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What are the treatments for Progressive hemifacial atrophy ? | How might progressive hemifacial atrophy be treated? | Progressive hemifacial atrophy |
What are the symptoms of Hawkinsinuria ? | What are the signs and symptoms of Hawkinsinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Hawkinsinuria. 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... | Hawkinsinuria |
What are the symptoms of Spinocerebellar ataxia 14 ? | What are the signs and symptoms of Spinocerebellar ataxia 14? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 14. 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... | Spinocerebellar ataxia 14 |
What are the symptoms of Spastic paraplegia 17 ? | What are the signs and symptoms of Spastic paraplegia 17? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 17. 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... | Spastic paraplegia 17 |
What are the symptoms of PEHO syndrome ? | What are the signs and symptoms of PEHO syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PEHO 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... | PEHO syndrome |
What are the symptoms of Pelvic dysplasia arthrogryposis of lower limbs ? | What are the signs and symptoms of Pelvic dysplasia arthrogryposis of lower limbs? The Human Phenotype Ontology provides the following list of signs and symptoms for Pelvic dysplasia arthrogryposis of lower limbs. If the information is available, the table below includes how often the symptom is seen in people with thi... | Pelvic dysplasia arthrogryposis of lower limbs |
What is (are) Oral leukoplakia ? | Oral leukoplakia is a diagnosis of exclusion. It describes a white plaque that does not rub off and cannot be characterized as any other condition. Though it may occur in any part of the mouth, it generally affects the tongue, gums, and inner cheek. Physicians will usually biopsy oral leukoplakia lesions as 20-40% of c... | Oral leukoplakia |
What is (are) Oral lichen planus ? | Oral lichen planus is a inflammatory condition that affects the inside of the mouth. Signs and symptoms include patches of fine white lines and dots most commonly in the inside of the cheeks, gums, and/or tongue. Most people with lichen planus experience no to few symptoms, others may have painful sores or ulcers in t... | Oral lichen planus |
What are the treatments for Oral lichen planus ? | How might oral lichen planus be treated? It is important to identify and remove any potential agent that might have caused a lichenoid reaction. Chemicals or medications associated with development of lichen planus include gold, antibiotics, arsenic, iodides, chloroquine, quinacrine, quinidine, antimony, phenothiazines... | Oral lichen planus |
What is (are) Ollier disease ? | Ollier disease is a skeletal disorder characterized by an asymmetric distribution of cartilagenous tumors (endochondromas) which may lead to skeletal deformities and limb-length discrepancy.[3] This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where ... | Ollier disease |
What are the symptoms of Ollier disease ? | What are the signs and symptoms of Ollier disease? Clinical manifestations in Ollier disease often appear in the first decade of life and usually start with the appearance of palpable bony masses on a finger or a toe, an asymetric shortening of an extremity with limping, and skeletal deformities which may be associated... | Ollier disease |
What causes Ollier disease ? | What causes Ollier disease? The exact cause of Ollier disease is not known. It is usually a sporadic, non-familial disorder, however, in some cases, it may be inherited as an autosomal dominant genetic trait. | Ollier disease |
What are the treatments for Ollier disease ? | How might Ollier disease be treated? There is no specific medical treatment for Ollier disease. Surgery is indicated in cases where complications (pathological fractures, growth defect, malignant transformation) arise. | Ollier disease |
What are the symptoms of Bare lymphocyte syndrome ? | What are the signs and symptoms of Bare lymphocyte syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bare lymphocyte 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 Med... | Bare lymphocyte syndrome |
What is (are) Fragile X syndrome ? | Fragile X syndrome is a genetic condition involving changes in part of the X chromosome. This condition causes a range of developmental problems including learning disabilities and cognitive impairment. It is the most common form of inherited intellectual disability in males and a significant cause of intellectual disa... | Fragile X syndrome |
What are the symptoms of Fragile X syndrome ? | What are the signs and symptoms of Fragile X syndrome? Fragile X syndrome is characterized by developmental problems including intellectual disability and delayed speech and language development. Males are usually more severely affected than females. Additional features may include anxiety; attention deficit disorder (... | Fragile X syndrome |
What causes Fragile X syndrome ? | What causes fragile X syndrome? Mutations (changes) in the FMR1 gene cause fragile X syndrome (FXS). This gene carries instructions to make a protein called the fragile X mental retardation 1 protein. The FMR1 gene contains a section of DNA called a CGG triplet repeat, which normally repeats from 5 to around 40 times. ... | Fragile X syndrome |
Is Fragile X syndrome inherited ? | How is fragile X syndrome inherited? Fragile X syndrome (FXS) is inherited in an X-linked dominant manner. A condition is X-linked if the responsible gene is located on the X chromosome. The inheritance is dominant if having only one changed (mutated) copy of the responsible gene is enough to cause symptoms of the cond... | Fragile X syndrome |
How to diagnose Fragile X syndrome ? | Is genetic testing available for fragile X syndrome? Yes, genetic testing is available for fragile X syndrome. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the diagnosis of an FMR1-related disorder (including fragile X syndrome) has been confirmed in a fam... | Fragile X syndrome |
What are the treatments for Fragile X syndrome ? | How might fragile X syndrome be treated? There is no specific treatment available for fragile X syndrome. Management of this condition is generally supportive and may include: recognizing the need for special education and avoiding excessive stimulation, which may help with behavioral problems early educational interv... | Fragile X syndrome |
What are the symptoms of Otodental dysplasia ? | What are the signs and symptoms of Otodental dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Otodental 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 Dicti... | Otodental dysplasia |
What is (are) Crigler Najjar syndrome, type 1 ? | Crigler Najjar syndrome, type 1 is an inherited disorder in which bilirubin, a substance made by the liver, cannot be broken down. This condition occurs when the enzyme that normally converts bilirubin into a form that can easily be removed from the body does not work correctly. Without this enzyme, bilirubin can build... | Crigler Najjar syndrome, type 1 |
What are the symptoms of Crigler Najjar syndrome, type 1 ? | What are the signs and symptoms of Crigler Najjar syndrome, type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Crigler Najjar syndrome, 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 M... | Crigler Najjar syndrome, type 1 |
What are the symptoms of X-linked Charcot-Marie-Tooth disease type 3 ? | What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 3. If the information is available, the table below includes how often the symptom is seen in people with this cond... | X-linked Charcot-Marie-Tooth disease type 3 |
What is (are) 2-methylbutyryl-CoA dehydrogenase deficiency ? | 2-methylbutyryl-CoA dehydrogenase deficiency is a metabolic disorder in which individuals lack adequate levels of an enzyme called 2-methylbutyryl-CoA dehydrogenase. This enzyme assists in the processing of a particular amino acid called isoleucine. The inability to process isoleucine correctly leads to the buildup of ... | 2-methylbutyryl-CoA dehydrogenase deficiency |
What are the symptoms of 2-methylbutyryl-CoA dehydrogenase deficiency ? | What are the signs and symptoms of 2-methylbutyryl-CoA dehydrogenase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 2-methylbutyryl-CoA dehydrogenase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this co... | 2-methylbutyryl-CoA dehydrogenase deficiency |
What are the symptoms of Exstrophy of the bladder ? | What are the signs and symptoms of Exstrophy of the bladder? The Human Phenotype Ontology provides the following list of signs and symptoms for Exstrophy of the bladder. 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... | Exstrophy of the bladder |
What is (are) Long QT syndrome ? | Long QT syndrome is a disorder of the hearts electrical activity that can cause sudden, uncontrollable, and irregular heartbeats (arrhythmia), which may lead to sudden death. Long QT syndrome can be detected by electrocardiogram (EKG). It can be caused by a variety of different gene mutations (changes). It can also be ... | Long QT syndrome |
What are the symptoms of Long QT syndrome ? | What are the signs and symptoms of Long QT syndrome? Signs and symptoms of the arrhythmias experienced by people with long QT syndrome includes unexplained fainting, seizures, drowning or near drowning, and sudden cardiac arrest or death. You can read more about these and other symptoms of long QT syndrome on the Natio... | Long QT syndrome |
What causes Long QT syndrome ? | What causes long QT syndrome? Acquired long QT syndrome can be caused by certain medicines and medical conditions. Some medications that cause long QT syndrome include antihistamines and decongestants, antibiotics, antidepressants, and cholesterol-lowering medicines. Examples of medical conditions that can cause long Q... | Long QT syndrome |
How to diagnose Long QT syndrome ? | How is long QT syndrome diagnosed? Long QT syndrome is diagnosed on the basis of electrocardiographic (EKG) findings, clinical findings such as congenital deafness or unexplained fainting, and family history of long QT syndrome or sudden cardiac death. Genetic testing is often performed in families in whom the diagnosi... | Long QT syndrome |
What is (are) Central serous chorioretinopathy ? | Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from the choroid (the blood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Sign... | Central serous chorioretinopathy |
What is (are) Fanconi renotubular syndrome ? | Fanconi syndrome is a condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms... | Fanconi renotubular syndrome |
What are the symptoms of Fanconi renotubular syndrome ? | What are the signs and symptoms of Fanconi renotubular syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fanconi renotubular 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 Medline... | Fanconi renotubular syndrome |
What are the symptoms of 19p13.12 microdeletion syndrome ? | What are the signs and symptoms of 19p13.12 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 19p13.12 microdeletion 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 M... | 19p13.12 microdeletion syndrome |
What is (are) Pretibial epidermolysis bullosa ? | Pretibial epidermolysis bullosa is a rare form of epidermolysis bullosa, a condition characterized by fragile skin that blisters easily in response to minor injury or friction. In the pretibial form, specifically, the characteristic blisters and skin erosions develop predominantly on the front of the lower legs (known ... | Pretibial epidermolysis bullosa |
What are the symptoms of Pretibial epidermolysis bullosa ? | What are the signs and symptoms of Pretibial epidermolysis bullosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Pretibial epidermolysis bullosa. 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... | Pretibial epidermolysis bullosa |
What are the symptoms of Dihydropyrimidinase deficiency ? | What are the signs and symptoms of Dihydropyrimidinase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Dihydropyrimidinase 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 Med... | Dihydropyrimidinase deficiency |
What are the symptoms of Radio-ulnar synostosis type 1 ? | 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 Medli... | Radio-ulnar synostosis type 1 |
What is (are) Hemifacial microsomia ? | Hemifacial microsomia (HFM) is a condition in which part of one side of the face is underdeveloped and does not grow normally. The eye, cheekbone, lower jaw, facial nerves, muscles, and neck may be affected. Other findings may include hearing loss from underdevelopment of the middle ear; a small tongue; and macrostomia... | Hemifacial microsomia |
What are the symptoms of Hemifacial microsomia ? | What are the signs and symptoms of Hemifacial microsomia? People with hemifacial microsomia may have various signs and symptoms, including: Facial asymmetry Abnormalities of the outer ear such as absence, reduced size (hypoplasia), and/or displacement Small and/or flattened maxillary, temporal, and malar bones Deafness... | Hemifacial microsomia |
What causes Hemifacial microsomia ? | What causes hemifacial microsomia? For most people with hemifacial microsomia, the cause is unknown. It is believed that something occurs in the early stages of development, such as a disturbance of the blood supply to the first and second branchial arches in the first 6 to 8 weeks of pregnancy. Studies have suggested ... | Hemifacial microsomia |
Is Hemifacial microsomia inherited ? | Is hemifacial microsomia inherited? Hemifacial microsomia most often occurs in a single individual in a family and is not inherited. If the condition is caused by a chromosomal abnormality, it may be inherited from one affected parent or it may result from a new abnormality in the chromosome and occur in people with no... | Hemifacial microsomia |
What are the treatments for Hemifacial microsomia ? | How might hemifacial microsomia be treated? Treatment of hemifacial microsomia varies depending on the features present and the severity in each affected person. Various types of surgeries may be needed in many cases. Some children need breathing support or a tracheostomy soon after birth if the jaw is severely affecte... | Hemifacial microsomia |
What are the symptoms of Spondyloepimetaphyseal dysplasia x-linked with mental deterioration ? | What are the signs and symptoms of Spondyloepimetaphyseal dysplasia x-linked with mental deterioration? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia x-linked with mental deterioration. If the information is available, the table below includes how of... | Spondyloepimetaphyseal dysplasia x-linked with mental deterioration |
What are the symptoms of Nystagmus, congenital motor, autosomal recessive ? | 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... | Nystagmus, congenital motor, autosomal recessive |
What is (are) N-acetylglutamate synthetase deficiency ? | N-acetylglutamate synthase deficiency is type of urea cycle disorder. It causes toxic levels of ammonia to accumulate in the blood. Signs and symptoms in newborns may include a lack of energy, unwillingness to eat, seizures, unusual body movements, and poorly controlled breathing or body temperature. Complications may ... | N-acetylglutamate synthetase deficiency |
What are the symptoms of N-acetylglutamate synthetase deficiency ? | What are the signs and symptoms of N-acetylglutamate synthetase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for N-acetylglutamate synthetase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | N-acetylglutamate synthetase deficiency |
What are the symptoms of Hemifacial hyperplasia strabismus ? | What are the signs and symptoms of Hemifacial hyperplasia strabismus? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemifacial hyperplasia strabismus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | Hemifacial hyperplasia strabismus |
What are the symptoms of Hypochromic microcytic anemia with iron overload ? | What are the signs and symptoms of Hypochromic microcytic anemia with iron overload? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypochromic microcytic anemia with iron overload. If the information is available, the table below includes how often the symptom is seen in people with... | Hypochromic microcytic anemia with iron overload |
What is (are) Cockayne syndrome type III ? | Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, microcephaly, and impaired nervous system development. Other symptoms may include hearing loss, toot... | Cockayne syndrome type III |
What are the symptoms of Cockayne syndrome type III ? | What are the signs and symptoms of Cockayne syndrome type III? The Human Phenotype Ontology provides the following list of signs and symptoms for Cockayne syndrome type III. 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... | Cockayne syndrome type III |
What is (are) Nail-patella syndrome ? | Nail-patella syndrome is an inherited condition characterized by abnormalities of the nails, knees, elbows, and pelvis. Some affected people may also experience problems in other areas of the body such as the kidneys and eyes. The severity of the condition and the associated signs and symptoms can vary significantly fr... | Nail-patella syndrome |
What are the symptoms of Nail-patella syndrome ? | What are the signs and symptoms of Nail-patella syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nail-patella 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 D... | Nail-patella syndrome |
What is (are) 21-hydroxylase deficiency ? | 21-hydroxylase-deficiency is a genetic disorder of cortisol biosynthesis. It is caused by mutations in the human 21-hydroxylase gene (CYP21A2). Symptoms of 21-hydroxylase deficiency vary, but can involve salt-wasting crises in infants; ambiguous genitalia in female infants; excessive hair, deep voice, abnormal periods,... | 21-hydroxylase deficiency |
What are the symptoms of 21-hydroxylase deficiency ? | What are the signs and symptoms of 21-hydroxylase deficiency? Symptoms can vary greatly from patient to patient with 21-hydroxylase deficiency, as a result distinct forms of this deficiency have been recognized. Three common forms include classical salt wasting, simple virilizing, and nonclassical. The Human Phenotype ... | 21-hydroxylase deficiency |
What causes 21-hydroxylase deficiency ? | What causes salt-wasting, simple virilizing, and nonclassical 21-hydroxylase-deficient congenital adrenal hyperplasia? Salt-wasting, simple virilizing, and late-onset 21-hydroxylase deficiency are all caused by mutations in the human 21-hydroxylase gene (CYP21A2). | 21-hydroxylase deficiency |
Is 21-hydroxylase deficiency inherited ? | How is 21-hydroxylase-deficient congenital adrenal hyperplasia passed through families? 21-hydroxylase-deficient congenital adrenal hyperplasia has an autosomal recessive pattern of inheritance. In autosomal recessive conditions, both parents carry one copy of a mutated gene for the disorder. They have a 25 percent cha... | 21-hydroxylase deficiency |
How to diagnose 21-hydroxylase deficiency ? | Is genetic testing for 21-hydroxylase-deficient congenital adrenal hyperplasia available? Yes. Genetic testing of 21-hydroxylase-deficient congenital adrenal hyperplasia is available. In most people with this condition, the genetic test result can be used to predict disease severity. Click here to view a list of labora... | 21-hydroxylase deficiency |
What are the treatments for 21-hydroxylase deficiency ? | What is the goal for treating 21-hydroxylase-deficient congenital adrenal hyperplasia? The objectives for treating 21-hydroxylase deficiency differ with age. In childhood, the overall goal is to replace cortisol. Obtaining hormonal balance is important and patients growth velocity and bone age is monitored. Routine ana... | 21-hydroxylase deficiency |
What is (are) Urachal cancer ? | Urachal cancer is a rare type of bladder cancer, making up less than 1% of all bladder cancers. Only about 350 cases have been described in the medical literature to date. The urachus is a primitive structure which before birth connected the bellybutton and the bladder. This connection normally disappears before birth,... | Urachal cancer |
What are the treatments for Urachal cancer ? | How might urachal cancer be treated? Surgical resection in the form of partial (segmental) or radical cystoprostatectomy is the main form of treatment. However, similar results are seen with a conservative surgery that involves partial cystectomy with umbilicotomy and removal of the urachus. The role of chemotherapy an... | Urachal cancer |
What is (are) 22q11.2 duplication syndrome ? | 22q11.2 duplication syndrome is a condition caused by an extra copy of a small piece of chromosome 22 which contains about 30 to 40 genes. The features of this condition vary widely, even among members of the same family (intrafamilial variability). Affected individuals may have intellectual or learning disability, dev... | 22q11.2 duplication syndrome |
What are the symptoms of 22q11.2 duplication syndrome ? | What are the signs and symptoms of 22q11.2 duplication syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 22q11.2 duplication 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 Medline... | 22q11.2 duplication syndrome |
What are the symptoms of Treacher Collins syndrome 3 ? | What are the signs and symptoms of Treacher Collins syndrome 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Treacher Collins syndrome 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... | Treacher Collins syndrome 3 |
What is (are) Carbon baby syndrome ? | Carbon baby syndrome, also known as universal acquired melanosis, is a rare form of hyperpigmentation. The skin of affected infants progressively darkens over the first years of life in the absence of other symptoms. The cause of the condition is unknown. | Carbon baby syndrome |
What are the symptoms of Corpus callosum agenesis double urinary collecting ? | What are the signs and symptoms of Corpus callosum agenesis double urinary collecting? The Human Phenotype Ontology provides the following list of signs and symptoms for Corpus callosum agenesis double urinary collecting. If the information is available, the table below includes how often the symptom is seen in people ... | Corpus callosum agenesis double urinary collecting |
What is (are) Microgastria limb reduction defect ? | Microgastria limb reduction defect is a rare disorder with less than 60 previously reported cases. Children born with this condition have a small stomach (microgastria) and limb abnormalities. Symptoms may include vomiting, aspiration pneumonia and growth problems. Abnormalities involving the heart, lungs, kidney and g... | Microgastria limb reduction defect |
What are the symptoms of Microgastria limb reduction defect ? | What are the signs and symptoms of Microgastria limb reduction defect? The Human Phenotype Ontology provides the following list of signs and symptoms for Microgastria limb reduction defect. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | Microgastria limb reduction defect |
What are the symptoms of Deafness, autosomal dominant nonsyndromic sensorineural 22 ? | What are the signs and symptoms of Deafness, autosomal dominant nonsyndromic sensorineural 22? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, autosomal dominant nonsyndromic sensorineural 22. If the information is available, the table below includes how often the symptom is... | Deafness, autosomal dominant nonsyndromic sensorineural 22 |
What is (are) Arginase deficiency ? | Arginase deficiency is an inherited metabolic condition in which the body is unable to process the amino acid (a building block of protein), arginine. Consequently, people affected by the condition have high levels of arginine in the blood and may also experience episodes of hyperammonemia (an accumulation of ammonia i... | Arginase deficiency |
What are the symptoms of Arginase deficiency ? | What are the signs and symptoms of Arginase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Arginase 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 Medical Dicti... | Arginase deficiency |
What are the treatments for Arginase deficiency ? | How might arginase deficiency be treated? The treatment and management of arginase deficiency is generally focused on lowering arginine levels and preventing hyperammonemia (an accumulation of ammonia in the blood). This may be accomplished through dietary modifications and the use of certain medications (called nitrog... | Arginase deficiency |
What are the symptoms of His bundle tachycardia ? | What are the signs and symptoms of His bundle tachycardia? The Human Phenotype Ontology provides the following list of signs and symptoms for His bundle tachycardia. 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... | His bundle tachycardia |
What are the symptoms of Al Gazali Sabrinathan Nair syndrome ? | What are the signs and symptoms of Al Gazali Sabrinathan Nair syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Al Gazali Sabrinathan Nair syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | Al Gazali Sabrinathan Nair syndrome |
What are the symptoms of Schneckenbecken dysplasia ? | What are the signs and symptoms of Schneckenbecken dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Schneckenbecken 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 M... | Schneckenbecken dysplasia |
What are the symptoms of Acrocephalopolydactylous dysplasia ? | What are the signs and symptoms of Acrocephalopolydactylous dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrocephalopolydactylous dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | Acrocephalopolydactylous dysplasia |
What is (are) Hydrops fetalis ? | Hydrops fetalis is a serious condition in which abnormal amounts of fluid build up in two or more body areas of a fetus or newborn. There are two types of hydrops fetalis: immune and nonimmune. Immune hydrops fetalis is a complication of a severe form of Rh incompatibility. Rh compatibility causes massive red blood cel... | Hydrops fetalis |
What are the symptoms of Hydrops fetalis ? | What are the signs and symptoms of Hydrops fetalis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrops fetalis. 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... | Hydrops fetalis |
What is (are) Cushing disease ? | Cushing disease is a condition caused by elevated levels of a hormone called cortisol. It is part of a group of diseases known as Cushings syndrome. The signs and symptoms include weight gain around the trunk and in the face, stretch marks, easy bruising, a hump on the upper back, muscle weakness, tiredness, thin bones... | Cushing disease |
What are the symptoms of Cushing disease ? | What are the signs and symptoms of Cushing disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Cushing 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... | Cushing disease |
What are the symptoms of Jensen syndrome ? | What are the signs and symptoms of Jensen syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Jensen 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... | Jensen syndrome |
What are the symptoms of Nestor-guillermo progeria syndrome ? | What are the signs and symptoms of Nestor-guillermo progeria syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nestor-guillermo progeria syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | Nestor-guillermo progeria syndrome |
What is (are) Familial Mediterranean fever ? | Familial Mediterranean fever (FMF) is an inherited condition characterized by episodes of painful inflammation of the abdominal lining (peritonitis), lining surrounding the lungs (pleurisy), and joints (arthralgia and occasionally arthritis). These episodes are often accompanied by fever and sometimes a characteristic... | Familial Mediterranean fever |
What are the symptoms of Familial Mediterranean fever ? | What are the signs and symptoms of Familial Mediterranean fever? Familial Mediterranean fever (FMF) is characterized by relatively short, usually 1- to 3-day, episodes of fever accompanied by abdominal pain, chest pain, joint pain, pelvic pain, muscle aches, and/or a skin rash. The muscle pain is often confused with fi... | Familial Mediterranean fever |
Is Familial Mediterranean fever inherited ? | How is familial Mediterranean fever (FMF) inherited? FMF is almost always inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and a... | Familial Mediterranean fever |
How to diagnose Familial Mediterranean fever ? | How is familial Mediterranean fever (FMF) diagnosed? In making a diagnosis of FMF, doctors take all of these factors into account: Whether the person has the clinical symptoms common for the disease and whether the symptoms are recurrent. How he or she responds to colchicine treatment. Usually a positive family history... | Familial Mediterranean fever |
What are the treatments for Familial Mediterranean fever ? | How might familial Mediterranean fever (FMF) be treated? Currently, there is no known cure for FMF. Physicians can only treat the symptoms of the disease. A common therapy for FMF is daily use of the drug colchicine, a medicine that reduces inflammation. Many people require colchicine for life. This therapy has been su... | Familial Mediterranean fever |
What are the symptoms of Joubert syndrome 2 ? | What are the signs and symptoms of Joubert syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Joubert 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 Diction... | Joubert syndrome 2 |
What are the symptoms of Deafness nephritis anorectal malformation ? | What are the signs and symptoms of Deafness nephritis anorectal malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness nephritis anorectal malformation. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | Deafness nephritis anorectal malformation |
What are the symptoms of Symmetrical thalamic calcifications ? | What are the signs and symptoms of Symmetrical thalamic calcifications? The Human Phenotype Ontology provides the following list of signs and symptoms for Symmetrical thalamic calcifications. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | Symmetrical thalamic calcifications |
What are the symptoms of Mucolipidosis III alpha/beta ? | What are the signs and symptoms of Mucolipidosis III alpha/beta? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucolipidosis III alpha/beta. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... | Mucolipidosis III alpha/beta |
What are the symptoms of Chitayat Meunier Hodgkinson syndrome ? | What are the signs and symptoms of Chitayat Meunier Hodgkinson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chitayat Meunier Hodgkinson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | Chitayat Meunier Hodgkinson syndrome |
What are the symptoms of Hairy nose tip ? | What are the signs and symptoms of Hairy nose tip? The Human Phenotype Ontology provides the following list of signs and symptoms for Hairy nose tip. 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 l... | Hairy nose tip |
What is (are) Ribbing disease ? | Ribbing disease is a rare bone disease that causes bony growths on the long bones, such as the thigh bone and shine bone. Ribbing disease affects women more frequently than men. The most common symptom is pain. A single study of 14 patients found an association between Ribbing disease and impaired exercise tolerance an... | Ribbing disease |
What are the symptoms of Ribbing disease ? | What are the signs and symptoms of Ribbing disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Ribbing 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... | Ribbing disease |
What are the symptoms of Phosphoglycerate mutase deficiency ? | What are the signs and symptoms of Phosphoglycerate mutase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Phosphoglycerate mutase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | Phosphoglycerate mutase deficiency |
What are the symptoms of Miles-Carpenter x-linked mental retardation syndrome ? | What are the signs and symptoms of Miles-Carpenter x-linked mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Miles-Carpenter x-linked mental retardation syndrome. If the information is available, the table below includes how often the symptom is seen in peo... | Miles-Carpenter x-linked mental retardation syndrome |
What are the symptoms of Limb-girdle muscular dystrophy, type 2G ? | What are the signs and symptoms of Limb-girdle muscular dystrophy, type 2G? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy, type 2G. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | Limb-girdle muscular dystrophy, type 2G |
What are the symptoms of Porencephaly cerebellar hypoplasia internal malformations ? | What are the signs and symptoms of Porencephaly cerebellar hypoplasia internal malformations? The Human Phenotype Ontology provides the following list of signs and symptoms for Porencephaly cerebellar hypoplasia internal malformations. If the information is available, the table below includes how often the symptom is s... | Porencephaly cerebellar hypoplasia internal malformations |
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