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What are the symptoms of COACH syndrome ? | What are the signs and symptoms of COACH syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for COACH 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 l... | |
How to diagnose COACH syndrome ? | How is COACH syndrome diagnosed? While there are no official guidelines, a diagnosis of COACH syndrome can be made when an individual is found to have both a particular malformation of the brain called cerebellar vermis hypoplasia (also referred to as the "molar tooth sign" due to the characteristic look of this malfor... | |
What are the symptoms of Lipidosis with triglycerid storage disease ? | What are the signs and symptoms of Lipidosis with triglycerid storage disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipidosis with triglycerid storage disease. If the information is available, the table below includes how often the symptom is seen in people with this condit... | |
What is (are) Ataxia telangiectasia ? | Ataxia telangiectasia (A-T) is rare condition that affects the nervous system, the immune system, and many other parts of the body. Signs and symptoms of the condition usually begin in early childhood, often before age 5. The condition is typically characterized by cerebellar ataxia (uncoordinated muscle movements), oc... | |
What are the symptoms of Ataxia telangiectasia ? | What are the signs and symptoms of Ataxia telangiectasia? Ataxia-telangiectasia affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. Affected children typically... | |
What is (are) Periventricular heterotopia ? | Periventricular heterotopia is a condition in which the nerve cells (neurons) do not migrate properly during the early development of the fetal brain from about the 6th week to the 24th week of pregnancy. Affected people typically develop recurrent seizures (epilepsy) beginning in mid-adolescence. Intelligence is gener... | |
What are the symptoms of Periventricular heterotopia ? | What are the signs and symptoms of periventricular nodular heterotopia? The condition is first noticed when seizures appear, often during the teenage years. The nodules around the ventricles are then typically discovered when magnetic resonance imaging (MRI) studies are done. Patients usually have normal intelligence, ... | |
How to diagnose Periventricular heterotopia ? | What are the recommended evaluations for patients diagnosed with periventricular nodular heterotopia? The following evaluations are recommended:[1823] Imaging exams of the brain to establish the diagnosis Evaluation by a neurologist Evaluation by a doctor specialized in epilepsy if seizures are present Psychiatric ... | |
What are the treatments for Periventricular heterotopia ? | How might periventricular nodular heterotopia be treated? Treatment of epilepsy generally follows principles for a seizure disorder caused by a known structural brain abnormality; carbamezipine is most often used, because most patients have focal seizures. However, antiepileptic drugs may be selected based on side effe... | |
What are the symptoms of Ameloonychohypohidrotic syndrome ? | What are the signs and symptoms of Ameloonychohypohidrotic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ameloonychohypohidrotic 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... | |
What is (are) Huntington disease ? | Huntington disease (HD) is an inherited condition that causes progressive degeneration of neurons in the brain. Signs and symptoms usually develop between ages 35 to 44 years and may include uncontrolled movements, loss of intellectual abilities, and various emotional and psychiatric problems. People with HD usually li... | |
What are the symptoms of Huntington disease ? | What are the signs and symptoms of Huntington disease? Huntington disease (HD) is a progressive disorder that causes motor, cognitive, and psychiatric signs and symptoms. On average, most people begin developing features of HD between ages 35 and 44. Signs and symptoms vary by stage and may include: Early stage: Behavi... | |
What causes Huntington disease ? | What causes Huntington disease? Huntington disease (HD) is caused by a change (mutation) in the HTT gene. This gene gives instructions for making a protein called huntingtin. The exact function of this protein is unclear, but it appears to be important to nerve cells (neurons) in the brain. The HTT gene mutation that c... | |
Is Huntington disease inherited ? | How is Huntington disease inherited? Huntington disease (HD) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one of the 2 copies of the HTT gene is enough to cause the condition. When a person with HD has children, each child has a 50% (1 in 2) chance to inherit the muta... | |
How to diagnose Huntington disease ? | Is genetic testing available for Huntington disease? Yes. Testing of adults at risk for Huntington disease (HD) who have no symptoms of the disease is called predictive testing. Whether to have predictive testing requires careful thought, including pre-test and post-test genetic counseling. This is particularly importa... | |
What are the treatments for Huntington disease ? | How might Huntington disease be treated? Unfortunately, there is currently no cure for Huntington disease (HD). The current goal of treatment is to slow down the course of the disease and help affected people function for as long and as comfortably as possible. Current treatment strategies involve the use of various me... | |
What is (are) Vohwinkel syndrome ? | Vohwinkel syndrome is an inherited condition that affects the skin. People with the "classic form" generally have honeycomb-patterned calluses on the palms of the hands and the soles of the feet (palmoplantar keratoses); constricting bands of tissue on the fingers and toes which can cause amputation; starfish-shaped, t... | |
What are the symptoms of Vohwinkel syndrome ? | What are the signs and symptoms of Vohwinkel syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Vohwinkel 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 Diction... | |
What is (are) Uncombable hair syndrome ? | Uncombable hair syndrome (UHS) is a rare disorder of the hair shaft of the scalp. It usually is characterized by silvery-blond or straw-colored hair that is disorderly; stands out from the scalp; and cannot be combed flat. It may first become apparent from 3 months of age to 12 years of age. UHS is likely inherited in ... | |
What are the symptoms of Uncombable hair syndrome ? | What are the signs and symptoms of Uncombable hair syndrome? Uncombable hair syndrome (UHS) may first become apparent any time between the ages of 3 months and 12 years. It only affects the scalp hair. The quantity of hair remains normal, but the hair often grows slowly. Over time the hair becomes progressively silvery... | |
What causes Uncombable hair syndrome ? | What causes uncombable hair syndrome? The stiffness of the hair in uncombable hair syndrome (UHS) is likely due to the triangular shape of the hair shaft that is seen in cross section in affected people. It has been suggested that the condition may result from premature keratinization (development of keratin) of the in... | |
Is Uncombable hair syndrome inherited ? | Is uncombable hair syndrome inherited? Uncombable hair syndrome (UHS) is thought to be inherited in an autosomal dominant manner with reduced penetrance. Autosomal dominant means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. When a pe... | |
How to diagnose Uncombable hair syndrome ? | How is uncombable hair syndrome diagnosed? A diagnosis of uncombable hair syndrome (UHS) is made by observing the characteristic symptoms of the condition, as well observing the hair shaft under a special microscope. When the individual hair strands are viewed under a microscope, the hair is either triangular or kidney... | |
What are the treatments for Uncombable hair syndrome ? | How might uncombable hair syndrome be treated? There is no definitive treatment for uncombable hair syndrome, but the condition usually improves or resolves on its own with the onset of puberty. Gentle hair care is generally recommended using conditioners and soft brushes, along with avoiding harsh hair treatments such... | |
What are the symptoms of Cataract Hutterite type ? | What are the signs and symptoms of Cataract Hutterite type? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract Hutterite type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medic... | |
What are the symptoms of Natal teeth, intestinal pseudoobstruction and patent ductus ? | What are the signs and symptoms of Natal teeth, intestinal pseudoobstruction and patent ductus? The Human Phenotype Ontology provides the following list of signs and symptoms for Natal teeth, intestinal pseudoobstruction and patent ductus. If the information is available, the table below includes how often the symptom ... | |
What are the symptoms of Bardet-Biedl syndrome 6 ? | What are the signs and symptoms of Bardet-Biedl syndrome 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 6. 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 Medic... | |
What is (are) Cleidocranial dysplasia ? | Cleidocranial dysplasia is a condition that primarily affects the development of the bones and teeth. Characteristic features of this condition include underdeveloped or absent collarbones (clavicles) and delayed closing of the spaces between the bones of the skull (fontanels). Individuals with cleidocranial dysplasia ... | |
What are the symptoms of Cleidocranial dysplasia ? | What are the signs and symptoms of Cleidocranial dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleidocranial 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 Medic... | |
What causes Cleidocranial dysplasia ? | What causes cleidocranial dysplasia? Cleidocranial dysplasia is caused by mutations in the RUNX2 (CBFA1) gene. The RUNX2 gene provides instructions for making a protein that is involved in bone and cartilage development and maintenance. Researchers believe that the RUNX2 protein acts as a "master switch," regulating a ... | |
Is Cleidocranial dysplasia inherited ? | How is cleidocranial dysplasia inherited? Cleidocranial dysplasia is inherited in an autosomal dominant manner, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from de novo... | |
What are the treatments for Cleidocranial dysplasia ? | What treatment is available for cleidocranial dysplasia? Because there is no specific treatment for cleidocranial dysplasia, treatment is based on an individual's symptoms. Affected individuals typically require dental care due to various teeth abnormalities. People with cleidocranial dysplasia may receive supplements ... | |
What is (are) Dentatorubral-pallidoluysian atrophy ? | Dentatorubral-pallidoluysian atrophy (DRPLA) is a progressive brain disorder that causes involuntary movements; mental and emotional problems; and a decline in thinking ability. The average age of onset of DRPLA is 30 years, but the condition can appear anytime from infancy to mid-adulthood. Specific signs and symptoms... | |
What are the symptoms of Dentatorubral-pallidoluysian atrophy ? | What are the signs and symptoms of Dentatorubral-pallidoluysian atrophy? The signs and symptoms of DRPLA differ somewhat between affected children and adults. When DRPLA appears before age 20, it most often involves episodes of involuntary muscle jerking or twitching (myoclonus); seizures; behavioral changes; intellect... | |
What causes Dentatorubral-pallidoluysian atrophy ? | What causes dentatorubral-pallidoluysian atrophy (DRPLA)? DRPLA is caused by a mutation in the ATN1 gene. This gene provides instructions for making a protein called atrophin 1. Although the function of atrophin 1 is unclear, it likely plays an important role in nerve cells (neurons) in many areas of the brain. The ATN... | |
Is Dentatorubral-pallidoluysian atrophy inherited ? | How is dentatorubral-pallidoluysian atrophy (DRPLA) inherited? | |
What are the treatments for Dentatorubral-pallidoluysian atrophy ? | How might dentatorubral-pallidoluysian atrophy (DRPLA) be treated? There is no cure for DRPLA; treatment is generally symptomatic and supportive. Management of signs and symptoms may include: Treatment of seizures with anti-epileptic drugs Treatment of psychiatric problems with appropriate psychotropic medications Ada... | |
What are the symptoms of Ichthyosis hystrix, Curth Macklin type ? | What are the signs and symptoms of Ichthyosis hystrix, Curth Macklin type? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis hystrix, Curth Macklin type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | |
What are the symptoms of Fructosuria ? | What are the signs and symptoms of Fructosuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Fructosuria. 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... | |
What are the symptoms of Severe combined immunodeficiency, atypical ? | What are the signs and symptoms of Severe combined immunodeficiency, atypical? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe combined immunodeficiency, atypical. If the information is available, the table below includes how often the symptom is seen in people with this condit... | |
What is (are) Laryngomalacia ? | Laryngomalacia is an abnormality of the cartilage of the voice box (larynx) that is present at birth. The condition is characterized by "floppy" cartilage collapsing over the larynx when air is drawn into the lungs (inspiration), leading to airway obstruction. This obstruction causes a noise which may sound like nasal ... | |
What are the symptoms of Laryngomalacia ? | What are the signs and symptoms of Laryngomalacia? The Human Phenotype Ontology provides the following list of signs and symptoms for Laryngomalacia. 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... | |
Is Laryngomalacia inherited ? | Is laryngomalacia inherited? Laryngomalacia may be inherited in some instances. Only a few cases of familial laryngomalacia (occurring in more than one family member) have been described in the literature. In some of these cases, autosomal dominant inheritance has been suggested. Laryngomalacia has also been reported a... | |
What is (are) Erythropoietic protoporphyria ? | Erythropoietic protoporphyria is a type of porphyria. Porphyrias are caused by an abnormality in the heme production process. Heme is essential in enabling our blood cells to carry oxygen and in breaking down chemical compounds in the liver. Erythropoietic protoporphyria is caused by impaired activity of ferrocheletase... | |
What are the symptoms of Erythropoietic protoporphyria ? | What are the signs and symptoms of Erythropoietic protoporphyria? The Human Phenotype Ontology provides the following list of signs and symptoms for Erythropoietic protoporphyria. 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... | |
What causes Erythropoietic protoporphyria ? | What is the genetic basis of erythropoietic protoporphyria? Erythropoietic protoporphyria is caused by mutations in the FECH gene. | |
Is Erythropoietic protoporphyria inherited ? | How is erythropoietic protoporphyria (EPP) inherited? EPP is inherited in an autosomal recessive manner. In most cases, affected individuals have one severe (loss-of-function) mutation that is inherited from one parent, and another weak (low-expression) mutation that is inherited from the other parent. In a small numbe... | |
What is (are) Fetal hydantoin syndrome ? | Fetal hydantoin syndrome is a disorder that is caused by exposure of a fetus to phenytoin, a drug commonly prescribed for epilepsy. Not all infants exposed to phenytoin will be affected with the disorder. Symptoms in affected individuals may include abnormalities of the skull and facial features, growth deficiencies, u... | |
What are the symptoms of Fetal hydantoin syndrome ? | What are the signs and symptoms of Fetal hydantoin syndrome? There is a wide range in the nature and severity of characteristics associated with fetal hydantoin syndrome. Of infants born to women who used phenytoin during pregnancy, 10-30% are reported to show some of the characteristics associated with this syndrome. ... | |
What are the symptoms of Transient bullous dermolysis of the newborn ? | What are the signs and symptoms of Transient bullous dermolysis of the newborn? The Human Phenotype Ontology provides the following list of signs and symptoms for Transient bullous dermolysis of the newborn. If the information is available, the table below includes how often the symptom is seen in people with this cond... | |
What are the symptoms of Lymphedema and cerebral arteriovenous anomaly ? | What are the signs and symptoms of Lymphedema and cerebral arteriovenous anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Lymphedema and cerebral arteriovenous anomaly. If the information is available, the table below includes how often the symptom is seen in people with this ... | |
What are the symptoms of Mesomelia-synostoses syndrome ? | What are the signs and symptoms of Mesomelia-synostoses syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelia-synostoses 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 Medli... | |
What is (are) Maternally inherited diabetes and deafness ? | Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin, which regulates the amount of sugar in the blood... | |
What are the symptoms of Maternally inherited diabetes and deafness ? | What are the signs and symptoms of Maternally inherited diabetes and deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Maternally inherited diabetes and deafness. If the information is available, the table below includes how often the symptom is seen in people with this condit... | |
Is Maternally inherited diabetes and deafness inherited ? | How do people inherit MIDD? MIDD is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mitochondrial DNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, only females pass mitochondrial co... | |
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... | |
What are the symptoms of Orofaciodigital syndrome 8 ? | What are the signs and symptoms of Orofaciodigital syndrome 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 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... | |
What is (are) 46,XX testicular disorder of sex development ? | 46,XX testicular disorder of sex development is a condition in which a person with two X chromosomes (which is normally found in females) has a male appearance. More specifically, people with this condition have male external genitalia, ranging from normal to ambiguous. Other common signs and symptoms include small tes... | |
What are the symptoms of 46,XX testicular disorder of sex development ? | What are the signs and symptoms of 46,XX testicular disorder of sex development? The Human Phenotype Ontology provides the following list of signs and symptoms for 46,XX testicular disorder of sex development. If the information is available, the table below includes how often the symptom is seen in people with this co... | |
What are the symptoms of Optic atrophy 1 and deafness ? | What are the signs and symptoms of Optic atrophy 1 and deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 1 and deafness. 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... | |
What are the symptoms of Mandibuloacral dysplasia ? | What are the signs and symptoms of Mandibuloacral dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Mandibuloacral 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 Med... | |
What are the symptoms of Anemia due to Adenosine triphosphatase deficiency ? | What are the signs and symptoms of Anemia due to Adenosine triphosphatase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Anemia due to Adenosine triphosphatase deficiency. If the information is available, the table below includes how often the symptom is seen in people wi... | |
What are the symptoms of Dystonia 7, torsion ? | What are the signs and symptoms of Dystonia 7, torsion? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 7, torsion. 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... | |
What are the symptoms of Rheumatoid nodulosis ? | What are the signs and symptoms of Rheumatoid nodulosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Rheumatoid nodulosis. 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... | |
What are the symptoms of Cleft hand absent tibia ? | What are the signs and symptoms of Cleft hand absent tibia? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft hand absent tibia. 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 Medic... | |
What is (are) Pulmonary arterial hypertension ? | Pulmonary arterial hypertension (PAH) is a progressive condition that affects the heart and lungs. It is characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. The most common signs and symptoms are shortness of breath (dy... | |
What are the symptoms of Pulmonary arterial hypertension ? | What are the signs and symptoms of Pulmonary arterial hypertension? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary arterial hypertension. 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... | |
What are the treatments for Pulmonary arterial hypertension ? | How might pulmonary arterial hypertension be treated? People with pulmonary arterial hypertension (PAH) benefit from receiving treatment at specialized centers. The Pulmonary Hypertension Association offers a Find a Doctor tool which may aid you in locating your nearest center. Treatment of serious or life threatening ... | |
What are the symptoms of Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ? | What are the signs and symptoms of Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. If the information is available, the table bel... | |
What is (are) Dowling-Degos disease ? | Dowling-Degos disease is a skin condition characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body's folds and creases. Other features may include dark lesions on the face and back that resemble blackheads, red bumps around the mouth that re... | |
What are the symptoms of Dowling-Degos disease ? | What are the signs and symptoms of Dowling-Degos disease? Dowling-Degos disease is characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body's folds and creases. These skin changes typically first appear in the armpits and groin area and can ... | |
What are the treatments for Dowling-Degos disease ? | Is there a medicine that can cure Dowling-Degos disease? There is no cure for Dowling-Degos disease. Many different treatments have been tried for this condition, but none has proven effective in eliminating the symptoms for all patients. Topical retinoic acids, topical steroids, hydroquinone, tretinoin, and systemic r... | |
What is (are) Glycogen storage disease type 7 ? | Glycogen storage disease type 7 (GSD7) is an inherited condition in which the body is unable to break down glycogen (a complex sugar) in the muscle cells. Because glycogen is an important source of energy, this can interfere with the normal functioning of muscle cells. The severity of the condition and the associated s... | |
What are the symptoms of Glycogen storage disease type 7 ? | What are the signs and symptoms of Glycogen storage disease type 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Glycogen storage disease type 7. 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... | |
What are the symptoms of Conotruncal heart malformations ? | What are the signs and symptoms of Conotruncal heart malformations? The Human Phenotype Ontology provides the following list of signs and symptoms for Conotruncal heart malformations. 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... | |
What is (are) Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 ? | Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 (BPES II) is a condition that mainly affects the development of the eyelids. People with this condition have a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and an upward fold of the skin of the lower eyelid near the inner cor... | |
What are the symptoms of Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 ? | What are the signs and symptoms of Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2. If the information is available, the table below includes how often ... | |
What is (are) PURA syndrome ? | PURA syndrome is a neurodevelopmental disorder characterized by mild to moderate developmental delay, learning disability, seizures and seizure-like movements, low muscle tone (hypotonia), feeding difficulties, and breathing problems. PURA syndrome occurs when one of a person's two copies of the PURA gene, located on c... | |
What is (are) Papillary renal cell carcinoma ? | Papillary renal cell carcinoma (PRCC) is a type of cancer that occurs in the kidneys. It accounts for about 10-15% of all renal cell carcinomas.Renal cell carcinomas are a type of kidney cancer that develop in the lining of very small tubes (tubules) in the kidney.The term "papillary" describes the finger-like projecti... | |
What are the symptoms of Papillary renal cell carcinoma ? | What are the signs and symptoms of Papillary renal cell carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Papillary renal cell carcinoma. 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... | |
What are the symptoms of Premature aging Okamoto type ? | What are the signs and symptoms of Premature aging Okamoto type? The Human Phenotype Ontology provides the following list of signs and symptoms for Premature aging Okamoto 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 Medline... | |
What are the symptoms of Kohlschutter Tonz syndrome ? | What are the signs and symptoms of Kohlschutter Tonz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kohlschutter Tonz 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... | |
What are the symptoms of Presenile dementia, Kraepelin type ? | What are the signs and symptoms of Presenile dementia, Kraepelin type? The Human Phenotype Ontology provides the following list of signs and symptoms for Presenile dementia, Kraepelin type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | |
What is (are) Glass-Chapman-Hockley syndrome ? | The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. Their mother, maternal aunt, and maternal grandm... | |
What are the symptoms of Glass-Chapman-Hockley syndrome ? | What are the signs and symptoms of Glass-Chapman-Hockley syndrome? Glass-Chapman-Hockley syndrome has only been described in one family with five affected family members in three generations. The signs and symptoms seen in the five affected family members varied, but included the following: Premature or early growing t... | |
Is Glass-Chapman-Hockley syndrome inherited ? | How is Glass-Chapman-Hockley syndrome inherited? Based on the only family that has been reported in the medical literature, to date, the syndrome is believed to be inherited in an autosomal dominant manner. | |
What are the treatments for Glass-Chapman-Hockley syndrome ? | How might Glass-Chapman-Hockley syndrome be treated? Surgery is typically the treatment for craniosynostosis and is based on the person's specific signs and symptoms. The goal is to increase the space in the front (anterior) part of the skull. The operation is usually performed when the person is between 9 to 12 months... | |
What is (are) Agenesis of the dorsal pancreas ? | Agenesis of the dorsal pancreas describes a congenital malformation of the pancreas in which either the entire dorsal pancreas or part of the dorsal pancreas fails to develop (complete agenesis or partial agenesis, respectively). Some individuals experience no symptoms, while others may develop hyperglycemia, diabetes ... | |
What are the symptoms of Agenesis of the dorsal pancreas ? | What are the signs and symptoms of Agenesis of the dorsal pancreas? The Human Phenotype Ontology provides the following list of signs and symptoms for Agenesis of the dorsal pancreas. 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... | |
What causes Agenesis of the dorsal pancreas ? | What causes agenesis of the dorsal pancreas? Partial or complete agenesis of the dorsal pancreas results from the failure of the dorsal pancreatic bud to form the body and tail of the pancreas in the developing fetus. It may occur from the absence, or regression of, the dorsal bud during fetal development. Heredity may... | |
What are the treatments for Agenesis of the dorsal pancreas ? | How might agenesis of the dorsal pancreas be treated? Because agenesis of the dorsal pancreas is considered rare and few cases have been reported in the literature, there is limited information about how the condition as a whole might be treated or managed. However, there is current information about how some of the si... | |
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... | |
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... | |
What are the symptoms of Griscelli syndrome type 3 ? | What are the signs and symptoms of Griscelli syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Griscelli syndrome type 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 MedlinePlus M... | |
What is (are) X-linked creatine deficiency ? | X-linked creatine deficiency is a rare condition that primarily affects the brain. Signs and symptoms generally develop before age 2 and may include mild to severe intellectual disability; delayed speech development, behavioral problems (i.e. autistic features, hyperactivity), and seizures. Less commonly, affected peop... | |
What are the symptoms of X-linked creatine deficiency ? | What are the signs and symptoms of X-linked creatine deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked creatine 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 Medline... | |
What is (are) Sacrococcygeal Teratoma ? | A sacrococcygeal teratoma is a tumor that grows at the base of the spine in a developing fetus. It occurs in one in 40,000 newborns and girls are four times more likely to be affected than boys. Though it is usually benign, there is a possibility that the teratoma could become malignant. As such, the recommended tre... | |
What are the treatments for Sacrococcygeal Teratoma ? | How might a sacrococcygeal teratoma be treated? The treatment for sacrococcygeal teratoma (SCT) typically involves surgery to remove the tumor. Surgery occurs either in the prenatal period or shortly after delivery. The timing is dependent on the size of the tumor and the associated symptoms. To learn more about both p... | |
What are the symptoms of Polyneuropathy mental retardation acromicria premature menopause ? | What are the signs and symptoms of Polyneuropathy mental retardation acromicria premature menopause? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyneuropathy mental retardation acromicria premature menopause. If the information is available, the table below includes how often th... | |
What are the symptoms of Duodenal ulcer due to antral G-cell hyperfunction ? | What are the signs and symptoms of Duodenal ulcer due to antral G-cell hyperfunction? The Human Phenotype Ontology provides the following list of signs and symptoms for Duodenal ulcer due to antral G-cell hyperfunction. If the information is available, the table below includes how often the symptom is seen in people wi... |
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