sarnsrun/medquad huggingface dataset:
Topic: Familial hypertrophic cardiomyopathy
Question: What are the symptoms of Familial hypertrophic cardiomyopathy ?
Answer: What are the signs and symptoms of Familial hypertrophic cardiomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hypertrophic cardiomyopathy. 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 metabolism/homeostasis - Arrhythmia - Asymmetric septal hypertrophy - Autosomal dominant inheritance - Congestive heart failure - Subaortic stenosis - Sudden death - 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: Familial hypertrophic cardiomyopathy
Question: What causes Familial hypertrophic cardiomyopathy ?
Answer: What causes familial hypertrophic cardiomyopathy? Familial hypertrophic cardiomyopathy (HCM) is caused by mutations in any of several genes. The genes most commonly responsible are the MYH7, MYBPC3, TNNT2, and TNNI3 genes. Other genes that have not yet been identified may also be responsible for familial HCM. The genes known to be responsible for familial HCM give the body instructions to make proteins that play important roles in contraction of the heart muscle. The proteins form structures in muscle cells called sarcomeres, which are needed for muscle contractions. Sarcomeres are made of protein fibers that attach to each other and release, allowing muscles to contract. The contractions of heart muscle are needed to pump blood to the rest of the body. While it is unclear exactly how mutations in these genes cause familial HCM, they are thought to lead to abnormal structure or function of sarcomeres, or reduce the amount of proteins made. When the function of sarcomeres is impaired, normal heart muscle contractions are disrupted.
Source: GARD
Topic: Familial hypertrophic cardiomyopathy
Question: Is Familial hypertrophic cardiomyopathy inherited ?
Answer: How is familial hypertrophic cardiomyopathy inherited? Familial hypertrophic cardiomyopathy (HCM) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause features of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene. In rare cases, a person with familial HCM has a mutation in both copies of the responsible gene, which leads to more severe signs and symptoms.
Source: GARD
Topic: Familial hypertrophic cardiomyopathy
Question: How to diagnose Familial hypertrophic cardiomyopathy ?
Answer: Is genetic testing available for familial hypertrophic cardiomyopathy? Yes. Familial hypertrophic cardiomyopathy (HCM) is caused by mutations in any of several known genes, and possibly other genes that have not yet been identified. Genetic testing for HCM is most informative as a "family test" rather than a test of one person. Results are most accurately interpreted after merging both genetic and medical test results from multiple family members. Ideally, the family member first having genetic testing should have a definitive diagnosis of HCM and be the most severely affected person in the family. Genetic testing of at-risk, asymptomatic relatives is possible when the responsible mutation has been identified in an affected family member. Testing should be performed in the context of formal genetic counseling. An algorithm showing a general approach to finding the specific genetic cause in people with HCM can be viewed here. The Genetic Testing Registry (GTR) provides information about the genetic tests for familial HCM. 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. As is often the case with genetic testing in general, there are benefits and limitations of genetic testing for familial HCM. Testing may confirm the diagnosis in a person with symptoms, and may help to identify family members at risk. However, results are sometimes unclear; testing cannot detect all mutations; and results cannot be used to predict whether a person will develop symptoms, age of onset, or long-term outlook (prognosis).
Source: GARD
Topic: Neutropenia chronic familial
Question: What are the symptoms of Neutropenia chronic familial ?
Answer: What are the signs and symptoms of Neutropenia chronic familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Neutropenia chronic familial. 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 - Clubbing of fingers - Gingivitis - Increased antibody level in blood - Neutropenia - Periodontitis - Premature loss of teeth - 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: Bork Stender Schmidt syndrome
Question: What are the symptoms of Bork Stender Schmidt syndrome ?
Answer: What are the signs and symptoms of Bork Stender Schmidt syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bork Stender Schmidt 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 hair quantity 90% Abnormality of retinal pigmentation 90% Brachydactyly syndrome 90% Cataract 90% Reduced number of teeth 50% Displacement of the external urethral meatus 7.5% Autosomal dominant inheritance - Hypospadias - Increased number of teeth - Juvenile cataract - Microdontia - Oligodontia - Pili canaliculi - Rod-cone dystrophy - Short metacarpal - Short proximal phalanx of finger - Short toe - Uncombable hair - 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: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
Question: What is (are) DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ?
Answer: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome causes a moderately increased risk for certain cancers and tumors. The lungs, kidneys, ovaries, and thyroid are the most commonly involved sites. Pleuropulmonary blastoma is the most commonly associated tumor and often occurs in infants and young children. Cysts in the kidneys (cystic nephroma) are also associated with DICER1 syndrome. These cysts typically develop in childhood, but do not usually cause any health problems. Women with DICER1 syndrome are at an increased risk for Sertoli-Leydig tumors of the ovaries. DICER1 syndrome is also associated with goiter (multiple fluid-filled or solid tumors in the thyroid gland). These goiters typically occur in adulthood and most often do not cause symptoms. This syndrome is caused by mutations in the DICER1 gene. It is passed through families in an autosomal dominant fashion. Affected members in the same family can be very differently affected.
Source: GARD
Topic: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
Question: What are the symptoms of DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ?
Answer: What are the signs and symptoms of DICER1-related pleuropulmonary blastoma cancer predisposition syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for DICER1-related pleuropulmonary blastoma cancer predisposition 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 metabolism/homeostasis - Autosomal dominant inheritance - Familial predisposition - Medulloblastoma - Pleuropulmonary blastoma - Rhabdomyosarcoma - 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: Unna-Thost palmoplantar keratoderma
Question: What is (are) Unna-Thost palmoplantar keratoderma ?
Answer: Unna-Thost palmoplantar keratoderma is a type of diffuse palmoplantar keratoderma that mostly affects the palms of the hands and soles of the feet. It usually begins in early childhood with redness of the palms and soles. The palms and soles gradually become thicker and develop a yellowish, waxy appearance. Increased sweating (hyperhidrosis) is quite common and there is a tendency to fungal and bacterial infections of the feet. This condition usually does not extend beyond the hands and feet. It may affect the knuckle pads and nails, but usually does not involve the thin skin on the top of the feet or hands. Unna-Thost palmoplantar keratoderma is inherited in an autosomal dominant fashion and caused by mutations in the KRT1 gene.
Source: GARD
Topic: Unna-Thost palmoplantar keratoderma
Question: What are the symptoms of Unna-Thost palmoplantar keratoderma ?
Answer: What are the signs and symptoms of Unna-Thost palmoplantar keratoderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Unna-Thost palmoplantar keratoderma. 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 - Nonepidermolytic palmoplantar keratoderma - 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: Unna-Thost palmoplantar keratoderma
Question: What are the treatments for Unna-Thost palmoplantar keratoderma ?
Answer: How might Unna-Thost palmoplantar keratoderma be treated? The following treatments can help to soften the thickened skin and make it less noticeable:  Emollients  Keratolytics (such as salicylic acid in propylene glycol) Topical retinoids Topical vitamin D ointment (calcipotriol) Systemic retinoids (acitretin) Antifungal medication may help if the condition occurs along with a fungal infection.
Source: GARD
Topic: Phaeohyphomycosis
Question: What is (are) Phaeohyphomycosis ?
Answer: Phaeohyphomycosis refers to fungal infections caused by dematiaceous (darkly, pigmented fungi). It can be associated with a variety of clinical syndromes including invasive sinusitis; nodules or abscesses beneath the skin; keratitis; lung masses; osteomyelitis; mycotic arthritis; endocarditis; brain abscess; and wide-spread infection. Although the condition can affect all people, it is most commonly diagnosed in immunocompetent and immunosuppressed people and can even be life-threatening in these populations. Treatment depends on the signs and symptoms present in each person but may include surgery and/or various medications.
Source: GARD
Topic: Acrofacial dysostosis Catania type
Question: What are the symptoms of Acrofacial dysostosis Catania type ?
Answer: What are the signs and symptoms of Acrofacial dysostosis Catania type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrofacial dysostosis Catania 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) Abnormality of the palate 90% Abnormality of the philtrum 90% Brachydactyly syndrome 90% Cognitive impairment 90% Finger syndactyly 90% High forehead 90% Hypoplasia of the zygomatic bone 90% Microcephaly 90% Short nose 90% Short palm 90% Short stature 90% Abnormality of periauricular region 50% Cryptorchidism 50% Delayed skeletal maturation 50% Intrauterine growth retardation 50% Low-set, posteriorly rotated ears 50% Single transverse palmar crease 50% Clinodactyly of the 5th finger 7.5% Coarse hair 7.5% Displacement of the external urethral meatus 7.5% Facial cleft 7.5% Hernia of the abdominal wall 7.5% Pectus excavatum 7.5% Premature birth 7.5% Reduced number of teeth 7.5% Spina bifida occulta 7.5% Webbed neck 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: Split hand urinary anomalies spina bifida
Question: What are the symptoms of Split hand urinary anomalies spina bifida ?
Answer: What are the signs and symptoms of Split hand urinary anomalies spina bifida? The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand urinary anomalies spina bifida. 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 upper urinary tract 90% Finger syndactyly 90% Abnormality of the antitragus 50% Abnormality of the palate 50% Aplasia/Hypoplasia of the nipples 50% Aplasia/Hypoplasia of the radius 50% Congenital diaphragmatic hernia 50% Edema 50% Low-set, posteriorly rotated ears 50% Myelomeningocele 50% Patent ductus arteriosus 50% Proximal placement of thumb 50% Sloping forehead 50% Spina bifida occulta 50% Split foot 50% Split hand 50% Thickened skin 50% Toe syndactyly 50% Upslanted palpebral fissure 50% Asymmetric growth 7.5% Hydrocephalus 7.5% Talipes 7.5% Tracheoesophageal fistula 7.5% Webbed neck 7.5% Abnormality of the diaphragm - Autosomal dominant inheritance - Cutaneous finger syndactyly - Hydronephrosis - Thoracolumbar scoliosis - Ureteral 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: Spondylometaphyseal dysplasia corner fracture type
Question: What are the symptoms of Spondylometaphyseal dysplasia corner fracture type ?
Answer: What are the signs and symptoms of Spondylometaphyseal dysplasia corner fracture type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia corner fracture 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) Abnormality of the hip bone 90% Abnormality of the wrist 90% Hypoplasia of the odontoid process 90% Micromelia 90% Recurrent fractures 90% Short stature 90% Hyperlordosis 50% Abnormality of the metacarpal bones 7.5% Genu valgum 7.5% Kyphosis 7.5% Lower limb asymmetry 7.5% Pes planus 7.5% Scoliosis 7.5% Short distal phalanx of finger 7.5% Tetralogy of Fallot 7.5% Autosomal dominant inheritance - Coxa vara - Hyperconvex vertebral body endplates - Metaphyseal irregularity - Short femoral neck - Spondylometaphyseal dysplasia - Waddling gait - 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: Bamforth syndrome
Question: What are the symptoms of Bamforth syndrome ?
Answer: What are the signs and symptoms of Bamforth syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bamforth 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 hair quantity 90% Choanal atresia 90% Cognitive impairment 90% Hypothyroidism 90% Oral cleft 90% Pili torti 90% Polyhydramnios 90% Autosomal recessive inheritance - Bifid epiglottis - Cleft palate - Thyroid agenesis - 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