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How to diagnose Dextrocardia with situs inversus ? | How is dextrocardia with situs inversus diagnosed? In some cases, a diagnosis of dextrocardia with situs inversus is suspected based on the presence of concerning signs and symptoms; however, it is often discovered by chance when an x-ray or ultrasound is performed to investigate a different condition. Computed tomogra... |
What are the treatments for Dextrocardia with situs inversus ? | How might dextrocardia with situs inversus be treated? Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus. For example, infants born with congenital heart defects or other organ malformations may require surgery. The management of people aff... |
What is (are) Leiomyosarcoma ? | Leiomyosarcoma is a rare cancerous tumor that consists of smooth (involuntary) muscle cells. Leiomyosarcoma is a type of sarcoma. It spreads through the blood stream and can affect the lungs, liver, blood vessels, or any other soft tissue in the body. The exact cause of leiomyosarcoma is not known, although genetic and... |
What are the treatments for Leiomyosarcoma ? | How might leiomyosarcoma be treated? Treatment of leiomyosarcoma varies depending on the location and stage of the cancer. Surgery is typically the first choice for treatment, however, chemotherapy, targeted drugs, radiation therapy, and hormonal therapy may also be used to treat leiomyosarcoma. Additional information ... |
What are the symptoms of Ectopia pupillae ? | What are the signs and symptoms of Ectopia pupillae? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectopia pupillae. 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 ... |
What are the symptoms of Spondylometaphyseal dysplasia X-linked ? | What are the signs and symptoms of Spondylometaphyseal dysplasia X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia X-linked. 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 Radial ray hypoplasia choanal atresia ? | What are the signs and symptoms of Radial ray hypoplasia choanal atresia? The Human Phenotype Ontology provides the following list of signs and symptoms for Radial ray hypoplasia choanal atresia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... |
What is (are) Hypertryptophanemia ? | Hypertryptophanemia is a rare condition that likely occurs due to abnormalities in the body's ability to process the amino acid (a building block of proteins), tryptophan. People affected by this condition may experience intellectual disability and behavioral problems (i.e. periodic mood swings, exaggerated emotional r... |
What are the symptoms of Hypertryptophanemia ? | What are the signs and symptoms of Hypertryptophanemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertryptophanemia. 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 is (are) Hypolipoproteinemia ? | Hypolipoproteinemia refers to unusually low levels of fats (lipids) in the blood. Low lipid levels may be caused by rare genetic conditions, or be a sign of another disorder such as overactive thyroid, anemia, undernutrition, cancer, chronic infection, or impaired absorption of foods from the digestive tract. Associate... |
What are the symptoms of Hypolipoproteinemia ? | Are there other symptoms associated with hypolipoproteinemia? Some reports suggest that hypolipoproteinemia (low cholesterol levels) in general may increase the risk for development of fatty livers. |
What causes Hypolipoproteinemia ? | What causes familial or genetic hypolipoproteinemia? Cholesterol levels in general are thought to be influenced by genetic factors. Very low levels of lipids (hypolipoproteinemia) is known to be caused by certain genetic conditions, including hypobetalipoproteinemia, abetalipoproteinemia, and chylomicron retention dise... |
What are the symptoms of Trichodental syndrome ? | What are the signs and symptoms of Trichodental syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichodental 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... |
What is (are) Myotonic dystrophy ? | Myotonic dystrophy is an inherited condition that affects the muscles and other body systems. It is the most common form of muscular dystrophy that begins in adulthood, usually in a person's 20s or 30s. This condition is characterized by progressive muscle loss and weakness, particularly in the lower legs, hands, neck,... |
What are the symptoms of Myotonic dystrophy ? | What are the signs and symptoms of Myotonic dystrophy? Signs and symptoms of myotonic dystrophy often begin in a person's 20s or 30s, but they can begin at any age. Symptoms often include progressive muscle weakness and wasting (particularly in the legs, hands, neck and face); stiffness and tightness of the muscles; ca... |
What causes Myotonic dystrophy ? | What causes myotonic dystrophy? Myotonic dystrophy is caused by mutations called nucleotide repeat expansions in either the DMPK gene (in type 1) or the CNBP gene (in type 2). Nucleotide repeat expansions occur when a piece of DNA is abnormally repeated a number of times, which makes the gene unstable. In myotonic dyst... |
What are the treatments for Myotonic dystrophy ? | What treatment is available for for myotonic dystrophy? There is currently no cure or specific treatment for myotonic dystrophy. Treatment is aimed at managing symptoms and minimizing disability. Routine physical activity appears to help maintain muscle strength and endurance and to control musculoskeletal pain. Canes,... |
What is (are) Protein C deficiency ? | Protein C deficiency is a disorder that increases a person's risk to develop abnormal blood clots. The condition can be mild or severe. People with mild protein C deficiency are at risk for a type of clot called deep vein thrombosis (DVT). A DVT can travel through the bloodstream and become stuck in the lung, which can... |
What are the symptoms of Protein C deficiency ? | What are the signs and symptoms of Protein C deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Protein C 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 Dic... |
What causes Protein C deficiency ? | What causes protein C deficiency? Protein C deficiency can be inherited or acquired later in life. Inherited protein C deficiency is caused by mutations in the gene that provides instructions for making protein C, called the PROC gene. These mutations disrupt the protein's ability to control blood clotting. If protein ... |
Is Protein C deficiency inherited ? | How is protein C deficiency inherited? Hereditary protein C deficiency is inherited in an autosomal dominant manner. This means that having only one mutated copy of the responsible gene in each cell is enough to cause mild protein C deficiency. A mutated copy of the gene can be inherited from a person's mother or fathe... |
How to diagnose Protein C deficiency ? | How is protein C deficiency diagnosed? A diagnosis of protein C deficiency might be suspected in someone with a deep venous thrombosis (DVT) or a pulmonary embolism, especially if it occurs in a relatively young person (less than 50 years old) or has formed in an unusual location, such as the veins leading to the liver... |
What are the treatments for Protein C deficiency ? | How might protein C deficiency be treated? Most people with mild protein C deficiency never develop abnormal blood clots and thus do not require treatment. However, people who have experienced a deep venous thrombosis (DVT) or a pulmonary embolism are usually treated with blood-thinning drugs such as heparin or warfari... |
What are the symptoms of Agammaglobulinemia, non-Bruton type ? | What are the signs and symptoms of Agammaglobulinemia, non-Bruton type? The Human Phenotype Ontology provides the following list of signs and symptoms for Agammaglobulinemia, non-Bruton type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... |
What is (are) Metaplastic carcinoma of the breast ? | Metaplastic carcinoma of the breast is a rare form of breast cancer. The tumor cells differ in type from that of the typical ductal or lobular breast cancers. The cells look like skin cells or cells that make bone. Some women experience no early signs or symptoms, while others experience general symptoms of breast canc... |
What are the symptoms of Bartter syndrome antenatal type 1 ? | What are the signs and symptoms of Bartter syndrome antenatal type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Bartter syndrome antenatal 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 t... |
What is (are) Erdheim-Chester disease ? | Erdheim-Chester disease is a rare condition that can affect many different organs of the body. This condition, which usually affects adults, is characterized by excessive production and accumulation of histiocytes (specific cells that normally play a role in responding to infection and injury) within multiple tissues a... |
What are the symptoms of Erdheim-Chester disease ? | What are the signs and symptoms of Erdheim-Chester disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Erdheim-Chester 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 Medic... |
What causes Erdheim-Chester disease ? | What causes Erdheim-Chester disease? The specific underlying cause of Erdheim-Chester disease is not known. It is not currently categorized as a cancer, infection or autoimmune disease. It it not believed to be contagious or genetic in nature. |
What is (are) Opsismodysplasia ? | Opsismodysplasia is a rare skeletal dysplasia characterized by congenital short stature and characteristic craniofacial abnormalities. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel (the space between the front bones of the skull), and ch... |
What are the symptoms of Opsismodysplasia ? | What are the signs and symptoms of Opsismodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Opsismodysplasia. 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 ... |
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... |
What are the symptoms of Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus ? | What are the signs and symptoms of Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus. If the information is available, the table below includes how ofte... |
What is (are) Familial hemiplegic migraine type 1 ? | Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and m... |
What are the symptoms of Familial hemiplegic migraine type 1 ? | What are the signs and symptoms of Familial hemiplegic migraine type 1? The symptoms and severity can vary considerably among people with hemiplegic migraine. Signs and symptoms associated with aura may include: Visual disturbance (e.g. blind spots, flashing lights, zigzag pattern, and double vision) Sensory loss (e.g.... |
What are the treatments for Familial hemiplegic migraine type 1 ? | How might hemiplegic migraine be treated? Treatment of hemiplegic migraine varies depending on severity and which symptoms are most problematic for the patient. In general, treatments aim to manage symptoms. Drugs that are effective in the prevention of common migraines may be used in hemiplegic migraine. Prophylactic ... |
What is (are) Nocardiosis ? | Nocardiosis is a rare disorder that affects the brain, skin, and/or lungs. It occurs mainly in people with a weakened immune system. This condition usually starts in the lungs and can spread to other body organs. Affected individuals usually experience problems with their lungs (chest pain, coughing up blood, fevers), ... |
What are the symptoms of Gupta Patton syndrome ? | What are the signs and symptoms of Gupta Patton syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gupta Patton 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... |
What is (are) X-linked dominant scapuloperoneal myopathy ? | X-linked scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. Some ... |
What are the symptoms of X-linked dominant scapuloperoneal myopathy ? | What are the signs and symptoms of X-linked dominant scapuloperoneal myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked dominant scapuloperoneal myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condit... |
What causes X-linked dominant scapuloperoneal myopathy ? | What causes X-linked dominant scapuloperoneal myopathy? X-linked dominant scapuloperoneal myopathy is caused by mutations in the FHL1 gene. The FHL1 gene is located on chromosome Xq26. This gene may be involved in muscle development or hypertrophy. |
What are the treatments for X-linked dominant scapuloperoneal myopathy ? | How might scapuloperoneal myopathy be treated? There is no standard course of treatment for scapuloperoneal myopathy. Some patients may benefit from physical therapy or other therapeutic exercises. |
What is (are) Immunotactoid or fibrillary glomerulopathy ? | Immunotactoid or fibrillary glomerulopathy is a term that includes two conditions: immunotactoid glomerulopathy and fibrillary glomerulonephritis, which are uncommon causes of glomerular disease. Most experts feel that fibrillary glomerulonephritis and immunotactoid glomerulopathy are separate disorders but they have m... |
What is (are) Bilateral generalized polymicrogyria ? | Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movem... |
What is (are) Nablus mask-like facial syndrome ? | Nablus mask-like facial syndrome is a rare microdeletion syndrome that is characterized by a mask-like facial appearance. Facial features include narrowing of the eye opening (blepharophimosis); tight appearing glistening facial skin; and flat and broad nose. Other features include malformed ears; unusual scalp hair pa... |
What are the symptoms of Nablus mask-like facial syndrome ? | What are the signs and symptoms of Nablus mask-like facial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nablus mask-like facial 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 are the symptoms of Familial hyperthyroidism due to mutations in TSH receptor ? | What are the signs and symptoms of Familial hyperthyroidism due to mutations in TSH receptor? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hyperthyroidism due to mutations in TSH receptor. If the information is available, the table below includes how often the symptom is s... |
What is (are) Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ? | Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is a genetic condition that causes blood vessels to become fragile. Signs and symptoms include muscle cramps, Raynaud phenomenon, kidney cysts, blood in the urine (typically not visible to the eye), leukoencephalopathy (a change in br... |
What are the symptoms of Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ? | What are the signs and symptoms of Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome. If the information is available, the table b... |
What are the treatments for Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ? | How might HANAC syndrome be treated? In order to know how HANAC syndrome is affecting you, your doctor may recommend that you undergo a series of imaging tests of the brain and kidney, an eye exam, and blood tests (e.g., serum CK concentration). While there is not a targeted treatment for HANAC syndrome, treatments are... |
What are the symptoms of Hereditary vascular retinopathy ? | What are the signs and symptoms of Hereditary vascular retinopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary vascular retinopathy. 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 D-glycericacidemia ? | What are the signs and symptoms of D-glycericacidemia? The Human Phenotype Ontology provides the following list of signs and symptoms for D-glycericacidemia. 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) Blepharospasm ? | Benign essential blepharospasm is a progressive neurological disorder characterized by involuntary muscle contractions and spasms of the eyelid muscles. It is a form of dystonia, a movement disorder in which muscle contractions cause sustained eyelid closure, twitching or repetitive movements. Benign essential blepharo... |
What are the symptoms of Blepharospasm ? | What are the signs and symptoms of Blepharospasm? The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharospasm. 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... |
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. |
What are the symptoms of Epiphyseal dysplasia multiple with early-onset diabetes mellitus ? | What are the signs and symptoms of Epiphyseal dysplasia multiple with early-onset diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Epiphyseal dysplasia multiple with early-onset diabetes mellitus. If the information is available, the table below includes how often th... |
What is (are) Liposarcoma ? | Liposarcoma is a tumor that arises from fat tissue. This tumor often occurs in the thigh, behind the knee, or in the abdomen, but it can be found in other parts of the body. Because a liposarcoma may grow into surrounding tissues or organs, it is considered a malignant tumor. |
What are the treatments for Liposarcoma ? | How might liposarcoma be treated? The treatment for liposarcoma depends on the type, size, and location of the tumor. Surgery to remove the tumor is often the first treatment. When the tumor is in the abdomen, it may be difficult to remove completely, especially if the tumor is growing near important organs that cann... |
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 are the symptoms of Multiple pterygium syndrome X-linked ? | What are the signs and symptoms of Multiple pterygium syndrome X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple pterygium syndrome X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... |
What are the symptoms of Desmoid tumor ? | What are the signs and symptoms of Desmoid tumor? The Human Phenotype Ontology provides the following list of signs and symptoms for Desmoid tumor. 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... |
What are the symptoms of Mental retardation X-linked syndromic 11 ? | What are the signs and symptoms of Mental retardation X-linked syndromic 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation X-linked syndromic 11. If the information is available, the table below includes how often the symptom is seen in people with this condition.... |
What are the symptoms of Cleft palate X-linked ? | What are the signs and symptoms of Cleft palate X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft palate X-linked. 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... |
What is (are) Menkes disease ? | Menkes disease is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system. Additional signs and symptoms may be present. Children with Menkes syndrome typically begin to develop very severe symptoms during infan... |
What are the symptoms of Menkes disease ? | What are the signs and symptoms of Menkes disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Menkes 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 l... |
What is (are) Monoclonal gammopathy of undetermined significance ? | Monoclonal gammopathy of undetermined significance (MGUS) is a condition in which an abnormal protein called monoclonal protein is detected in the blood. MGUS typically does not cause any problems, although some affected people may experience numbness, tingling or weakness. In some cases, MGUS may progress over time to... |
What is (are) Cor triatriatum ? | Cor triatriatum is an extremely rare congenital (present at birth) heart defect. The human heart normally has four chambers, two ventricles and two atria. The two atria are normally separated from each other by a partition called the atrial septum and the two ventricles by the ventricle septum. In cor triatriatum there... |
What is (are) Familial esophageal achalasia ? | Familial esophageal achalasia refers to a cluster of achalasia within a family. Achalasia is a condition that affects the esophagus, the tube that carries food from the mouth to the stomach. In people with achalasia, the normal muscle activity of the esophagus is reduced and the muscular valve where the esophagus and t... |
What are the symptoms of Familial esophageal achalasia ? | What are the signs and symptoms of Familial esophageal achalasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial esophageal achalasia. 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) Urea cycle disorders ? | A urea cycle disorder is a genetic disorder that results in a deficiency of one of the six enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the blood stream. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is changed to a ... |
What is (are) Triple A syndrome ? | Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima (a reduced or absent ability to secrete tears). Most people with triple A syndrome have all three of these features, although some have only two. Several authors published descriptions of a mor... |
What are the symptoms of Triple A syndrome ? | What are the signs and symptoms of Triple A syndrome? Triple A syndrome is characterized by three specific features: achalasia, Addison disease, and alacrima (reduced or absent ability to secrete tears). Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that carries food from... |
What causes Triple A syndrome ? | What causes triple A syndrome? Mutations in the AAAS gene cause triple A syndrome in many affected individuals. This gene provides instructions for making a protein called ALADIN, whose function is not well understood. Within cells, ALADIN is found in the nuclear envelope, the structure that surrounds the nucleus and s... |
Is Triple A syndrome inherited ? | How is triple A syndrome inherited? Triple A syndrome 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 and are referred to as "carriers" but they typi... |
What are the treatments for Triple A syndrome ? | How might triple A syndrome be treated? There is no cure for triple A syndrome at this time; treatment typically focuses on managing individual signs and symptoms of the condition. Glucocorticoid deficiency in individuals with known adrenal insufficiency (present with Addison disease) is typically treated by replacemen... |
What are the symptoms of Acromesomelic dysplasia Hunter Thompson type ? | What are the signs and symptoms of Acromesomelic dysplasia Hunter Thompson type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acromesomelic dysplasia Hunter Thompson type. If the information is available, the table below includes how often the symptom is seen in people with this co... |
What is (are) Norrie disease ? | Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. Additional symptoms may occur in some cases, although this varies even among individuals in the same family. Most affected individuals develop sensorineural hearing loss and many exhibit cognitive abnormali... |
What are the symptoms of Norrie disease ? | What are the signs and symptoms of Norrie disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Norrie 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 l... |
What causes Norrie disease ? | What causes Norrie disease? Norrie disease is caused by a change (mutation) in the NDP gene, which is located on the X chromosome. It is inherited in an X-linked recessive manner. The NDP gene provides instructions for making a protein called norrin, which affects the way cells and tissues develop. In particular, the n... |
What are the treatments for Norrie disease ? | How might Norrie disease be treated? Because most males with Norrie disease (ND) have complete retinal detachment at the time of birth, surgical intervention after that time is typically not effective for preserving sight. Furthermore, we were unable to find reports about restoring sight to affected individuals after s... |
What are the symptoms of Optic atrophy polyneuropathy deafness ? | What are the signs and symptoms of Optic atrophy polyneuropathy deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy polyneuropathy deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... |
What is (are) Juvenile osteoporosis ? | Juvenile osteoporosis is a condition of bone demineralization characterized by pain in the back and extremities, multiple fractures, difficulty walking, and evidence of osteoporosis. Symptoms typically develop just before puberty. Osteoporosis is rare in children and adolescents. When it does occur, it is usually cause... |
What are the symptoms of Juvenile osteoporosis ? | What are the signs and symptoms of Juvenile osteoporosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile osteoporosis. 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... |
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 ... |
What are the symptoms of Anauxetic dysplasia ? | What are the signs and symptoms of Anauxetic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Anauxetic 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... |
What is (are) Macular degeneration ? | Age-related macular degeneration (AMD) is an eye condition characterized by progressive destruction of the macula. The macula is located in the retina in the eye and enables one to see fine details and perform tasks that require central vision, such as reading and driving. Signs and symptoms include vision loss, which ... |
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... |
What are the symptoms of Dystonia 16 ? | What are the signs and symptoms of Dystonia 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 16. 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 is (are) Hereditary endotheliopathy, retinopathy, nephropathy, and stroke ? | Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is a rare genetic condition that affects the vascular endothelium (the inner lining of the arteries and blood vessels). Specifically, the small blood vessels of the brain (microangiopathy); retina (vascular retinopathy); and kidneys are affect... |
What are the symptoms of Hereditary endotheliopathy, retinopathy, nephropathy, and stroke ? | What are the signs and symptoms of Hereditary endotheliopathy, retinopathy, nephropathy, and stroke? Very few cases of hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) have been reported. Based upon these reports, it appears that symptoms often begin in the 30s or 40s. Early symptoms, which ... |
Is Hereditary endotheliopathy, retinopathy, nephropathy, and stroke inherited ? | How is hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) inherited? Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the gene responsible for the condition is suffic... |
What are the treatments for Hereditary endotheliopathy, retinopathy, nephropathy, and stroke ? | How might hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) be treated? At this time there is no effective treatment for hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). Treatment of HERNS is largely palliative, which means that it is aimed at decreasing pain and ... |
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... |
What are the symptoms of Nasopharyngeal carcinoma ? | What are the signs and symptoms of Nasopharyngeal carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Nasopharyngeal 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 MedlinePlus Med... |
What are the symptoms of Hyperthermia induced defects ? | What are the signs and symptoms of Hyperthermia induced defects? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperthermia induced defects. 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 Oculocutaneous albinism type 1B ? | What are the signs and symptoms of Oculocutaneous albinism type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism type 1B. 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 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) Permanent neonatal diabetes mellitus ? | Permanent neonatal diabetes mellitus (PNDB) is a type of diabetes that appears within the first 6 months of life and persists throughout life. Affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy. Some individuals also have neurological problems incl... |
What are the symptoms of Permanent neonatal diabetes mellitus ? | What are the signs and symptoms of Permanent neonatal diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Permanent neonatal diabetes mellitus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... |
What is (are) Familial hemiplegic migraine type 3 ? | Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and m... |
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