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Is Neutral lipid storage disease with myopathy inherited ? | How is neutral lipid storage disease with myopathy inherited? This condition is inherited in an autosomal recessive pattern, 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 typically do ... | Neutral lipid storage disease with myopathy |
What are the treatments for Neutral lipid storage disease with myopathy ? | How might neutral lipid storage disease with myopathy be treated? To date, there is no treatment for the underlying metabolic problem. Current therapies include adhering to strict dietary guidelines and utilizing treatments focused on the associated symptoms. A recent study suggests that people with this condition may ... | Neutral lipid storage disease with myopathy |
What is (are) Glutaric acidemia type I ? | Glutaric acidemia type I (GA1) is an inherited disorder in which the body can't process certain proteins properly. People with GA1 have inadequate levels of an enzyme needed to break down certain amino acids. These amino acids and their intermediate breakdown products can accumulate, causing damage to the brain (partic... | Glutaric acidemia type I |
What are the symptoms of Glutaric acidemia type I ? | What are the signs and symptoms of Glutaric acidemia type I? The specific symptoms and severity in people with glutaric acidemia type 1 (GA1) can vary widely. Some people are mildly affected, while others have severe problems. Signs and symptoms usually first occur in infancy or early childhood, but sometimes symptoms ... | Glutaric acidemia type I |
Is Glutaric acidemia type I inherited ? | How is glutaric acidemia type I inherited? Glutaric acidemia type I is inherited in an autosomal recessive manner. This means that both copies of the responsible gene in each cell must have mutations for a person to be affected. The parents of a person with an autosomal recessive condition typically each carry one muta... | Glutaric acidemia type I |
How to diagnose Glutaric acidemia type I ? | Is genetic testing available for glutaric acidemia type I? Yes. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for this condition. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions abou... | Glutaric acidemia type I |
What is (are) Pyoderma gangrenosum ? | Pyoderma gangrenosum is a rare, destructive inflammatory skin disease of which a painful nodule or pustule breaks down to form a progressively enlarging ulcer. Lesions may occur either in the absence of any apparent underlying disorder or in association with other diseases, such as ulcerative colitis, Crohn's disease, ... | Pyoderma gangrenosum |
What are the symptoms of Pyoderma gangrenosum ? | What are the signs and symptoms of Pyoderma gangrenosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyoderma gangrenosum. 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 Dic... | Pyoderma gangrenosum |
What are the treatments for Pyoderma gangrenosum ? | How might pyoderma gangrenosum be treated? Although antibiotics are often prescribed prior to having a correct diagnosis (and may be continued if there is a secondary infection or surrounding cellulitis), antibiotics are generally not helpful for treating uncomplicated cases of pyoderma gangrenosum (PG). The best docum... | Pyoderma gangrenosum |
What are the symptoms of Hard skin syndrome Parana type ? | What are the signs and symptoms of Hard skin syndrome Parana type? The Human Phenotype Ontology provides the following list of signs and symptoms for Hard skin syndrome Parana 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 Med... | Hard skin syndrome Parana type |
What are the symptoms of Transaldolase deficiency ? | What are the signs and symptoms of Transaldolase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Transaldolase deficiency. 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 Med... | Transaldolase deficiency |
What is (are) Benign rolandic epilepsy (BRE) ? | Benign rolandic epilepsy is the most common form of childhood epilepsy. It is referred to as "benign" because most children outgrow the condition by puberty, usually by 14 years of age. This form of epilepsy is characterized by seizures involving the part of the frontal lobe of the brain called the rolandic area. The... | Benign rolandic epilepsy (BRE) |
What are the symptoms of Benign rolandic epilepsy (BRE) ? | What are the signs and symptoms of Benign rolandic epilepsy (BRE)? Patients with this syndrome typically present between the ages of 3 and 13 years with nighttime seizures. The episodes usually begin with twitching and stiffness of the face, and often wake up the child. The clonic activity causes a tingling feeling on... | Benign rolandic epilepsy (BRE) |
What causes Benign rolandic epilepsy (BRE) ? | What causes benign rolandic epilepsy? Benign rolandic epilepsy is a genetic syndrome with an autosomal dominant mode of inheritance. Although the gene associated with the condition has not been identified, Neubauer et al. (1998) found evidence of linkage to chromosome 15q. Juvenile myoclonic epilepsy has been mapped t... | Benign rolandic epilepsy (BRE) |
What are the treatments for Benign rolandic epilepsy (BRE) ? | What treatment is available for benign rolandic epilepsy? Although treatment is usually not necessary since the episodes are infrequent and are typically outgrown by puberty, anticonvulsants such as carbamazepine. | Benign rolandic epilepsy (BRE) |
What is (are) Situs inversus ? | Situs inversus is a condition in which the arrangement of the internal organs is a mirror image of normal anatomy. It can occur alone (isolated, with no other abnormalities or conditions) or it can occur as part of a syndrome with various other defects. Congenital heart defects are present in about 5-10% of affected pe... | Situs inversus |
What are the symptoms of Situs inversus ? | What are the signs and symptoms of situs inversus? In isolated situs inversus (occurring alone with no other abnormalities), there is a complete mirror image transposition of the thoracic (chest) and abdominal organs, and anterior-posterior (front-back) symmetry is normal. Many affected people have no associated health... | Situs inversus |
Is Situs inversus inherited ? | Is situs inversus inherited? The genetics of situs inversus is complex. Several familial cases have been reported in which the inheritance has been described as either autosomal recessive (most commonly), autosomal dominant, or X-linked. The condition appears to be genetically heterogeneous, meaning that different gene... | Situs inversus |
How to diagnose Situs inversus ? | How is situs inversus diagnosed? A thorough physical examination, followed by radiographic imaging of the chest and abdomen and electrocardiography, identify most cases of situs inversus. The main diagnostic challenge in affected people is the non-traditional presence of referred pain (pain felt in a different location... | Situs inversus |
What are the treatments for Situs inversus ? | How might situs inversus be treated? In isolated situs inversus, no treatment may be necessary. When situs inversus is associated with another condition, treatment may depend on the associated condition and the signs and symptoms present in the affected person. Knowing that a person has situs inversus is important for ... | Situs inversus |
What are the symptoms of Amyloidosis corneal ? | What are the signs and symptoms of Amyloidosis corneal? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyloidosis corneal. 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 Dicti... | Amyloidosis corneal |
How to diagnose Amyloidosis corneal ? | Is genetic testing available for lattice corneal dystrophy? Yes. GeneTests lists the names of laboratories that are performing genetic testing for lattice corneal dystrophy. Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested ... | Amyloidosis corneal |
What is (are) Pyle disease ? | Pyle disease is a bone disorder characterized by genu valgum (knock knees), Erlenmeyer flask deformity (where there is relative constriction of the diaphysis or shaft of the bone and flaring of the metaphysis or end of the bone), widening of the ribs and clavicles (collarbones), platyspondyly (flattening of the bones o... | Pyle disease |
What are the symptoms of Pyle disease ? | What are the signs and symptoms of Pyle disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyle disease. 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 ... | Pyle disease |
Is Pyle disease inherited ? | 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 cond... | Pyle disease |
What is (are) Trisomy 17 mosaicism ? | 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 th... | Trisomy 17 mosaicism |
What causes Trisomy 17 mosaicism ? | 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, t... | Trisomy 17 mosaicism |
What are the symptoms of Macular dystrophy, atypical vitelliform ? | 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. Y... | Macular dystrophy, atypical vitelliform |
What are the symptoms of Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis ? | 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 inf... | Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis |
What are the symptoms of Der Kaloustian Mcintosh Silver syndrome ? | 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. Y... | Der Kaloustian Mcintosh Silver syndrome |
What are the symptoms of X-linked lymphoproliferative syndrome 2 ? | 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. Y... | X-linked lymphoproliferative syndrome 2 |
What are the symptoms of Ausems Wittebol-Post Hennekam syndrome ? | 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... | Ausems Wittebol-Post Hennekam syndrome |
What are the symptoms of Ring chromosome 8 ? | 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 Dictionar... | Ring chromosome 8 |
What are the symptoms of Torticollis, familial ? | 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 D... | Torticollis, familial |
What are the symptoms of Langer mesomelic dysplasia ? | 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... | Langer mesomelic dysplasia |
What are the symptoms of Onychodystrophy-anonychia ? | 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 M... | Onychodystrophy-anonychia |
What is (are) Relapsing polychondritis ? | 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 feat... | Relapsing polychondritis |
What are the symptoms of Relapsing polychondritis ? | What are the signs and symptoms of Relapsing polychondritis? Relapsing polychondritis (RP) is characterized by recurrent inflammation of cartilage (the tough but flexible tissue that covers the ends of bones at a joint) and other tissues throughout the body. The features of the condition and the severity of symptoms va... | Relapsing polychondritis |
What causes Relapsing polychondritis ? | 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 conditio... | Relapsing polychondritis |
Is Relapsing polychondritis inherited ? | 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 mul... | Relapsing polychondritis |
How to diagnose Relapsing polychondritis ? | 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 feat... | Relapsing polychondritis |
What are the treatments for Relapsing polychondritis ? | 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... | Relapsing polychondritis |
What is (are) Mandibulofacial dysostosis with microcephaly ? | 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 ca... | Mandibulofacial dysostosis with microcephaly |
What are the symptoms of Mandibulofacial dysostosis with microcephaly ? | What are the signs and symptoms of Mandibulofacial dysostosis with microcephaly? Mandibulofacial dysostosis with microcephaly (MFDM) may affect multiple parts of the body but primarily affects the head and face. People with MFDM are usually born with a small head (microcephaly) which does not grow at the same rate as t... | Mandibulofacial dysostosis with microcephaly |
What causes Mandibulofacial dysostosis with microcephaly ? | 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 fo... | Mandibulofacial dysostosis with microcephaly |
Is Mandibulofacial dysostosis with microcephaly inherited ? | How is mandibulofacial dysostosis with microcephaly inherited? Mandibulofacial dysostosis with microcephaly (MFDM) is inherited in an autosomal dominant manner. This means that having one mutated copy of the responsible gene in each cell of the body is enough to cause signs and symptoms of the condition. When a person ... | Mandibulofacial dysostosis with microcephaly |
How to diagnose Mandibulofacial dysostosis with microcephaly ? | Is genetic testing available for mandibulofacial dysostosis with microcephaly? Yes. Genetic testing is available for mandibulofacial dysostosis with microcephaly (MFDM) and confirms the diagnosis in virtually all people suspected of having MFDM. There are two approaches to genetic testing for this condition. One is seq... | Mandibulofacial dysostosis with microcephaly |
What are the treatments for Mandibulofacial dysostosis with microcephaly ? | How might mandibulofacial dysostosis with microcephaly be treated? Individualized treatment of craniofacial features is managed by a multidisciplinary team which may include various specialists. Surgery may be needed for a variety of abnormalities, in the newborn period or beyond. Treatment of hearing loss is individua... | Mandibulofacial dysostosis with microcephaly |
What are the symptoms of Limb-girdle muscular dystrophy type 2H ? | What are the signs and symptoms of Limb-girdle muscular dystrophy type 2H? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 2H. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | Limb-girdle muscular dystrophy type 2H |
What are the symptoms of Chronic myeloid leukemia ? | What are the signs and symptoms of Chronic myeloid leukemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic myeloid leukemia. 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 Med... | Chronic myeloid leukemia |
What is (are) WAGR syndrome ? | WAGR syndrome is a genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or mental retardation. WAGR is an acronym for Wilms tumor, Aniridia, Genitourinary anomalies (such as undescended testicles or hypospadias in males, or interna... | WAGR syndrome |
What are the symptoms of WAGR syndrome ? | What are the signs and symptoms of WAGR syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for WAGR 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 loo... | WAGR syndrome |
What is (are) Oculocutaneous albinism type 2 ? | Oculocutaneous albinism type 2 is a genetic condition that affects the coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form ... | Oculocutaneous albinism type 2 |
What are the symptoms of Oculocutaneous albinism type 2 ? | What are the signs and symptoms of Oculocutaneous albinism type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism type 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 Med... | Oculocutaneous albinism type 2 |
What is (are) Chiari malformation type 1 ? | Chiari malformation type 1 is a structural abnormality of the cerebellum, the part of the brain that controls balance. It involves the extension of the lower part of the cerebellum into the foramen magnum (the large hole at the base of the skull which allows passage of the spinal cord), without involving the brainstem.... | Chiari malformation type 1 |
What are the symptoms of Chiari malformation type 1 ? | What are the signs and symptoms of Chiari malformation type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation 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... | Chiari malformation type 1 |
What causes Chiari malformation type 1 ? | What causes Chiari malformation type 1? Primary or congenital Chiari malformations are caused by structural defects in the brain and spinal cord that occur during fetal development. The underlying cause of the structural defects are not completely understood, but may involve genetic mutations or lack of proper vitamins... | Chiari malformation type 1 |
What are the treatments for Chiari malformation type 1 ? | How might Chiari malformation type 1 be treated? Some individuals with Chiari malformation type 1 are asymptomatic and do not require treatment. Individuals who have minimal symptoms, without syringomyelia, can typically be treated conservatively. Mild neck pain and headaches can usually be treated with pain medication... | Chiari malformation type 1 |
What is (are) Neonatal intrahepatic cholestasis caused by citrin deficiency ? | Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a liver condition is also known as neonatal-onset type II citrullinemia. NICCD blocks the flow of bile (a digestive fluid produced by the liver) and prevents the body from processing certain nutrients properly. This leads to transient intrahepatic... | Neonatal intrahepatic cholestasis caused by citrin deficiency |
What are the symptoms of Neonatal intrahepatic cholestasis caused by citrin deficiency ? | What are the signs and symptoms of Neonatal intrahepatic cholestasis caused by citrin deficiency? Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is characterized by transient intrahepatic cholestasis, diffuse fatty liver, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, de... | Neonatal intrahepatic cholestasis caused by citrin deficiency |
What is (are) Autosomal dominant nocturnal frontal lobe epilepsy ? | Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, inherited form of epilepsy. Signs and symptoms include seizures that usually occur at night during sleep. The seizures that occur in people with ADNFLE can last from a few seconds to a few minutes, and can vary from causing simple arousal from ... | Autosomal dominant nocturnal frontal lobe epilepsy |
What are the symptoms of Autosomal dominant nocturnal frontal lobe epilepsy ? | What are the signs and symptoms of Autosomal dominant nocturnal frontal lobe epilepsy? The seizures that occur in people with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) usually occur at night while sleeping, but some affected people also have seizures during the day. The seizures tend to occur in clust... | Autosomal dominant nocturnal frontal lobe epilepsy |
How to diagnose Autosomal dominant nocturnal frontal lobe epilepsy ? | How is autosomal dominant nocturnal frontal lobe epilepsy diagnosed? The diagnosis of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is made on clinical grounds. The key to diagnosis is a detailed history from the affected person, as well as witnesses. Sometimes video-EEG monitoring is necessary. The featu... | Autosomal dominant nocturnal frontal lobe epilepsy |
What are the symptoms of Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus ? | What are the signs and symptoms of Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus. If the information is available, the table below i... | Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus |
What are the symptoms of Ectrodactyly polydactyly ? | What are the signs and symptoms of Ectrodactyly polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectrodactyly polydactyly. 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 Med... | Ectrodactyly polydactyly |
What are the symptoms of Schisis association ? | What are the signs and symptoms of Schisis association? The Human Phenotype Ontology provides the following list of signs and symptoms for Schisis association. 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 Dicti... | Schisis association |
What are the symptoms of Congenital intrauterine infection-like syndrome ? | What are the signs and symptoms of Congenital intrauterine infection-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital intrauterine infection-like syndrome. If the information is available, the table below includes how often the symptom is seen in people with t... | Congenital intrauterine infection-like syndrome |
What are the symptoms of Focal facial dermal dysplasia ? | What are the signs and symptoms of Focal facial dermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Focal facial dermal 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 Medli... | Focal facial dermal dysplasia |
What is (are) Henoch-Schonlein purpura ? | Henoch-Schonlein purpura (HSP) is a disease that involves purple spots on the skin (purpura), joint pain, digestive problems, and glomerulonephritis (a type of kidney disorder). While the cause of this condition is not fully understood, it may develop as an immune response to an infection. HSP is usually seen in childr... | Henoch-Schonlein purpura |
What are the symptoms of Henoch-Schonlein purpura ? | What are the signs and symptoms of Henoch-Schonlein purpura? The Human Phenotype Ontology provides the following list of signs and symptoms for Henoch-Schonlein purpura. 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 Med... | Henoch-Schonlein purpura |
Is Henoch-Schonlein purpura inherited ? | Can Henoch-Schonlein purpura be inherited? The cause of Henoch-Schonlein purpura is currently unknown. Some evidence suggests that genetic predisposition may contribute to the development of this disease in some cases. Only a few families with multiple relatives affected by HSP have been reported in the medical liter... | Henoch-Schonlein purpura |
What are the treatments for Henoch-Schonlein purpura ? | What treatments are available for Henoch-Schonlein purpura? Unfortunately, there is no cure for Henoch-Schonlein purpura (HSP). Treatments aim to relieve the symptoms of this condition. For example, non-steroidal anti-inflammatory drugs (NSAIDs) or corticosteroids (such as prednisone) may be used to relieve pain. If... | Henoch-Schonlein purpura |
What are the symptoms of Follicle-stimulating hormone deficiency, isolated ? | What are the signs and symptoms of Follicle-stimulating hormone deficiency, isolated? The Human Phenotype Ontology provides the following list of signs and symptoms for Follicle-stimulating hormone deficiency, isolated. If the information is available, the table below includes how often the symptom is seen in people wi... | Follicle-stimulating hormone deficiency, isolated |
What is (are) Ulcerative proctitis ? | Ulcerative proctitis is a type of ulcerative colitis that affects the rectum. The symptoms of this form of proctitis may include bleeding from the rectum, the need to go to the bathroom frequently, tenesmus, diarrhea or constipation, and rectal pain. People with ulcerative proctitis tend to have episodes when the sympt... | Ulcerative proctitis |
What is (are) Common variable immunodeficiency ? | Common variable immunodeficiency (CVID) is a group of disorders in which the immune system cannot make antibodies against agents that cause infection (such as bacteria). CVID is characterized by low levels of most or all of the immunoglobulin (Ig) classes. This causes affected people to get frequent infections, particu... | Common variable immunodeficiency |
What are the symptoms of Common variable immunodeficiency ? | What are the signs and symptoms of Common variable immunodeficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Common variable immunodeficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | Common variable immunodeficiency |
What causes Common variable immunodeficiency ? | What causes common variable immunodeficiency (CVID)? Common variable immunodeficiency (CVID) is usually sporadic and thought to result from a combination of genetic and environmental factors. In most cases, the exact cause of CVID is unknown. Genetic factors associated with CVID include mutations in genes involved in t... | Common variable immunodeficiency |
What are the treatments for Common variable immunodeficiency ? | How might common variable immunodeficiency be treated? The main treatment for common variable immunodeficiency (CVID) is Ig replacement therapy, which stops the cycle of recurrent infections. Ig may be taken intravenously (through the vein) or subcutaneously (by injection). Adverse reactions to Ig must be monitored du... | Common variable immunodeficiency |
What are the symptoms of Mannosidosis, beta A, lysosomal ? | What are the signs and symptoms of Mannosidosis, beta A, lysosomal? The Human Phenotype Ontology provides the following list of signs and symptoms for Mannosidosis, beta A, lysosomal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... | Mannosidosis, beta A, lysosomal |
What are the symptoms of SLC4A1-associated distal renal tubular acidosis ? | What are the signs and symptoms of SLC4A1-associated distal renal tubular acidosis? The Human Phenotype Ontology provides the following list of signs and symptoms for SLC4A1-associated distal renal tubular acidosis. If the information is available, the table below includes how often the symptom is seen in people with t... | SLC4A1-associated distal renal tubular acidosis |
What are the symptoms of Lenz Majewski hyperostotic dwarfism ? | What are the signs and symptoms of Lenz Majewski hyperostotic dwarfism? The Human Phenotype Ontology provides the following list of signs and symptoms for Lenz Majewski hyperostotic dwarfism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | Lenz Majewski hyperostotic dwarfism |
What is (are) Familial hyperinsulinism ? | Familial hyperinsulinism is an inherited condition that causes individuals to have abnormally high levels of insulin, which leads to frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, and/or difficulty feedin... | Familial hyperinsulinism |
What are the symptoms of Familial hyperinsulinism ? | What are the signs and symptoms of Familial hyperinsulinism? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hyperinsulinism. 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 Med... | Familial hyperinsulinism |
What is (are) Septo-optic dysplasia ? | Septo-optic dysplasia is a disorder of early brain development. The signs and symptoms vary from person to person; however, underdevelopment (hypoplasia) of the optic nerve, abnormal formation of structures along the midline of the brain, and pituitary hypoplasia are the characteristic findings. Recurring seizures, del... | Septo-optic dysplasia |
What are the symptoms of Septo-optic dysplasia ? | What are the signs and symptoms of Septo-optic dysplasia? Symptoms may include blindness in one or both eyes, pupil dilation in response to light, nystagmus (a rapid, involuntary to-and-fro movement of the eyes), inward and outward deviation of the eyes, hypotonia (low muscle tone), and hormonal problems leading to slo... | Septo-optic dysplasia |
What causes Septo-optic dysplasia ? | What causes septo-optic dysplasia? In most cases of septo-optic dysplasia, the cause of the disorder is unknown. Researchers suspect that a combination of genetic and environmental factors may play a role in causing this disorder. Proposed environmental risk factors include viral infections, specific medications, and a... | Septo-optic dysplasia |
Is Septo-optic dysplasia inherited ? | Is septo-optic dysplasia inherited? | Septo-optic dysplasia |
What are the treatments for Septo-optic dysplasia ? | Can septo-optic dysplasia be cured? There is no cure for septo-optic dysplasia. Treatment is symptomatic. Hormone deficiencies may be treated with hormone replacement therapy. The optical problems are generally not treatable. Vision, physical, and occupational therapies may be required. | Septo-optic dysplasia |
What are the symptoms of Cerebellar ataxia and hypogonadotropic hypogonadism ? | What are the signs and symptoms of Cerebellar ataxia and hypogonadotropic hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebellar ataxia and hypogonadotropic hypogonadism. If the information is available, the table below includes how often the symptom is seen in peopl... | Cerebellar ataxia and hypogonadotropic hypogonadism |
What is (are) Prader-Willi habitus, osteopenia, and camptodactyly ? | Prader-Willi habitus, osteopenia, and camptodactyly syndrome is characterized by intellectual disability, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has only been described in two brothers and in one isolated case in a different family. Other symptoms included unusual face, defo... | Prader-Willi habitus, osteopenia, and camptodactyly |
What are the symptoms of Prader-Willi habitus, osteopenia, and camptodactyly ? | What are the signs and symptoms of Prader-Willi habitus, osteopenia, and camptodactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Prader-Willi habitus, osteopenia, and camptodactyly. If the information is available, the table below includes how often the symptom is seen in peopl... | Prader-Willi habitus, osteopenia, and camptodactyly |
What is (are) Glanzmann thrombasthenia ? | Glanzmann thrombasthenia (GT) is a rare inherited blood clotting disorder that is present at birth. It is characterized by the impaired function of specialized blood cells, called platelets, that are essential for proper blood clotting. Signs and symptoms vary greatly from person to person. Symptoms usually include abn... | Glanzmann thrombasthenia |
What are the symptoms of Glanzmann thrombasthenia ? | What are the signs and symptoms of Glanzmann thrombasthenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Glanzmann thrombasthenia. 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 Med... | Glanzmann thrombasthenia |
What are the symptoms of Ectodermal dysplasia adrenal cyst ? | What are the signs and symptoms of Ectodermal dysplasia adrenal cyst? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia adrenal cyst. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | Ectodermal dysplasia adrenal cyst |
What is (are) Intracranial arteriovenous malformation ? | Intracranial arteriovenous malformations (AVMs) are abnormal connections between the arteries and veins in the brain. Most people with brain or spinal AVMs experience few, if any, major symptoms. About 12 percent of people with this condition experience symptoms that vary greatly in severity. Seizures and headaches ar... | Intracranial arteriovenous malformation |
What are the symptoms of Intellectual disability - athetosis - microphthalmia ? | What are the signs and symptoms of Intellectual disability - athetosis - microphthalmia? The Human Phenotype Ontology provides the following list of signs and symptoms for Intellectual disability - athetosis - microphthalmia. If the information is available, the table below includes how often the symptom is seen in peo... | Intellectual disability - athetosis - microphthalmia |
What are the symptoms of Autosomal recessive palmoplantar keratoderma and congenital alopecia ? | What are the signs and symptoms of Autosomal recessive palmoplantar keratoderma and congenital alopecia? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive palmoplantar keratoderma and congenital alopecia. If the information is available, the table below includes how ... | Autosomal recessive palmoplantar keratoderma and congenital alopecia |
What is (are) Narcolepsy ? | Narcolepsy is a chronic brain disorder that involves poor control of sleep-wake cycles. People with narcolepsy have episodes of extreme daytime sleepiness and sudden, irresistible bouts of sleep (called "sleep attacks") that can occur at any time, and may last from seconds or minutes. Other signs and symptoms may inclu... | Narcolepsy |
What are the symptoms of Narcolepsy ? | What are the signs and symptoms of Narcolepsy? The Human Phenotype Ontology provides the following list of signs and symptoms for Narcolepsy. 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 t... | Narcolepsy |
How to diagnose Narcolepsy ? | How is narcolepsy diagnosed? Narcolepsy is often diagnosed in adolescence and young adulthood, when falling asleep suddenly in school brings the problem to attention. However, for many people with narcolepsy, the disorder is not diagnosed for up to 10-15 years after symptoms first begin. The disorder may be misdiagnose... | Narcolepsy |
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