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What are the symptoms of Facioscapulohumeral muscular dystrophy ? | What are the signs and symptoms of Facioscapulohumeral muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Facioscapulohumeral muscular dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... |
What is (are) Amyloidosis AA ? | Amyloidosis is a group of diseases in which a protein, called amyloid, builds up in the body's organs and tissues. Amyloidosis AA is also referred to as Secondary amyloidosis or Inflammatory amyloidosis. This disease is caused by a long-lasting infection or inflammatory disease such as rheumatoid arthritis, familial Me... |
What are the treatments for Amyloidosis AA ? | What are the most current treatments for this disease? In amyloidosis AA, the treatment depends on the underlying disease. It is important to control the chronic infection or inflammatory disease which is responsible for the amyloid. Both surgery and medication can be used to achieve successful treatment outcomes for p... |
What is (are) Gliomatosis cerebri ? | Gliomatosis cerebri is a type of brain cancer. It is a variant form of glioblastoma multiforme. It is characterized by scattered and widespread tumor cells that can cause the cerebrum, cerebellum, or brain stem to enlarge. Signs and symptoms may include personality changes, memory disturbance, headache, hemiparesis, a... |
What is (are) Chiari malformation ? | Chiari malformations are structural defects in the cerebellum, the part of the brain that controls balance. When the indented bony space at the lower rear of the skull is smaller than normal, the cerebellum and brainstem can be pushed downward. The resulting pressure on the cerebellum can block the flow of cerebrospina... |
What are the symptoms of Chiari malformation ? | What are the signs and symptoms of Chiari malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation. 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) Isolated ectopia lentis ? | Isolated ectopia lentis (IEL) is a genetic disorder that affects the positioning of the lens in the eyes. In individuals with IEL, the lens in one or both of the eyes is off-center. Symptoms of IOL usually present in childhood and may include vision problems such as nearsightedness (myopia), blurred vision (astigmatism... |
What are the symptoms of Isolated ectopia lentis ? | What are the signs and symptoms of Isolated ectopia lentis? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated ectopia lentis. 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) Exstrophy-epispadias complex ? | Exstrophy-epispadias complex (EEC) comprises a spectrum of congenital abnormalities that includes epispadias, classical bladder exstrophy and exstrophy of the cloaca and several variants. EEC is characterized by a visible defect of the lower abdominal wall and other problems. The defect occurs due to a rupture of a fet... |
What are the symptoms of Red cell phospholipid defect with hemolysis ? | What are the signs and symptoms of Red cell phospholipid defect with hemolysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Red cell phospholipid defect with hemolysis. If the information is available, the table below includes how often the symptom is seen in people with this cond... |
What is (are) Stiff person syndrome ? | Stiff person syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease. Symptoms may include muscle stiffness in the trunk and limbs, and heightened sensitivity to noise, touch, and emotional distress, which can set off muscle spasms. Affected people may also have abnormal postures, such as ... |
What are the symptoms of Stiff person syndrome ? | What are the signs and symptoms of Stiff person syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Stiff person 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 causes Stiff person syndrome ? | What causes stiff person syndrome? Scientists dont yet understand what causes stiff person syndrome, but research indicates that it is the result of an abnormal autoimmune response in the brain and spinal cord. Most people with stiff person syndrome have antibodies to glutamic acid decarboxylase (GAD), a protein in som... |
Is Stiff person syndrome inherited ? | Is stiff person syndrome inherited? Genetic factors involved in causing stiff person syndrome have not been established. While most cases appear to occur in an isolated manner, some familial cases have been reported. The fact that stiff person syndrome can occur with other autoimmune disorders suggests that genetics m... |
How to diagnose Stiff person syndrome ? | Is genetic testing available for stiff person syndrome? Genetic testing is not available for stiff person syndrome, as the underlying genetic cause (if any) has not yet been established. How is stiff person syndrome diagnosed? A diagnosis of stiff person syndrome (SPS) is typically made based on the presence of the cha... |
What are the treatments for Stiff person syndrome ? | How might stiff person syndrome be treated? Treatment of stiff person syndrome (SPS) focuses on the specific symptoms present in each person. Benzodiazepines may be used to treat muscle stiffness and episodic spasms; baclofen may be used in addition to benzodiazepines. Anti-seizure drugs have reportedly been effective ... |
What is (are) Myelofibrosis ? | Myelofibrosis is a disorder of the bone marrow, in which the marrow is replaced by fibrous (scar) tissue. Scarring of the bone marrow causes anemia, which can lead to fatigue and weakness, as well as pooling of the blood in abnormal sites like the liver and spleen, causing these organs to swell. Although myelofibrosis ... |
What are the symptoms of Myelofibrosis ? | What are the signs and symptoms of Myelofibrosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Myelofibrosis. 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) Autoimmune hepatitis ? | Autoimmune hepatitis is a disease in which the bodys immune system attacks liver cells. This immune response causes inflammation of the liver, also called hepatitis. The disease can be quite serious and, if not treated, gets worse over time, leading to cirrhosis of the liver and/or liver failure. Autoimmune hepatitis s... |
What are the symptoms of Autoimmune hepatitis ? | What are the signs and symptoms of Autoimmune hepatitis? Symptoms of autoimmune hepatitis range from mild to severe. Fatigue is probably the most common symptom of autoimmune hepatitis. Other symptoms include: an enlarged liver jaundice itching skin rashes joint pain abdominal discomfort spider angiomas, or abnormal bl... |
What causes Autoimmune hepatitis ? | What causes autoimmune hepatitis? Although the exact cause of autoimmune hepatitis is unknown, evidence suggests that liver injury in a patient with autoimmune hepatitis is the result of a cell-mediated immunologic attack. This autoimmune attack may be triggered by genetic factors, viral infections, or chemical agents.... |
How to diagnose Autoimmune hepatitis ? | How is autoimmune hepatitis diagnosed? The diagnosis of autoimmune hepatitis is typically made based on symptoms, blood tests, and a liver biopsy. |
What are the treatments for Autoimmune hepatitis ? | How might autoimmune hepatitis be treated? Some people with mild forms of autoimmune hepatitis may not need to take medication. Doctors assess each patient individually to determine whether those with mild autoimmune hepatitis should undergo treatment. Treatment works best when autoimmune hepatitis is diagnosed early. ... |
What are the symptoms of Leber congenital amaurosis 10 ? | What are the signs and symptoms of Leber congenital amaurosis 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 10. 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 are the symptoms of Verloove Vanhorick Brubakk syndrome ? | What are the signs and symptoms of Verloove Vanhorick Brubakk syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Verloove Vanhorick Brubakk syndrome. 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) Pars planitis ? | Pars planitis is a disease of the eye that is characterized by inflammation of the narrowed area (pars plana) between the colored part of the eye (iris) and the choroid. This may lead to blurred vision; dark, floating spots in the vision; and progressive vision loss. As the condition advances, cataracts, retinal detach... |
What are the symptoms of Pars planitis ? | What are the signs and symptoms of pars planitis? Pars planitis is characterized by inflammation of the narrowed area (pars plana) between the colored part of the eye (iris) and the choroid. This may lead to blurred vision; dark, floating spots in the vision; and progressive vision loss. Approximately 80% of cases are ... |
What causes Pars planitis ? | What causes pars planitis? The exact underlying cause of pars planitis is unknown. Scientists suspect that it is an autoimmune condition in which the body's immune system mistakenly attacks healthy tissues (certain parts of the eyes, in this case). This is further supported by the fact that pars planitis is sometimes a... |
How to diagnose Pars planitis ? | How is pars planitis diagnosed? Pars planitis is typically diagnosed based on a specialized eye examination. During the exam, the ophthalmologist will typically see clusters of white blood cells trapped within the eyeball that are called snowballs (or "inflammatory exudate"). If these clusters are located on the pars p... |
What are the treatments for Pars planitis ? | How might pars planitis be treated? The first approach to treating pars planitis is corticosteroid eye drops or injections near the eye to control inflammation. Non-steroidal anti-inflammatory drugs (NSAIDs, including aspirin) or steroid medications (such as prednisone) can be taken by mouth. If these strategies are no... |
What is (are) Aceruloplasminemia ? | Aceruloplasminemia is a disorder of iron metabolism. This disorder causes iron to build-up in the body. Signs and symptoms begin in adulthood. People with this disorder tend to develop anemia and diabetes in their 20's. As the condition progresses, movement problems are common, such as tremors, chorea, ataxia, eyelid t... |
What are the symptoms of Aceruloplasminemia ? | What are the signs and symptoms of Aceruloplasminemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Aceruloplasminemia. 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... |
How to diagnose Aceruloplasminemia ? | How might aceruloplasminemia be diagnosed? When a person has more than one of the following symptoms, aceruloplasminemia should be suspected: Diabetes mellitus Retinal degeneration Anemia Movement disorder Diagnosis can be further supported by MRI and pathology results demonstrating iron deposition in the body. People ... |
What are the symptoms of Neutropenia chronic familial ? | What are the signs and symptoms of Neutropenia chronic familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Neutropenia chronic 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 Medline... |
What is (are) Late-Onset Familial Alzheimer Disease ? | Late-onset familial Alzheimer disease is a form of familial Alzheimer disease that begins after age 65. In general, Alzheimer disease (AD) is a degenerative disease of the brain that causes gradual loss of memory, judgement and the ability to function socially. The exact underlying cause of late-onset familial AD is no... |
What is (are) Koolen de Vries syndrome ? | Koolen de Vries syndrome, formerly known as 17q21.31 microdeletion syndrome, is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location designated as q21.31. People with 17q21.31 microdeletion syndrome may have developmental delay, intellectual disability, seizur... |
What are the symptoms of Koolen de Vries syndrome ? | What are the signs and symptoms of Koolen de Vries syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Koolen de Vries 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... |
How to diagnose Koolen de Vries syndrome ? | How is 17q21.31 microdeletion syndrome diagnosed? 17q21.31 microdeletion syndrome is diagnosed in individuals who have a deletion of 500,000 to 650,000 DNA building blocks (base pairs) at chromosome 17q21.31. The diagnosis can be made by various genetic testing methods, including FISH and array CGH. This condition cann... |
What is (are) Chancroid ? | Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more. About half of the people wh... |
What is (are) Congenital short femur ? | Congenital short femur is a rare type of skeletal dysplasia, a complex group of bone and cartilage disorders that affect the skeleton of a fetus as it develops during pregnancy. Congenital short femur can vary in severity, ranging from hypoplasia (underdevelopment) of the femur to absence of the femur. With modern surg... |
What is (are) Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia ? | Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia is a rare condition characterized by alopecia (hair loss); nail dystrophy (abnormal development of the nails); ophthalmic (eye-related) complications; thyroid dysfunction (primary hypothyroidism); hypohidrosis; ephelides (freckles); enteropath... |
What are the symptoms of Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia ? | What are the signs and symptoms of Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia. If the information is available, the table bel... |
What are the symptoms of Mitochondrial trifunctional protein deficiency ? | What are the signs and symptoms of Mitochondrial trifunctional protein deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Mitochondrial trifunctional protein deficiency. If the information is available, the table below includes how often the symptom is seen in people with thi... |
What are the symptoms of Hypocalcemia, autosomal dominant ? | What are the signs and symptoms of Hypocalcemia, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypocalcemia, autosomal dominant. 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 Omodysplasia 2 ? | What are the signs and symptoms of Omodysplasia 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Omodysplasia 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to l... |
What is (are) Fowler's syndrome ? | Fowlers syndrome is characterized by urinary retention associated with abnormal electromyographic activity in young women in the absence of overt neurologic disease. Some women with this syndrome have polycystic ovaries as well. |
What are the symptoms of Fowler's syndrome ? | What are the signs and symptoms of Fowler's syndrome? Fowlers syndrome typically occurs in premenopausal women (often in women under 30 years of age) who are unable to void for a day or more with no feeling of urinary urgency, but with increasing lower abdominal discomfort. The Human Phenotype Ontology provides the fol... |
What causes Fowler's syndrome ? | What causes Fowlers syndrome? The cause of Fowler's syndrome is not known. The association of Fowlers syndrome and polycystic ovaries in some patients raises the possibility that the syndrome is linked in some way to impaired muscle membrane stability, owing possibly to a hormonal abnormality. The involvement of such a... |
How to diagnose Fowler's syndrome ? | How is Fowlers syndrome diagnosed? Diagnosis of Fowlers syndrome involves ruling out neurological or laboratory features that would support a diagnosis of a underlying neurological disease, and identification of a bladder capacity of over 1 liter with no sensation of urgency. Also in Fowlers syndrome, analysis of the s... |
What are the treatments for Fowler's syndrome ? | How might Fowlers syndrome be treated? The urinary incontinence caused by Fowlers syndrome may be treated by sacral neuromodulation therapy. The success rate for treatment of Fowlers syndrome with neuromodulation has been estimated to be around 70%, even in women who have been experiencing symptoms for a while. Neuromo... |
What is (are) KBG syndrome ? | KBG syndrome is a rare condition characterized mainly by skeletal abnormalities, distinctive facial features, and intellectual disability. Specific signs and symptoms may include delayed bone age; abnormalities of the bones of the spine, ribs, and/or hands; large teeth (macrodontia); short stature; developmental delay;... |
What are the symptoms of KBG syndrome ? | What are the signs and symptoms of KBG syndrome? KBG syndrome is often characterized by distinctive facial features, skeletal abnormalities, short stature, large upper teeth (macrodontia), and developmental delay or intellectual disability. However, the number and severity of symptoms can vary. Characteristic features ... |
What are the symptoms of Cleft palate short stature vertebral anomalies ? | What are the signs and symptoms of Cleft palate short stature vertebral anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft palate short stature vertebral anomalies. If the information is available, the table below includes how often the symptom is seen in people with thi... |
What are the symptoms of Paragangliomas 1 ? | What are the signs and symptoms of Paragangliomas 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Paragangliomas 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary ... |
What is (are) Amniotic band syndrome ? | Amniotic band syndrome refers to a condition in which bands extend from (and originating from) the inner lining of the amnion. The amnion is the sac that surrounds the baby in the womb. As the baby develops in the womb, its extremities may become entangled in the amniotic band resulting in constriction or even amputati... |
What are the symptoms of Amniotic band syndrome ? | What are the signs and symptoms of Amniotic band syndrome? The symptoms of amniotic band syndrome depend on the severity and location of the constrictions. The mildest constrictions affect only the superficial skin and may not require treatment. Deeper constrictions may block lymphatic vessels, impair blood flow, and r... |
What causes Amniotic band syndrome ? | What causes amniotic bands? Amniotic bands are caused by damage to a part of the placenta called the amnion. Damage to the amnion may produce fiber-like bands that can trap parts of the developing baby. |
How to diagnose Amniotic band syndrome ? | How is amniotic band syndrome diagnosed? The earliest reported detection of an amniotic band is at 12 weeks gestation, by vaginal ultrasound. On ultrasound the bands appear as thin, mobile lines, which may be seen attached to or around the baby. However these bands may be difficult to detect by ultrasound, and are more... |
What are the treatments for Amniotic band syndrome ? | How might amniotic band syndrome be treated? Mild cases may not require treatment, however all bands need monitoring as growth occurs to watch for progressive constriction and swelling. Other constrictions may require surgical management; surgical options will vary depending on the abnormality. People with amniotic ban... |
What are the symptoms of Pili torti developmental delay neurological abnormalities ? | What are the signs and symptoms of Pili torti developmental delay neurological abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili torti developmental delay neurological abnormalities. If the information is available, the table below includes how often the symptom is s... |
What is (are) Loin pain hematuria syndrome ? | Loin pain hematuria syndrome (LPHS) is a condition that is characterized by persistent or recurrent loin pain and hematuria (blood in the urine). Other signs and symptoms include nausea and vomiting; a low-grade fever (up to 101F); and/or dysuria during episodes of pain. The exact underlying cause of LPHS is currently ... |
What are the symptoms of Loin pain hematuria syndrome ? | What are the signs and symptoms of loin pain hematuria syndrome? As the name of the condition suggests, loin pain hematuria syndrome (LPHS) is characterized primarily by recurrent or persistent loin pain and/or hematuria (blood in the urine). The loin pain is sometimes described as burning or throbbing and may worsen w... |
What causes Loin pain hematuria syndrome ? | What causes loin pain hematuria syndrome? The exact underlying cause of loin pain hematuria syndrome (LPHS) is currently unknown. However, scientists have proposed several theories. For example, some cases of LPHS may be due to abnormal glomerular basement membranes, which are the tissues in the kidney that filter bloo... |
How to diagnose Loin pain hematuria syndrome ? | How is loin pain hematuria syndrome diagnosed? A diagnosis of loin pain hematuria syndrome is suspected based on the presence of characteristic signs and symptoms, after other conditions that cause similar features have been excluded. Severe hematuria (blood in urine) may be obvious; however, a urinalysis can be perfor... |
What are the treatments for Loin pain hematuria syndrome ? | How might loin pain hematuria syndrome be treated? Treatment of loin pain hematuria syndrome (LPHS) typically consists of pain management. Narcotics or oral opioids may be prescribed to help control pain. Patients with severe pain may need high-dose opioids daily and may occasionally require hospitalization for intrave... |
What are the symptoms of Punctate palmoplantar keratoderma type 2 ? | What are the signs and symptoms of Punctate palmoplantar keratoderma type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Punctate palmoplantar keratoderma type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition.... |
What is (are) Bednar tumor ? | Bednar tumor is a rare variant of dermatofibrosarcoma protuberans (DFSP), a soft tissue sarcoma that develops in the deep layers of the skin. It accounts for approximately 1% of all DFSP cases. Bednar tumor is also known as pigmented DFSP because it contains dark-colored cells that give may give the tumor a multi-color... |
What is (are) Spina bifida occulta ? | Spina bifida occulta (SBO) occurs when the bones of the spinal column do not completely close around the developing nerves of the spinal cord. In most cases SBO causes no symptoms, however cases associated with back and urogenital problems have been reported. SBO has an estimated prevalence of 12.4%. |
What are the symptoms of Spina bifida occulta ? | What are the signs and symptoms of Spina bifida occulta? The Human Phenotype Ontology provides the following list of signs and symptoms for Spina bifida occulta. 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 is (are) VLCAD deficiency ? | VLCAD deficiency is a condition in which the body is unable to properly breakdown certain fats (called very long-chain fatty acids) into energy, particularly during periods without food (fasting). Signs and symptoms can occur during infancy, childhood or adulthood depending on the form of the condition and may include ... |
What are the symptoms of VLCAD deficiency ? | What are the signs and symptoms of VLCAD deficiency? There are three forms of VLCAD deficiency: a severe, early-onset form; a hepatic (liver) or hypoketotic hypoglycemic form; and a later-onset episodic myopathic form. Signs and symptoms of the severe, early-onset form occur in the first few months of life and include ... |
What causes VLCAD deficiency ? | What causes VLCAD deficiency? VLCAD deficiency is caused by changes (mutations) in the ACADVL gene. This gene encodes an enzyme that is required for the proper break down (metabolism) of a certain group of fats called very long-chain fatty acids. Mutations in the ACADVL gene lead to reduced levels of this enzyme which ... |
Is VLCAD deficiency inherited ? | Is VLCAD deficiency inherited? VLCAD deficiency is 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 are referred to as carri... |
How to diagnose VLCAD deficiency ? | How is VLCAD deficiency diagnosed? A diagnosis of VLCAD deficiency may be suspected based on an abnormal newborn screen or the presence of characteristic signs and symptoms. In both of these cases, additional testing can then be ordered to further investigate the diagnosis. This testing may include specialized tests pe... |
What are the treatments for VLCAD deficiency ? | How might VLCAD deficiency be treated? Management of VLCAD deficiency depends on many factors, including the form of the condition and the specific signs and symptoms present. For example, people affected by the severe forms of the condition are typically placed on a low-fat, high-carbohydrate diet with frequent meals.... |
What are the symptoms of Harrod Doman Keele syndrome ? | What are the signs and symptoms of Harrod Doman Keele syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Harrod Doman Keele 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 MedlinePl... |
What are the symptoms of Spinocerebellar ataxia autosomal recessive 3 ? | What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 3. 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 Microphthalmia microtia fetal akinesia ? | What are the signs and symptoms of Microphthalmia microtia fetal akinesia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia microtia fetal akinesia. 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 Cleidorhizomelic syndrome ? | What are the signs and symptoms of Cleidorhizomelic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleidorhizomelic 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 M... |
What are the symptoms of Spastic paraplegia 16 ? | What are the signs and symptoms of Spastic paraplegia 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 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 D... |
What are the symptoms of Immunodeficiency with hyper IgM type 5 ? | What are the signs and symptoms of Immunodeficiency with hyper IgM type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Immunodeficiency with hyper IgM type 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... |
What is (are) Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ? | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited condition that causes stroke and other impairments. This progressive condition is characterized by muscle stiffness, mood and personality changes, dementia, memory loss, alopecia of th... |
What are the symptoms of Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ? | What are the signs and symptoms of Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. If the informati... |
What is (are) Hypoplastic right heart syndrome ? | Hypoplastic right heart syndrome is a rare heart defect, present at birth (congenital), that results in low blood oxygen levels. It is caused by underdevelopment of the structures on the right side of the heart (tricuspid valve, right ventricle, pulmonary valve, and pulmonary artery) and commonly associated with atrial... |
What are the symptoms of Gamma-cystathionase deficiency ? | What are the signs and symptoms of Gamma-cystathionase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Gamma-cystathionase 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... |
What is (are) Ovarian carcinosarcoma ? | Ovarian carcinosarcoma is a cancer of the ovary that is composed of two types of cells, namely carcinoma cells and sarcoma cells. Ovarian carcinosarcoma is also known as a malignant mixed mullerian tumor of the ovary. The average age of women at the time of diagnosis is 60 to 70 years. Symptoms may include pain in t... |
What causes Ovarian carcinosarcoma ? | Is there a hereditary cause for ovarian carcinosarcoma? Ovarian carcinosarcoma is not thought to be caused by an inherited gene mutation. However, one article in the medical literature suggests that an inherited mutation in the BRCA2 gene contributed to the development of ovarian carcinosarcoma in one woman. |
What are the treatments for Ovarian carcinosarcoma ? | How might ovarian carcinosarcoma be treated? Because ovarian carcinosarcoma is rare, there are no established treatment guidelines. Treatment decisions are based on the unique features of each individual's diagnosis. The National Comprehensive Cancer Network (NCCN), a group of physicians and researchers who strive to... |
What are the symptoms of Hydrolethalus syndrome ? | What are the signs and symptoms of Hydrolethalus syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrolethalus 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... |
What are the symptoms of Charcot-Marie-Tooth disease type 1D ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 1D? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1D. 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 Axial osteomalacia ? | What are the signs and symptoms of Axial osteomalacia? The Human Phenotype Ontology provides the following list of signs and symptoms for Axial osteomalacia. 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) Ambras syndrome ? | Ambras syndrome is a very rare type of hypertrichosis lanuginosa congenita, a congenital skin disease characterized by excessive hair growth on the entire body, with the exception of the palms, soles, and mucous membranes. Individuals with Ambras syndrome have excessive growth of vellus (soft, fine and short) hair, esp... |
What are the symptoms of Ambras syndrome ? | What are the signs and symptoms of Ambras syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ambras 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... |
What are the symptoms of ITCH E3 ubiquitin ligase deficiency ? | What are the signs and symptoms of ITCH E3 ubiquitin ligase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for ITCH E3 ubiquitin ligase deficiency. 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 Ramos Arroyo Clark syndrome ? | What are the signs and symptoms of Ramos Arroyo Clark syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ramos Arroyo Clark 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 MedlinePl... |
What are the symptoms of Cone-rod dystrophy 2 ? | What are the signs and symptoms of Cone-rod dystrophy 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy 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 Dic... |
What are the symptoms of Crisponi syndrome ? | What are the signs and symptoms of Crisponi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Crisponi 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 Dictionar... |
What is (are) Lymphedema-distichiasis syndrome ? | Lymphedema distichiasis syndrome is a condition that affects the normal function of the lymphatic system (part of the immune system that produces and transports fluids and immune cells throughout the body). People with this condition are born with extra eyelashes (distichiasis) and develop puffiness or swelling (lymphe... |
What are the symptoms of Lymphedema-distichiasis syndrome ? | What are the signs and symptoms of Lymphedema-distichiasis syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lymphedema-distichiasis 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 Penttinen-Aula syndrome ? | What are the signs and symptoms of Penttinen-Aula syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Penttinen-Aula 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 Medic... |
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