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What are the symptoms of Alopecia areata ? | What are the signs and symptoms of Alopecia areata? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia areata. 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... | Alopecia areata |
What is (are) Osteopetrosis autosomal recessive 4 ? | Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder ... | Osteopetrosis autosomal recessive 4 |
What are the symptoms of Osteopetrosis autosomal recessive 4 ? | What are the signs and symptoms of Osteopetrosis autosomal recessive 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | Osteopetrosis autosomal recessive 4 |
What are the symptoms of Short rib-polydactyly syndrome type 4 ? | What are the signs and symptoms of Short rib-polydactyly syndrome type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Short rib-polydactyly syndrome type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | Short rib-polydactyly syndrome type 4 |
What are the symptoms of Diffuse palmoplantar keratoderma, Bothnian type ? | What are the signs and symptoms of Diffuse palmoplantar keratoderma, Bothnian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse palmoplantar keratoderma, Bothnian type. If the information is available, the table below includes how often the symptom is seen in people with t... | Diffuse palmoplantar keratoderma, Bothnian type |
What is (are) Congenital bilateral absence of the vas deferens ? | Congenital bilateral absence of the vas deferens (CBAVD) occurs in males when the tubes that carry sperm out of the testes (vas deferens) fail to develop properly. Although the testes usually develop and function normally, sperm cannot be transported through the vas deferens to become part of semen. As a result, men wi... | Congenital bilateral absence of the vas deferens |
What are the symptoms of Congenital bilateral absence of the vas deferens ? | What are the signs and symptoms of Congenital bilateral absence of the vas deferens? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital bilateral absence of the vas deferens. If the information is available, the table below includes how often the symptom is seen in people with... | Congenital bilateral absence of the vas deferens |
What causes Congenital bilateral absence of the vas deferens ? | What causes congenital bilateral absence of the vas deferens (CBAVD)? More than half of all men with CBAVD have mutations in the CFTR gene. Mutations in this gene also cause cystic fibrosis. When CBAVD occurs with CFTR mutations, it is considered a form of atypical cystic fibrosis. In instances of CBAVD without a mutat... | Congenital bilateral absence of the vas deferens |
Is Congenital bilateral absence of the vas deferens inherited ? | How is congenital bilateral absence of the vas deferens (CBAVD) inherited? When this condition is caused by mutations in the CFTR gene, it is inherited in an autosomal recessive pattern. This pattern of inheritance means that both copies of the gene in each cell have a mutation. Parents of a person with CBAVD each carr... | Congenital bilateral absence of the vas deferens |
How to diagnose Congenital bilateral absence of the vas deferens ? | Is genetic testing available for congenital bilateral absence of the vas deferens (CBAVD)? GeneTests lists the names of laboratories that are performing genetic testing for CBAVD. To view the contact information for the clinical laboratories conducting testing, click here. Please note: Most of the laboratories listed ... | Congenital bilateral absence of the vas deferens |
What is (are) Encephalitis lethargica ? | Encephalitis lethargica is a disease characterized by high fever, headache, double vision, delayed physical and mental response, extreme tiredness (lethargy), and sometimes coma. Patients may also experience abnormal eye movements, upper body weakness, muscule pain, tremors, neck rigidity, and behavioral changes includ... | Encephalitis lethargica |
What is (are) Epidermolysis bullosa simplex, generalized ? | Epidermolysis bullosa simplex, generalized is a form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and blister easily. This disorder usually presents at birth or during infancy and results in widespread blisters over the body's surface. Though it is not a common feature of th... | Epidermolysis bullosa simplex, generalized |
What are the symptoms of Epidermolysis bullosa simplex, generalized ? | What are the signs and symptoms of Epidermolysis bullosa simplex, generalized? Epidermolysis bullosa simplex, generalized is associated with widespread blisters that appear at birth or in early infancy. While not a common feature of this type of epidermolysis bullosa, scarring may occasionally occur. There may also be ... | Epidermolysis bullosa simplex, generalized |
What are the treatments for Epidermolysis bullosa simplex, generalized ? | How might epidermolysis bullosa simplex be treated? There is no cure for epidermolysis bullosa simplex and there is no known treatment proven to completely control all of the symptoms. However, many complications can be lessened or avoided through early intervention. Individuals with milder forms of the disease have mi... | Epidermolysis bullosa simplex, generalized |
What are the symptoms of Paragangliomas 4 ? | What are the signs and symptoms of Paragangliomas 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Paragangliomas 4. 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 ... | Paragangliomas 4 |
What are the symptoms of Roch-Leri mesosomatous lipomatosis ? | What are the signs and symptoms of Roch-Leri mesosomatous lipomatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Roch-Leri mesosomatous lipomatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | Roch-Leri mesosomatous lipomatosis |
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... | Ataxia telangiectasia |
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... | Ataxia telangiectasia |
What is (are) Wernicke-Korsakoff syndrome ? | Wernicke-Korsakoff syndrome is a brain disorder due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. Wernicke's encephalopathy can result from alcohol abuse, dietary deficiencies, prolonged vomiting, eating disorders, or the effects of chemotherapy. Korsakoff's... | Wernicke-Korsakoff syndrome |
What are the symptoms of Wernicke-Korsakoff syndrome ? | What are the signs and symptoms of Wernicke-Korsakoff syndrome? The symptoms of Wernicke encephalopathy include mental confusion, vision problems (including double vision, abnormal eye movements, and eyelid drooping), inability to think clearly, coma, hypothermia, hypotension, and loss of muscle coordination (ataxia). ... | Wernicke-Korsakoff syndrome |
What are the treatments for Wernicke-Korsakoff syndrome ? | How might Wernicke-Korsakoff syndrome be treated? | Wernicke-Korsakoff syndrome |
What are the symptoms of Craniodiaphyseal dysplasia ? | What are the signs and symptoms of Craniodiaphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Craniodiaphyseal 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... | Craniodiaphyseal dysplasia |
What are the symptoms of Seow Najjar syndrome ? | What are the signs and symptoms of Seow Najjar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Seow Najjar 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 Dic... | Seow Najjar syndrome |
What is (are) Proteus syndrome ? | Proteus syndrome is characterized by excessive growth of a part or portion of the body. The overgrowth can cause differences in appearance and with time, an increased risk for blood clots and tumors. It is caused by a change (mutation) in the AKT1 gene. It is not inherited, but occurs as a random mutation in a body cel... | Proteus syndrome |
What are the symptoms of Proteus syndrome ? | What are the signs and symptoms of Proteus syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Proteus 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 ... | Proteus syndrome |
What causes Proteus syndrome ? | What causes Proteus syndrome? Proteus syndrome is caused by mutations in the AKT1 gene. This genetic change is not inherited from a parent; it arises randomly in one cell during the early stages of development before birth. As cells continue to grow and divide, some cells will have the mutation and others will not. Thi... | Proteus syndrome |
What is (are) Charcot-Marie-Tooth disease type 4 ? | Charcot-Marie-Tooth type 4 (CMT4) is a congenital neurologic hereditary disease, part of a group of peripheral neuropathies known as Charcot-Marie-Tooth disease (CMT). It is classified in CMT4A, CMT4B1, CMT4B2, CMT4C, CMT4D, CMT4E, CMT4F, CMT4H and CMT4J. Each sub-type is very rare and may affect a particular ethnic gr... | Charcot-Marie-Tooth disease type 4 |
What is (are) Early infantile epileptic encephalopathy 4 ? | Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizu... | Early infantile epileptic encephalopathy 4 |
What are the symptoms of Early infantile epileptic encephalopathy 4 ? | What are the signs and symptoms of Early infantile epileptic encephalopathy 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Early infantile epileptic encephalopathy 4. If the information is available, the table below includes how often the symptom is seen in people with this condit... | Early infantile epileptic encephalopathy 4 |
What is (are) Chromosome 7p deletion ? | Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occ... | Chromosome 7p deletion |
What are the symptoms of Dykes Markes Harper syndrome ? | What are the signs and symptoms of Dykes Markes Harper syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Dykes Markes Harper syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... | Dykes Markes Harper syndrome |
What are the symptoms of Passos-Bueno syndrome ? | What are the signs and symptoms of Passos-Bueno syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Passos-Bueno 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... | Passos-Bueno syndrome |
What is (are) Parapsoriasis ? | Parapsoriasis describes a group of skin diseases that can be characterized by scaly patches or slightly elevated papules and/or plaques (red, scaly patches) that have a resemblance to psoriasis. However, this description includes several inflammatory cutaneous diseases that are unrelated with respect to pathogenesis, h... | Parapsoriasis |
What are the symptoms of Hirschsprung disease polydactyly heart disease ? | What are the signs and symptoms of Hirschsprung disease polydactyly heart disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Hirschsprung disease polydactyly heart disease. If the information is available, the table below includes how often the symptom is seen in people with thi... | Hirschsprung disease polydactyly heart disease |
What is (are) Endometrial stromal sarcoma ? | Endometrial stromal sarcoma is a rare form of cancer that occurs due to abnormal and uncontrolled cell growth in the uterus. Endometrial stromal sarcoma, specifically, develops in the supporting connective tissue (stroma) of the uterus. Signs and symptoms of the condition include abnormal uterine bleeding (i.e. bleedin... | Endometrial stromal sarcoma |
What is (are) Platelet storage pool deficiency ? | Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, ... | Platelet storage pool deficiency |
What are the symptoms of Platelet storage pool deficiency ? | What are the signs and symptoms of Platelet storage pool deficiency? The signs and symptoms of platelet storage pool deficiency vary but may include: Frequent nosebleeds Abnormally heavy or prolonged menstruation Easy bruising Recurrent anemia Abnormal bleeding after surgery, dental work or childbirth The Human Phenoty... | Platelet storage pool deficiency |
What causes Platelet storage pool deficiency ? | What causes platelet storage pool deficiency? Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Some platelet storage pool def... | Platelet storage pool deficiency |
Is Platelet storage pool deficiency inherited ? | Is platelet storage pool deficiency inherited? Platelet storage pool deficiency refers to a group of conditions that can be acquired (non-inherited) or inherited. Hereditary forms of the condition may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. In autosomal dominant conditions, one c... | Platelet storage pool deficiency |
How to diagnose Platelet storage pool deficiency ? | How is platelet storage pool deficiency diagnosed? A diagnosis of platelet storage pool deficiency is often suspected based on the presence of characteristic signs and symptoms. Specialized laboratory tests can then be ordered to confirm the diagnosis. This testing may include: Bleeding time studies Platelet aggregatio... | Platelet storage pool deficiency |
What are the treatments for Platelet storage pool deficiency ? | How might platelet storage pool deficiency be treated? Treatment for platelet storage pool deficiency is symptomatic. For example, people who have severe episodes of bleeding may require platelet transfusions or antifibrinolytic medications, particularly during periods of high risk such as during surgical procedures or... | Platelet storage pool deficiency |
What are the symptoms of Dermochondrocorneal dystrophy of Franois ? | What are the signs and symptoms of Dermochondrocorneal dystrophy of Franois? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermochondrocorneal dystrophy of Franois. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | Dermochondrocorneal dystrophy of Franois |
What are the symptoms of Scholte syndrome ? | What are the signs and symptoms of Scholte syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Scholte 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 ... | Scholte syndrome |
What are the symptoms of Brachydactyly types B and E combined ? | What are the signs and symptoms of Brachydactyly types B and E combined? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly types B and E combined. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | Brachydactyly types B and E combined |
What are the symptoms of Immune dysfunction with T-cell inactivation due to calcium entry defect 1 ? | What are the signs and symptoms of Immune dysfunction with T-cell inactivation due to calcium entry defect 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Immune dysfunction with T-cell inactivation due to calcium entry defect 1. If the information is available, the table below inc... | Immune dysfunction with T-cell inactivation due to calcium entry defect 1 |
What is (are) Neurofibromatosis ? | Neurofibromatosis (NF) is a genetic condition that causes tumors to develop in the nervous system. There are three types of neurofibromatosis that are each associated with unique signs and symptoms: Neurofibromatosis type 1 (NF1) causes skin changes (cafe-au-lait spots, freckling in armpit and groin area); bone abnorma... | Neurofibromatosis |
Is Neurofibromatosis inherited ? | Is neurofibromatosis inherited? Neurofibromatosis is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may resul... | Neurofibromatosis |
What are the symptoms of Ichthyosiform erythroderma, corneal involvement, deafness ? | What are the signs and symptoms of Ichthyosiform erythroderma, corneal involvement, deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosiform erythroderma, corneal involvement, deafness. If the information is available, the table below includes how often the symptom is s... | Ichthyosiform erythroderma, corneal involvement, deafness |
What are the symptoms of Rhizomelic syndrome ? | What are the signs and symptoms of Rhizomelic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhizomelic 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 Dicti... | Rhizomelic syndrome |
What are the symptoms of Ankyloblepharon filiforme imperforate anus ? | What are the signs and symptoms of Ankyloblepharon filiforme imperforate anus? The Human Phenotype Ontology provides the following list of signs and symptoms for Ankyloblepharon filiforme imperforate anus. If the information is available, the table below includes how often the symptom is seen in people with this condit... | Ankyloblepharon filiforme imperforate anus |
What are the symptoms of Osteoarthropathy of fingers familial ? | What are the signs and symptoms of Osteoarthropathy of fingers familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteoarthropathy of fingers familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | Osteoarthropathy of fingers familial |
What are the symptoms of Leber congenital amaurosis 1 ? | What are the signs and symptoms of Leber congenital amaurosis 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 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 Medline... | Leber congenital amaurosis 1 |
What are the symptoms of Angioma serpiginosum, autosomal dominant ? | What are the signs and symptoms of Angioma serpiginosum, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Angioma serpiginosum, autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | Angioma serpiginosum, autosomal dominant |
What is (are) Acute zonal occult outer retinopathy ? | Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include "whitening of vision" or blurred vision.... | Acute zonal occult outer retinopathy |
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... | Desmoid tumor |
What is (are) Beta-thalassemia ? | Beta-thalassemia is a blood disorder that reduces the body's production of hemoglobin. Low levels of hemoglobin lead to a shortage of mature red blood cells and a lack of oxygen in the body. Affected people have anemia, which can cause paleness, weakness, fatigue, and more serious complications. Severe beta-thalassemia... | Beta-thalassemia |
What are the symptoms of Beta-thalassemia ? | What are the signs and symptoms of Beta-thalassemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Beta-thalassemia. 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 ... | Beta-thalassemia |
Is Beta-thalassemia inherited ? | How is beta-thalassemia inherited? Beta-thalassemia major and beta-thalassemia intermedia are usually inherited in an autosomal recessive manner, which means both copies of the HBB gene in each cell have mutations. The parents of a person with an autosomal recessive condition each carry one copy of the mutated gene and... | Beta-thalassemia |
What is (are) Genoa syndrome ? | Genoa syndrome is a rare condition that primarily affects the brain and skull. Babies with this condition are generally born with semilobar holoprosencephaly, a disorder caused by failure of the developing brain to sufficiently divide into the double lobes of the cerebral hemispheres. They later develop craniosynostosi... | Genoa syndrome |
What are the symptoms of Genoa syndrome ? | What are the signs and symptoms of Genoa syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Genoa 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... | Genoa syndrome |
What is (are) Fibrolamellar carcinoma ? | Fibrolamellar carcinoma (FLC) is a rare form of liver cancer which is generally diagnosed in adolescents and young adults (before age 40). Many people with early FLC have no signs or symptoms of the condition. When present, symptoms are often nonspecific (i.e. abdominal pain, weight loss, malaise) and blamed on other, ... | Fibrolamellar carcinoma |
What are the symptoms of Fibrolamellar carcinoma ? | What are the signs and symptoms of Fibrolamellar carcinoma? Many people with early fibrolamellar carcinoma (FLC) have no signs or symptoms of the condition. When present, symptoms are often nonspecific and blamed on other, more common conditions. Some people affected by FLC may experience the following: Abdominal pain ... | Fibrolamellar carcinoma |
What causes Fibrolamellar carcinoma ? | What causes fibrolamellar carcinoma? The exact underlying cause of fibrolamellar carcinoma (FLC) is poorly understood. Other forms of liver cancer are often associated with liver cirrhosis (scarring of the liver) which may be caused by alcohol abuse; autoimmune diseases of the liver; Hepatitis B or C viral infections; ... | Fibrolamellar carcinoma |
How to diagnose Fibrolamellar carcinoma ? | How is fibrolamellar carcinoma diagnosed? If fibrolamellar carcinoma (FLC) is suspected based on the presence of certain signs and symptoms, imaging studies such as ultrasound, MRI scan and/or CT scan are typically recommended for diagnosis and staging. Unlike other forms of liver cancer, serum alpha fetoprotein is typ... | Fibrolamellar carcinoma |
What are the treatments for Fibrolamellar carcinoma ? | How might fibrolamellar carcinoma be treated? The standard treatment for fibrolamellar carcinoma (FLC) is surgical resection. Due to the rarity of the condition, there is limited information to support the use of other treatment options and there is no standard chemotherapy regimen. However, other treatments may be con... | Fibrolamellar carcinoma |
What are the symptoms of Leber congenital amaurosis 16 ? | What are the signs and symptoms of Leber congenital amaurosis 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 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 Medli... | Leber congenital amaurosis 16 |
What is (are) GM1 gangliosidosis type 1 ? | GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult ons... | GM1 gangliosidosis type 1 |
What are the symptoms of GM1 gangliosidosis type 1 ? | What are the signs and symptoms of GM1 gangliosidosis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for GM1 gangliosidosis type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus M... | GM1 gangliosidosis type 1 |
What is (are) Sjogren syndrome ? | Sjgren syndrome is an autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjgren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of the disorder are dry mouth and dry eyes. In addi... | Sjogren syndrome |
What are the symptoms of Sjogren syndrome ? | What are the signs and symptoms of Sjogren syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sjogren 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 ... | Sjogren syndrome |
What causes Sjogren syndrome ? | What causes Sjogren syndrome? Sjogren syndrome likely results from a combination of genetic and environmental factors (multifactorial). Several different genes appear to affect the risk of developing the condition, however, specific genes have yet to be confirmed. Simply having one of these genes does not cause a perso... | Sjogren syndrome |
Is Sjogren syndrome inherited ? | Is Sjogren syndrome inherited? A genetic predisposition to Sjogren syndrome has been suggested. Familial clustering of different autoimmune diseases as well as co-association of multiple autoimmune diseases in individuals have frequently been reported. Some studies have shown up to 30% of people with Sjogren syndrome h... | Sjogren syndrome |
What is (are) Olmsted syndrome ? | Olmsted syndrome is a rare congenital (present from birth) disorder characterized by symmetrical, well-defined palmoplantar keratoderma (PPK) surrounded by reddened skin and deformities of the joints that lead to constriction and spontaneous amputation; horny growths around the eyes and mouth, nail abnormalities, white... | Olmsted syndrome |
What are the symptoms of Olmsted syndrome ? | What are the signs and symptoms of Olmsted syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Olmsted 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 ... | Olmsted syndrome |
What are the symptoms of Spermatogenesis arrest ? | What are the signs and symptoms of Spermatogenesis arrest? The Human Phenotype Ontology provides the following list of signs and symptoms for Spermatogenesis arrest. 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... | Spermatogenesis arrest |
What are the symptoms of Charcot-Marie-Tooth disease type 2L ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 2L? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2L. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | Charcot-Marie-Tooth disease type 2L |
What are the symptoms of Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency ? | What are the signs and symptoms of Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency. If the information is available, the tab... | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
What are the symptoms of Atelosteogenesis type 1 ? | What are the signs and symptoms of Atelosteogenesis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Atelosteogenesis type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medic... | Atelosteogenesis type 1 |
What are the symptoms of Santos Mateus Leal syndrome ? | What are the signs and symptoms of Santos Mateus Leal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Santos Mateus Leal 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... | Santos Mateus Leal syndrome |
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... | Gliomatosis cerebri |
What is (are) Hyperkalemic periodic paralysis ? | Hyperkalemic periodic paralysis is a genetic condition that causes episodes of extreme muscle weakness, usually beginning in infancy or early childhood. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Episodes tend to increase in frequency until about age 25, after which t... | Hyperkalemic periodic paralysis |
What are the symptoms of Hyperkalemic periodic paralysis ? | What are the signs and symptoms of Hyperkalemic periodic paralysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperkalemic periodic paralysis. 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... | Hyperkalemic periodic paralysis |
What is (are) Primary hyperoxaluria type 2 ? | Primary hyperoxaluria type 2 is a rare condition characterized by the overproduction of a substance called oxalate (also called oxalic acid). In the kidneys, the excess oxalate combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney stones. Deposits of calcium oxalate can le... | Primary hyperoxaluria type 2 |
What are the symptoms of Primary hyperoxaluria type 2 ? | What are the signs and symptoms of Primary hyperoxaluria type 2? Primary hyperoxaluria type 2 is characterized by recurrent nephrolithiasis (deposition of calcium oxalate in the kidney and urinary tract), nephrocalcinosis (deposition of calcium oxalate in the kidney tissue), and end-stage renal disease (ESRD). After ES... | Primary hyperoxaluria type 2 |
What causes Primary hyperoxaluria type 2 ? | What causes primary hyperoxaluria type 2? Researchers have identified more than a dozen GRHPR mutations that cause this condition. These mutations either introduce signals that disrupt production of the glyoxylate reductase/hydroxypyruvate reductase enzyme or alter its structure. As a result, enzyme activity is absent ... | Primary hyperoxaluria type 2 |
Is Primary hyperoxaluria type 2 inherited ? | How is primary hyperoxaluria type 2 inherited? Primary hyperoxaluria type 2 is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do n... | Primary hyperoxaluria type 2 |
What are the treatments for Primary hyperoxaluria type 2 ? | How might primary hyperoxaluria type 2 be treated? The current management strategy includes high fluid intake, treatment with inhibitors of calcium oxalate crystallization, and temporary intensive dialysis for end-stage renal disease (ESRD) followed by kidney transplantation. Varying success has been reported following... | Primary hyperoxaluria type 2 |
What is (are) Preauricular sinus ? | Preauricular sinus is a common birth defect that may be seen during a routine exam of a newborn. It generally appears as a tiny skin-lined hole or pit, often just in front of the upper ear where the cartilage of the ear rim meets the face. It may occur on one side (unilateral) or both sides (bilateral) of the ear. Affe... | Preauricular sinus |
What are the symptoms of Preauricular sinus ? | What are the signs and symptoms of Preauricular sinus? The Human Phenotype Ontology provides the following list of signs and symptoms for Preauricular sinus. 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... | Preauricular sinus |
What are the treatments for Preauricular sinus ? | How might a preauricular sinus be treated? The majority of preauricular sinuses do not cause symptoms or problems unless they become infected. Common signs of infection include swelling, redness, fluid drainage, and pain. In these cases, treatment typically includes systemic antibiotics. If an abscess is present, it wi... | Preauricular sinus |
What are the symptoms of Pallister W syndrome ? | What are the signs and symptoms of Pallister W syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pallister W 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 Dic... | Pallister W syndrome |
What are the symptoms of Familial hyperlipo-proteinemia type 1 ? | What are the signs and symptoms of Familial hyperlipo-proteinemia type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hyperlipo-proteinemia type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | Familial hyperlipo-proteinemia type 1 |
What is (are) Membranous nephropathy ? | Membranous nephropathy is a kidney disease characterized by inflammation of the structures inside the kidney that help filter wastes and fluids. When the glomerular basement membrane becomes thickened, it does not work normally, allowing large amounts of protein to be lost in the urine. Symptoms develop gradually and m... | Membranous nephropathy |
What are the symptoms of Charcot-Marie-Tooth disease type 2K ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 2K? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2K. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | Charcot-Marie-Tooth disease type 2K |
What are the symptoms of CLOVES syndrome ? | What are the signs and symptoms of CLOVES syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CLOVES 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... | CLOVES syndrome |
What is (are) Progressive deafness with stapes fixation ? | Progressive deafness with stapes fixation, also known as Thies Reis syndrome, is a form of conductive or mixed hearing loss caused by fixation of the stapes. The stapes is one of the tiny bones in the middle ear. It rests in the entrance to the inner ear, allowing sounds to pass to the inner ear. If it becomes fixated,... | Progressive deafness with stapes fixation |
What are the symptoms of Progressive deafness with stapes fixation ? | What are the signs and symptoms of Progressive deafness with stapes fixation? Deafness, progressive with stapes fixation is characterized by bilateral hearing loss - either conductive or mixed - and stapes fixation. Hearing loss typically begins between ages 8 and 24. The Human Phenotype Ontology provides the following... | Progressive deafness with stapes fixation |
What causes Progressive deafness with stapes fixation ? | What causes deafness, progressive with stapes fixation? The exact cause of deafness, progressive with stapes fixation depends on whether it is associated with an underlying condition or infection. Isolated cases may be inherited. Autosomal dominant, autosomal recessive, and X-linked cases have been reported. In some c... | Progressive deafness with stapes fixation |
What are the treatments for Progressive deafness with stapes fixation ? | How might deafness, progressive with stapes fixation be treated? Treatment for deafness, progressive with stapes fixation typically involves surgery. The conductive component of the hearing loss can be restored by surgery or hearing aids. The associated sensorineural component is managed by hearing aids or cochlear imp... | Progressive deafness with stapes fixation |
What is (are) Myelomeningocele ? | Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This h... | Myelomeningocele |
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