data stringlengths 25 1.5k |
|---|
The thymus is a small organ in your upper chest, under your breastbone. Before birth and during childhood, the thymus helps the body make a type of white blood cell. These cells help protect you from infections. Cancer of the thymus is rare. You are more likely to get it if you have other diseases such as myastheni... |
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, ... |
Kaposi sarcoma (KS) is a cancer that develops from the cells that line lymph or blood vessels. It usually appears as tumors on the skin or on mucosal surfaces such as inside the mouth, but tumors can also develop in other parts of the body (including the lymph nodes, lungs, or digestive tract). The abnormal cells of Ka... |
McCune-Albright syndrome (MAS) is a disease that affects the bones, skin, and several hormone-producing (endocrine) tissues. It is characterized by replacement of normal bone tissue with areas of abnormal fibrous growth (fibrous dysplasia); patches of abnormal skin coloring with jagged borders (cafe-au-lait spots); and... |
Mutations in the PCNT gene cause MOPDII. The PCNT gene provides instructions for making a protein called pericentrin. Within cells, this protein is located in structures called centrosomes. Centrosomes play a role in cell division and the assembly of microtubules. Microtubules are fibers that help cells maintain their ... |
- Kidney failure means your kidneys no longer filter your blood well enough to keep you healthy. - The treatments for kidney failure are - hemodialysis - peritoneal dialysis - a kidney transplant - conservative management - Hemodialysis uses a machine to filter your blood when your kidneys are too sic... |
Adams-Oliver syndrome can have different inheritance patterns. When caused by mutations in the ARHGAP31, DLL4, NOTCH1, or RBPJ gene, the condition is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. The a... |
What causes Chilaiditi syndrome? The exact cause of Chilaiditi syndrome is unknown. The condition appears to occur with higher frequency among individuals with chronic lung disease, scarring of the liver (cirrhosis), and in those with an accumulation of ascites in the abdomen. Other risk factors may include reduced liv... |
The long-term outlook for a child with kidney dysplasia in only one kidney is generally good. A person with one working kidney, a condition called solitary kidney, can grow normally and may have few, if any, health problems.
The affected kidney may shrink as the child grows. By age 10,3 the affected ki... |
What are the signs and symptoms of Transcobalamin 1 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Transcobalamin 1 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 MedlinePl... |
Addiction is a chronic disease in which a person craves, seeks, and continues to abuse a legal (medication, alcohol, tobacco) or an illicit (illegal) drug, despite harmful consequences. People who are addicted continue to abuse the substance even though it can harm their physical or mental health, lead to accidents, or... |
This condition 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. |
How might Stevens-Johnson syndrome be treated? Stevens-Johnson syndrome may be difficult to treat.[2147] Patients should be admitted to an intensive care or burn unit as soon as the diagnosis is suspected.[2145][2147] Treatment of severe symptoms may include:[2147] Antibiotics to control any skin infections Corticoster... |
Anyone experiencing symptoms of meningitis or encephalitis should see a doctor immediately. Antibiotics for most types of meningitis can greatly reduce the risk of dying from the disease. Antiviral medications may be prescribed for viral encephalitis or other severe viral infections.Anticonvulsants are used to prevent ... |
Age-related macular degeneration, also known as AMD, is an eye disease that affects the macula, a part of the retina. The retina sends light from the eye to the brain, and the macula allows you to see fine detail. AMD Blurs Central Vision AMD blurs the sharp central vision you need for straight-ahead activities such as... |
Treatment for multifocal motor neuropathy varies. Some individuals experience only mild, modest symptoms and require no treatment. For others, treatment generally consists of intravenous immunoglobulin (IVIg) or immunosuppressive therapy with cyclophosphamide. |
This condition 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. |
The NINDS supports and conducts a wide range of studies that focus on identifying and learning more about the factors involved in normal brain development. Recent research has identified specific genes that cause holoprosencephaly. The knowledge gained from these fundamental studies provides the foundation for understa... |
Although researchers have studied many treatments, none has been shown to cure or slow the progress of PSC. Treatment of PSC aims to relieve symptoms and manage complications. Medical treatment may include various medications to relieve itching, antibiotics to treat infections, and vitamin supplements. Instruments pass... |
Having psoriasis may cause you to feel self-conscious, particularly if it affects a part of the body that others can see. Some people plan their clothing such as long skirts vs. knee-length or long-sleeve instead of short-sleeve shirts to hide affected skin. Others withdraw from sports and other activities where affe... |
Botulism is a rare but serious paralytic illness caused by a nerve toxin that is produced by the bacterium Clostridium botulinum and sometimes by strains of Clostridium butyricum and Clostridium baratii. There are five main kinds of botulism. Foodborne botulism is caused by eating foods that contain the botulinum toxin... |
What causes MYH7-related scapuloperoneal myopathy? MYH7-related scapuloperoneal myopathy is caused by mutations in the MYH7 gene. This gene, located on chromosome 14q12, provides instructions for making a protein known as the cardiac beta ()-myosin heavy chain. This protein is found in heart (cardiac) muscle and in typ... |
About 75 percent of people will have hemorrhoids at some point in their lives.1 Hemorrhoids are most common among adults ages 45 to 65.2 Hemorrhoids are also common in pregnant women. |
These resources address the diagnosis or management of Char syndrome: - Gene Review: Gene Review: Char Syndrome - Genetic Testing Registry: Char syndrome - MedlinePlus Encyclopedia: Patent Ductus Arteriosus These resources from MedlinePlus offer information about the diagnosis and management of various health cond... |
Pearson marrow-pancreas syndrome is caused by defects in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. This process is called oxidative phosphorylation. Although most DNA is packaged in chromosomes within the nucleus (nuclear DNA), mitochondri... |
Penicillin, an antibiotic, is used to treat syphilis. Individuals with neurosyphilis can be treated with penicillin given by vein, or by daily intramuscular injections for 10 14 days. If they are treated with daily penicillin injections, individuals must also take probenecid by mouth four times a day. Some medical pro... |
Signs and symptoms of small cell lung cancer include coughing, shortness of breath, and chest pain. These and other signs and symptoms may be caused by small cell lung cancer or by other conditions. Check with your doctor if you have any of the following: - Chest discomfort or pain. - A cough that doesnt go ... |
How is HEM diagnosed? Establishing a diagnosis of HEM prenatally can be difficult and may require the interaction between a perinatologist, geneticist, and fetal/neonatal pathologist. Clinical examination, radiographs, genetic testing, and autopsy may be performed in order to establish a diagnosis of HEM. |
Immune thrombocytopenia (ITP) is a fairly common blood disorder. Both children and adults can develop ITP.
Children usually have the acute (short-term) type of ITP. Acute ITP often develops after a viral infection.
Adults tend to have the chronic (long-lasting) type of ITP. Women are t... |
The NINDS supports research on neuromuscular disorders such as KSS. The goals of this research are to increase understanding of these disorders, and to find ways to prevent, treat, and, ultimately, cure them. The most promising approach for treatment in the future will be to alter replication or destroy abnormal mitoch... |
These resources address the diagnosis or management of Kallmann syndrome: - Gene Review: Gene Review: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency - Genetic Testing Registry: Hypogonadism with anosmia - Genetic Testing Registry: Kallmann syndrome 1 - Genetic Testing Registry: Kallmann syndrome 2 - Gen... |
These resources address the diagnosis or management of GRN-related frontotemporal dementia: - Family Caregiver Alliance - Gene Review: Gene Review: GRN-Related Frontotemporal Dementia - Genetic Testing Registry: Frontotemporal dementia, ubiquitin-positive These resources from MedlinePlus offer information about th... |
MEGDEL syndrome is a rare disorder; its prevalence is unknown. At least 40 affected individuals have been mentioned in the medical literature. |
Danon disease is a type of lysosomal storage disorder. Lysosomes are compartments within the cell that use enzymes to break down large molecules into smaller ones that the cell can use. In Danon disease there is a defect in the wall (membrane) of the lysosome. The defect is caused by mutations in the LAMP2 gene. Danon ... |
This condition is very rare; it probably affects 200 to 300 people worldwide. Reported estimates of Costello syndrome prevalence range from 1 in 300,000 to 1 in 1.25 million people. |
How is alpha-thalassemia inherited? The inheritance of alpha-thalassemia is complex because the condition involves two genes: HBA1 and HBA2. People have two copies of the HBA1 gene and two copies of the HBA2 gene in each cell. Each copy is called an allele. Therefore, there are 4 alleles that produce alpha-globin, the ... |
HAM/TSP is a progressive disease, but it is rarely fatal. Most individuals live for several decades after the diagnosis. Their prognosis improves if they take steps to prevent urinary tract infection and skin sores, and if they participate in physical and occupational therapy programs. |
How is Camurati-Engelmann disease inherited? Camurati-Engelmann disease is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene... |
Researchers do not know how to prevent Peyronies disease. |
These resources address the diagnosis or management of white sponge nevus: - Genetic Testing Registry: White sponge nevus of cannon These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - ... |
Abdominal wall defects are uncommon. Omphalocele affects an estimated 2 to 2.5 in 10,000 newborns. Approximately 2 to 6 in 10,000 newborns are affected by gastroschisis, although researchers have observed that this malformation is becoming more common. Abdominal wall defects are more common among pregnancies that do no... |
2,4-Dienoyl-CoA reductase deficiency is associated with hypotonia and respiratory acidosis in infancy. This condition may be associated with the DECR1 gene and likely has an autosomal recessive pattern of inheritance. |
What causes Stevens-Johnson syndrome? The exact cause of Stevens-Johnson syndrome is unknown in 25 to 30% of cases. In those cases in which the cause can be determined, it is believed to be related to an adverse allergic drug reaction. Almost any drug--but most particularly sulfa drugs--can cause Stevens-Johnson syndro... |
This condition is very rare; it is reported to occur in 1 in 4 million newborns worldwide. More than 130 cases have been reported in the scientific literature since the condition was first described in 1886. |
Microphthalmia with linear skin defects syndrome is a disorder that mainly affects females. In people with this condition, one or both eyes may be very small or poorly developed (microphthalmia). Affected individuals also typically have unusual linear skin markings on the head and neck. These markings follow the paths ... |
COPD (chronic obstructive pulmonary disease) makes it hard for you to breathe. The two main types are chronic bronchitis and emphysema. The main cause of COPD is long-term exposure to substances that irritate and damage the lungs. This is usually cigarette smoke. Air pollution, chemical fumes, or dust can also cause it... |
What are the signs and symptoms of Nystagmus 3, congenital, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Nystagmus 3, congenital, autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this cond... |
When hereditary pancreatitis is caused by mutations in the PRSS1 gene, it is inherited in an autosomal dominant pattern, 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 PRSS1 gene mutation from one affected parent. Other cases res... |
Neonatal onset multisystem inflammatory disease (NOMID) is a disorder that causes persistent inflammation and tissue damage primarily affecting the nervous system, skin, and joints. Recurrent episodes of mild fever may also occur in this disorder. People with NOMID have a skin rash that is usually present from birth. ... |
The Centers for Disease Control and Prevention (CDC) monitors the frequency of Y. enterocolitica infections through the foodborne disease active surveillance network (FoodNet). In addition, CDC conducts investigations of outbreaks of yersiniosis to control them and to learn more about how to prevent these infections. C... |
These resources address the diagnosis or management of Shprintzen-Goldberg syndrome: - Gene Review: Gene Review: Shprintzen-Goldberg Syndrome - Genetic Testing Registry: Shprintzen-Goldberg syndrome - Johns Hopkins Medicine: Diagnosis of Craniosynostosis - MedlinePlus Encyclopedia: Craniosynostosis These resource... |
What are the signs and symptoms of Cataract anterior polar dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract anterior polar dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... |
Early and accurate diagnosis is key to prolonged survival for boys born with Barth syndrome. The disorder was once considered uniformly fatal in infancy, but some individuals are now living much longer. Severe infections and cardiac failure are common causes of death in affected children. |
Shingles (herpes zoster) is an outbreak of rash or blisters on the skin that is caused by the same virus that causes chickenpox the varicella-zoster virus. The first sign of shingles is often burning or tingling pain (which can be severe), or sometimes numbness or itch,generally on one side of the body. After several ... |
Myasthenia gravis is a chronic autoimmune neuromuscular disease characterized by varying degrees of weakness of the skeletal (voluntary) muscles of the body. Symptoms vary in type and intensity. The hallmark of myasthenia gravis is muscle weakness that increases during periods of activity and improves after periods of ... |
Epidermolysis bullosa simplex, generalized is a form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and blister easily. This disorder usually presents at birth or during infancy and results in widespread blisters over the body's surface. Though it is not a common feature of th... |
These resources address the diagnosis or management of amyotrophic lateral sclerosis: - Gene Review: Gene Review: ALS2-Related Disorders - Gene Review: Gene Review: Amyotrophic Lateral Sclerosis Overview - Gene Review: Gene Review: C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia - Gene Rev... |
How might lupus be treated? For information on the treatment of lupus, you can read the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) publication called Handout on Health: Systemic Lupus Erythematosus. NIAMS is the primary NIH organization for research and information on lupus. |
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 ... |
What are the signs and symptoms of Congenital bilateral absence of the vas deferens? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital bilateral absence of the vas deferens. If the information is available, the table below includes how often the symptom is seen in people with... |
Eosinophils are a type of white blood cell. They help fight off infections and play a role in your body's immune response. They can also build up and cause inflammation. Normally your blood doesn't have a large number of eosinophils. Your body may produce more of them in response to - Allergic disorders - S... |
This condition 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. |
How are chronic hiccups diagnosed? A diagnosis of chronic hiccups is usually obvious based on symptoms. However, a complete physical exam with various laboratory tests and imaging studies (i.e. chest X-ray, CT scan, MRI scan, and/or fluoroscopy of the diaphragm) may be performed to determine the underlying cause. For m... |
Susceptibility to familial cylindromatosis has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder. |
How might fatal familial insomnia be treated? There is currently no cure for fatal familial insomnia or treatment that can slow the disease progression. Management is based on alleviating symptoms and making affected people as comfortable as possible. A number of potential therapies are under current development, some ... |
46,XX testicular disorder of sex development is a condition in which a person with two X chromosomes (which is normally found in females) has a male appearance. More specifically, people with this condition have male external genitalia, ranging from normal to ambiguous. Other common signs and symptoms include small tes... |
What testing is available to identify unaffected carriers of pseudoxanthoma elasticum? When considering carrier testing for unaffected relatives of individuals with pseudoxanthoma elasticum (PXE), it is most useful to begin by testing an affected family member for mutations in the ABCC6 gene. Eighty percent of individ... |
Patulous eustachian tube is a benign condition in which the eustachian tube stays open most of the time. The eustachian tube is the tube that runs between the middle ear and throat and regulates the ear pressure around the ear drum. Under normal circumstances, it remains closed most of the time, opening only on occasio... |
Interstitial cystitis (IC) is a condition that causes discomfort or pain in the bladder and abdomen. Symptoms may vary, but often include an urgent or frequent need to urinate. Many of the individuals affected by IC are women. Because IC varies so much in symptoms and severity, most researchers believe it is not one, b... |
Summary : An ostomy is surgery to create an opening (stoma) from an area inside the body to the outside. It treats certain diseases of the digestive or urinary systems. It can be permanent, when an organ must be removed. It can be temporary, when the organ needs time to heal. The organ could be the small intestine, col... |
The prognosis for individuals with schizencephaly varies depending on the size of the clefts and the extent of neurological disabilities. |
What are the signs and symptoms of Hepatic lipase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatic lipase 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 M... |
The NINDS supports and conducts research on neurogenetic disorders such as Fahr's Syndrome. The goals of this research are to locate and understand the actions of the genes involved in this disorder. Finding these genes could lead to effective ways to treat and prevent Fahr's Syndrome. |
Summary : A lung transplant removes a person's diseased lung and replaces it with a healthy one. The healthy lung comes from a donor who has died. Some people get one lung during a transplant. Other people get two. Lung transplants are used for people who are likely to die from lung disease within 1 to 2 years. Thei... |
Signs of intraocular melanoma include blurred vision or a dark spot on the iris. Intraocular melanoma may not cause early signs or symptoms. It is sometimes found during a regular eye exam when the doctor dilates the pupil and looks into the eye. Signs and symptoms may be caused by intraocular melanoma or by other cond... |
These resources address the diagnosis or management of SOX2 anophthalmia syndrome: - Gene Review: Gene Review: SOX2-Related Eye Disorders - Genetic Testing Registry: Microphthalmia syndromic 3 - MedlinePlus Encyclopedia: Vision Problems These resources from MedlinePlus offer information about the diagnosis and man... |
Shingles is caused by a virus called the varicella-zoster virus -- the one that gave you chickenpox when you were a child. As you recovered from chickenpox, the sores and other symptoms healed, but the virus remained. It is with you for life. Researchers know that the varicella-zoster virus behaves differently from oth... |
Is Binswanger's disease an inherited condition? Although Binswanger's disease is not considered an inherited condition, genetics may play a role in many of the conditions and risk factors that are associated with the disease (i.e. atherosclerosis, blood clots). |
Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids. The disease is also called alpha-galactosidase-A deficiency. A mutation in the gene that controls this enzyme causes insufficient breakdown of lipids, which build up to har... |
How might schizencephaly be treated? The best treatment options for people with schizencephaly depend on many factors, including the severity of the condition and the signs and symptoms present. For example, people with developmental delay (i.e. delayed motor milestones) or partial paralysis may be referred for physica... |
The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to hydromyelia in its clinics and laboratories at The National Institutes of Health (NIH) and supports additional research through grants to major research institutions across the country. Much of this research focuses on find... |
Summary : Not all medicines are safe to take when you are pregnant. Some medicines can harm your baby. That includes over-the-counter or prescription drugs, herbs, and supplements. Always speak with your health care provider before you start or stop any medicine. Not using medicine that you need may be more harmful ... |
Ring chromosome 20 syndrome is almost never inherited. A ring chromosome typically occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early embryonic development. Often, the ring chromosome is present in only some of a person's cells. This situation is known as mosaicism. Most af... |
How is Best vitelliform macular dystrophy diagnosed? Best vitelliform macular dystrophy (BVMD) may be diagnosed based on the findings on an exam of the fundus (the interior surface of the eye opposite the lens); an electrooculogram (EOG); and the family history. An eye exam may include other tests as well. A fundus exa... |
If you are having a heart attack, doctors will work quickly to restore blood flow to the heart and continuously monitor vital signs to detect and treat complications. Restoring blood flow to the heart can prevent or limit damage to the heart muscle and help prevent another heart attack. Doctors may use clot-busting dru... |
What are the signs and symptoms of Lymphocytic infiltrate of Jessner? The Human Phenotype Ontology provides the following list of signs and symptoms for Lymphocytic infiltrate of Jessner. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... |
What are the signs and symptoms of Radio-ulnar synostosis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Radio-ulnar synostosis 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 Medli... |
Monkeypox is a rare viral disease. It occurs mostly in central and western Africa. Wild rodents and squirrels carry it, but it is called monkeypox because scientists saw it first in lab monkeys. In 2003, it was reported in prairie dogs and humans in the U.S. Centers for Disease Control and Prevention |
How might Stenotrophomonas maltophilia infection be treated? Stenotrophomonas maltophilia (S. maltophilia) bacteria are usually resistant to many antibiotics. The recommended therapy is trimethoprim-sulfamethoxazole (also called co-trimoxazole, or TMP-SMX). If this medication can not be used, a variety of other antibio... |
These resources address the diagnosis or management of alkaptonuria: - Gene Review: Gene Review: Alkaptonuria - Genetic Testing Registry: Alkaptonuria - MedlinePlus Encyclopedia: Alkaptonuria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diag... |
Familial HDL deficiency is a rare disorder, although the prevalence is unknown. |
This condition 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. |
In women, high levels of prolactin in the blood often cause infertility and changes in menstruation. In some women, periods may stop. In others, periods may become irregular or menstrual flow may change. Women who are not pregnant or nursing may begin producing breast milk. Some women may experience a loss of libido-in... |
These resources address the diagnosis or management of intranuclear rod myopathy: - Genetic Testing Registry: Nemaline myopathy 3 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Ge... |
The causes of benign essential blepharospasm are unknown, although the disorder likely results from a combination of genetic and environmental factors. Certain genetic changes probably increase the likelihood of developing this condition, and environmental factors may trigger the signs and symptoms in people who are at... |
Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder ... |
Pseudopseudohypoparathyroidism (PPHP) is an inherited condition that causes short stature, round face, and short hand bones. PPHP causes joints and other soft tissues in the body to harden. It also affects how bones are formed. As a result, PPHP can cause bone, joint, and nerve damage, and this damage can cause lasting... |
Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Argininosuccinic aciduria usually b... |
Autosomal recessive Robinow syndrome results from mutations in the ROR2 gene. This gene provides instructions for making a protein whose function is not well understood, although it is involved in chemical signaling pathways that are essential for normal development before birth. In particular, the ROR2 protein appears... |
When Wolfram syndrome is caused by mutations in the WFS1 gene, it 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 si... |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.