sarnsrun/medquad huggingface dataset:
Topic: Pyle disease
Question: Is Pyle disease inherited ?
Answer: Is Pyle disease inherited? Pyle disease in inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they often don't have any signs and symptoms of the condition. Some carriers (obligate heterozygotes) of Pyle disease show minor skeletal changes.
Source: GARD
Topic: Trisomy 17 mosaicism
Question: What is (are) Trisomy 17 mosaicism ?
Answer: Trisomy 17 mosaicism is a chromosomal abnormality in which there are three copies of chromosome 17 in some cells of the body, rather than the usual two copies. Trisomy 17 mosaicism is one of the rarest trisomies in humans. It is often incorrectly called trisomy 17 (also referred to as full trisomy 17), which is when three copies of chromosome 17 are present in all cells of the body. Full trisomy 17 has never been reported in a living individual in the medical literature. Few cases of trisomy 17 mosaicism have been described, most having been detected during pregnancy through a test called amniocentesis. Only a few individuals have had a confirmed diagnosis of trisomy 17 mosaicism after birth. Because the proportion and location of cells with trisomy 17 differs from case to case, the presence and severity of signs and symptoms may vary significantly from person to person.
Source: GARD
Topic: Trisomy 17 mosaicism
Question: What causes Trisomy 17 mosaicism ?
Answer: What causes trisomy 17 mosaicism? Trisomy 17 mosaicism can arise due to errors in cell division that occur after conception. For example, at the time of conception, the fetus may actually have trisomy 17 in all of its cells; however, during cell division, some of the cells lose the extra chromosome 17. Alternatively, the fetus may initially have had only two copies of chromosome 17, but due to errors in cell division some of the cells end up with an extra copy of chromosome 17. Either of these two scenarios result in trisomy 17 mosaicism. To read more about trisomy mosaicism, visit the following links from the Medical Genetics Department at the University of British Columbia in Canada. What is mosaicism?  How does trisomy mosaicism occur?
Source: GARD
Topic: Macular dystrophy, atypical vitelliform
Question: What are the symptoms of Macular dystrophy, atypical vitelliform ?
Answer: What are the signs and symptoms of Macular dystrophy, atypical vitelliform? The Human Phenotype Ontology provides the following list of signs and symptoms for Macular dystrophy, atypical vitelliform. 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) Reduced visual acuity 5% Visual field defect 5% Visual impairment 5% Autosomal dominant inheritance - Late onset - Macular dystrophy - Vitelliform-like macular lesions - 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: Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis
Question: What are the symptoms of Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis ?
Answer: What are the signs and symptoms of Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis. 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) Acidosis - Aminoaciduria - Autosomal recessive inheritance - Intellectual disability - Muscular dystrophy - Osteoporosis - Severe short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Der Kaloustian Mcintosh Silver syndrome
Question: What are the symptoms of Der Kaloustian Mcintosh Silver syndrome ?
Answer: 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.
Source: GARD
Topic: X-linked lymphoproliferative syndrome 2
Question: What are the symptoms of X-linked lymphoproliferative syndrome 2 ?
Answer: What are the signs and symptoms of X-linked lymphoproliferative syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked lymphoproliferative syndrome 2. 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) Fever 9/10 Splenomegaly 9/10 Hepatitis 8/9 Hypertriglyceridemia 7/8 Hypofibrinogenemia 7/8 Increased serum ferritin 7/8 Hemophagocytosis 4/9 Decreased antibody level in blood - 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: Ausems Wittebol-Post Hennekam syndrome
Question: What are the symptoms of Ausems Wittebol-Post Hennekam syndrome ?
Answer: What are the signs and symptoms of Ausems Wittebol-Post Hennekam syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ausems Wittebol-Post Hennekam 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) Non-midline cleft lip 90% Abnormality of retinal pigmentation 50% Visual impairment 50% 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: Ring chromosome 8
Question: What are the symptoms of Ring chromosome 8 ?
Answer: What are the signs and symptoms of Ring chromosome 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Ring chromosome 8. 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 ureter 90% Anteverted nares 90% Cognitive impairment 90% Deviation of finger 90% Epicanthus 90% Frontal bossing 90% High forehead 90% Low posterior hairline 90% Polyhydramnios 90% Round ear 90% Short nose 90% Sloping forehead 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Torticollis, familial
Question: What are the symptoms of Torticollis, familial ?
Answer: What are the signs and symptoms of Torticollis, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Torticollis, 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 - Facial asymmetry - Torticollis - 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: Langer mesomelic dysplasia
Question: What are the symptoms of Langer mesomelic dysplasia ?
Answer: 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.
Source: GARD
Topic: Onychodystrophy-anonychia
Question: What are the symptoms of Onychodystrophy-anonychia ?
Answer: What are the signs and symptoms of Onychodystrophy-anonychia? The Human Phenotype Ontology provides the following list of signs and symptoms for Onychodystrophy-anonychia. 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) Tapered distal phalanges of finger 5% Anonychia - Autosomal dominant inheritance - Congenital hip dislocation - Nail dysplasia - Nail dystrophy - 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: Relapsing polychondritis
Question: What is (are) Relapsing polychondritis ?
Answer: Relapsing polychondritis (RP) is a rare condition characterized by recurrent inflammation of cartilage and other tissues throughout the body. Cartilage is a tough but flexible tissue that covers the ends of bones at a joint, and gives shape and support to other parts of the body. Ear involvement is the most common feature, but a variety of other areas of the body may be affected, including the costal (rib) cartilage, eyes, nose, airways, heart, vascular (veins) system, skin, joints, kidney, and nervous system. The signs and symptoms vary from person to person depending on which parts of the body are affected. The exact underlying cause of RP is unknown; however, scientists suspect that it is an autoimmune condition. The primary goals of treatment for people with RP are to relieve present symptoms and to preserve the structure of the affected cartilage.
Source: GARD
Topic: Relapsing polychondritis
Question: What causes Relapsing polychondritis ?
Answer: What causes relapsing polychondritis? The exact underlying cause of relapsing polychondritis (RP) is unknown. However, scientists suspect that it is an autoimmune condition. It it thought that RP occurs when the body's immune system mistakenly attacks its own cartilage and other tissues. In general, autoimmune conditions are complex traits that are associated with the effects of multiple genes in combination with lifestyle and environmental factors. There is also evidence to suggest that some people may be born with a genetic susceptibility to RP. Studies have found that people with RP are roughly twice as likely as those without this condition to carry a certain genetic allele called HLA-DR4. "HLA" stands for human leukocyte antigen, which is an important part of our immune system and plays a role in resistance and predisposition (risk) to disease. However, HLA genes are not solely responsible for specific diseases but instead may simply contribute along with other genetic or environmental factors to disease risk. Thus, many people with HLA-DR4 will never develop RP.
Source: GARD
Topic: Relapsing polychondritis
Question: Is Relapsing polychondritis inherited ?
Answer: Is relapsing polychondritis inherited? Relapsing polychondritis (RP) is not passed through families in a clear-cut fashion. Most people with relapsing polychondritis do not have affected relatives. Like many other autoimmune conditions, RP is likely a multifactorial condition which is associated with the effects of multiple genes in combination with lifestyle and environmental factors. In general, having a first degree relative (for example a parent, child, or sibling) with an autoimmune condition may increase your personal risk for developing an autoimmune condition. Unfortunately, no specific risk estimates are available for relapsing polychondritis.
Source: GARD
Topic: Relapsing polychondritis
Question: How to diagnose Relapsing polychondritis ?
Answer: How is relapsing polychondritis diagnosed? There are no tests available that are specific for relapsing polychondritis (RP). A diagnosis is, therefore, generally based on the presence of characteristic signs and symptoms. For example, people may be diagnosed as having RP if they have three or more of the following features: Inflammation of the cartilage of both ears Seronegative (negative for rheumatoid factor) polyarthritis (arthritis that involves 5 or more joints simultaneously) Inflammation of the cartilage of the nose Eye inflammation (conjunctivitis, episcleritis, scleritis, and/or uveitis) Inflammation of the cartilage of the airway Vestibular dysfunction (i.e. vertigo, hearing loss, tinnitus) In some cases, a biopsy of affected tissue may be necessary to support the diagnosis.
Source: GARD
Topic: Relapsing polychondritis
Question: What are the treatments for Relapsing polychondritis ?
Answer: How might relapsing polychondritis be treated? The primary goals of treatment for people with relapsing polychondritis (RP) are to relieve present symptoms and to preserve the structure of the affected cartilage. The main treatment for RP is corticosteroid therapy with prednisone to decrease the severity, frequency and duration of relapses. Higher doses are generally given during flares, while lower doses can typically be prescribed during periods of remission. Other medications reported to control symptoms include dapsone, colchicine, azathioprine, methotrexate, cyclophosphamide, hydroxychloroquine, cyclosporine and infliximab. People who develop severe heart or respiratory complications may require surgery. More detailed information about the management of RP is available on Medscape Reference's Web site and can be viewed by clicking here.
Source: GARD
Topic: Mandibulofacial dysostosis with microcephaly
Question: What is (are) Mandibulofacial dysostosis with microcephaly ?
Answer: Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder characterized by developmental delay and abnormalities of the head and face. Affected people are usually born with a small head that does not grow at the same rate as the body (progressive microcephaly). Developmental delay and intellectual disability can range from mild to severe. Facial abnormalities may include underdevelopment of the midface and cheekbones; a small lower jaw; small and abnormally-shaped ears; and other distinctive facial features. Other features of MFDM may include hearing loss, cleft palate, heart problems, abnormalities of the thumbs, abnormalities of the trachea and/or esophagus, and short stature. MFDM is caused by mutations in the EFTUD2 gene and is inherited in an autosomal dominant manner.
Source: GARD
Topic: Mandibulofacial dysostosis with microcephaly
Question: What causes Mandibulofacial dysostosis with microcephaly ?
Answer: What causes mandibulofacial dysostosis with microcephaly? Mandibulofacial dysostosis with microcephaly (MFDM) is caused by mutations in the EFTUD2 gene. This gene gives the body instructions for making part of spliceosomes, which help process a type of RNA- a chemical cousin of DNA that serves as a genetic blueprint for making proteins. Mutations in EFTUD2 impair the production or function of the enzyme from the gene, which impairs the processing of mRNA. However, at this time, it is not clear how this process causes the specific symptoms of MFDM.
Source: GARD