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What are the symptoms of Autosomal recessive nonsyndromic congenital nuclear cataract ? | What are the signs and symptoms of Autosomal recessive nonsyndromic congenital nuclear cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive nonsyndromic congenital nuclear cataract. If the information is available, the table below includes how often the sympto... | Autosomal recessive nonsyndromic congenital nuclear cataract |
What are the symptoms of Aniridia absent patella ? | What are the signs and symptoms of Aniridia absent patella? The Human Phenotype Ontology provides the following list of signs and symptoms for Aniridia absent patella. 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... | Aniridia absent patella |
What is (are) Ehlers-Danlos syndrome ? | Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders that is caused by abnormalities in the structure, production, and/or processing of collagen. There are 6 major forms of EDS: hypermobility type, classic type, vascular type, kyphoscoliosis type, arthrochalasia type, and dermatosparaxis typ... | Ehlers-Danlos syndrome |
What are the symptoms of Ehlers-Danlos syndrome ? | What are the signs and symptoms of Ehlers-Danlos syndrome? There are six major types of Ehlers-Danlos syndrome (EDS). Although there is significant overlap in associated features, the subtypes are classified based on their unique signs and symptoms: Hypermobility type - characterized primarily by joint hypermobility af... | Ehlers-Danlos syndrome |
What causes Ehlers-Danlos syndrome ? | What causes Ehlers-Danlos syndrome? Ehlers-Danlos syndrome can be caused by changes (mutations) in several different genes (COL5A1, COL5A2, COL1A1, COL3A1, TNXB, PLOD1, COL1A2, and ADAMTS2). However, the underlying genetic cause is unknown in some families. Mutations in these genes usually alter the structure, producti... | Ehlers-Danlos syndrome |
Is Ehlers-Danlos syndrome inherited ? | Is Ehlers-Danlos syndrome inherited? The inheritance pattern of Ehlers-Danlos syndrome (EDS) varies by subtype. The arthrochalasia, classic, hypermobility, and vascular forms of the disorder usually have an autosomal dominant pattern of inheritance. This means that to be affected, a person only needs a change (mutation... | Ehlers-Danlos syndrome |
How to diagnose Ehlers-Danlos syndrome ? | How is Ehlers-Danlos syndrome diagnosed? A diagnosis of Ehlers-Danlos syndrome is typically based on the presence of characteristic signs and symptoms. Depending on the subtype suspected, some of the following tests may be ordered to support the diagnosis: Collagen typing performed on a skin biopsy may aid in the diagn... | Ehlers-Danlos syndrome |
What are the treatments for Ehlers-Danlos syndrome ? | How might Ehlers-Danlos syndrome be treated? There is no specific cure for Ehlers-Danlos syndrome (EDS). The treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. Because the features of EDS vary by subtype, management strategies differ slightly. For more s... | Ehlers-Danlos syndrome |
What is (are) Adult-onset vitelliform macular dystrophy ? | Adult-onset vitelliform macular dystrophy (AVMD) is an eye disorder that can cause progressive vision loss. AVMD affects an area of the retina called the macula, which is responsible for sharp central vision. The condition causes a fatty yellow pigment to accumulate in cells underlying the macula, eventually damaging t... | Adult-onset vitelliform macular dystrophy |
What are the symptoms of Adult-onset vitelliform macular dystrophy ? | What are the signs and 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 mil... | Adult-onset vitelliform macular dystrophy |
What causes Adult-onset vitelliform macular dystrophy ? | What causes adult-onset vitelliform dystrophy? Historically, adult-onset vitelliform macular dystrophy (AVMD) was defined as a genetic disorder; however, recent studies have concluded that only a minority of cases have an identified genetic cause, suggesting that there might be other underlying causes of environmental ... | Adult-onset vitelliform macular dystrophy |
Is Adult-onset vitelliform macular dystrophy inherited ? | How is adult-onset vitelliform macular dystrophy inherited? The majority of cases with an identified family history or genetic cause are inherited in an autosomal dominant manner. This means that in order to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some c... | Adult-onset vitelliform macular dystrophy |
What are the treatments for Adult-onset vitelliform macular dystrophy ? | How might adult-onset vitelliform macular dystrophy be treated? Management for this condition should include a comprehensive eye examination, including dilation, once or twice a year to rule out any possible complications. If vision is impaired, patients should be referred for low vision testing and rehabilitation. Int... | Adult-onset vitelliform macular dystrophy |
What is (are) Granuloma annulare ? | Granuloma annulare is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. The most commonly affected areas are the forearms, hands and feet. The lesions associated with granuloma annulare usually resolve without treatment. Strong steroids (applied as a cream or injec... | Granuloma annulare |
What are the symptoms of Granuloma annulare ? | What symptoms are associated with granuloma annulare? People with this condition usually notice a ring of small, firm bumps (papules) over the backs of the forearms, hands or feet. Occasionally, multiple rings may be found. Rarely, granuloma annulare may appear as a firm nodule under the skin of the arms or legs. | Granuloma annulare |
What causes Granuloma annulare ? | What causes granuloma annulare? The cause of granuloma annulare is unknown, although there is much evidence that it is linked to the immune system. It has been reported to follow insect bites; sun exposure; tuberculin skin tests, ingestion of allopurinol; trauma; and viral infections, including Epstein-Barr, HIV, hepat... | Granuloma annulare |
What are the treatments for Granuloma annulare ? | How might granuloma annulare be treated? Granuloma annulare is difficult to treat and there are a limited number of clinical trials to reliably inform patients and physicians of the treatment options. Fortunately, most lesions of granuloma annulare disappear with no treatment within two years. Sometimes, however, the r... | Granuloma annulare |
What is (are) Buschke Ollendorff syndrome ? | Buschke Ollendorff syndrome (BOS) is a genetic condition of the connective tissue. Common signs and symptoms include non-cancerous skin lumps and spots of increased bone density (which can be seen on X-ray). Some people with BOS have both skin and bone symptoms, while others have one or the other. Individual cases of ... | Buschke Ollendorff syndrome |
What are the symptoms of Buschke Ollendorff syndrome ? | What are the signs and symptoms of Buschke Ollendorff syndrome? Buschke Ollendorff syndrome (BOS) is an association of connective tissue nevi and osteopoikilosis (small, round areas of increased bone density). The nevi are typically present on the trunk, in the sacrolumbar region (lower back and sacrum), and on the ext... | Buschke Ollendorff syndrome |
Is Buschke Ollendorff syndrome inherited ? | How 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 indi... | Buschke Ollendorff syndrome |
How to diagnose Buschke Ollendorff syndrome ? | Is genetic testing available for Buschke Ollendorff syndrome? Yes. GeneTests lists the names of laboratories that are performing genetic testing for Buschke Ollendorff syndrome. To view the contact information for the clinical laboratories conducting testing, click here. Please note: Most of the laboratories listed thr... | Buschke Ollendorff syndrome |
What are the treatments for Buschke Ollendorff syndrome ? | How might Buschke Ollendorff syndrome be treated? There is currently no cure for BOS. Surgical removal of lesions on or under the skin may be done for cosmetic purposes. In some patients, surgical treatment of deafness may be possible. Surgery might also be necessary for some of the signs or symptoms associated with BO... | Buschke Ollendorff syndrome |
What are the symptoms of Dysequilibrium syndrome ? | What are the signs and symptoms of Dysequilibrium syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Dysequilibrium 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... | Dysequilibrium syndrome |
What are the symptoms of Diffuse panbronchiolitis ? | What are the signs and symptoms of Diffuse panbronchiolitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse panbronchiolitis. 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... | Diffuse panbronchiolitis |
What is (are) Non-involuting congenital hemangioma ? | Non-involuting congenital hemangioma (NICH) is a rare type of infantile hemangioma, which is a tumor that forms from the abnormal growth of blood vessels in the skin. NICH looks like an oval, purplish mark or bump that can occur on any part of the body. NICH is present from birth (congenital) and increases in size as... | Non-involuting congenital hemangioma |
How to diagnose Non-involuting congenital hemangioma ? | How is non-involuting congenital hemangioma diagnosed? Non-involuting congenital hemangioma (NICH) is diagnosed by taking a biopsy of the skin mark and examining the tissue under a microscope. NICH looks different under the microscope than most infantile hemangiomas because the blood vessels are arranged more irregula... | Non-involuting congenital hemangioma |
What are the treatments for Non-involuting congenital hemangioma ? | How might non-involuting congenital hemangioma treated? Because non-involuting congenital hemangioma (NICH) is quite rare, there are no established guidelines for the treatment of this condition. However, the authors of one article on NICH suggest that there is no risk for excessive bleeding during the removal of an N... | Non-involuting congenital hemangioma |
What are the symptoms of Pili torti onychodysplasia ? | What are the signs and symptoms of Pili torti onychodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili torti onychodysplasia. 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... | Pili torti onychodysplasia |
What is (are) Werner's syndrome ? | Werner's syndrome is a disease chiefly characterized by premature aging and cancer predisposition. Development is typically normal until the end of the first decade; the first sign is the lack of a growth spurt during puberty. Early signs (usually in the 20s) include loss and graying of hair, hoarseness, and scleroderm... | Werner's syndrome |
What are the symptoms of Werner's syndrome ? | What are the signs and symptoms of Werner's syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Werner's syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionar... | Werner's syndrome |
What is (are) Giant congenital nevus ? | A giant congenital nevus is a dark-colored, often hairy patch of skin that is present at birth (congenital). It grows proportionally to the child. A congenital pigmented nevus is considered giant if by adulthood it is larger than 20cm (about 8 inches) in diameter. Giant congenital nevi can occur in people of any racial... | Giant congenital nevus |
What are the symptoms of Giant congenital nevus ? | What are the signs and symptoms of Giant congenital nevus? The Human Phenotype Ontology provides the following list of signs and symptoms for Giant congenital nevus. 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... | Giant congenital nevus |
What are the treatments for Giant congenital nevus ? | How might giant congenital nevus be treated? Treatment for giant congenital nevus depends on the age of the affected individual as well as the size, location, and thickness of the nevus. Surgery may be done to remove the nevus, particularly when there is a concern that it may develop into a melanoma. When small nevi ar... | Giant congenital nevus |
What is (are) Fetal and neonatal alloimmune thrombocytopenia ? | Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a condition where a fetus or newborn experiences severe thrombocytopenia (low platelet count). NAIT occurs when the mother's immune system develops antibodies against antigens on the fetal platelets, which are inherited from the father and different from those pr... | Fetal and neonatal alloimmune thrombocytopenia |
What are the treatments for Fetal and neonatal alloimmune thrombocytopenia ? | How might fetal and neonatal alloimmune thrombocytopenia (NAIT) be treated? NAIT is often unexpected and is usually diagnosed after birth. Once suspected, the diagnosis is confirmed by demonstration of maternal anti-platelet antibodies directed against a paternal antigen inherited by the baby. Management in the newborn... | Fetal and neonatal alloimmune thrombocytopenia |
What is (are) Maffucci syndrome ? | Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas (benign enlargements of cartilage), bone deformities, and hemangiomas (tangles of abnormal of blood vessels). The abnormal growths associated with Maffucci syndrome may become cancerous (malignant). I... | Maffucci syndrome |
What are the symptoms of Maffucci syndrome ? | What are the signs and symptoms of Maffucci syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Maffucci syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionar... | Maffucci syndrome |
What are the treatments for Maffucci syndrome ? | How might Maffucci syndrome be treated? Management aims at relief of symptoms and early detection of malignancies. Individuals with Maffucci syndrome may benefit from consultations with the following specialists: Radiologist: Radiography or CT scanning performed periodically to evaluate bone changes. Orthopedic surgeon... | Maffucci syndrome |
What are the symptoms of Van Den Bosch syndrome ? | What are the signs and symptoms of Van Den Bosch syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Van Den Bosch 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... | Van Den Bosch syndrome |
What are the symptoms of Spondyloepimetaphyseal dysplasia with multiple dislocations ? | What are the signs and symptoms of Spondyloepimetaphyseal dysplasia with multiple dislocations? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia with multiple dislocations. If the information is available, the table below includes how often the symptom ... | Spondyloepimetaphyseal dysplasia with multiple dislocations |
What are the symptoms of Hyperlipoproteinemia type 5 ? | What are the signs and symptoms of Hyperlipoproteinemia type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperlipoproteinemia 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 MedlinePl... | Hyperlipoproteinemia type 5 |
What is (are) Pterygium of the conjunctiva and cornea ? | Pterygium of the conjunctiva and cornea is a benign (non-cancerous) pink lesion that grows from the conjunctiva onto the cornea. They typically start from on the inner surface of the eye, and grow toward the the pupil. Long term exposure to ultraviolet light has been associated with causing this condition. Depending on... | Pterygium of the conjunctiva and cornea |
What are the symptoms of Pterygium of the conjunctiva and cornea ? | What are the signs and symptoms of Pterygium of the conjunctiva and cornea? The Human Phenotype Ontology provides the following list of signs and symptoms for Pterygium of the conjunctiva and cornea. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | Pterygium of the conjunctiva and cornea |
What is (are) Behr syndrome ? | Behr syndrome is a disorder mainly characterized by early-onset optic atrophy, ataxia, and spasticity. Other signs and symptoms may be present and vary from person to person. Although the exact cause is unknown, the syndrome is believed to be genetic and inherited in an autosomal recessive fashion, in most cases. Auto... | Behr syndrome |
What are the symptoms of Behr syndrome ? | What are the signs and symptoms of Behr syndrome? People with Behr syndrome typically have visual disturbances (e.g. optic atrophy, nystagmus), ataxia, and spasticity. Other signs and symptoms that may be present in patients with Behr syndrome include intellectual disability, loss of bladder control, and variable pyram... | Behr syndrome |
What causes Behr syndrome ? | What causes Behr syndrome? The exact cause of Behr syndrome is not known; however, a genetic cause is suspected based on the families identified, thus far. | Behr syndrome |
What are the treatments for Behr syndrome ? | How might Behr syndrome be treated? Treatment is symptomatic. For instance, people who develop muscle contractures may have to undergo surgery. | Behr syndrome |
What are the symptoms of Kaufman oculocerebrofacial syndrome ? | What are the signs and symptoms of Kaufman oculocerebrofacial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kaufman oculocerebrofacial syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | Kaufman oculocerebrofacial syndrome |
What is (are) Tubular aggregate myopathy ? | Tubular aggregate myopathy is a very rare muscle disease where the presence of tubular aggregates represent the major, if not sole, pathologic change in the muscle cell. It is often characterized by muscle weakness or stiffness, cramps, and exercise induced muscle fatigue. The exact cause of the condition is unknown. ... | Tubular aggregate myopathy |
What are the symptoms of Tubular aggregate myopathy ? | What are the signs and symptoms of Tubular aggregate myopathy? In general, many people with tubular aggregate myopathy have muscle weakness, muscle cramps, and exercise induced fatigue. Typically the facial muscles are not affected in tubular aggregate myopathy. The Human Phenotype Ontology provides the following list ... | Tubular aggregate myopathy |
What causes Tubular aggregate myopathy ? | What causes tubular aggregate myopathy? Currently, the underlying cause of tubular aggregate myopathy is not known. Some cases appear to be due to dominant mutations in the STIM1 gene. | Tubular aggregate myopathy |
Is Tubular aggregate myopathy inherited ? | Is tubular aggregate myopathy genetic? It is evident from family history studies that the condition can be passed through families in either an autosomal dominant or autosomal recessive fashion. Some cases appear to be due to dominant mutations in the STIM1 gene. Sporadic cases of tubular aggregate myopathy have also b... | Tubular aggregate myopathy |
What are the treatments for Tubular aggregate myopathy ? | How might tubular aggregate myopathy be treated? | Tubular aggregate myopathy |
What is (are) Ehlers-Danlos syndrome, dermatosparaxis type ? | Ehlers-Danlos syndrome (EDS), dermatosparaxis type is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include soft, doughy skin that is extremely fragile; saggy, redundant skin, especially on the face; hernias; and mild to severe joint hypermobility. EDS, ... | Ehlers-Danlos syndrome, dermatosparaxis type |
What are the symptoms of Ehlers-Danlos syndrome, dermatosparaxis type ? | What are the signs and symptoms of Ehlers-Danlos syndrome, dermatosparaxis type? The signs and symptoms of Ehlers-Danlos syndrome (EDS), dermatosparaxis type vary but may include: Soft, doughy skin that is extremely fragile Severe bruising and scarring Saggy, redundant skin, especially on the face Hernias Short stature... | Ehlers-Danlos syndrome, dermatosparaxis type |
What causes Ehlers-Danlos syndrome, dermatosparaxis type ? | What causes Ehlers-Danlos syndrome, dermatosparaxis type? Ehlers-Danlos syndrome (EDS), dermatosparaxis type is caused by changes (mutations) in the ADAMTS2 gene. This gene encodes an enzyme that helps process several types of "procollagen molecules" (precursors of collagen). Collagen is a protein that provides structu... | Ehlers-Danlos syndrome, dermatosparaxis type |
Is Ehlers-Danlos syndrome, dermatosparaxis type inherited ? | Is Ehlers-Danlos syndrome, dermatosparaxis type inherited? Ehlers-Danlos syndrome, dermatosparaxis type is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry o... | Ehlers-Danlos syndrome, dermatosparaxis type |
How to diagnose Ehlers-Danlos syndrome, dermatosparaxis type ? | How is Ehlers-Danlos syndrome, dermatosparaxis type diagnosed? A diagnosis of Ehlers-Danlos syndrome (EDS), dermatosparaxis type is typically based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in the ADAMTS2 gene and/or a skin biopsy can then be ordered to confirm the di... | Ehlers-Danlos syndrome, dermatosparaxis type |
What are the treatments for Ehlers-Danlos syndrome, dermatosparaxis type ? | How might Ehlers-Danlos syndrome, dermatosparaxis type be treated? The treatment of Ehlers-Danlos syndrome (EDS), dermatosparaxis type is focused on preventing serious complications and relieving associated signs and symptoms. For example, physical therapy may be recommended in children with moderate to severe joint hy... | Ehlers-Danlos syndrome, dermatosparaxis type |
What are the symptoms of Microphthalmia syndromic 7 ? | What are the signs and symptoms of Microphthalmia syndromic 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 7. 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... | Microphthalmia syndromic 7 |
What is (are) Growth hormone deficiency ? | Growth hormone deficiency is characterized by abnormally short height due to lack (or shortage) of growth hormone. It can be congenital (present at birth) or acquired. Most of the time, no single clear cause can be identified. Most cases are identified in children. Although it is uncommon, growth hormone deficiency may... | Growth hormone deficiency |
What are the symptoms of Arthrogryposis like disorder ? | What are the signs and 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 Medline... | Arthrogryposis like disorder |
What are the symptoms of Martsolf syndrome ? | What are the signs and symptoms of Martsolf syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Martsolf syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionar... | Martsolf syndrome |
What is (are) Spondylospinal thoracic dysostosis ? | Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized by a short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the... | Spondylospinal thoracic dysostosis |
What are the symptoms of Spondylospinal thoracic dysostosis ? | What are the signs and symptoms of Spondylospinal thoracic dysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylospinal thoracic dysostosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | Spondylospinal thoracic dysostosis |
What are the symptoms of Nievergelt syndrome ? | What are the signs and symptoms of Nievergelt syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nievergelt 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... | Nievergelt syndrome |
What is (are) Mucopolysaccharidosis type IIIC ? | Mucopolysaccharidosis type IIIC (MPS IIIC) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. Affected individuals can... | Mucopolysaccharidosis type IIIC |
What are the symptoms of Mucopolysaccharidosis type IIIC ? | What are the signs and symptoms of Mucopolysaccharidosis type IIIC? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IIIC. 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... | Mucopolysaccharidosis type IIIC |
What are the symptoms of Vitreoretinochoroidopathy dominant ? | What are the signs and symptoms of Vitreoretinochoroidopathy dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Vitreoretinochoroidopathy dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | Vitreoretinochoroidopathy dominant |
What are the symptoms of Spondyloepiphyseal dysplasia ? | What are the signs and symptoms of Spondyloepiphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepiphyseal 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 Medline... | Spondyloepiphyseal dysplasia |
What is (are) Thanatophoric dysplasia ? | Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes. Most infants w... | Thanatophoric dysplasia |
What are the symptoms of Thanatophoric dysplasia ? | What are the signs and symptoms of Thanatophoric dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Thanatophoric 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 Medic... | Thanatophoric dysplasia |
What causes Thanatophoric dysplasia ? | What causes thanatophoric dysplasia? Thanatophoric dysplasia 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. Mutations in this gene cause the FGFR3 protein to be overly active, which leads to the... | Thanatophoric dysplasia |
Is Thanatophoric dysplasia inherited ? | Is thanatophoric dysplasia inherited? Thanatophoric dysplasia is considered an autosomal dominant disorder because one mutated copy of the FGFR3 gene in each cell causes the condition. However, almost all cases of thanatophoric dysplasia are caused by new mutations in the FGFR3 gene and occur in people with no history ... | Thanatophoric dysplasia |
What is (are) Hemolytic uremic syndrome, atypical, childhood ? | Hemolytic uremic syndrome, atypical, childhood is a disease that causes abnormal blood clots to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow, including hemolytic anemia, thrombocytopenia, and kidney failure. It is often caused by a combi... | Hemolytic uremic syndrome, atypical, childhood |
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... | Bednar tumor |
What is (are) Juvenile osteoporosis ? | Juvenile osteoporosis is a condition of bone demineralization characterized by pain in the back and extremities, multiple fractures, difficulty walking, and evidence of osteoporosis. Symptoms typically develop just before puberty. Osteoporosis is rare in children and adolescents. When it does occur, it is usually cause... | Juvenile osteoporosis |
What are the symptoms of Juvenile osteoporosis ? | What are the signs and symptoms of Juvenile osteoporosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile osteoporosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical D... | Juvenile osteoporosis |
What is (are) Hydrocephalus due to congenital stenosis of aqueduct of sylvius ? | Hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is a form of L1 syndrome, which is an inherited disorder that primarily affects the nervous system. Males with HSAS are typically born with severe hydrocephalus and adducted thumbs (bent towards the palm). Other sign and symptoms of the condition in... | Hydrocephalus due to congenital stenosis of aqueduct of sylvius |
What are the symptoms of Hydrocephalus due to congenital stenosis of aqueduct of sylvius ? | What are the signs and symptoms of Hydrocephalus due to congenital stenosis of aqueduct of sylvius? Males with hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) are typically born with severe hydrocephalus and adducted thumbs (bent towards the palm). Other signs and symptoms may include: Seizures S... | Hydrocephalus due to congenital stenosis of aqueduct of sylvius |
Is Hydrocephalus due to congenital stenosis of aqueduct of sylvius inherited ? | Is hydrocephalus due to congenital stenosis of aqueduct of sylvius inherited? Hydrocephalus due to congenital stenosis of aqueduct of sylvius is inherited in an X-linked recessive manner. A condition is X-linked if the responsible gene is located on the X chromosome. The X chromosome is one of the two sex chromosomes (... | Hydrocephalus due to congenital stenosis of aqueduct of sylvius |
How to diagnose Hydrocephalus due to congenital stenosis of aqueduct of sylvius ? | How is hydrocephalus due to congenital stenosis of aqueduct of sylvius diagnosed? A diagnosis of hydrocephalus due to congenital stenosis of aqueduct of sylvius is typically suspected based on the presence of characteristic signs and symptoms on physical examination and/or brain imaging (i.e. CT scan, MRI scan). Identi... | Hydrocephalus due to congenital stenosis of aqueduct of sylvius |
What are the treatments for Hydrocephalus due to congenital stenosis of aqueduct of sylvius ? | How might hydrocephalus due to congenital stenosis of aqueduct of sylvius be treated? The treatment of hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is based on the signs and symptoms present in each person. For example, hydrocephalus is typically treated with shunt surgery. Special education a... | Hydrocephalus due to congenital stenosis of aqueduct of sylvius |
What are the symptoms of Mental retardation X-linked, South African type ? | What are the signs and symptoms of Mental retardation X-linked, South African type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation X-linked, South African type. If the information is available, the table below includes how often the symptom is seen in people with t... | Mental retardation X-linked, South African type |
What is (are) Apocrine carcinoma ? | Apocrine carcinoma is a cancer of a sweat gland. Apocrine carcionoma most often develops under the arm (the axilla), but it can develop on the scalp or other parts of the body. The cause of apocrine carcinoma is unknown. Apocrine carcinoma usually appears as a single, small, painless bump (nodule) that can vary in c... | Apocrine carcinoma |
What is (are) Serpiginous choroiditis ? | Serpiginous choroiditis is a rare inflammatory eye condition that typically develops between age 30 and 70 years. Affected individuals have lesions in the eye that last from weeks to months and involve scarring of the eye tissue. Recurrence of these lesions is common in serpiginous choroiditis. Vision loss may occur in... | Serpiginous choroiditis |
What causes Serpiginous choroiditis ? | What causes serpiginous choroiditis? The cause of serpiginous choroiditis is unknown. Speculation exists regarding an association with exposure to various toxic compounds and/or infectious agents. Some researchers believe the condition is related to an organ-specific autoimmune inflammatory process. | Serpiginous choroiditis |
Is Serpiginous choroiditis inherited ? | Can I inherit serpiginous choroiditis if my mother has the condition? No familial predillection or propensity has been described. | Serpiginous choroiditis |
What are the treatments for Serpiginous choroiditis ? | Is there any treatment for serpiginous choroiditis? There are a few treatment options for individuals with serpiginous choroiditis. Treatment may involve an anti-inflammatory medication, such as prednisone, or an immune system suppressing combination of prednisone, cyclosporine, and azathioprine. Additionally, the role... | Serpiginous choroiditis |
What is (are) Zellweger spectrum ? | Zellweger spectrum refers to a group of related conditions that have overlapping signs and symptoms and affect many parts of the body. The spectrum includes Zellweger syndrome (ZS), the most severe form; neonatal adrenoleukodystrophy (NALD), an intermediate form; and infantile Refsum disease (IRD), the least severe for... | Zellweger spectrum |
What are the symptoms of Lopes Gorlin syndrome ? | What are the signs and symptoms of Lopes Gorlin syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lopes Gorlin 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... | Lopes Gorlin syndrome |
What are the symptoms of N syndrome ? | What are the signs and symptoms of N syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for N 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 t... | N syndrome |
What are the symptoms of Encephalomyopathy ? | What are the signs and symptoms of Encephalomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Encephalomyopathy. 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... | Encephalomyopathy |
What are the symptoms of Abruzzo Erickson syndrome ? | What are the signs and symptoms of Abruzzo Erickson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Abruzzo Erickson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus M... | Abruzzo Erickson syndrome |
What is (are) Ellis-Van Creveld syndrome ? | Ellis-Van Creveld syndrome is an inherited condition that affects bone growth. Affected people generally have short stature; short arms and legs (especially the forearm and lower leg); and a narrow chest with short ribs. Other signs and symptoms may include polydactyly; missing and/or malformed nails; dental abnormalit... | Ellis-Van Creveld syndrome |
What are the symptoms of Ellis-Van Creveld syndrome ? | What are the signs and symptoms of Ellis-Van Creveld syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ellis-Van Creveld 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... | Ellis-Van Creveld syndrome |
What is (are) Congenital short femur ? | Congenital short femur is a rare type of skeletal dysplasia, a complex group of bone and cartilage disorders that affect the skeleton of a fetus as it develops during pregnancy. Congenital short femur can vary in severity, ranging from hypoplasia (underdevelopment) of the femur to absence of the femur. With modern surg... | Congenital short femur |
What is (are) Hypertrichosis lanuginosa congenita ? | Hypertrichosis lanuginosa congenita is a congenital (present from birth) skin disease characterized by excessive lanugo (very fine, soft, unpigmented) hair covering the entire body, with the exception of the palms, soles, and mucous membranes. The hair can grow to be 3 to 5 cm in length. This condition appears to follo... | Hypertrichosis lanuginosa congenita |
What are the symptoms of Hypertrichosis lanuginosa congenita ? | What are the signs and symptoms of Hypertrichosis lanuginosa congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrichosis lanuginosa congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | Hypertrichosis lanuginosa congenita |
What is (are) Cowden syndrome ? | Cowden syndrome is an inherited condition that is characterized primarily by multiple, noncancerous growths (called hamartomas) on various parts of the body. It is considered part of the PTEN Hamartoma Tumor Syndrome spectrum which also includes Bannayan-Riley-Ruvalcaba syndrome and Proteus syndrome. People affected by... | Cowden syndrome |
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