problem stringlengths 16 191 | explanation stringlengths 6 29k ⌀ | type stringlengths 3 136 ⌀ |
|---|---|---|
What are the symptoms of Sakati syndrome ? | What are the signs and symptoms of Sakati syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sakati 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... | Sakati syndrome |
What is (are) Omenn syndrome ? | Omenn syndrome is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by erythroderma (skin redness), desquamation (peeling skin), alopecia (hair loss), chronic diarrhea, failure to thrive, lymphadenopathy (enlarged lymph nodes), eosinophilia, hepatosplenomegaly, and elevated serum IgE ... | Omenn syndrome |
What are the symptoms of Omenn syndrome ? | What are the signs and symptoms of Omenn syndrome? Infants with Omenn syndrome typically present shortly after birth, usually by 3 months of age. This is similar to other types of severe combined immunodeficiency (SCID). The characteristic skin findings (red and peeling skin), chronic diarrhea, and failure to thrive of... | Omenn syndrome |
What causes Omenn syndrome ? | What causes Omenn syndrome? Omenn syndrome is a genetically heterogeneous condition (meaning that it may be caused by a number of different genes). While most cases are attributed to mutations in the RAG genes (RAG-1 and RAG2 genes have been mapped to chromosome band 11p13), recent reports describe Omenn syndrome in th... | Omenn syndrome |
What are the treatments for Omenn syndrome ? | How might Omenn syndrome be treated? The standard treatment for Omenn syndrome is bone marrow transplantation or cord blood stem cell transplantation. General care for any patient with severe combined immunodeficiency (SCID), including Omenn syndrome, includes isolation to prevent infection and meticulous skin and muco... | Omenn syndrome |
What are the symptoms of Maturity-onset diabetes of the young, type 6 ? | What are the signs and symptoms of Maturity-onset diabetes of the young, type 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 6. If the information is available, the table below includes how often the symptom is seen in people with this co... | Maturity-onset diabetes of the young, type 6 |
What is (are) Albright's hereditary osteodystrophy ? | Albright's hereditary osteodystrophy is a syndrome with a wide range of manifestations including short stature, obesity, round face, subcutaneous (under the skin) ossifications (gradual replacement of cartilage by bone), and characteristic shortening and widening of the bones in the hands and feet (brachydactyly). The ... | Albright's hereditary osteodystrophy |
What are the symptoms of Albright's hereditary osteodystrophy ? | What are the signs and symptoms of Albright's hereditary osteodystrophy? Albright's hereditary osteodystophy is a genetic disorder that can cause many different symptoms. People with this disorder usually have short stature, obesity, round face, short bones in the hands and feet (brachydactyly), subcutaneous (under the... | Albright's hereditary osteodystrophy |
What causes Albright's hereditary osteodystrophy ? | What causes Albright's hereditary osteodystrophy? Albright's hereditary osteodystophy is caused by mutations in the GNAS gene. Albright's hereditary osteodystrophy is transmitted as an autosomal dominant trait. The hormone resistance associated with Albright's hereditary osteodystrophy, in particular resistance to para... | Albright's hereditary osteodystrophy |
Is Albright's hereditary osteodystrophy inherited ? | How is progressive osseous heteroplasia inherited? This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. People normally inherit one copy of each gene from their mother and one copy from their father. For most genes, both... | Albright's hereditary osteodystrophy |
What are the treatments for Albright's hereditary osteodystrophy ? | How might Albright's hereditary osteodystrophy be treated? Treatment with calcium and vitamin D supplements help maintain normal levels of calcium in the blood. If there are high levels of phosphate in the blood, it may be recommended to eat a low-phosphorous diet or take medications called phosphate binders to help lo... | Albright's hereditary osteodystrophy |
What is (are) Moyamoya disease ? | Moyamoya disease is a rare, progressive, blood vessel disease caused by blocked arteries at the base of the brain in an area called the basal ganglia. The name "moyamoya" means "puff of smoke" in Japanese and describes the look of the tangled vessels that form to compensate for the blockage. This condition usually affe... | Moyamoya disease |
What are the symptoms of Moyamoya disease ? | What are the signs and symptoms of Moyamoya disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Moyamoya 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 ... | Moyamoya disease |
What causes Moyamoya disease ? | What causes Moyamoya disease? In some families, risk for moyamoya disease is inherited. Changes in the RNF213 gene have been associated with the condition. There are other gene changes involved in moyamoya disease, that remain to be found. Factors such as infection or inflammation, likely also play a role in the condit... | Moyamoya disease |
What are the treatments for Moyamoya disease ? | How might Moyamoya disease be treated? Treatment for Moyamoya disease should begin early in the disease course to prevent severe complications. Surgery is the mainstay of treatment, and is the only viable long-term treatment. There are several types of revascularization surgeries that can restore blood flow to the brai... | Moyamoya disease |
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... | Hypertryptophanemia |
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... | Hypertryptophanemia |
What are the symptoms of Amelogenesis imperfecta nephrocalcinosis ? | What are the signs and symptoms of Amelogenesis imperfecta nephrocalcinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amelogenesis imperfecta nephrocalcinosis. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | Amelogenesis imperfecta nephrocalcinosis |
What is (are) Charcot-Marie-Tooth disease type 2B ? | Charcot-Marie-Tooth disease type 2B (CMT2B) affects the peripheral nerves, the nerves running from outside the brain and spine. Common signs and symptoms include slowly progressive weakness and numbness in the feet, lower leg muscles, hands, and forearms. This type of CMT is also associated with the formation of ulcers... | Charcot-Marie-Tooth disease type 2B |
What are the symptoms of Charcot-Marie-Tooth disease type 2B ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 2B? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2B. 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 2B |
What are the symptoms of Cataract microcornea syndrome ? | What are the signs and symptoms of Cataract microcornea syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract microcornea syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | Cataract microcornea syndrome |
What are the symptoms of Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus ? | What are the signs and symptoms of Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus. If the information is available, the tab... | Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus |
What are the symptoms of Preaxial polydactyly type 2 ? | What are the signs and symptoms of Preaxial polydactyly type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial polydactyly type 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 MedlinePl... | Preaxial polydactyly type 2 |
What is (are) Lennox-Gastaut syndrome ? | Lennox-Gastaut syndrome is a form of severe epilepsy that begins in childhood. It is characterized by multiple types of seizures and intellectual disability. This condition can be caused by brain malformations, perinatal asphyxia (lack of oxygen), severe head injury, central nervous system infection and inherited degen... | Lennox-Gastaut syndrome |
What are the symptoms of Lennox-Gastaut syndrome ? | What are the signs and symptoms of Lennox-Gastaut syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lennox-Gastaut 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... | Lennox-Gastaut syndrome |
What are the symptoms of Hypertelorism and tetralogy of Fallot ? | What are the signs and symptoms of Hypertelorism and tetralogy of Fallot? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertelorism and tetralogy of Fallot. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | Hypertelorism and tetralogy of Fallot |
What are the symptoms of Charcot-Marie-Tooth disease type 2D ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 2D? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2D. 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 2D |
What is (are) Melioidosis ? | Melioidosis is an infectious disease caused by the bacteria Burkholderia pseudomallei that are commonly found in the soil and water. Melioidosis is a rare disease in the United States, but it is common in tropical or subtropical areas of the world, including Southeast Asia, Africa, and Australia. The signs and symptoms... | Melioidosis |
What are the symptoms of Deafness, autosomal recessive 51 ? | What are the signs and symptoms of Deafness, autosomal recessive 51? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, autosomal recessive 51. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | Deafness, autosomal recessive 51 |
What are the symptoms of Mental retardation, X-linked, nonspecific ? | What are the signs and symptoms of Mental retardation, X-linked, nonspecific? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation, X-linked, nonspecific. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | Mental retardation, X-linked, nonspecific |
What is (are) Landau-Kleffner syndrome ? | Landau-Kleffner syndrome (LKS) is a rare, childhood neurological disorder characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and an abnormal electro-encephalogram (EEG). The disorder usually occurs in children between age 2 and 8. Typically, children with LKS... | Landau-Kleffner syndrome |
What are the symptoms of Landau-Kleffner syndrome ? | What are the signs and symptoms of Landau-Kleffner syndrome? Landau-Kleffner syndrome is characterized by the sudden or gradual development of aphasia (the inability to understand or express language) in previously normal children along with an abnormal electro-encephalogram (EEG). It most frequently occurs in children... | Landau-Kleffner syndrome |
How to diagnose Landau-Kleffner syndrome ? | How is Landau-Kleffner syndrome (LKS) diagnosed? LKS is diagnosed based on clinical features and the results of an electroencephalogram (EEG), a recording of the electric activity of the brain. All LKS children have abnormal electrical brain activity on both the right and left sides of their brains. | Landau-Kleffner syndrome |
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... | Griscelli syndrome type 3 |
What are the symptoms of Dystonia 18 ? | What are the signs and symptoms of Dystonia 18? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 18. 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... | Dystonia 18 |
What are the symptoms of Thymic-Renal-Anal-Lung dysplasia ? | What are the signs and symptoms of Thymic-Renal-Anal-Lung dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Thymic-Renal-Anal-Lung 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... | Thymic-Renal-Anal-Lung dysplasia |
What are the symptoms of Joubert syndrome with oculorenal anomalies ? | What are the signs and symptoms of Joubert syndrome with oculorenal anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Joubert syndrome with oculorenal anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condit... | Joubert syndrome with oculorenal anomalies |
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... | Norrie disease |
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... | Norrie disease |
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... | Norrie disease |
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... | Norrie disease |
What are the symptoms of Visceral steatosis ? | What are the signs and symptoms of Visceral steatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Visceral steatosis. 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... | Visceral steatosis |
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... | Trichodental syndrome |
What are the symptoms of Severe congenital neutropenia autosomal dominant ? | What are the signs and symptoms of Severe congenital neutropenia autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe congenital neutropenia autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with... | Severe congenital neutropenia autosomal dominant |
What is (are) Shapiro syndrome ? | Shapiro syndrome is a rare disease affecting about 50 people worldwide that is typically characterized by recurrent episodes of excessive sweating and hypothermia and the agenesis of the corpus callosum. The duration and frequency of the episodes vary from person to person, with some episodes lasting hours to weeks and... | Shapiro syndrome |
What are the symptoms of Shapiro syndrome ? | What are the signs and symptoms of Shapiro syndrome? Shapiro syndrome generally consists of three findings: spontaneous periodic hypothermia, excessive sweating, and agenesis of the corpus callosum. However, there has been a documented case of a 4-year-old girl with Shapiro syndrome who did not have agenesis of the cor... | Shapiro syndrome |
What are the treatments for Shapiro syndrome ? | What treatment options have been attempted for Shapiro syndrome? Evaluating effective treatment options for Shapiro syndrome can be difficult because of the limited number of diagnosed cases, the periodic nature of the disease, and other factors. Nonetheless, the following have been attempted and have resulted in varyi... | Shapiro syndrome |
What is (are) Floating-Harbor syndrome ? | Floating-Harbor syndrome is a genetic disorder that was named for the first two identified patients who were seen at Boston Floating Hospital and Harbor General Hospital in California. The main characteristics of this syndrome are short stature, delayed bone growth, delay in expressive language, and distinct facial fea... | Floating-Harbor syndrome |
What are the symptoms of Floating-Harbor syndrome ? | What are the signs and symptoms of Floating-Harbor syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Floating-Harbor 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... | Floating-Harbor syndrome |
What causes Floating-Harbor syndrome ? | What causes Floating-Harbor syndrome? The exact cause of Floating-Harbor syndrome is not known. Autosomal dominant inheritance has been suggested. | Floating-Harbor syndrome |
What are the treatments for Floating-Harbor syndrome ? | How might Floating-Harbor syndrome be treated? Treatment for Floating-Harbor syndrome is symptomatic and supportive. For example, dental problems and cataracts may be surgically corrected and sign language and/or speech therapy may help with delays in expressive language. Additional management strategies may be obtaine... | Floating-Harbor syndrome |
What is (are) Autosomal recessive hyper IgE syndrome ? | Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare primary immunodeficiency syndrome characterized by highly elevated blood levels of immunoglobulin E (IgE), recurrent staphylococcal skin abscesses, and recurrent pneumonia. The same features are also seen in the more frequent autosomal dominant HIES syndro... | Autosomal recessive hyper IgE syndrome |
What are the symptoms of Autosomal recessive hyper IgE syndrome ? | What are the signs and symptoms of Autosomal recessive hyper IgE syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive hyper IgE syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | Autosomal recessive hyper IgE syndrome |
What are the symptoms of Severe achondroplasia with developmental delay and acanthosis nigricans ? | What are the signs and symptoms of Severe achondroplasia with developmental delay and acanthosis nigricans? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe achondroplasia with developmental delay and acanthosis nigricans. If the information is available, the table below include... | Severe achondroplasia with developmental delay and acanthosis nigricans |
What is (are) Calciphylaxis ? | Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes it to die (necrosis). The most obvious and frequ... | Calciphylaxis |
What is (are) Acrodysplasia scoliosis ? | Acrodysplasia scoliosis is a rare condition that has been reported in two brothers. The condition is characterized by scoliosis, brachydactyly (unusually short fingers and toes), spina bifida occulta, and carpal synostosis (fused bones of the wrist). The underlying genetic cause of the condition is unknown, but it appe... | Acrodysplasia scoliosis |
What are the symptoms of Acrodysplasia scoliosis ? | What are the signs and symptoms of Acrodysplasia scoliosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrodysplasia scoliosis. 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... | Acrodysplasia scoliosis |
What is (are) Myxopapillary ependymoma ? | Myxopapillary ependymoma (MEPN) is a slow-growing ependymoma (a type of glioma, which is a tumor that arises from the supportive tissue of the brain). They tend to occur in the lower part of the spinal column and are usually considered to be benign, low-grade or grade I tumors. The age of diagnosis ranges from 6 to 82 ... | Myxopapillary ependymoma |
What are the treatments for Myxopapillary ependymoma ? | How might myxopapillary ependymoma be treated? Standard treatment of myxopapillary ependymoma is surgery with the aim of removing as much of the tumor as possible. This tumor type may be cured if all of the tumor is removed during surgery, which is referred to as total resection, and there is usually a favorable outloo... | Myxopapillary ependymoma |
What are the symptoms of Copper deficiency, familial benign ? | What are the signs and symptoms of Copper deficiency, familial benign? The Human Phenotype Ontology provides the following list of signs and symptoms for Copper deficiency, familial benign. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | Copper deficiency, familial benign |
What is (are) Frank Ter Haar syndrome ? | Frank-Ter Haar syndrome is a rare inherited condition characterized by multiple skeletal abnormalities, developmental delay, and characteristic facial features (unusually large cornea, flattened back of the head, wide fontanels, prominent forehead, widely spaced eyes, prominent eyes, full cheeks, and small chin). Less ... | Frank Ter Haar syndrome |
What are the symptoms of Frank Ter Haar syndrome ? | What are the signs and symptoms of Frank Ter Haar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Frank Ter Haar 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... | Frank Ter Haar syndrome |
What is (are) Isovaleric acidemia ? | Isovaleric acidemia (IVA) is a type of organic acid disorder in which affected individuals have problems breaking down an amino acid called leucine from the food they eat. Signs and symptoms may range from very mild to life-threatening. In severe cases, symptoms begin within a few days of birth and include poor feeding... | Isovaleric acidemia |
What are the symptoms of Isovaleric acidemia ? | What are the signs and symptoms of Isovaleric acidemia? Health problems related to isovaleric acidemia range from very mild to life-threatening. In severe cases, the features of isovaleric acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, seizures, and lack of ... | Isovaleric acidemia |
What causes Isovaleric acidemia ? | What causes isovaleric acidemia? Isovaleric acidemia is caused by mutations in the IVD gene. The IVD gene provides instructions for making an enzyme that plays an essential role in breaking down proteins from the diet. Specifically, this enzyme helps process the amino acid leucine, which is part of many proteins. If a ... | Isovaleric acidemia |
Is Isovaleric acidemia inherited ? | How is isovaleric acidemia inherited? Isovaleric acidemia 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 not show signs and ... | Isovaleric acidemia |
What are the treatments for Isovaleric acidemia ? | How might isovaleric acidemia be treated? There is currently no cure for isovaleric acidemia (IVA). Upon diagnosis, immediate treatment is typically necessary in order to prevent metabolic crises and complications that may follow. It is often recommended that affected individuals have a low-leucine / low-protein diet a... | Isovaleric acidemia |
What are the symptoms of Deafness with labyrinthine aplasia microtia and microdontia (LAMM) ? | What are the signs and symptoms of Deafness with labyrinthine aplasia microtia and microdontia (LAMM)? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness with labyrinthine aplasia microtia and microdontia (LAMM). If the information is available, the table below includes how ofte... | Deafness with labyrinthine aplasia microtia and microdontia (LAMM) |
What is (are) Toxocariasis ? | Toxocariasis is a parasitic condition caused by the larvae of two species of Toxocara roundworms: Toxocara canis (from dogs) and Toxocara cati (from cats). Many people who are infected with Toxocara never develop any signs or symptoms of the condition. In those who do become sick, symptoms may present as: Ocular Toxoca... | Toxocariasis |
What is (are) Tracheal agenesis ? | Tracheal agenesis is a rare birth defect in which the trachea (windpipe) is completely absent (agenesis) or significantly underdeveloped (atresia). Signs and symptoms include polyhydramnios during pregnancy and respiratory distress, bluish skin color (cyanosis) and no audible cry shortly after birth. The underlying cau... | Tracheal agenesis |
What are the symptoms of Tracheal agenesis ? | What are the signs and symptoms of Tracheal agenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Tracheal agenesis. 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... | Tracheal agenesis |
What is (are) Cogan-Reese syndrome ? | Cogan-Reese syndrome is one type of Iridocorneal Endothelial (ICE) syndrome. The ICE syndromes predominantly affect Caucasian, young to middle-aged women, and involve one eye. While there have been some cases of Cogan-Reese syndrome reported in children, the disease is typically observed in females in the mid-adult yea... | Cogan-Reese syndrome |
What is (are) Tarsal carpal coalition syndrome ? | Tarsal carpal coalition syndrome is a genetic condition characterized by fusion of the bones in the wrist (carpals), feet (tarsals), and the fingers and toes (phalanges). Other bone abnormalities in the hands and feet may be present. Approximately 10 affected families have been described. Tarsal carpal coalition syndro... | Tarsal carpal coalition syndrome |
What are the symptoms of Tarsal carpal coalition syndrome ? | What are the signs and symptoms of Tarsal carpal coalition syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tarsal carpal coalition 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... | Tarsal carpal coalition syndrome |
What is (are) Sclerosing mesenteritis ? | Sclerosing mesenteritis is one of many terms used to describe a spectrum of chronic inflammatory diseases affecting the small bowel mesentery, the membrane that anchors the small intestine to the back of the abdominal wall. The cause of this condition is unknown. The most common symptom is abdominal pain or a palpable... | Sclerosing mesenteritis |
What are the symptoms of Sclerosing mesenteritis ? | What are the signs and symptoms of sclerosing mesenteritis? Common symptoms of sclerosing mesenteritis include abdominal pain or a palpable abdominal mass, weight loss, abdominal distention, vomiting, diarrhea, constipation, and fever of unknown cause. | Sclerosing mesenteritis |
What are the treatments for Sclerosing mesenteritis ? | How might sclerosing mesenteritis be treated? Treatment for sclerosing mesenteritis is most often based on the stage of the disease. In the early stage when fat necrosis predominates, many physicians tend not to treat because the disease process may regress spontaneously. When chronic inflammation becomes a prominent f... | Sclerosing mesenteritis |
What are the symptoms of Dehydrated hereditary stomatocytosis ? | What are the signs and symptoms of Dehydrated hereditary stomatocytosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Dehydrated hereditary stomatocytosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | Dehydrated hereditary stomatocytosis |
What are the symptoms of Mental retardation-hypotonic facies syndrome X-linked, 1 ? | What are the signs and symptoms of Mental retardation-hypotonic facies syndrome X-linked, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation-hypotonic facies syndrome X-linked, 1. If the information is available, the table below includes how often the symptom is see... | Mental retardation-hypotonic facies syndrome X-linked, 1 |
What are the symptoms of Normophosphatemic familial tumoral calcinosis ? | What are the signs and symptoms of Normophosphatemic familial tumoral calcinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Normophosphatemic familial tumoral calcinosis. If the information is available, the table below includes how often the symptom is seen in people with this ... | Normophosphatemic familial tumoral calcinosis |
What is (are) HAIR-AN syndrome ? | HAIR-AN syndrome is a condition that affects women. It is characterized by hyperandrogenism, insulin resistance, and acanthosis nigricans. Insulin resistance is a condition in which the body produces insulin but does not use it properly. This causes the pancreas to produce more insulin. High levels of insulin stimulate... | HAIR-AN syndrome |
What are the symptoms of Epilepsy progressive myoclonic type 3 ? | What are the signs and symptoms of Epilepsy progressive myoclonic type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Epilepsy progressive myoclonic type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | Epilepsy progressive myoclonic type 3 |
What are the symptoms of PCDH19-related female-limited epilepsy ? | What are the signs and symptoms of PCDH19-related female-limited epilepsy? The Human Phenotype Ontology provides the following list of signs and symptoms for PCDH19-related female-limited epilepsy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | PCDH19-related female-limited epilepsy |
What is (are) Multiple sclerosis ? | Multiple sclerosis (MS) is a degenerative disorder that affects the central nervous system, specifically the brain and the spinal cord. The disorder is characterized by destruction of the myelin, the fatty tissue that surrounds and protects the nerve fibers and promotes the transmission of nerve impulses, and damage to... | Multiple sclerosis |
What are the symptoms of Multiple sclerosis ? | What are the signs and symptoms of Multiple sclerosis? The peak age of onset is between ages 20 and 40, although it may develop in children and has also been identified in individuals over 60 years of age. The most common signs and symptoms include sensory disturbance of the limbs; partial or complete visual loss; acut... | Multiple sclerosis |
What causes Multiple sclerosis ? | What causes multiple sclerosis? Studies suggest that there are many factors that influence whether a person will develop multiple sclerosis (MS). The factors that contribute to its onset are multiple and may vary from person to person. The signs and symptoms of MS occur as a result of inflammation, loss of the protecti... | Multiple sclerosis |
How to diagnose Multiple sclerosis ? | How is multiple sclerosis diagnosed? Symptoms of multiple sclerosis (MS) may be similar to those of many other nervous system disorders. The disease is made based on the person's signs and symptoms and is typically diagnosed by ruling out other conditions. "Dissemination in time and space" are commonly-used criteria fo... | Multiple sclerosis |
What is (are) Neurofibroma ? | A neurofibroma is a non-cancerous (benign) tumor that develops from the cells and tissues that cover nerves. Some people who develop neurofibromas have a genetic condition known as neurofibromatosis (NF). There are different types of NF, but type 1 is the most common. | Neurofibroma |
What are the symptoms of Reardon Wilson Cavanagh syndrome ? | What are the signs and symptoms of Reardon Wilson Cavanagh syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Reardon Wilson Cavanagh 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... | Reardon Wilson Cavanagh syndrome |
What are the symptoms of Dandy-Walker like malformation with atrioventricular septal defect ? | What are the signs and symptoms of Dandy-Walker like malformation with atrioventricular septal defect? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker like malformation with atrioventricular septal defect. If the information is available, the table below includes how ofte... | Dandy-Walker like malformation with atrioventricular septal defect |
What are the symptoms of Optic atrophy 5 ? | What are the signs and symptoms of Optic atrophy 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 5. 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... | Optic atrophy 5 |
What is (are) HELLP syndrome ? | null | HELLP syndrome |
What are the symptoms of HELLP syndrome ? | What are the signs and symptoms of HELLP syndrome? Women with HELLP syndrome may feel tired, have pain in the upper right part of the belly, have bad headaches, and nausea or vomiting. They may also experience swelling, especially of the face and hands. Vision problems may also be observed. Rarely, they may have bleedi... | HELLP syndrome |
What causes HELLP syndrome ? | What causes HELLP syndrome? Doctors are still unclear on what exactly causes HELLP syndrome. Although it is more common in women who have preeclampsia or pregnancy induced hypertension (high blood pressure), there are still a number of women who get it without previously showing signs of preeclampsia. The following ris... | HELLP syndrome |
What is (are) Trismus-pseudocamptodactyly syndrome ? | Trismus-pseudocamptodactyly syndrome is a disorder of muscle development and function. It is characterized by short muscles and tendons resulting in limited range of motion of the hands, legs, and mouth. Both sporadic occurrence and autosomal dominant inheritance have been reported in the medical literature. The most s... | Trismus-pseudocamptodactyly syndrome |
What are the symptoms of Trismus-pseudocamptodactyly syndrome ? | What are the signs and symptoms of Trismus-pseudocamptodactyly syndrome? While the symptoms of trismus-pseudocamptodactyly syndrome vary from patient to patient, characteristic symptoms include the inability to open the mouth wide (e.g., less than 6 mm, just under 1/4 of an inch) and shortened muscles, including of the... | Trismus-pseudocamptodactyly syndrome |
What are the treatments for Trismus-pseudocamptodactyly syndrome ? | How might trismus-pseudocamptodactyly syndrome be treated? While the best treatment options for trismus-pseudocamptodactyly syndrome have not been well established cases of improvement of mouth mobility following surgery and physical therapy have been reported in the medical literature. We recommend that you speak with... | Trismus-pseudocamptodactyly syndrome |
What is (are) Porphyria cutanea tarda ? | Porphyria cutanea tarda (PCT) is a form of porphyria that primarily affects the skin. People affected by this condition generally experience "photosensitivity," which causes painful, blistering lesions to develop on sun-exposed areas of the skin (i.e. the hands and face). Skin in these areas may also be particularly fr... | Porphyria cutanea tarda |
What are the symptoms of Porphyria cutanea tarda ? | What are the signs and symptoms of Porphyria cutanea tarda? The Human Phenotype Ontology provides the following list of signs and symptoms for Porphyria cutanea tarda. 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... | Porphyria cutanea tarda |
What is (are) Hidradenocarcinoma ? | Hidradenocarcinoma is a tumor caused by the abnormal growth of cells in a sweat gland. It is a type of cancer that usually begins as a single spot (lesion) on the skin of the head or neck, but it has also been found on other parts of the body. This type of tumor typically develops in older individuals (after age 40).... | Hidradenocarcinoma |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.