatum 90% Prominent nasal bridge 90% Radioulnar synostosis 90% Strabismus 90% Carious teeth 50% Multicystic kidney dysplasia 50% Autosomal recessive inheritance - Dislocated radial head - Generalized hypotonia - Long face - Prominent nose - 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 signs and symptoms of Nystagmus, congenital motor, autosomal recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Nystagmus, congenital motor, autosomal recessive. 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 - Congenital nystagmus - 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 signs and symptoms of Thai symphalangism syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thai symphalangism 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) Brachydactyly syndrome - Broad philtrum - Distal symphalangism (hands) - Dolichocephaly - High palate - Hypodontia - Hypoplastic helices - Postaxial foot polydactyly - Postaxial hand polydactyly - Prominent nasal bridge - Proximal symphalangism (hands) - Ptosis - Short finger - Short stature - Short toe - Small earlobe - Sporadic - Wide nasal bridge - 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 signs and symptoms of Radio-ulnar synostosis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Radio-ulnar synostosis 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) Autosomal dominant inheritance - Dislocated radial head - Limited elbow extension - Radioulnar synostosis - 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.
Fetal hydantoin syndrome is a disorder that is caused by exposure of a fetus to phenytoin, a drug commonly prescribed for epilepsy. Not all infants exposed to phenytoin will be affected with the disorder. Symptoms in affected individuals may include abnormalities of the skull and facial features, growth deficiencies, underdeveloped nails of the fingers and toes, and/or mild developmental delays. Other findings occasionally associated with this syndrome include cleft lip and palate, having an abnormally small head (microcephaly) and brain malformations with more significant developmental delays. Treatment may include surgery for cleft lip and palate and special education and related services for children with learning delays. Other treatment is symptomatic and supportive.