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train_400.png | What are the treatments for Acanthoma ? | Acanthomas are considered benign, but treatment may be done for cosmetic reasons or to relieve any associated symptoms. Because acanthomas are quite rare, there are no established guidelines for treatment. Treatment may depend on the type, number, and location of acanthomas. For example, a single acanthoma may be re... | |
train_401.png | What are the symptoms of Adult-onset vitelliform macular dystrophy ? | Signs and symptoms of adult-onset vitelliform macular dystrophy typically begin during mid-adulthood, in the fourth or fifth decade of life. At the time of diagnosis, individuals may have minimal visual symptoms (such as mild blurring) or mild metamorphopsia (distorted vision). Cells underlying the macula become more d... | |
train_402.png | What are the symptoms of Arthrogryposis like disorder ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Arthrogryposis like disorder. 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 the definitions for these medi... | |
train_403.png | What causes Anencephaly ? | The underlying cause of anencephaly is not fully understood. Like other forms of neural tube defects (NTDs), anencephaly is likely caused by the interaction of multiple genes and environmental factors, many of which remain unknown. Variations in many genes may influence the risk of developing anencephaly. The best-stud... | |
train_404.png | What are the symptoms of C1q deficiency ? | The Human Phenotype Ontology provides the following list of signs and symptoms for C1q deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Sig... | |
train_405.png | What causes Cleidocranial dysplasia ? | Cleidocranial dysplasia is caused by mutations in the RUNX2 (CBFA1) gene. The RUNX2 gene provides instructions for making a protein that is involved in bone and cartilage development and maintenance. Researchers believe that the RUNX2 protein acts as a "master switch," regulating a number of other genes involved in the... | |
train_406.png | What are the treatments for Alpha-thalassemia ? | Treatment of alpha-thalassemia often includes blood transfusions to provide healthy blood cells that have normal hemoglobin. Bone marrow transplant has helped to cure a small number of individuals with severe alpha-thalassemia. | |
train_407.png | What are the symptoms of Adolescent idiopathic scoliosis ? | Adolescent idiopathic scoliosis is characterized by an abnormal curvature of the spine (usually in an elongated "S" or "C" shape), along with twisted or rotated bones of the spine. Mild scoliosis generally does not cause pain, problems with movement, or difficulty breathing. It may only be diagnosed if it is noticed du... | |
train_408.png | What are the symptoms of Brittle diabetes ? | The main symptom of brittle diabetes is severe instability of blood glucose levels with frequent and unpredictable episodes of hypoglycemia and/or ketoacidosis that cause a disruption of daily activities. Three clinical presentations have been described: Predominant hyperglycemia with recurrent ketoacidosis, Predominan... | |
train_409.png | What causes Branchiootorenal syndrome ? | Mutations in the genes, EYA1, SIX1, and SIX5, are known to cause branchiootorenal syndrome. About 40 percent of people with this condition have a mutation in the EYA1 gene. SIX1 and SIX5 mutations are much less common causes of the disorder. There are likely other genes that have not yet been identified that when mutat... | |
train_410.png | What is (are) Alpha-1 antitrypsin deficiency ? | Alpha-1 antitrypsin deficiency (AATD) is a disorder that causes a deficiency or absence of the alpha-1 antitrypsin (AAT) protein in the blood. AAT is made in the liver and sent through the bloodstream to the lungs, to protect the lungs from damage. Having low levels of ATT (or no ATT) can allow the lungs to become dama... | |
train_411.png | What are the symptoms of Aphalangia partial with syndactyly and duplication of metatarsal IV ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Aphalangia partial with syndactyly and duplication of metatarsal IV. 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... | |
train_412.png | What is (are) Cerebrotendinous xanthomatosis ? | Cerebrotendinous xanthomatosis is a type of lipid storage disease. Symptoms of this condition include diarrhea in infants, cataracts in children, tendon xanthomas, and progressive neurologic dysfunction. It is caused by mutations in the CYP27A1 gene. Treatment may involve chenodeoxycholic acid (CDCA), inhibitors of HMG... | |
train_413.png | What are the symptoms of Cat scratch disease ? | Most people with cat scratch disease have been bitten or scratched by a cat and developed a mild infection at the point of injury. Lymph nodes, especially those around the head, neck, and upper limbs, become swollen. Additionally, a person with cat scratch disease may experience fever, headache, fatigue, achiness and d... | |
train_414.png | What are the symptoms of Cataract, autosomal recessive congenital 2 ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract, autosomal recessive congenital 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 look up the definitions ... | |
train_415.png | What are the symptoms of Cardioauditory syndrome of Sanchez Cascos ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Cardioauditory syndrome of Sanchez Cascos. 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 the definitions f... | |
train_416.png | What are the treatments for Coats disease ? | The treatment of Coats disease depends on the signs and symptoms present in each person. Treatment is usually directed towards destroying affected blood vessels in the retina and salvaging as much vision as possible. A procedure that uses extreme cold to destroy abnormal blood vessels (cryotherapy), and/or a procedure ... | |
train_417.png | What are the symptoms of Beukes familial hip dysplasia ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Beukes familial hip dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these med... | |
train_418.png | What are the treatments for Coccygodynia ? | Treatment for coccygodynia generally falls into conservative management or surgical intervention categories. The conservative approach typically includes hot sitz baths, NSAIDs, stool softeners, and/or the use of a donut-shaped pillow or gel cushion to descrease pressure and irritation of the coccyx. If these treatment... | |
train_419.png | What causes Achondroplasia ? | Achondroplasia is caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Two specific mutations in the FGFR3 gene are responsible for almost all cases of achondroplasia. Researchers believe that these muta... | |
train_420.png | 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... | |
train_421.png | What is (are) Alagille syndrome ? | Alagille syndrome is an inherited disorder in which a person has fewer than the normal number of small bile ducts inside the liver. It is a complex disorder that can affect other parts of the body including the heart, kidneys, blood vessels, eyes, face, and skeleton. Symptoms, including jaundice, pale, loose stools, an... | |
train_422.png | What are the symptoms of Chondrocalcinosis 2 ? | The signs and symptoms of chondrocalcinosis 2 vary from person to person. Some affected people may not have any symptoms of the condition aside from the appearance of calcium deposits on joint x-rays. Others experience chronic pain in affected joints and/or the back if calcium deposits develop around the bones of the s... | |
train_423.png | What are the symptoms of Alopecia totalis ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia totalis. 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 the definitions for these medical terms. S... | |
train_424.png | What is (are) Acanthoma ? | An acanthoma is a small, reddish bump that usually develops on the skin of an older adult. There are several types of acanthoma, including "acantholytic", "epidermolytic", "clear cell", and "melanoacanthoma". Though most individuals have only one acanthoma, there have been rare reports of individuals who have develop... | |
train_425.png | 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 are referred to as carriers. When ... | |
train_426.png | What is (are) Achondroplasia and severe combined immunodeficiency ? | Achondroplasia with severe combined immunodeficiency is an extremely rare type of SCID. The condition is characterized by the classic signs of SCID, including severe and recurrent infections, diarrhea, failure to thrive, and absence of T and B lymphocytes along with skeletal anomalies like short stature, bowing of the ... | |
train_427.png | What are the symptoms of COACH syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for COACH syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Sig... | |
train_428.png | What are the symptoms of Chronic myeloid leukemia ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic myeloid leukemia. 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 the definitions for these medical ... | |
train_429.png | Is Bethlem myopathy inherited ? | Bethlem myopathy is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. IN some cases, an affected person inh... | |
train_430.png | What are the symptoms of Citrullinemia type I ? | Citrullinemia type I presents as a clinical spectrum that includes an acute neonatal form, a milder late-onset form, a form without symptoms and/or hyperammonemia, and a form in which women have onset of severe symptoms during pregnancy or post partum. Infants with the acute neonatal form typically appear normal at bir... | |
train_431.png | What causes Bell's palsy ? | Bell's palsy is believed to be caused by inflammation and swelling of the facial nerve, likely due to a viral infection. While the exact cause is unknown, the herpes simplex virus (the one that causes cold sores) is a common suspect. Other viruses, like varicella-zoster (chickenpox and shingles) and Epstein-Barr, have ... | |
train_432.png | How to diagnose Anophthalmia plus syndrome ? | A review of the available medical literature does not currently yield information about specific diagnostic criteria for anophthalmia plus syndrome (APS). Because APS is so rarely reported, specific diagnostic criteria may not exist. Anophthalmia and/or microphthalmia with oral-facial clefting occurs in a number of kno... | |
train_433.png | What are the symptoms of Cataract and cardiomyopathy ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract and cardiomyopathy. 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 the definitions for these medic... | |
train_434.png | What is (are) Chromosome 12q deletion ? | Chromosome 12q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 12. 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 oc... | |
train_435.png | How to diagnose Amyloidosis corneal ? | Yes. GeneTests lists the names of laboratories that are performing genetic testing for lattice corneal dystrophy. Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care p... | |
train_436.png | What are the 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 Dictionary to look up the definitions for these medical terms.... | |
train_437.png | Is Citrullinemia type I inherited ? | Citrullinemia type I 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 symptoms of the condition. | |
train_438.png | What are the symptoms of Bare lymphocyte syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Bare lymphocyte 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 look up the definitions for these medical ... | |
train_439.png | What is (are) Citrullinemia type I ? | Citrullinemia type I is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. This condition, also known as classic citrullinemia, belongs to a class of genetic diseases called urea cycle disorders. In most cases, the condition becomes evident in the first few days of life. Af... | |
train_440.png | What causes Autoimmune hemolytic anemia ? | In about half of cases, the cause of autoimmune hemolytic anemia cannot be determined (idiopathic or primary). This condition can also be caused by or occur with another disorder (secondary) or rarely, occur following the use of certain drugs (such as penicillin) or after a person has a blood and marrow stem cell trans... | |
train_441.png | What are the symptoms of Amyotonia congenita ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotonia congenita. 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 the definitions for these medical terms... | |
train_442.png | Is Achondrogenesis inherited ? | Achondrogenesis type 1A and type 1B are believed to be inherited in an autosomal recessive pattern. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do ... | |
train_443.png | Is Cleidocranial dysplasia inherited ? | Cleidocranial dysplasia is inherited in an autosomal dominant manner, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from de novo mutations (new mutations) in the gene. Th... | |
train_444.png | What are the symptoms of Autoimmune polyglandular syndrome type 1 ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Autoimmune polyglandular syndrome 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 Medical Dictionary to look up the definitions fo... | |
train_445.png | 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... | |
train_446.png | What are the 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 Medical Dictionary to look up the definitions for these medical... | |
train_447.png | What is (are) Chondrocalcinosis 2 ? | Chondrocalcinosis 2 is a rare condition characterized by the accumulation of calcium pyrophosphate dihydrate crystals in and around the joints. A buildup of these crystals can lead to progressive (worsening over time) joint damage. Some affected people may not have any signs or symptoms of the condition. Others experie... | |
train_448.png | What are the symptoms of Carnosinemia ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Carnosinemia. 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 the definitions for these medical terms. Signs... | |
train_449.png | What is (are) Children's interstitial lung disease ? | Children's interstitial and diffuse lung disease (chILD) is not a single condition, but a group of rare lung diseases found in infants, children and adolescents that can range from mild to severe. All types of chILD decrease a child's ability to supply oxygen to their body. These diseases make it difficult for the lu... | |
train_450.png | What is (are) Alport syndrome ? | Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome also frequently develop sensorineural hearing loss in late chi... | |
train_451.png | How to diagnose Chondrocalcinosis 2 ? | A diagnosis of chondrocalcinosis 2 is often suspected based on characteristic signs and symptoms. Specialized testing, such as synovial fluid analysis, can then be ordered to confirm the diagnosis. In synovial fluid analysis, a small sample of the fluid that surrounds affected joints is removed and examined to determin... | |
train_452.png | What is (are) CHOPS syndrome ? | CHOPS syndrome is rare condition that affects many different parts of the body. "CHOPS" is an acronym for the primary signs and symptoms associated with the condition, including cognitive impairment, coarse facial features, heart defects, obesity, pulmonary (lung) problems, short stature, and skeletal abnormalities. CH... | |
train_453.png | What causes Best vitelliform macular dystrophy ? | Best vitelliform macular dystrophy (BVMD) is caused by changes (mutations) in the BEST1 gene. This gene gives the body instructions for making a protein called bestrophin. Bestrophin acts as a channel that controls the movement of chloride ions within the retina. It is thought that mutations in the BEST1 gene affect th... | |
train_454.png | What is (are) Cluttering ? | Cluttering is a disorder that affects the way a person speaks. It is characterized by a rapid speaking rate and inability to maintain normally expected sound, syllable, phrase, and pausing patterns while speaking. Other symptoms may include stuttering; language or phonological errors (problems organizing sounds); and a... | |
train_455.png | What are the symptoms of Chiari malformation type 3 ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation 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 Medical Dictionary to look up the definitions for these medica... | |
train_456.png | What are the symptoms of Boomerang dysplasia ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Boomerang dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms... | |
train_457.png | What are the 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 look up the definitions for these medical terms. Si... | |
train_458.png | 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 parathyroid hormone, depends on whether the mutated al... | |
train_459.png | What are the symptoms of Chromosome 6q25 microdeletion syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 6q25 microdeletion 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 look up the definitions for ... | |
train_460.png | What is (are) Ainhum ? | Ainhum is the autoamputation of a finger or toe as a result of a fibrotic band that constricts the finger or toe until it falls off. Ainhum most often affects the fifth toe on both feet. Ainhum is believed to be triggered by some sort of trauma, but the exact reason why it happens is not well understood. The condition ... | |
train_461.png | What are the symptoms of Charcot-Marie-Tooth disease type 2G ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2G. 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 the definitions for the... | |
train_462.png | What is (are) Coffin-Siris syndrome ? | Coffin-Siris syndrome is a genetic condition that causes variable degrees of learning disability, developmental delays, underdeveloped pinky toenails or fingernails, and distinct facial features. It can be caused by a change (mutation) in any of several genes including the ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 g... | |
train_463.png | What are the symptoms of Cerebral gigantism jaw cysts ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral gigantism jaw cysts. 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 the definitions for these medi... | |
train_464.png | What are the treatments for Adiposis dolorosa ? | Management of adiposis dolorosa is difficult and no currently available treatments have led to long-lasting, complete pain reduction. Weight reduction, surgical removal of particularly burdensome lesions, and/or liposuction may be helpful for some people. There is currently no drug known to change the course of the dis... | |
train_465.png | What are the symptoms of Amyloidosis familial visceral ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Amyloidosis familial visceral. 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 the definitions for these med... | |
train_466.png | What are the symptoms of Cardiofaciocutaneous syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Cardiofaciocutaneous 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 look up the definitions for these med... | |
train_467.png | What is (are) Adenylosuccinase deficiency ? | Adenylosuccinase deficiency is a rare, inherited metabolic condition that results from a lack of the enzyme adenylosuccinate lyase. Signs and symptoms vary greatly from person to person. In general, affected individuals may have a mix of neurological symptoms, which usually includes abnormalities with cognition and mov... | |
train_468.png | What are the symptoms of Bangstad syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Bangstad 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 look up the definitions for these medical terms. ... | |
train_469.png | What are the symptoms of Baller-Gerold syndrome ? | Many people with Baller-Gerold syndrome have prematurely fused skull bones along the coronal suture, the growth line that goes over the head from ear to ear. Other parts of the skull may be malformed as well. These changes result in an abnormally shaped head, a prominent forehead, and bulging eyes with shallow eye sock... | |
train_470.png | How to diagnose Cerebellar degeneration ? | A diagnosis of cerebellar degeneration is often suspected when concerning signs and symptoms, such as a poorly coordinated gait (walk) and uncoordinated hand/finger movements, are present. For hereditary forms of cerebellar degeneration, genetic testing may be used to confirm the diagnosis. However, this is only an opt... | |
train_471.png | What are the symptoms of Brachydactyly type A1 ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A1. 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 the definitions for these medical ter... | |
train_472.png | What is (are) Charcot-Marie-Tooth disease ? | Charcot-Marie-Tooth disease is a group of disorders that affect the peripheral nerves, the nerves running from outside the brain and spine. Defects in many different genes cause different forms of this disease. Common symptoms may include foot drop, foot deformity, loss of lower leg muscle, numbness in the foot or leg,... | |
train_473.png | What is (are) Camurati Engelmann disease, type 2 ? | Camurati-Engelmann disease is a genetic condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddli... | |
train_474.png | What are the symptoms of Adrenocortical carcinoma ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Adrenocortical carcinoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical ... | |
train_475.png | What is (are) Acquired hemophilia A ? | Acquired hemophilia A is a bleeding disorder that interferes with the body's blood clotting process. Although the condition can affect people of all ages, it generally occurs in older people (the median age of diagnosis is between 60 and 67 years). Signs and symptoms include prolonged bleeding, frequent nosebleeds, bru... | |
train_476.png | What are the symptoms of Aicardi-Goutieres syndrome type 5 ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome type 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 look up the definitions for these... | |
train_477.png | Is Autosomal recessive polycystic kidney disease inherited ? | Autosomal recessive polycystic kidney disease (ARPKD) is inherited in an autosomal recessive manner. This means that an affected individual has two gene alterations (mutations) in the PKHD1 gene, with one mutation inherited from each parent. Each parent, who has one altered copy of the gene, is referred to as a carrier... | |
train_478.png | What are the symptoms of Chudley Rozdilsky syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Chudley Rozdilsky 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 look up the definitions for these medica... | |
train_479.png | Is Amelogenesis imperfecta inherited ? | Amelogenesis imperfecta can have different patterns of inheritance, depending on the gene that is altered. Most cases are caused by mutations in the ENAM gene and are inherited in an autosomal dominant pattern. This type of inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder.... | |
train_480.png | What is (are) C1q nephropathy ? | C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome. C1q is a normal protein in the immune system, and can be found floating in the circulation of most healthy people. In C1q nephropathy, however, this protein ... | |
train_481.png | What are the symptoms of Chitayat Meunier Hodgkinson syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Chitayat Meunier Hodgkinson 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 look up the definitions for th... | |
train_482.png | How to diagnose Cerebrotendinous xanthomatosis ? | Yes, testing of the CYP27A1 gene is available. The Genetic Testing Registry provides information on clinical and research tests available for this condition. How is cerebrotendinous xanthomatosis diagnosed? Cerebrotendinous xanthomatosis is diagnosed by a combination of clinical features, cholestanol levels, and geneti... | |
train_483.png | Is Abetalipoproteinemia inherited ? | Abetalipoproteinemia 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. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessiv... | |
train_484.png | What are the symptoms of Charcot-Marie-Tooth disease type 2O ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2O. 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 the definitions for the... | |
train_485.png | What causes Achondrogenesis ? | Research has shown that changes (mutations) in the SLC26A2 and COL2A1 genes cause achondrogenesis types 1B and 2, respectively. The genetic cause of achondrogenesis type 1A remains unknown. The SLC26A2 gene provides instructions for making a protein that is important for the normal development of cartilage and for the... | |
train_486.png | How to diagnose Bartter syndrome ? | Bartter syndrome is usually diagnosed after a combination of tests are performed on an individual with the signs and symptoms of the condition. Blood test results in an affected individual typically show low blood potassium levels (with normal blood pressure); low blood chloride levels; and an acid/base balance that is... | |
train_487.png | Is Buschke Ollendorff syndrome inherited ? | Buschke Ollendorff syndrome (BOS) is caused by mutations in the LEMD3 gene and is inherited in an autosomal dominant manner. This means that only one changed (mutated) copy of the gene in each cell is sufficient for a person to be affected by the condition. An affected individual may have inherited a mutated copy of th... | |
train_488.png | What is (are) Anencephaly ? | Anencephaly is a type of neural tube defect characterized by abnormal development of the brain and the bones of the skull. The neural tube is a narrow channel that normally folds and closes between the 3rd and 4th weeks of pregnancy, forming the brain and spinal cord of the embryo. Anencephaly occurs when the 'cephalic... | |
train_489.png | What are the symptoms of Aplasia cutis congenita ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Aplasia cutis congenita. 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 the definitions for these medical t... | |
train_490.png | What is (are) Cerebellar degeneration ? | Cerebellar degeneration refers to the deterioration of neurons in the cerebellum (the area of the brain that controls muscle coordination and balance). Conditions that cause cerebellar degeneration may also affect other areas of the central nervous system, such as the spinal cord, the cerebral cortex, and the brain ste... | |
train_491.png | What is (are) Bobble-head doll syndrome ? | Bobble-head doll syndrome (BHDS) is a rare neurological condition that is typically first seen in childhood. The signs and symptoms of BHDS include characteristic up and down head movements that increase during walking and excitement and decrease during concentration. Although the specific cause of this condition is un... | |
train_492.png | What are the treatments for Brody myopathy ? | There have been case reports describing treatment of Brody disease with the muscle relaxant, dantrolene and with calcium channel blockers with varying success. | |
train_493.png | What is (are) CDKL5-related disorder ? | A CDKL5-related disorder is a genetic, neuro-developmental condition due to changes (mutations) in the CDKL5 gene. Epileptic encephalopathy (epilepsy accompanied by cognitive and behavioral problems) is the core symptom of a CDKL5-related disorder. Seizures typically begin before 5 months of age. Affected people often ... | |
train_494.png | What is (are) Chromosome 2q deletion ? | Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. 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 occu... | |
train_495.png | Is Angelman syndrome inherited ? | Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. In these instances, peop... | |
train_496.png | What are the symptoms of BRCA1 hereditary breast and ovarian cancer syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for BRCA1 hereditary breast and ovarian cancer 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 look up the def... | |
train_497.png | What are the symptoms of Aortic arch anomaly - peculiar facies - intellectual disability ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Aortic arch anomaly - peculiar facies - intellectual disability. 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... | |
train_498.png | What are the 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 Dictionary to look up the definitions for these medical terms.... | |
train_499.png | What is (are) Aicardi-Goutieres syndrome type 5 ? | Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin les... |
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