A severe neurological disorder that typically begins in infancy or early childhood, characterized by progressive loss of motor and cognitive abilities.
A tumor that develops in the adrenal glands and produces excessive amounts of adrenaline and noradrenaline hormones.
Conditions that affect the valves of the heart, causing them to not function properly.
A rare condition where the bone marrow fails to produce enough new blood cells.
An eating disorder characterized by an intense fear of gaining weight, leading to severe restriction of food intake and a distorted body image.
A mental health disorder characterized by recurring, unwanted thoughts (obsessions) and repetitive behaviors (compulsions) that individuals feel compelled to perform to alleviate anxiety or distress.
Condition characterized by low bone density and increased risk of fractures.
Refers to bladder cancer that has returned after treatment or a period of remission.
An inflammatory arthritis that primarily affects the spine, causing pain and stiffness in the back and neck.
Rapid onset of sensorineural hearing loss, often occurring within a few days and of unknown cause.
A genetic subtype of hypertrophic cardiomyopathy, a condition where the heart muscle becomes abnormally thickened.
A type of depression that occurs during specific seasons, typically during the winter months, and is characterized by low mood, lack of energy, and increased sleepiness.
A chronic autoimmune skin disorder characterized by the presence of red, scaly patches on the skin.
Hearing loss that is present at birth and can be caused by genetic factors or prenatal conditions.
Sc severe combined immunodeficiency (scid)
Sc severe combined immunodeficiency (scid) is a subcategory of Combined immunodeficiency disorders. This category includes disorders where multiple components of the immune system are affected, leading to a severe impairment in immune function.
A condition involving the problematic use of cannabis, leading to impaired functioning and negative effects on various aspects of life.
Dermatitis that occurs due to poor circulation, often seen in the lower legs, resulting in swollen, itchy, and discolored skin.
Noncancerous growths that develop in the lining of the nasal passages or sinuses.
Viral hemorrhagic fevers are a group of rare and severe illnesses caused by several different viruses. These viruses can cause a wide range of symptoms, including fever, fatigue, dizziness, bleeding, and organ failure. They are often transmitted to humans through contact with infected animals or through the bites of infected mosquitoes or ticks.
High levels of fats (lipids) in the blood, including cholesterol and triglycerides.
A progressive neurodegenerative disorder that affects multiple systems in the body, including the immune system, leading to immunodeficiency and increased risk of infections.
The most common type of non-Hodgkin lymphoma, characterized by rapidly growing B-cells.
A condition in which the immune system mistakenly destroys platelets, resulting in low platelet counts and an increased risk of bleeding.
A group of genetic disorders that affect the adrenal glands, leading to a deficiency in certain hormones.
A common skin condition characterized by dark patches or discoloration on the face, often occurring during pregnancy or due to hormonal changes.
A group of genetic disorders that cause muscle weakness and wasting from birth or early infancy.
A genetic disorder that affects the blood's ability to clot properly, leading to excessive bleeding or prolonged bleeding time.
Heart conditions caused by high blood pressure.
Degenerative joint disease that occurs when the protective cartilage on the ends of bones wears down over time.
The most common and aggressive subtype of ovarian cancer.
This mitochondrial disease is characterized by muscle weakness and peripheral neuropathy, which is damage to the nerves outside of the brain and spinal cord.
Breast cancer that has spread to other parts of the body, such as the bones, liver, lungs, or brain.
This is a mitochondrial disease characterized by muscle weakness and ataxia, which is a lack of coordination and balance.
A type of pituitary tumor that causes excessive production of the hormone prolactin, leading to abnormal milk production and menstrual irregularities.
Polycystic ovarian disease is a condition characterized by the presence of multiple cysts on the ovaries, which can disrupt normal hormone production and lead to irregular menstrual cycles and fertility issues.
Dental diseases that are associated with or caused by underlying systemic conditions, such as diabetes or autoimmune disorders.
Rare brain cancers refer to less common types of cancers that specifically affect the brain, such as oligodendroglioma, pineal region tumor, and chordoma.
Autoimmune disorders that affect the nervous system, leading to inflammation and damage to nerve cells.
Clostridium difficile infection, also known as C. difficile or C. diff infection, is a bacterial infection that primarily affects the colon. It is often associated with antibiotic use and can cause symptoms ranging from mild diarrhea to severe inflammation of the colon.
Chronic progressive external ophthalmoplegia (cpeo)
CPEO is a mitochondrial disorder that primarily affects the muscles that control eye movement, leading to weakness and paralysis of these muscles.
A chronic form of depression that lasts for at least two years and is characterized by a depressed mood most of the time.
Ovarian cancers that develop from the connective tissue cells that support the ovaries.
A condition where the arteries that supply blood to the limbs become narrowed or blocked, leading to reduced blood flow.
A condition in which the thyroid gland does not produce enough thyroid hormones, leading to a slowed metabolism.
Infections that occur when bacteria or other pathogens enter the bloodstream, often through the use of invasive medical devices such as catheters or intravenous lines.
A rare X-linked disorder characterized by eczema, low platelet count, and immune system dysfunction.
Rare cancers that have spread from their original site to other parts of the body, often making them more difficult to treat.
A disorder characterized by the problematic use of stimulant drugs, such as amphetamines or cocaine, leading to increased energy, euphoria, and negative consequences on health and well-being.
People with this disorder have an internal body clock that is not synchronized with the 24-hour day-night cycle. As a result, their sleep-wake pattern gradually shifts later each day, leading to difficulties in maintaining a regular sleep schedule.
A pattern of frequent and rapid shifts between manic, depressive, or mixed episodes within a year.
Congenital stationary night blindness is a group of genetic disorders that affect the ability to see in low light conditions. It is characterized by difficulty seeing in the dark, reduced visual acuity, and impaired night vision.
Mitochondrial myopathy with ragged red fibers
This mitochondrial disease is characterized by muscle weakness and the presence of ragged red fibers in muscle tissue.
A chronic mental disorder characterized by distorted thinking, hallucinations, delusions, and a lack of motivation.
A specific type of dermatosis characterized by intensely itchy and blistering skin lesions, often associated with an autoimmune reaction to gluten.
Edwards syndrome, also known as trisomy 18, is a chromosomal disorder characterized by the presence of an extra copy of chromosome 18. It leads to multiple physical and developmental abnormalities.
Mitochondrial neurogastrointestinal encephalomyopathy (mngie)
MNGIE is a mitochondrial disease that affects multiple systems, including the nervous system, gastrointestinal system, and muscles. It can cause symptoms such as muscle weakness, gastrointestinal problems, and neurological abnormalities.
Ich albinism is a subcategory of Dermatological genetic diseases. Genetic disorders that primarily affect the skin, causing various skin abnormalities and conditions.
A group of genetic disorders that cause progressive degeneration of the cerebellum, resulting in problems with coordination, balance, and speech. Symptoms can vary widely depending on the specific type of spinocerebellar ataxia.
Structural abnormalities in the heart that are present at birth.
Fluid-filled sacs that form in the pituitary gland, which can cause hormonal imbalances or compress nearby structures.
A group of genetic disorders that cause tumors to form on nerve tissue.
Different approaches and modalities used to treat ovarian cancer, including surgery, chemotherapy, radiation therapy, targeted therapy, hormone therapy, and immunotherapy.
This refers to a type of mitochondrial disease that primarily affects the optic nerve, leading to vision loss or impairment.
PSP is a neurodegenerative disease characterized by the degeneration of nerve cells in certain areas of the brain, leading to difficulties with balance, coordination, eye movements, and cognitive function.
A chronic inflammatory skin condition that primarily affects the face, causing redness, flushing, and sometimes small, pus-filled bumps.
Mitochondrial myopathy with lactic acidosis
This mitochondrial disease is characterized by muscle weakness and the buildup of lactic acid in the body.
FTD is a group of disorders that primarily affect the frontal and temporal lobes of the brain, resulting in changes in behavior, personality, and language abilities.
A rash that typically affects the area around the mouth, causing redness, bumps, and sometimes scaling.
A condition characterized by sudden hair loss, often in patches.
A genetic disorder characterized by brittle bones that are prone to fractures.
These are a group of rare genetic disorders that affect the body's ability to remove ammonia, a waste product of protein metabolism. This can lead to a buildup of ammonia in the blood, causing neurological symptoms and other complications.
A type of lung cancer that begins in the flat cells lining the airways of the lungs. It is often linked to smoking and tends to be more centrally located in the lungs.
CBD is a neurodegenerative disorder characterized by the progressive degeneration of nerve cells in specific areas of the brain, leading to movement and cognitive impairments.
Commonly known as "pink eye," conjunctivitis is an inflammation of the conjunctiva, the thin membrane that covers the white part of the eye and the inner surface of the eyelids.
X severe combined immunodeficiency (scid)
A group of genetic disorders that result in a severe impairment of the immune system, leaving individuals highly susceptible to infections.
A rare genetic disorder characterized by the accumulation of cholesteryl esters in various tissues, leading to organ damage and dysfunction.
These are infections caused by parasites that can infect individuals with weakened immune systems, often leading to more severe or prolonged infections compared to individuals with a healthy immune system.
Mitochondrial myelopathy is a mitochondrial disease that affects the spinal cord, leading to weakness, numbness, and other neurological symptoms.
An eating disorder characterized by a cycle of binge eating followed by compensatory behaviors such as self-induced vomiting, excessive exercise, or the use of laxatives or diuretics to prevent weight gain.
Common variable immunodeficiency is a group of disorders characterized by low levels of antibodies and an increased susceptibility to infections.
Zoonotic infections that can be transmitted through contaminated food or water.
A complex developmental disorder that affects social interaction, communication, and behavior. It is typically diagnosed in early childhood and can vary widely in severity.
Conditions that affect the growth and development of bones, leading to abnormalities in bone structure and function.
A genetic disorder characterized by high levels of cholesterol in the blood, leading to an increased risk of cardiovascular disease.
This type of anemia is caused by a deficiency in certain vitamins, such as vitamin B12 or folate, which are necessary for the production of healthy red blood cells.
A genetic subtype of familial hypercholesterolemia, a condition characterized by high levels of cholesterol in the blood, leading to an increased risk of heart disease.
Refers to skin conditions characterized by the presence of lichenoid lesions, which are flat-topped papules or plaques with a distinct appearance.
A genetic disorder that causes red blood cells to become misshapen and break down, leading to anemia and other complications.
A rare inflammatory skin disorder characterized by the formation of vegetating lesions on the skin.
A genetic disorder that causes the progressive breakdown of nerve cells in the brain, leading to movement, cognitive, and psychiatric problems.
Major depressive disorder with psychotic features
This subcategory of depression involves the presence of psychotic symptoms, such as hallucinations (seeing or hearing things that are not there) or delusions (false beliefs). These symptoms are typically consistent with the depressive theme.
Refers to skin conditions characterized by the formation of pustules, which are small, pus-filled blisters on the skin.
Also called periodontal disease, it is an infection of the gums that can lead to inflammation, bleeding, and eventually tooth loss if left untreated.
A genetic disorder in females caused by the absence of all or part of one X chromosome, resulting in short stature, infertility, and various physical and developmental abnormalities.
Is hypertension is a subcategory of Cardiovascular diseases. Disorders that affect the heart and blood vessels, including conditions like heart disease and stroke.
Pituitary dwarfism refers to a condition where the pituitary gland does not produce enough growth hormone, resulting in stunted growth and development.
A severe immune disorder characterized by a lack of functional immune cells, resulting in recurrent infections and failure to thrive.
Bacterial infections specifically affecting the respiratory tract, including conditions like strep throat or whooping cough.
A chronic inflammatory condition that specifically affects the colon and rectum, causing inflammation and ulcers in the lining of the large intestine.
A group of genetic disorders that impair the ability of certain white blood cells to kill bacteria and fungi. This leads to recurrent and severe infections, particularly in the lungs, skin, and other organs.
A group of viruses that are primarily transmitted to humans through contact with infected rodents or their urine, droppings, or saliva. Hantavirus infections can cause severe respiratory illnesses.
A form of bipolar disorder characterized by the presence of at least one manic episode, which may or may not be followed by depressive episodes.
A viral infection that primarily affects birds but can also be transmitted to humans, causing respiratory illness.
Refers to bladder cancer that is characterized by slow-growing cancer cells that are less likely to spread to other parts of the body.
A group of skin disorders that resemble acne, characterized by the presence of papules, pustules, and comedones.
An autoimmune disease where the immune system destroys the insulin-producing cells in the pancreas, resulting in high blood sugar levels.
Breast cancer that tests positive for the human epidermal growth factor receptor 2 (HER2) protein, which promotes the growth of cancer cells.
A genetic disorder that affects the growth and development of the ends of long bones, leading to joint pain, stiffness, and deformities.
A bacterial infection caused by Mycobacterium avium complex (MAC), which can affect multiple organs, especially in individuals with compromised immune systems.
Marked by recurrent and unexpected panic attacks, which are intense episodes of fear and discomfort. Panic attacks can be accompanied by physical symptoms such as rapid heartbeat, shortness of breath, and chest pain.
Rare cancers that occur in the head and neck region, including the mouth, throat, nose, sinuses, salivary glands, and thyroid gland.
These are a group of rare genetic disorders that impair the body's ability to break down fats for energy. This can lead to a buildup of fatty acids and a deficiency of energy, causing various symptoms and complications.
A type of mitochondrial disease that specifically affects the heart, leading to heart muscle dysfunction and various cardiac symptoms.
Autoimmune diseases that involve multiple endocrine glands, leading to dysfunction and hormonal imbalances.
Zoonotic infections that can be transmitted through contaminated water sources.
Also known as dental caries or tooth decay, cavities are areas of tooth damage caused by the breakdown of tooth enamel.
A condition where a man ejaculates too quickly during sexual intercourse, often before or shortly after penetration.
A chronic autoimmune condition characterized by the rapid buildup of skin cells, resulting in red, scaly patches.
Gastrointestinal opportunistic infections
Infections that affect the gastrointestinal tract, often caused by bacteria, viruses, or parasites.
A type of COPD characterized by damage to the air sacs in the lungs, leading to reduced lung function and shortness of breath. It is often caused by long-term exposure to irritants, such as cigarette smoke.
Meningitis caused by the bacterium Mycobacterium tuberculosis, which is associated with tuberculosis.
Hunter syndrome, also known as mucopolysaccharidosis type II (MPS II), is a rare genetic disorder that affects the body's ability to break down certain carbohydrates. It leads to the buildup of substances called glycosaminoglycans, causing a wide range of symptoms including developmental delays, skeletal abnormalities, and organ damage.
A genetic disorder characterized by muscle stiffness and weakness, as well as other symptoms such as myotonia (delayed muscle relaxation) and heart problems.
X-linked ichthyosis is a genetic skin disorder that primarily affects males. It is characterized by dry, scaly skin that can be thick and dark in appearance. This condition is caused by a mutation in the STS gene, which leads to a deficiency of the enzyme steroid sulfatase.
A group of genetic disorders that affect the development of the skin, hair, teeth, and sweat glands.
Hearing loss caused by exposure to certain medications or chemicals that are toxic to the ear.
These are abnormalities or lesions that affect the pituitary stalk, which connects the hypothalamus to the pituitary gland. These lesions can disrupt hormone regulation and cause various symptoms.
A disorder involving the misuse or dependence on medications that induce sleep or relaxation.
Refers to bladder cancer that has spread to other parts of the body, such as the lymph nodes, bones, or other organs.
X mendelian susceptibility to mycobacterial disease (msmd)
A group of genetic disorders that increase susceptibility to infections caused by mycobacteria, such as tuberculosis.
A hormonal disorder characterized by excessive growth hormone production, resulting in enlarged body parts.
Rare cancers that affect the skin, including various types of melanoma and non-melanoma skin cancers.
This circadian rhythm disorder is characterized by a consistent pattern of falling asleep and waking up later than desired, resulting in difficulty in maintaining a regular sleep schedule.
Arr arrhythmogenic right ventricular dysplasia
A genetic subtype of arrhythmogenic right ventricular dysplasia, a condition where the heart muscle is replaced by fatty or fibrous tissue.
Infections that affect the skin, causing symptoms such as redness, swelling, and pain.
A genetic disorder characterized by the impaired reabsorption of the amino acid cystine in the kidneys, resulting in the formation of kidney stones.
A group of genetic disorders that result in a deficiency of immunoglobulin class-switching, leading to recurrent infections.
Disorders that affect the blood vessels in the brain or other parts of the nervous system, leading to conditions such as strokes or vascular malformations.
Parasomnias are a group of sleep disorders that involve abnormal behaviors, movements, or experiences during sleep, such as sleepwalking, night terrors, or sleep talking.
Mitochondrial myopathy with external ophthalmoplegia
This mitochondrial disease is characterized by muscle weakness and paralysis of the muscles that control eye movement.
Cancer that develops in the pancreas, an organ responsible for producing enzymes and hormones.
Mitochondrial ataxia refers to a group of mitochondrial diseases that cause problems with coordination and balance due to dysfunction in the cerebellum.
These are genetic disorders influenced by multiple genes, where the combined effect of these genes contributes to the development of endocrine-related abnormalities.
A mental health condition that can develop after experiencing or witnessing a traumatic event. Symptoms may include flashbacks, nightmares, severe anxiety, and avoidance of triggers associated with the traumatic event.
A condition where the tissue that normally lines the uterus grows outside of it, causing pain and fertility problems.
A condition characterized by the leakage of large amounts of protein into the urine, often caused by damage to the filters in the kidneys.
Describes prostate cancer that no longer responds to hormone therapy, which is a common treatment for prostate cancer.
Mitochondrial myopathy with hearing loss
This mitochondrial disease is characterized by muscle weakness and progressive hearing loss.
Infections caused by fungi that can be transmitted between animals and humans.
Breast cancer that occurs in men, although it is much less common than in women.
Hearing loss that is inherited and caused by genetic mutations or abnormalities.
Macular degeneration is a condition that affects the macula, the central part of the retina, leading to a loss of central vision and difficulty with tasks like reading and recognizing faces.
Rare diseases that affect the blood vessels in the brain, leading to conditions such as strokes or vascular malformations.
Lung cancer that has spread to other parts of the body from its original site in the lungs.
Autosomal recessive neurological genetic diseases
These are genetic disorders that are caused by a mutation in a single gene on one of the autosomes (non-sex chromosomes) and are inherited in an autosomal recessive pattern.
Structural reproductive genetic disorders
This refers to genetic disorders that cause abnormalities or malformations in the structure of the reproductive organs or related structures.
A genetic disorder characterized by a deletion of genetic material on chromosome 7, resulting in developmental delays, distinctive facial features, cardiovascular problems, and intellectual disabilities.
A common skin condition characterized by the presence of pimples, blackheads, and whiteheads on the face, chest, and back.
A disorder characterized by the misuse or dependence on inhalants, such as solvents or aerosols, resulting in harmful effects on the body and mind.
Attention-deficit/hyperactivity disorder (adhd)
A neurodevelopmental disorder characterized by persistent patterns of inattention, hyperactivity, and impulsivity that can interfere with daily functioning and development.
Refers to prostate cancer that has spread from the prostate gland to other distant organs or tissues, such as bones, lymph nodes, or distant organs.
Cataracts occur when the lens of the eye becomes cloudy, leading to blurry vision and difficulty seeing clearly.
A condition where multiple types of dementia occur simultaneously, often a combination of Alzheimer's disease and vascular dementia, leading to a more complex set of symptoms.
A genetic subtype of Fabry disease, a rare disorder that affects the heart, kidneys, and other organs due to the buildup of a specific type of fat.
A group of rare autoimmune disorders that cause blistering of the skin and mucous membranes.
Retinitis pigmentosa is a genetic disorder that causes the breakdown and loss of cells in the retina, resulting in progressive vision loss and difficulty seeing in low light.
Rare cancers that affect the digestive system, including the esophagus, stomach, small intestine, colon, and rectum.
Lipodystrophies are a group of disorders characterized by abnormal distribution of fat in the body. This can result in loss of fat in certain areas and excess fat accumulation in others. Lipodystrophies can lead to metabolic abnormalities and increased risk of diabetes and cardiovascular diseases.
Maple syrup urine disease is a rare genetic disorder that affects the body's ability to break down certain amino acids, specifically leucine, isoleucine, and valine. This leads to the buildup of toxic substances in the blood and urine, which can cause a distinctive sweet odor in the urine. If left untreated, MSUD can lead to severe neurological problems, including seizures, developmental delays, and coma.
In this condition, the immune system mistakenly attacks and destroys red blood cells.
Fungal infections that affect the outermost layer of the skin, such as athlete's foot or ringworm.
X-linked transient hypogammaglobulinemia of infancy
X-linked transient hypogammaglobulinemia of infancy is a temporary condition that occurs in male infants where there is a delay in the development of normal levels of immunoglobulins, particularly IgG, which can result in an increased susceptibility to infections during the first few years of life.
Also known as Addison's disease, it is a condition where the adrenal glands do not produce enough hormones.
Refers to prostate cancer that responds to hormone therapy, meaning the cancer growth can be slowed or stopped by hormonal treatments.
Refers to bladder cancer that is confined to the inner lining of the bladder and has not invaded the muscle layer.
A group of skin disorders characterized by inflammation of the blood vessels in the skin.
This mitochondrial disease is characterized by muscle weakness and hearing loss.
Restless legs syndrome is a condition characterized by an irresistible urge to move the legs, often accompanied by uncomfortable sensations, especially during periods of rest or inactivity.
Also known as nevoid basal cell carcinoma syndrome, it is a genetic disorder that predisposes individuals to the development of multiple basal cell carcinomas and other skin abnormalities.
Also known as "lazy eye," amblyopia is a condition where one eye has reduced vision compared to the other, often due to a developmental issue in childhood.
A rare disorder characterized by abnormal immune system function, leading to recurrent infections and other health problems. It is also associated with albinism and neurological abnormalities.
Major depressive disorder with atypical features
This subcategory of depression is characterized by mood reactivity, meaning that individuals may experience temporary improvements in mood in response to positive events. They may also have increased appetite or weight gain, excessive sleepiness, and a feeling of heaviness in the limbs.
A benign skin condition characterized by small, dark, raised bumps on the face and neck, commonly seen in individuals with darker skin tones.
Myoclonic epilepsy with ragged red fibers (merrf)
MERRF is a mitochondrial disorder characterized by myoclonic seizures, muscle weakness, and the presence of ragged red fibers in muscle tissue.
A genetic disorder that primarily affects males and results in a lack of mature B cells and immunoglobulins. This leads to an increased susceptibility to bacterial infections, particularly in the respiratory tract.
HPV is a common sexually transmitted infection that can cause genital warts and various types of cancers, including cervical, anal, and throat cancer.
Arr marfan syndrome is a subcategory of Cardiovascular genetic diseases. Genetic conditions that affect the heart and blood vessels.
Describes skin conditions characterized by the presence of hives or wheals, which are raised, itchy, and often red or pale swellings on the skin.
A type of lymphoma characterized by the presence of specific abnormal cells called Reed-Sternberg cells. It typically starts in the lymph nodes and can spread to other parts of the body.
Hereditary nonpolyposis colorectal cancer (hnpcc)
An inherited condition that increases the risk of developing colorectal cancer and other types of cancer.
Merkel cell carcinoma is a rare and aggressive type of skin cancer that typically develops on sun-exposed areas of the body. It arises from the Merkel cells, which are responsible for the sense of touch.
This mitochondrial disease is characterized by muscle weakness and diabetes mellitus.
An autoimmune disorder where the ingestion of gluten leads to damage in the small intestine.
An autoimmune disease that leads to inflammation of the thyroid gland, causing hypothyroidism.
Mitochondrial myopathy with optic neuropathy
This mitochondrial disease is characterized by muscle weakness and optic neuropathy, which is damage to the optic nerve.
Phenylketonuria is a genetic disorder that affects the body's ability to break down the amino acid phenylalanine, leading to a buildup of this amino acid in the blood.
Fungal infections that spread throughout the body, often affecting internal organs and potentially causing severe illness.
A progressive brain disorder that affects memory, thinking, and behavior.
A condition where the adrenal glands do not produce enough hormones due to a problem with the pituitary gland or hypothalamus.
This is a group of mitochondrial diseases characterized by a significant reduction in the amount of mitochondrial DNA, leading to impaired mitochondrial function.
Hookworm infection is caused by parasitic worms that attach to the lining of the small intestine. These worms feed on blood, leading to anemia and other symptoms. Hookworm infection is commonly acquired by walking barefoot on contaminated soil.
Leber hereditary optic neuropathy (lhon)
LHON is a genetic disorder that primarily affects the optic nerve, leading to vision loss and blindness.
This mitochondrial disease is characterized by muscle weakness and retinopathy, which is damage to the retina of the eye.
Lhon (leber's hereditary optic neuropathy)
A genetic disorder that primarily affects the optic nerves, leading to vision loss.
Immunodeficiencies that specifically affect T cells, leading to impaired cellular immune responses and increased susceptibility to infections.
A rapidly progressing cancer that affects the white blood cells, specifically the lymphocytes.
Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I), is a rare genetic disorder that affects the body's ability to break down certain sugars. This leads to the accumulation of substances called glycosaminoglycans in various tissues and organs, causing progressive damage and a range of symptoms, including skeletal abnormalities, organ enlargement, and developmental delays.
Abnormalities or defects in the cartilage and underlying bone, which can cause pain, joint dysfunction, and limited mobility.
A fungal infection caused by Pneumocystis jirovecii, primarily affecting the lungs, often seen in individuals with weakened immune systems.
Lymphoma that primarily affects the skin, causing rashes, lesions, and other skin-related symptoms.
A hormonal disorder in women, characterized by enlarged ovaries with small cysts and hormonal imbalances.
Fragile X syndrome is a genetic disorder that causes intellectual disability and behavioral and learning challenges. It is caused by a mutation in the FMR1 gene.
A genetic disorder in males caused by the presence of an extra X chromosome, resulting in infertility, reduced testosterone production, and physical characteristics such as tall stature and gynecomastia.
Hepatitis C is a viral infection that primarily affects the liver and is transmitted through contact with infected blood. It can cause chronic liver disease and may lead to liver cirrhosis or liver cancer if left untreated.
A parasitic infection caused by the Trypanosoma parasite, transmitted through the bite of infected tsetse flies, leading to systemic symptoms and potentially affecting the central nervous system.
X-linked agammaglobulinemia is a genetic disorder that primarily affects males and is characterized by a lack of mature B cells and a severe deficiency in immunoglobulins, leading to recurrent bacterial infections.
These are a group of rare genetic disorders that affect the body's ability to properly attach sugar molecules to proteins or lipids, leading to a wide range of symptoms and complications.
The most common type of colorectal cancer that starts in the glandular cells lining the colon or rectum.
An inherited blood disorder that affects the production of hemoglobin, resulting in a reduced number of red blood cells and anemia.
A genetic disorder characterized by abnormal development of the bones and teeth, particularly affecting the collarbones and skull.
Autoimmune diseases that primarily affect the kidneys, leading to inflammation and damage to the renal tissues.
Kaposi sarcoma is a type of cancer that develops from the cells lining blood vessels or lymphatic vessels. It is often associated with a viral infection called human herpesvirus 8 (HHV-8) and can appear as skin lesions, typically with a purplish or reddish color.
Blockage or stuffiness in the nasal passages, often caused by inflammation or excess mucus.
A type of depression that occurs after childbirth and is characterized by feelings of extreme sadness, anxiety, and exhaustion.
A fast-growing cancer that starts in the bone marrow and affects the myeloid cells, which are responsible for producing red blood cells, white blood cells, and platelets.
A group of rare genetic disorders that affect the kidneys' ability to reabsorb salt, leading to electrolyte imbalances and fluid loss.
Ich epidermolysis bullosa is a subcategory of Dermatological genetic diseases. Genetic disorders that primarily affect the skin, causing various skin abnormalities and conditions.
A condition in which the lung tissue becomes scarred and thickened, leading to difficulty breathing and reduced lung function. It can be caused by various factors, including certain medications, environmental exposures, and autoimmune diseases.
A group of rare genetic disorders characterized by the development of tumors in multiple endocrine glands.
An infection that affects the lungs, often caused by bacteria or viruses. Hospital-acquired pneumonia refers to cases of pneumonia that develop during a hospital stay.
A genetic subtype of hereditary hemorrhagic telangiectasia.
Genetic disorders that affect the pancreas, an organ involved in the production of insulin and other important hormones.
A condition where the Eustachian tube, which connects the middle ear to the back of the throat, does not function properly, leading to ear pressure, pain, and hearing problems.
This mitochondrial disease is characterized by muscle weakness and ptosis, which is drooping of the eyelids.
Tumors that develop from ependymal cells, which line the ventricles of the brain and the central canal of the spinal cord.
Open sores that develop on the lining of the stomach, small intestine, or esophagus, often caused by infection or long-term use of certain medications.
Stroke-like episodes) is a subcategory of Mitochondrial diseases. These are a group of rare genetic disorders that affect the function of mitochondria, the powerhouses of the cells responsible for producing energy. This can lead to a wide range of symptoms and complications, as various organs and systems rely on energy produced by mitochondria.
Autosomal dominant neurological genetic diseases
These are genetic disorders that are caused by a mutation in a single gene on one of the autosomes (non-sex chromosomes) and are inherited in an autosomal dominant pattern.
Staphylococcal infections are caused by the bacteria Staphylococcus aureus and can lead to skin infections, pneumonia, and bloodstream infections.
These are rare diseases that involve abnormalities in the way the body breaks down or uses carbohydrates, leading to issues with energy production and storage.
A rare musculoskeletal disease that affects the development of the spine and the ends of long bones, leading to short stature and skeletal abnormalities.
Inability of a man to impregnate a woman due to issues with sperm production or function.
Infections that affect the urinary system, including the bladder and kidneys. Hospital-acquired urinary tract infections often occur due to the use of urinary catheters or other invasive procedures.
Stroke-like episodes are a characteristic feature of Melas syndrome. These episodes resemble strokes and can cause symptoms such as weakness, numbness, and difficulty speaking or understanding speech. They are caused by impaired blood flow to certain areas of the brain.
Norovirus infection is a highly contagious viral infection that causes inflammation of the stomach and intestines, leading to symptoms such as vomiting, diarrhea, and stomach cramps.
Inflammation of the tonsils, often causing a sore throat, difficulty swallowing, and swollen lymph nodes.
Inflammation or irritation of a tendon, often caused by repetitive movements or overuse.
Tumors that develop from astrocytes, a type of glial cell in the brain.
Infections caused by bacteria that lead to inflammation of the gastrointestinal tract.
Retinitis pigmentosa) is a subcategory of Mitochondrial diseases. These are a group of rare genetic disorders that affect the function of mitochondria, the powerhouses of the cells responsible for producing energy. This can lead to a wide range of symptoms and complications, as various organs and systems rely on energy produced by mitochondria.
A rare genetic disorder characterized by thickened nails (pachyonychia) and other skin abnormalities such as calluses and cysts.
Hyper IgM syndrome is a rare genetic disorder characterized by a deficiency in immunoglobulin class-switching, resulting in high levels of IgM antibodies and a decreased ability to produce other types of antibodies.
Types: bipolar i disorder is a subcategory of Bipolar disorder. A mood disorder characterized by extreme shifts in mood, energy levels, and activity levels.
A genetic disorder that affects the production of antibodies, leading to recurrent bacterial infections.
Autosomal dominant polycystic kidney disease
A genetic disorder characterized by the formation of numerous fluid-filled cysts in the kidneys, which can lead to kidney enlargement and impaired kidney function.
A form of diabetes that is caused by mutations in mitochondrial DNA, leading to impaired insulin production and glucose metabolism.
A disorder of the inner ear that causes episodes of vertigo, hearing loss, tinnitus (ringing in the ears), and a feeling of fullness in the affected ear.
These are infections that are transmitted to humans through the bites of infected ticks. Ticks can transmit various pathogens, including bacteria, viruses, and parasites, which can cause diseases in humans.
An abnormal growth of skin cells in the middle ear that can cause hearing loss and ear infections.
Fluid-filled sacs that develop on the ovaries, which can cause pain and hormonal imbalances.
Inflammatory bowel disease (ibd)-associated colorectal cancer
Colorectal cancer that develops in individuals with inflammatory bowel diseases such as Crohn's disease or ulcerative colitis.
Is congenital heart disease is a subcategory of Cardiovascular diseases. Disorders that affect the heart and blood vessels, including conditions like heart disease and stroke.
A subtype of ovarian cancer characterized by the presence of mucin-producing cells.
Rare cancers that specifically occur in children and adolescents, often requiring specialized treatment approaches.
A condition in which the thyroid gland produces excessive amounts of thyroid hormones, resulting in an overactive metabolism.
Early depletion or dysfunction of the ovaries, leading to a decrease in reproductive hormone production and potential infertility.
PID is an infection of the female reproductive organs, including the uterus, fallopian tubes, and ovaries. It is usually caused by sexually transmitted infections and can lead to complications such as infertility and chronic pelvic pain.
Colorectal cancer that specifically affects the rectum, the last part of the large intestine.
A form of arthritis characterized by sudden, severe attacks of pain, redness, and tenderness in joints.
A rare genetic disorder that primarily affects males and causes dry, scaly skin similar to ichthyosis, but with more severe symptoms.
Cutis laxa is a group of genetic disorders that affect the connective tissue, resulting in loose and sagging skin. This condition is characterized by skin that is wrinkled, inelastic, and may appear prematurely aged. It can also affect other organs and systems in the body, leading to various health issues.
Describes skin conditions that specifically affect the skin of the legs or groin area.
A genetic disorder that affects the immune system's ability to fight off certain types of bacteria and fungi, leading to recurrent infections and the formation of granulomas.
Inflammation of the sinuses, often caused by infection or allergies, leading to symptoms such as facial pain and pressure.
An autoimmune disease that primarily affects the salivary and tear glands, leading to dry mouth and eyes.
Chlamydia infections are caused by the bacteria Chlamydia trachomatis and can affect the reproductive organs, eyes, and respiratory system.
Refers to various infections that can occur in the mouth, including oral thrush, cold sores, and canker sores.
A condition involving the misuse or dependence on opioids, including prescription painkillers or illicit drugs like heroin, leading to physical and psychological dependence and negative consequences.
A condition characterized by excessive body weight and an accumulation of fat, often resulting from an imbalance between calorie intake and energy expenditure.
A disorder characterized by the overproduction of red blood cells, leading to an increased viscosity of the blood.
Prader-willi syndrome is a genetic disorder characterized by poor muscle tone, feeding difficulties, delayed development, and intellectual disabilities.
A specific subtype of ovarian cancer characterized by the presence of clear cells.
A noncancerous tumor that develops in the pituitary gland, a small gland located at the base of the brain.
A type of arthritis that affects some individuals with psoriasis, causing joint pain, stiffness, and swelling, often accompanied by skin and nail changes.
A group of disorders characterized by elevated levels of lipoproteins in the blood, which can lead to the development of atherosclerosis and other cardiovascular problems.
Narcolepsy is a neurological disorder that causes excessive daytime sleepiness and sudden, uncontrollable episodes of falling asleep.
Abnormal growths or masses that can develop in the nasal cavity or sinuses, which may be benign or malignant.
A condition characterized by the development of multiple nodules in the adrenal glands, leading to hormone imbalances.
A parasitic infection caused by filarial worms transmitted through mosquito bites, resulting in lymphatic and/or subcutaneous tissue damage.
A group of genetic disorders that cause progressive degeneration of the kidneys' tubules, leading to chronic kidney disease and eventual kidney failure.
A rare inherited disorder that affects the bone marrow and leads to bone marrow failure, increased risk of cancer, and physical abnormalities.
Mitochondrial nephropathy refers to a group of mitochondrial diseases that primarily affect the kidneys, leading to kidney dysfunction.
Mitochondrial myopathy with leukoencephalopathy
This mitochondrial disease is characterized by muscle weakness and the presence of leukoencephalopathy, which is a disorder affecting the white matter of the brain.
Gastrointestinal stromal tumors (GISTs) are rare tumors that develop in the gastrointestinal tract, typically in the stomach or small intestine.
Mitochondrial diseases that are not inherited but develop later in life due to various factors, such as exposure to toxins or certain medications.
Fungal infections that specifically affect the nails, causing discoloration, thickening, and brittleness of the nails.
An X-linked genetic disorder characterized by eczema, low platelet count, and immunodeficiency, leading to recurrent infections and an increased risk of autoimmune disorders and malignancies.
A common skin condition that causes red, scaly patches and dandruff, often affecting the scalp, face, and other oily areas of the body.
A condition characterized by the development of multiple polyps in the gastrointestinal tract, particularly in the colon and rectum, during childhood.
Abnormal growths in the pituitary gland that can be either benign or malignant, causing hormonal imbalances and other complications.
A type of dermatitis that presents as coin-shaped patches of irritated and itchy skin.
These are a group of disorders characterized by a reduction in the amount of mitochondrial DNA in cells, leading to impaired mitochondrial function and energy production. This can result in a wide range of symptoms affecting various organs and systems in the body.
A heterogeneous group of disorders characterized by low levels of antibodies, resulting in an increased susceptibility to infections. It typically presents in adulthood and can lead to recurrent respiratory, gastrointestinal, and other infections.
Ich ichthyosis is a subcategory of Dermatological genetic diseases. Genetic disorders that primarily affect the skin, causing various skin abnormalities and conditions.
These are a group of rare genetic disorders that affect the function of peroxisomes, cellular structures involved in various metabolic processes. Defects in peroxisomes can lead to a buildup of toxic substances and cause damage to cells and organs.
Breast cancer that starts in the milk-producing glands (lobules) and spreads to nearby tissues.
Major depressive disorder with melancholic features
This subcategory of depression is characterized by a loss of pleasure or interest in almost all activities, along with distinct depressive symptoms such as early morning awakening, excessive guilt, and a lack of reactivity to positive events.
A rare disorder characterized by the development of polyps in the gastrointestinal tract and pigmented spots on the lips, mouth, and other areas of the body.
A group of inherited disorders that cause the skin to be extremely fragile and prone to blistering and tearing even with minor trauma or friction.
Absence or cessation of menstrual periods.
A disorder characterized by the misuse or dependence on hallucinogenic substances, resulting in altered perceptions, thoughts, and emotions.
Inflammation of the larynx, which can cause hoarseness or loss of voice.
A noncancerous tumor that develops on the nerve responsible for balance and hearing.
A viral infection caused by the cytomegalovirus (CMV), which can affect various organs, particularly in individuals with weakened immune systems.
Involves an intense fear of social situations and being judged or embarrassed by others. People with social anxiety may avoid social interactions and experience extreme self-consciousness and anxiety in social settings.
Rett syndrome is a rare genetic disorder that primarily affects girls. It leads to severe cognitive and physical impairments, including loss of purposeful hand skills and the ability to speak.
A localized infection in the brain, characterized by the formation of a pocket of pus.
Abnormal hardening or increased density of bone tissue, often leading to bone fragility, pain, and limited mobility.
Genetic disorders that impact the pituitary gland, which controls the release of various hormones that regulate growth, metabolism, and other bodily functions.
A type of COPD characterized by inflammation and narrowing of the bronchial tubes, leading to persistent cough and excessive mucus production.
A group of inherited blood disorders that affect the production of hemoglobin, leading to anemia and other complications.
The inability to achieve or maintain an erection sufficient for sexual intercourse.
Infection or inflammation of the middle ear, often occurring in children and causing ear pain, fluid buildup, and temporary hearing loss.
A group of disorders characterized by mitochondrial dysfunction, affecting the brain and muscles, leading to a range of neurological and muscular symptoms.
Genetic disorders that affect the thyroid gland, which produces hormones that regulate metabolism and other important functions.
An autoimmune disorder that primarily affects the joints, causing pain, swelling, and stiffness.
Corneal dystrophies are a group of genetic disorders that affect the cornea, the clear front surface of the eye. They can cause the cornea to become cloudy or distorted, leading to vision problems such as blurred vision or sensitivity to light.
A genetic disorder characterized by severe osteoporosis and visual impairments.
Strabismus, also known as crossed eyes or squint, is a condition where the eyes do not align properly, causing one eye to look in a different direction than the other.
Rare urologic cancers refer to uncommon types of cancers that affect the urinary system and male reproductive organs, including cancers like renal pelvis cancer, ureteral cancer, and testicular cancer.
A rare type of colorectal cancer that arises from neuroendocrine cells and can produce hormones.
Abnormal sideways curvature of the spine.
Disorders caused by mutations in genes on the Y chromosome.
The most common type of skin cancer that develops in the basal cells of the skin's outermost layer.
A highly aggressive form of lymphoma that primarily affects children and young adults.
The most common type of breast cancer, where cancer cells invade the surrounding breast tissue.
Colorectal cancer that occurs at a younger age than typical cases.
Helicobacter pylori infection is a bacterial infection that affects the stomach lining. It is a common cause of peptic ulcers and can also lead to chronic gastritis. Many people with H. pylori infection do not experience any symptoms, but it can cause abdominal pain, bloating, and nausea in some cases.
Keratoconus is a progressive eye disorder where the cornea thins and bulges into a cone shape, causing distorted vision and sensitivity to light.
Narp (neuropathy is a subcategory of Mitochondrial diseases. These are a group of rare genetic disorders that affect the function of mitochondria, the powerhouses of the cells responsible for producing energy. This can lead to a wide range of symptoms and complications, as various organs and systems rely on energy produced by mitochondria.
Inflammatory bowel disease-associated genetic disorders
Genetic factors that contribute to the development of inflammatory bowel diseases, such as Crohn's disease and ulcerative colitis.
Hearing loss caused by prolonged exposure to loud noises, damaging the hair cells in the inner ear.
Ich neurofibromatosis type 1 is a subcategory of Dermatological genetic diseases. Genetic disorders that primarily affect the skin, causing various skin abnormalities and conditions.
Chronic pain condition characterized by widespread musculoskeletal pain, fatigue, and tenderness.
A bacterial infection that primarily affects cattle but can be transmitted to humans through consumption of contaminated dairy products or close contact with infected animals.
Diabetic retinopathy is a complication of diabetes that affects the blood vessels in the retina, leading to vision problems and potential blindness if left untreated.
A rare form of chronic pancreatitis caused by an autoimmune reaction, leading to inflammation and damage to the pancreas.
Uveitis is an inflammation of the uvea, the middle layer of the eye, which can cause eye redness, pain, blurred vision, and sensitivity to light.
Mitochondrial myopathy with leukodystrophy
This mitochondrial disease is characterized by muscle weakness and the presence of leukodystrophy, which is a disorder affecting the white matter of the brain.
Colorectal cancer that has spread to other parts of the body, such as the liver or lungs.
Describes skin conditions characterized by the formation of granulomas, which are small nodules or masses of immune cells, often resulting from an immune response to an underlying infection or foreign substance.
The most aggressive and malignant brain tumors, also known as glioblastomas, which tend to grow rapidly and are associated with a poor prognosis.
The formation of small pouches in the colon that can become inflamed or infected.
Mitochondrial retinopathy refers to a group of mitochondrial diseases that primarily affect the retina of the eye, leading to retinopathy.
Intermediate-grade brain tumors that are more aggressive than grade i tumors but less aggressive than higher-grade tumors.
A genetic disorder characterized by progressive muscle weakness and wasting, typically starting in the legs and pelvis.
A long-term condition where the kidneys gradually lose their ability to function properly.
Liver disorders caused by mitochondrial dysfunction, leading to impaired liver function and various liver-related symptoms.
This type of ovarian cancer develops in the cells that produce eggs and is more common in younger women.
Pituitary gigantism is a rare condition caused by an overproduction of growth hormone from the pituitary gland, leading to excessive growth and abnormal height.
Strategies and measures aimed at reducing the risk of developing prostate cancer or preventing its progression.
A subtype of breast cancer that lacks estrogen receptors, progesterone receptors, and HER2 protein.
A condition characterized by the presence of small, punctate spots or lesions on the skin.
A genetic disorder that primarily affects the muscles of the face, shoulders, and upper arms, causing progressive muscle weakness and wasting.
This category includes disorders characterized by the presence of tumors in the pituitary gland, which can affect hormone production and cause a range of symptoms.
X-linked selective IgA deficiency is a rare genetic disorder that primarily affects males and is characterized by low or absent levels of immunoglobulin A (IgA), which can lead to an increased risk of infections, particularly in the respiratory and gastrointestinal tracts.
A rare immune disorder characterized by recurrent infections, eczema, and high levels of immunoglobulin E (IgE).
Hepatitis B is a viral infection that affects the liver and is transmitted through contact with infected blood or other body fluids.
Parasitic infections caused by organisms that live on the external surface of the host, such as lice, fleas, ticks, and mites.
A rare condition where there is bleeding or impaired blood flow to the pituitary gland, often resulting in sudden onset of severe headache and hormonal dysfunction.
Genital herpes is a viral infection caused by the herpes simplex virus (HSV). It is characterized by painful sores or blisters on the genitals or surrounding areas.
A type of lung cancer that is characterized by the presence of large, abnormal cells.
Res Leigh syndrome refers to a group of mitochondrial diseases that resemble Leigh syndrome, a severe neurological disorder characterized by progressive brain damage.
Genetic disorders that increase the risk of developing colorectal cancer, often associated with the development of polyps in the colon and rectum.
This is a group of inherited neurological disorders that primarily affect the peripheral nerves, leading to muscle weakness and sensory loss in the limbs.
A genetic disorder characterized by the formation of cysts in the medulla, or inner region, of the kidneys, leading to progressive kidney damage.
A group of genetic disorders that affect bone and cartilage development, resulting in abnormal growth and skeletal abnormalities.
Genetic disorders that affect the parathyroid glands, which regulate calcium levels in the body.
Central nervous system rare cancers refer to rare types of cancers that affect the brain and spinal cord, such as glioblastoma multiforme, medulloblastoma, and ependymoma.
A genetic condition characterized by the development of numerous polyps in the colon and rectum, leading to a high risk of colorectal cancer.
X common variable immunodeficiency (cvid)
CVID is a primary immunodeficiency disorder characterized by low levels of immunoglobulins, particularly IgG, and an increased susceptibility to recurrent bacterial infections.
A rare genetic disorder that primarily affects the muscles of the upper arms, lower legs, and heart, leading to muscle weakness and joint stiffness.
A group of genetic disorders that primarily affect the muscles of the hips and shoulders, leading to progressive muscle weakness and wasting.
A neurodevelopmental disorder characterized by severe intellectual disability, speech impairment, motor and balance problems, and a happy and excitable demeanor.
G6pd deficiency is a genetic disorder that leads to the destruction of red blood cells when exposed to certain triggers, such as certain foods or medications.
Niemann-Pick disease is a group of inherited metabolic disorders characterized by the abnormal accumulation of lipids, particularly sphingomyelin, in various tissues and organs. This can lead to progressive damage and dysfunction of the affected organs, including the liver, spleen, lungs, and brain. Symptoms can vary widely depending on the specific type of Niemann-Pick disease.
A parasitic infection caused by the Giardia parasite, typically contracted through contaminated food or water, leading to gastrointestinal symptoms.
Opportunistic infections that affect the genital and urinary systems, including the kidneys, bladder, urethra, and reproductive organs.
A fast-growing tumor that primarily affects children and arises in the lower back part of the brain.
A degenerative disorder that affects movement, causing tremors, stiffness, and difficulty with balance and coordination.
A parasitic infection caused by the amoeba parasite, which primarily affects the intestines but can also spread to other organs.
Erythema multiforme is a hypersensitivity reaction that causes target-like or bull's eye-shaped skin lesions, often triggered by infections or medications.
Refers to the most common type of bladder cancer, which starts in the cells lining the inside of the bladder.
Tumors that arise from oligodendrocytes, a type of glial cell that produces myelin in the brain.
Tumors that have spread to the brain from cancer originating in other parts of the body.
Denotes prostate cancer that is confined to the prostate gland and has not spread to other parts of the body.
Heart failure accompanied by fluid buildup in the body.
Abnormal growths or lumps that form within the thyroid gland, which can be benign (non-cancerous) or malignant (cancerous).
A neurodegenerative disorder characterized by the progressive degeneration of nerve cells in the cerebral cortex and basal ganglia, leading to movement difficulties, cognitive impairments, and other neurological symptoms.
A parasitic infection transmitted by sandflies that can cause skin sores, ulcers, and damage to internal organs.
These are a group of rare genetic disorders that affect the body's ability to break down and store glycogen, a form of sugar used for energy. This can lead to a buildup of glycogen in various tissues and organs, causing a range of symptoms.
A group of conditions that affect the glomeruli, leading to impaired kidney function and the leakage of blood and protein into the urine.
Stargardt disease is a genetic disorder that affects the macula, the central part of the retina responsible for sharp, central vision. It typically begins in childhood or adolescence and leads to progressive vision loss, including difficulties with reading and recognizing faces.
A form of bipolar disorder characterized by recurrent episodes of major depression and hypomania.
Includes skin disorders that involve the abnormal growth of cells, leading to the development of tumors or cancerous lesions.
This type of anemia occurs when there is a lack of iron in the body, leading to a decrease in the production of red blood cells.
A type of dermatitis that occurs when the skin comes into contact with a substance that triggers an allergic reaction.
Ring chromosome is a chromosomal disorder where a portion of a chromosome is lost and the remaining ends fuse together to form a ring-like structure. This can result in various developmental and physical abnormalities.
Autosomal recessive polycystic kidney disease
A genetic disorder that affects the development of the kidneys, leading to the formation of cysts and potential complications.
A type of arthritis that occurs in children and adolescents, characterized by joint inflammation and stiffness.
A type of dementia characterized by the presence of abnormal protein deposits called Lewy bodies in the brain. It leads to cognitive decline, visual hallucinations, motor symptoms similar to Parkinson's disease, and fluctuations in alertness and attention.
Noncancerous growths that develop in the uterus, which can cause heavy or painful periods, pelvic pain, and fertility problems.
A genetic disorder where the immune system is unable to produce normal levels of immunoglobulin M (IgM), leading to recurrent infections and increased susceptibility to opportunistic infections.
Meningitis caused by a viral infection, usually less severe than bacterial meningitis.
This is an inherited condition where red blood cells have a spherical shape instead of the normal disc shape, leading to their premature destruction.
A viral infection transmitted to humans through the bite of infected mosquitoes. The virus primarily circulates in birds but can also infect other animals, including humans.
This circadian rhythm disorder is characterized by a disrupted sleep pattern, with no clear distinction between periods of sleep and wakefulness.
HIV (Human Immunodeficiency Virus) is a virus that attacks the immune system, leading to a weakened defense against infections and diseases. AIDS (Acquired Immunodeficiency Syndrome) is the advanced stage of HIV infection, characterized by severe immune system damage.
Complement is a group of proteins that play a role in the immune response. Deficiencies in these proteins can result in an increased susceptibility to infections.
A condition caused by prolonged exposure to high levels of cortisol, a hormone produced by the adrenal glands.
A type of lung cancer that typically grows and spreads quickly. It is often associated with smoking and tends to respond well to chemotherapy.
Refers to bladder cancer that is characterized by aggressive and fast-growing cancer cells.
Refers to bladder cancer that has grown into the muscle layer of the bladder wall, increasing the risk of spreading to nearby tissues or organs.
Infections caused by parasites that affect the gastrointestinal system.
Rare infectious diseases caused by bacterial pathogens. These diseases can affect various body systems and may require specific antibiotic treatments.
Is peripheral artery disease is a subcategory of Cardiovascular diseases. Disorders that affect the heart and blood vessels, including conditions like heart disease and stroke.
A type of cancer that starts in the bone marrow and affects the myeloid cells, leading to the overproduction of abnormal white blood cells. It typically progresses slowly at first but can accelerate over time.
Occurs when there is bleeding into the adrenal glands, often due to trauma or certain medical conditions.
Fungal infections that occur in the vagina, commonly known as yeast infections, causing itching, burning, and abnormal discharge.
A chronic lung disease that primarily affects premature infants who have received mechanical ventilation or oxygen therapy. It is characterized by abnormal development of the lungs, leading to breathing difficulties and long-term respiratory problems.
Rare cancers that affect the blood and bone marrow, including various types of leukemia, lymphoma, and myeloma.
A condition characterized by high levels of triglycerides in the blood, which can increase the risk of pancreatitis and cardiovascular disease.
Inflammation of the bursae, small fluid-filled sacs that cushion the joints.
A group of genetic disorders that primarily affect the metaphysis, the region of the bone between the growth plate and the shaft, leading to abnormal bone growth and development.
Ad sarcoma refers to rare types of soft tissue sarcomas that primarily affect the connective tissues in the body.
Homocystinuria is a metabolic disorder characterized by the body's inability to break down the amino acid homocysteine, leading to its accumulation in the blood and urine. This condition can cause various symptoms, including intellectual disability, skeletal abnormalities, and increased risk of blood clots.
Cone-rod dystrophy is a genetic disorder that primarily affects the cone and rod cells in the retina. It leads to progressive vision loss, particularly in the central and peripheral vision, and can cause color vision abnormalities.
A chronic condition where stomach acid flows back into the esophagus, causing symptoms like heartburn and acid regurgitation.
A slow-growing type of non-Hodgkin lymphoma that primarily affects the lymph nodes.
These are infections that are transmitted to humans through the bites of infected fleas. Fleas can carry various pathogens and transmit them to humans during feeding.
A type of diabetes that occurs during pregnancy and usually resolves after childbirth.
A progressive muscle-wasting disorder caused by mutations in the dystrophin gene.
An autoimmune disease that affects the central nervous system, leading to communication problems between the brain and the rest of the body.
A condition caused by rheumatic fever, which can damage the heart valves and lead to various heart problems.
A rare and aggressive type of non-Hodgkin lymphoma that typically affects older adults.
A common disorder that affects the large intestine, causing symptoms like abdominal pain, bloating, and changes in bowel habits.
A chronic inflammatory condition that primarily affects the gastrointestinal tract, causing inflammation and damage to the lining of the digestive system.
A condition involving the problematic use of tobacco products, such as cigarettes or chewing tobacco, leading to addiction, health problems, and negative effects on overall well-being.
Patau syndrome, also known as trisomy 13, is a chromosomal disorder characterized by the presence of an extra copy of chromosome 13. It results in severe intellectual disabilities and physical abnormalities.
A variant of familial adenomatous polyposis that is characterized by the development of polyps in the colon and rectum, as well as other noncancerous tumors.
A type of cancer that develops in the cells of the thyroid gland, often characterized by the formation of abnormal growths or tumors.
Arrhythmogenic right ventricular cardiomyopathy
A condition where the heart muscle in the right ventricle is replaced by fatty or fibrous tissue, leading to abnormal heart rhythms.
A condition characterized by the widening and inflammation of the bronchial tubes, resulting in chronic cough, mucus production, and recurrent respiratory infections.
A condition where the arteries that supply blood to the heart become narrowed or blocked, leading to reduced blood flow to the heart muscle.
A genetic disorder caused by the deletion of a small piece of chromosome 22. It results in the underdevelopment or absence of certain structures in the body, including the thymus gland, which leads to immune system abnormalities and increased susceptibility to infections.
A bacterial infection that is transmitted to humans through consumption of contaminated food, particularly undercooked poultry or eggs, causing diarrhea, fever, and abdominal cramps.
A genetic disorder that affects the lungs and other organs, causing the production of thick, sticky mucus. This can lead to recurrent lung infections, difficulty breathing, and poor growth.
Combination of both conductive and sensorineural hearing loss, where there are issues in both the outer/middle ear and the inner ear or auditory nerve.
Dementia caused by reduced blood flow to the brain, often resulting from strokes or other conditions that damage blood vessels, leading to problems with thinking, memory, and reasoning.
A genetic disorder that primarily affects the muscles of the eyes and throat, leading to droopy eyelids, difficulty swallowing, and muscle weakness.
Is coronary artery disease is a subcategory of Cardiovascular diseases. Disorders that affect the heart and blood vessels, including conditions like heart disease and stroke.
Inflammation of the gallbladder, often caused by the presence of gallstones or infection.
Protein-energy malnutrition is a condition caused by a lack of sufficient protein and/or calories in the diet, leading to inadequate growth, weight loss, and impaired immune function.
MSA is a rare neurodegenerative disorder that affects multiple systems in the body, including the autonomic nervous system, resulting in symptoms such as movement difficulties, autonomic dysfunction, and impaired coordination.
Glaucoma is a group of eye conditions that damage the optic nerve, often due to increased pressure in the eye, leading to vision loss and potential blindness.
A genetic subtype of Ehlers-Danlos syndrome, a connective tissue disorder that can affect the heart and blood vessels.
Spinal cord infections refer to infections that affect the spinal cord, leading to inflammation and potential damage to the nerves.
Rare bone cancers encompass uncommon types of cancers that develop in the bones, including conditions like osteosarcoma, Ewing sarcoma, and chondrosarcoma.
Inflammation of the nasal passages caused by an allergic reaction.
Also known as urticaria, hives are raised, itchy welts on the skin that can appear suddenly and disappear within hours or days.
Ich xeroderma pigmentosum is a subcategory of Dermatological genetic diseases. Genetic disorders that primarily affect the skin, causing various skin abnormalities and conditions.
Different treatment approaches for rare cancers
This subcategory focuses on exploring and developing unique treatment strategies for rare cancers, considering their distinct characteristics and challenges.
Advanced delayed sleep-wake phase disorder
This circadian rhythm disorder is characterized by a consistent pattern of falling asleep and waking up later than desired.
Similar to contact dermatitis, but occurs when the skin is exposed to irritating substances, such as chemicals or detergents, causing inflammation and skin damage.
This disorder occurs in individuals who work non-traditional hours, such as night shifts or rotating shifts. It is characterized by difficulties in adjusting to the irregular sleep-wake schedule, leading to excessive sleepiness or insomnia.
Gradual hearing loss that occurs as a natural part of aging, typically affecting higher frequencies first.
This is a genetic disorder that affects the motor neurons in the spinal cord, leading to muscle weakness and atrophy.
A specific subtype of ovarian cancer that resembles the tissue lining the uterus.
Bullous pemphigoid is an autoimmune blistering disorder that causes large, tense blisters on the skin, typically affecting older adults.
Infections caused by viruses, which can affect various organs and systems in the body and cause a wide range of symptoms.
Narrowing of the arteries that supply blood to the kidneys, which can reduce blood flow and affect kidney function.
Lymphoma that originates in the T-cells, which are another type of white blood cell involved in the immune response.
Arr familial thoracic aortic aneurysm and dissection
A genetic subtype of familial thoracic aortic aneurysm and dissection.
Alpers syndrome is a progressive neurodegenerative disorder that primarily affects children and is characterized by seizures, liver dysfunction, and developmental regression.
Dry eye syndrome occurs when the eyes do not produce enough tears or the tears evaporate too quickly, resulting in dryness, discomfort, and blurred vision.
A condition characterized by the loss of skin color in patches, resulting from the destruction of melanocytes, the cells responsible for producing pigment.
A slow-growing cancer that affects the white blood cells, specifically the lymphocytes, and typically progresses slowly over time.
Refers to skin disorders that are associated with underlying metabolic or systemic conditions, such as diabetes, thyroid disorders, or certain genetic disorders. These conditions can affect the appearance and health of the skin.
A chronic inflammatory disease that causes the airways to become narrow and inflamed, leading to symptoms such as wheezing, coughing, and shortness of breath.
A disorder that causes the body to absorb too much iron from the diet, leading to iron overload in various organs.
Small, rough growths on the skin caused by the human papillomavirus (HPV), typically appearing on the hands, feet, or genitals.
A sleep disorder characterized by pauses in breathing or shallow breathing during sleep. It can lead to daytime sleepiness, fatigue, and an increased risk of other health problems, including cardiovascular disease.
A neurological condition characterized by recurrent headaches, often accompanied by other symptoms such as nausea and sensitivity to light and sound.
Is valvular heart disease is a subcategory of Cardiovascular diseases. Disorders that affect the heart and blood vessels, including conditions like heart disease and stroke.
Omenn syndrome is a severe form of combined immunodeficiency characterized by a malfunctioning immune system. It is typically diagnosed in infancy and presents with severe infections, failure to thrive, and skin abnormalities.
Colorectal cancer that arises from serrated polyps, a type of growth in the colon or rectum.
Vocal cord nodules are small, benign growths that develop on the vocal cords, often caused by vocal strain or misuse. They can cause hoarseness and difficulty speaking.
A more aggressive and potentially deadly form of skin cancer that develops in the melanocytes, the cells that produce pigment in the skin.
A group of genetic disorders that cause red blood cells to have an abnormal shape, resulting in a range of symptoms including anemia and jaundice.
A specific type of sore throat caused by the Streptococcus bacteria.
Abnormal cells are found in the lobules of the breast, but they do not spread to nearby tissues.
Compression of the median nerve in the wrist, leading to pain, numbness, and weakness in the hand.
Insomnia refers to the inability to fall asleep or stay asleep, resulting in poor quality and insufficient sleep.
Involves skin disorders that primarily affect the hair follicles, leading to various symptoms such as hair loss, follicular papules, or scarring.
X-linked hyper-IgM syndrome is a rare genetic disorder that affects the immune system, specifically the production of immunoglobulin M (IgM) antibodies. It is characterized by low levels of IgG, IgA, and IgE antibodies, leading to an increased susceptibility to infections.
Non-invasive breast cancer where abnormal cells are found in the lining of the breast ducts.
A parasitic infection caused by the Cryptosporidium parasite, commonly found in contaminated water sources, leading to gastrointestinal symptoms.
A chronic autoimmune disease that can affect multiple organs and tissues, causing inflammation and damage.
A group of disorders that affect movement, muscle tone, and posture, often caused by brain damage before or during birth.
A genetic disorder that affects the connective tissues, leading to abnormalities in the skeletal system, heart, and blood vessels.
A malignant tumor that develops in the throat, potentially affecting the vocal cords, tonsils, or other throat structures.
Advanced advanced sleep-wake phase disorder
This is a circadian rhythm disorder characterized by a consistent pattern of falling asleep and waking up earlier than desired.
Infections that affect the respiratory system, including the lungs and airways, causing conditions like pneumonia, bronchitis, or influenza.
A genetic disorder that impairs the body's ability to control blood clotting, resulting in prolonged bleeding.
A sensation of spinning or dizziness, often associated with inner ear problems, causing a loss of balance and coordination.
A viral infection transmitted by mosquitoes that affects the brain and can cause inflammation, leading to symptoms such as fever, headache, and seizures.
Is arrhythmias is a subcategory of Cardiovascular diseases. Disorders that affect the heart and blood vessels, including conditions like heart disease and stroke.
A rare skin disorder characterized by linear lesions on the skin.
An infection of the central nervous system caused by the bacterium Treponema pallidum, which is associated with syphilis.
Rare gynecologic cancers include uncommon types of cancers that affect the female reproductive system, such as vaginal cancer, vulvar cancer, and gestational trophoblastic disease.
A parasitic infection caused by blood flukes of the Schistosoma genus, acquired through contact with contaminated freshwater, resulting in damage to various organs.
Disorders caused by mutations in genes on the X chromosome, where the presence of one copy of the mutated gene is sufficient to cause the disorder in females, and in males, the presence of the mutated gene on the single X chromosome they have.
Cerebral toxoplasmosis is an infection caused by the parasite Toxoplasma gondii, which can affect the brain and cause symptoms such as confusion, seizures, and headaches.
These are infections caused by bacteria that invade the skin, leading to various skin conditions such as cellulitis, impetigo, and folliculitis.
These infections are caused by parasites that infest the skin, resulting in conditions like scabies, lice infestation, and cutaneous larva migrans.
Hearing loss caused by mitochondrial dysfunction, which can affect the structures and function of the inner ear.
Retinal detachment occurs when the retina separates from the underlying tissue, leading to sudden vision loss and the need for immediate medical attention.
A condition where red blood cells are destroyed prematurely, leading to a shortage of healthy red blood cells.
A cluster of conditions, including high blood pressure, high blood sugar, excess body fat around the waist, and abnormal cholesterol levels, that increase the risk of heart disease, stroke, and diabetes.
A condition where accumulation of dirt, sebum, and sweat on the skin leads to the formation of thick, adherent scales.
Rare cancers that develop in the neuroendocrine cells, which are found throughout the body and produce hormones.
A fungal infection caused by Cryptococcus neoformans, primarily affecting the membranes surrounding the brain and spinal cord.
A chronic condition where the body becomes resistant to the effects of insulin or doesn't produce enough insulin to maintain normal blood sugar levels. It is often associated with lifestyle factors such as obesity and physical inactivity.
Hearing loss caused by problems in the outer or middle ear that prevent sound from reaching the inner ear.
Mitochondrial myopathy with exercise intolerance
This mitochondrial disease is characterized by muscle weakness and an inability to tolerate physical exercise.
Merrf (myoclonic epilepsy with ragged red fibers)
Merrf is a mitochondrial disease that primarily affects the muscles and the nervous system. It is characterized by myoclonic seizures, muscle weakness, and the presence of ragged red fibers in muscle tissue.
A chromosomal abnormality where a segment of a chromosome is duplicated, resulting in an extra copy of genetic material. This can cause developmental delays, intellectual disabilities, and other health problems.
Polycystic ovarian syndrome (PCOS) is a hormonal disorder that affects women of reproductive age. It is characterized by high levels of androgens (male hormones) in the body, leading to symptoms such as irregular periods, excessive hair growth, acne, and weight gain.
A non-cancerous tumor that develops in the adrenal gland.
Rare lung cancers encompass less common types of cancers that develop in the lungs, including conditions like carcinoid tumors, pleural mesothelioma, and pulmonary sarcomatoid carcinoma.
A chronic autoimmune disorder that primarily affects the skin, causing a variety of skin lesions.
An eating disorder characterized by recurrent episodes of consuming large amounts of food in a short period of time, often accompanied by a loss of control and feelings of guilt or shame.
A group of autoimmune blistering disorders characterized by the formation of large, tense blisters on the skin and mucous membranes.
A chronic and severe form of alcohol use disorder, often characterized by a strong craving for alcohol and the inability to control or stop drinking.
Refers to a group of skin disorders characterized by inflammation, redness, itching, and the formation of blisters or scales.
Renal insufficiency refers to a condition where the kidneys are unable to adequately perform their functions, such as filtering waste products and regulating fluid and electrolyte balance. It can be acute or chronic and may result from various underlying causes.
Rare cancer awareness and education initiatives
This subcategory involves efforts to raise awareness about rare cancers among the general public, healthcare professionals, and policymakers. It also includes educational programs and campaigns to provide information and resources about rare cancers.
Characterized by excessive and uncontrollable worry and anxiety about various aspects of life, often accompanied by physical symptoms such as restlessness, fatigue, and difficulty concentrating.
Breast cancer that has receptors for estrogen and/or progesterone, allowing hormones to promote the growth of cancer cells.
Adverse reactions to medications that involve an immune response, causing skin symptoms such as rashes, hives, or swelling.
A genetic disorder caused by the presence of an extra copy of chromosome 21, leading to intellectual disability, characteristic facial features, and increased risk of certain health conditions.
A life-threatening condition characterized by a sudden and severe deficiency of adrenal hormones.
A fungal infection caused by the Candida species, often affecting the mouth, throat, and genital areas.
All atopic dermatitis is a subcategory of Dermatitis. Inflammation of the skin that can result in redness, itching, and sometimes blistering or oozing.
Disorders characterized by inflammation in the nervous system, resulting in various neurological symptoms and impairments.
A neurological disorder characterized by recurrent seizures due to abnormal brain activity.
Genetic conditions that affect the structure or function of the testes, which can impact fertility and hormone production.
Infections that occur in individuals with weakened immune systems, such as those with HIV/AIDS or undergoing immunosuppressive therapy.
Conditions that affect the quality, timing, and duration of sleep, such as insomnia, sleep apnea, and narcolepsy.
Genetic diseases that are caused by abnormalities in the structure or number of chromosomes.
Encompasses skin infections caused by various microorganisms, such as bacteria, viruses, fungi, or parasites.
Rare cancers that affect the reproductive and urinary systems, including the kidneys, bladder, prostate, testicles, and ovaries.
Immunodeficiencies that involve defects in multiple components of the immune system, such as both B and T cells.
Skin disorders that are inherited and caused by genetic mutations, leading to conditions like ichthyosis or epidermolysis bullosa.
A group of genetic disorders characterized by the development of multiple polyps in the gastrointestinal tract.
These are inherited disorders that affect the immune system's ability to function properly, resulting in an increased susceptibility to infections.
Hearing loss that occurs after birth, often due to factors such as infections, medications, or exposure to loud noise.
Mitochondrial neurological genetic diseases
These are genetic disorders that are caused by mutations in the mitochondrial DNA and primarily affect the function of the mitochondria, which are responsible for producing energy in cells.
Polycystic ovaries refer to the presence of multiple small cysts on the ovaries. This condition is often associated with hormonal imbalances and can contribute to fertility problems and menstrual irregularities.
Add alcohol use disorder is a subcategory of Substance use disorders. Conditions involving the misuse or dependence on substances such as drugs or alcohol, leading to negative consequences on physical and mental health.
Dementia that typically occurs after the age of 65, with the most common form being Alzheimer's disease, characterized by progressive memory loss and cognitive decline.
Cancer that starts in the cells of the skin, often caused by exposure to ultraviolet (UV) radiation from the sun or tanning beds.
General term for any abnormality or impairment in the functioning of the pituitary gland.
Mitochondrial leukoencephalopathy refers to a group of mitochondrial diseases that primarily affect the white matter of the brain, leading to neurological symptoms.
Inflammation of the skin that can result in redness, itching, and sometimes blistering or oozing.
Describes prostate cancer that is confined to the prostate gland and has not spread to other parts of the body.
A group of genetic disorders that affect the development and growth of bones and cartilage, resulting in various skeletal abnormalities.
These are genetic disorders caused by mutations in a single gene, leading to abnormalities in the endocrine system.
Disorders that disrupt the metabolism of sphingolipids, a type of lipid involved in cell signaling and structure.
Disorders caused by mutations in a single gene that follows Mendelian inheritance patterns.
Conditions caused by deficiencies or imbalances in nutrients, such as malnutrition or eating disorders.
Immunodeficiencies that specifically affect B cells, a type of white blood cell responsible for producing antibodies.
These are genetic disorders that affect the reproductive system, including conditions that can impact fertility, pregnancy, and the development of the reproductive organs.
Tumors that originate in the brain itself, rather than spreading from other parts of the body.
Cancer that forms in the tissues of the bladder, the organ that stores urine.
These are genetic disorders that are influenced by a combination of genetic and environmental factors. They often involve complex interactions between multiple genes and environmental triggers.
Fungal infections that primarily affect the respiratory system, such as the lungs, sinuses, or throat, leading to symptoms like coughing, wheezing, and difficulty breathing.
Rare diseases caused by abnormalities or mutations in genes, often inherited from parents.
A group of neurodegenerative disorders that primarily affect the frontal and temporal lobes of the brain, resulting in changes in behavior, personality, language difficulties, and problems with executive functions.
Conditions that affect the parathyroid glands, which regulate calcium and phosphorus levels in the body.
A term used to describe mitochondrial diseases that primarily affect the brain and nervous system, leading to neurological symptoms.
These are genetic conditions that can impact a person's ability to reproduce, either by affecting the production or quality of gametes (sperm or eggs) or by interfering with the reproductive process.
These are immunodeficiency disorders characterized by a lack or dysfunction of antibodies, which are crucial for fighting off infections.
Conditions characterized by excessive and persistent feelings of fear, worry, and unease.
Genetic disorders that affect the gastrointestinal tract, including the stomach, intestines, and other digestive organs.
These are a group of mitochondrial diseases characterized by defects in the oxidative phosphorylation process, which is responsible for generating energy in the form of ATP.
Melas (mitochondrial encephalomyopathy is a subcategory of Mitochondrial diseases. These are a group of rare genetic disorders that affect the function of mitochondria, the powerhouses of the cells responsible for producing energy. This can lead to a wide range of symptoms and complications, as various organs and systems rely on energy produced by mitochondria.
Hematologic malignancies are rare cancers that affect the blood, bone marrow, and lymphatic system, including conditions like lymphoma, leukemia, and multiple myeloma.
Cancer that forms in the ovaries, the female reproductive organs that produce eggs.
Skin conditions that occur as a result of an allergic reaction, such as contact dermatitis or atopic dermatitis.
This category includes genetic disorders that affect the development or functioning of the reproductive organs, such as the ovaries, testes, uterus, or fallopian tubes.
Genetic disorders that primarily affect the muscles, leading to muscle weakness, wasting, or other muscular abnormalities.
Fungal infections that are limited to the outer layers of the skin, hair, or nails, causing mild symptoms and typically easy to treat.
Tubular diseases refer to conditions that affect the renal tubules, which are responsible for reabsorbing water and electrolytes from the urine. These diseases can lead to abnormalities in the reabsorption process, resulting in electrolyte imbalances and impaired kidney function.
A group of genetic disorders that cause the adrenal glands to produce excessive amounts of certain hormones.
Infections that affect the brain and spinal cord, causing conditions such as meningitis or encephalitis.
Genetic diseases that are caused by a mutation in one copy of an autosomal gene, and the presence of the mutated gene is sufficient to cause the disease.
A type of epilepsy that is associated with mitochondrial dysfunction, resulting in recurrent seizures.
Mitochondrial neuropathy refers to a group of mitochondrial diseases that primarily affect the peripheral nerves, leading to neuropathy.
Respiratory autosomal recessive diseases
Genetic diseases that primarily affect the respiratory system, leading to breathing difficulties or lung-related problems.
Mitochondrial neurogastrointestinal encephalopathy (mngie)
A rare genetic disorder that affects multiple systems in the body, causing gastrointestinal problems, neurological symptoms, and muscle weakness.
Parasitic infections that primarily affect the gastrointestinal tract, including various types of worms and protozoa.
These are acquired disorders that occur as a result of other factors, such as certain medications, chronic illnesses, or infections, which weaken the immune system.
Long-term conditions that affect the lungs and airways, such as chronic obstructive pulmonary disease (COPD) and asthma.
Is heart failure is a subcategory of Cardiovascular diseases. Disorders that affect the heart and blood vessels, including conditions like heart disease and stroke.
These are genetic disorders caused by mutations or abnormalities in a single gene. These disorders can be inherited in different patterns, such as autosomal dominant, autosomal recessive, or X-linked inheritance.
Encompasses skin disorders that involve abnormalities or diseases of the blood vessels in the skin, leading to various symptoms such as redness, swelling, or the formation of lesions.
Involves skin conditions that result from an allergic reaction to certain substances or allergens, leading to inflammation, itching, and the formation of rashes or hives.
Bacterial meningitis is an infection that causes inflammation of the protective membranes covering the brain and spinal cord.
Conditions involving the misuse or dependence on substances such as drugs or alcohol, leading to negative consequences on physical and mental health.
Hypolipidemias are a group of disorders characterized by low levels of lipids in the blood. This can lead to difficulties in absorbing and transporting fats, which can affect the body's ability to produce hormones and absorb fat-soluble vitamins.
These are genetic disorders that primarily affect the eyes and vision. They can cause a range of eye-related issues, including abnormalities in the structure or function of the eye, vision loss, or other visual impairments.
Hormonal imbalance refers to a disruption in the normal levels of hormones in the body, which can lead to various health problems.
Cancer that affects the lymphatic system, which is part of the body's immune system.
Non-syndromic endocrine genetic diseases
This subcategory refers to genetic disorders that primarily affect the endocrine system without causing additional physical or developmental abnormalities.
A group of genetic disorders characterized by the presence of cysts in the kidneys, which can lead to kidney enlargement and impaired kidney function.
Parasitic infections caused by single-celled organisms called protozoa, which can affect various organs and systems in the body.
Abnormalities in the components of blood, such as red blood cells, white blood cells, or platelets.
A condition characterized by the excessive and problematic consumption of alcohol, leading to negative consequences on physical and mental health.
Disorders that affect the skin, including conditions like eczema, psoriasis, and acne.
Genetic conditions that affect the heart and blood vessels.
The most common type of breast cancer, where cancer cells invade the surrounding breast tissue from the milk ducts.
These are genetic disorders that affect the mitochondria, which are responsible for producing energy in cells. These disorders can lead to a wide range of symptoms, including muscle weakness, organ dysfunction, and neurological problems.
Genetic diseases that are caused by a mutation in a gene on the X chromosome, and the presence of two mutated genes is necessary to cause the disease, primarily affecting males.
Disorders that disrupt the normal functioning of the pituitary gland, resulting in hormonal abnormalities.
Skin disorders characterized by inflammation, such as eczema, psoriasis, or rosacea.
Refers to the impairment or abnormal functioning of specific organs in the body, often due to metabolic disorders. This can include dysfunction of organs such as the liver, kidneys, heart, or brain.
This subcategory includes genetic diseases that primarily affect the skin, leading to various skin abnormalities or conditions.
A disorder where the pituitary gland does not produce enough hormones, resulting in various hormonal deficiencies.
Disorders that affect the ear, including hearing loss, ear infections, and balance disorders.
Rare diseases that occur when the immune system mistakenly attacks healthy cells and tissues in the body.
Disorders that affect the skin, such as eczema, psoriasis, or acne.
Conditions that affect the adrenal glands, which produce hormones such as cortisol and adrenaline.
These are a group of rare genetic disorders that affect the body's ability to break down certain amino acids and fatty acids, leading to a buildup of organic acids. This can cause a range of symptoms and complications.
Disorders that affect the optic nerve due to mitochondrial dysfunction, leading to vision loss and other visual impairments.
A disorder that affects the heart's electrical system, causing abnormal heart rhythms and an increased risk of fainting or sudden cardiac arrest.
This is the most common type of ovarian cancer and it starts in the cells on the surface of the ovary.
These are genetic disorders that affect the immune system, leading to a weakened or impaired ability to fight off infections and diseases.
Genetic disorders that impact the endocrine system, which is responsible for regulating hormones and metabolism.
Conditions affecting the reproductive system, including hormonal imbalances and fertility issues.
Congenital reproductive genetic diseases
Congenital disorders are genetic disorders that are present at birth and are often caused by abnormalities in genes or chromosomes.
Immunodeficiencies that primarily affect the production or function of antibodies, leading to increased susceptibility to infections.
An inherited form of anemia characterized by abnormally shaped red blood cells that can get stuck in blood vessels, leading to pain and organ damage.
Inflammation of the membranes surrounding the brain and spinal cord, often caused by a bacterial or viral infection.
T cells are a type of white blood cell that play a crucial role in the immune response. Deficiencies in T cells can lead to an impaired immune system and an increased risk of infections.
Diseases refer to abnormal conditions or disorders that affect the normal functioning of the body, often causing physical or mental harm.
Mitochondrial myopathy refers to a group of mitochondrial diseases that primarily affect the muscles. It can cause muscle weakness, exercise intolerance, and other symptoms related to muscle function.
A group of genetic disorders characterized by dry, scaly skin due to a defect in the skin's ability to shed dead cells properly.
Genetic rare diseases that affect the heart and blood vessels, leading to abnormalities in the structure or function of the cardiovascular system.
Chronic obstructive pulmonary disease is a progressive lung disease characterized by airflow limitation and difficulty breathing.
Conditions characterized by excessive production or release of certain hormones by the pituitary gland.
A disease that weakens and enlarges the heart muscle, making it harder for the heart to pump blood.
Genetic disorders that primarily affect the skin, causing various skin abnormalities and conditions.
Immunodeficiencies that affect both B and T cells, resulting in compromised immune responses against infections.
Cancer that occurs in the prostate gland, a small walnut-shaped gland in males that produces seminal fluid.
Primary mitochondrial diseases are those that are caused by mutations in mitochondrial DNA or nuclear DNA that directly affect mitochondrial function.
Trisomy disorders are chromosomal disorders where there is an extra copy of a chromosome. Examples include Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), and Trisomy 13 (Patau syndrome).
Single gene genetic diseases are caused by mutations or abnormalities in a single gene. These disorders can be inherited in a Mendelian pattern, such as autosomal dominant or recessive, or can occur sporadically due to de novo mutations.
Open sores that can develop in various parts of the digestive tract.
Encompasses skin disorders characterized by inflammation of the skin, often resulting in redness, swelling, itching, and the formation of various skin lesions.
A condition that affects the peripheral nerves, causing numbness, tingling, and pain in the affected areas.
A group of disorders characterized by a significant reduction in the number of mitochondria in cells, resulting in impaired energy production.
These are genetic disorders caused by a mutation in a gene located on the X chromosome. These disorders primarily affect males, as they have only one X chromosome, while females have two. In females, the presence of a normal copy of the gene on the other X chromosome can often compensate for the mutation.
A rare neurodegenerative disorder that affects movement, balance, and coordination. It is caused by the deterioration of certain brain cells, leading to difficulties with eye movements, stiffness, falls, and cognitive impairments.
This subcategory includes skin conditions that involve the growth of abnormal cells, such as skin cancer, melanoma, and basal cell carcinoma.
High-grade brain tumors that grow rapidly and have a worse prognosis compared to lower-grade tumors.
Fungal infections that affect the skin, including conditions like tinea versicolor or jock itch.
Congenital gastrointestinal genetic disorders
Genetic disorders that affect the development and function of the gastrointestinal tract from birth.
This subcategory includes genetic diseases that primarily affect the immune system, leading to impaired immune responses or increased susceptibility to infections.
Sex chromosome disorders are chromosomal disorders that affect the sex chromosomes (X and Y). Examples include Turner syndrome (monosomy X), Klinefelter syndrome (XXY), and Triple X syndrome (XXX).
Infections that are transmitted through contact with infected blood or blood products.
This subcategory includes genetic diseases that primarily affect the skeletal system, leading to abnormalities in bone development, structure, or function.
These are infections caused by arthropod-borne viruses, which are transmitted to humans through the bites of infected mosquitoes, ticks, or other arthropods.
Disorders that affect the nervous system, including conditions like Alzheimer's disease, Parkinson's disease, and multiple sclerosis.
Genetic conditions that can lead to complications during pregnancy, such as miscarriages, stillbirths, or preterm labor.
Inflammation of the stomach and intestines, often caused by viral or bacterial infections.
Mucopolysaccharidoses are a group of rare genetic disorders that result in the accumulation of certain substances called mucopolysaccharides in the body's cells. This can lead to a variety of symptoms and complications affecting different organs and systems.
This subcategory includes genetic diseases that primarily affect the cardiovascular system, such as conditions related to the heart, blood vessels, or blood flow.
Immunodeficiency disorders that are present from birth, often due to genetic mutations affecting the immune system.
Infections caused by bacteria, which can affect various parts of the body and cause a wide range of symptoms.
Acquired immunodeficiency syndrome (aids)
AIDS is a chronic and potentially life-threatening condition caused by the human immunodeficiency virus (HIV). It weakens the immune system, making individuals more susceptible to infections and certain types of cancer.
A chronic condition that causes the skin to become dry, itchy, and inflamed, often resulting in patches of red, scaly skin.
A general term used to describe any skin disorder or disease.
Infections caused by parasites that can be transmitted between animals and humans.
These are a group of rare genetic disorders that affect the function of mitochondria, the powerhouses of the cells responsible for producing energy. This can lead to a wide range of symptoms and complications, as various organs and systems rely on energy produced by mitochondria.
A group of genetic disorders that affect the development of ectodermal structures, including the skin, hair, nails, teeth, and sweat glands.
Transient hypogammaglobulinemia of infancy (thi)
THI is a temporary condition that occurs in infants where there is a delay in the development of normal levels of immunoglobulins, particularly IgG, which can result in an increased susceptibility to infections during the first few years of life.
Fungal infections that specifically affect the nails, causing discoloration, thickening, and brittleness.
Conditions characterized by defects or damage to the cartilage and underlying bone, often resulting in pain, joint instability, and limited mobility.
Conditions that affect the kidneys, impairing their ability to filter waste products from the blood.
These are a group of rare genetic disorders that result from defects in enzymes responsible for breaking down various substances within the lysosomes, leading to a buildup of these substances and causing damage to cells and tissues.
Disorders that affect the gonads (testes in males and ovaries in females), leading to hormonal imbalances and reproductive issues.
Rare diseases that affect the body's metabolism, leading to problems with the breakdown or processing of substances such as proteins, carbohydrates, or fats.
Breast cancer that tests positive for the HER2 protein, which promotes the growth of cancer cells.
Overgrowth syndromes are a group of rare genetic disorders characterized by excessive growth and development of certain body parts or the entire body. These conditions can result in abnormal height, weight, and body proportions.
A condition characterized by a decrease in the number of red blood cells or a decrease in the amount of hemoglobin in the blood.
Rare blood cancers include less common types of cancers that affect the blood cells and bone marrow, such as hairy cell leukemia, mycosis fungoides, and chronic myelomonocytic leukemia.
Seprimary immunodeficiency disorders is a subcategory of Immunodeficiency disorders. Conditions where the immune system is weakened or impaired, making individuals more susceptible to infections.
Rare diseases that are present at birth and result from genetic or developmental abnormalities affecting the nervous system.
Disorders caused by mutations in a single gene.
Refers to bladder cancer that has grown beyond the inner lining of the bladder and has invaded deeper layers of the bladder wall or nearby tissues.
A group of rare disorders that affect multiple endocrine glands, leading to hormonal imbalances and dysfunction.
A group of lung cancers that includes adenocarcinoma, squamous cell carcinoma, and large cell carcinoma. It is the most common type of lung cancer.
Disorders that affect the respiratory system, including conditions like asthma, chronic obstructive pulmonary disease (COPD), and pneumonia.
A group of inflammatory skin disorders characterized by red, itchy, and scaly patches on the skin.
Genetic conditions that can cause infertility or reduce the ability to conceive or carry a pregnancy to term.
A condition where the gonads (testes in males, ovaries in females) do not produce enough sex hormones.
These are a group of genetic disorders that primarily affect the nervous system and are characterized by a combination of neurological and other symptoms.
Zoonotic infections that can be transmitted through the air, such as through respiratory droplets.
These are genetic disorders that are caused by mutations in genes located on the X chromosome and are typically inherited in a recessive or dominant X-linked pattern.
These are genetic disorders that affect the skeletal system, including conditions like osteogenesis imperfecta (brittle bone disease) and achondroplasia (a form of dwarfism), which can cause abnormalities in bone development and growth.
Conditions that affect the teeth, gums, and oral cavity, including cavities, gum disease, and oral infections.
Rare diseases characterized by the progressive degeneration or deterioration of the nervous system over time.
This subcategory includes genetic disorders that result in the inadequate production or functioning of specific hormones in the body.
These are rare diseases that affect the function of mitochondria, which are responsible for producing energy in cells. Mitochondrial metabolism disorders can lead to a wide range of symptoms and can affect multiple organ systems.
Rare cancer research and clinical trials
This subcategory involves conducting research studies and clinical trials specifically focused on rare cancers. The aim is to improve understanding, diagnosis, and treatment options for these less common forms of cancer.
Breast cancer that starts in the milk-producing glands (lobules) and spreads to the surrounding breast tissue.
Disorders that affect the eyes, including conditions like cataracts, glaucoma, and macular degeneration.
A type of cancer that starts in the colon or rectum, often characterized by the growth of abnormal cells in the lining of the colon.
Conditions that affect the muscles, bones, joints, and connective tissues, including arthritis, osteoporosis, and back pain.
The most common subtype of ovarian cancer, characterized by the presence of serous cells.
A group of chronic inflammatory conditions that affect the digestive tract, including Crohn's disease and ulcerative colitis.
Immunodeficiencies that specifically affect T cells, a type of white blood cell that plays a key role in coordinating the immune response.
A condition characterized by high levels of cholesterol in the blood, which can increase the risk of heart disease.
These are genetic disorders that affect the function of lysosomes, which are responsible for breaking down and recycling cellular waste. In these diseases, substances that would normally be broken down and eliminated accumulate in the lysosomes, leading to a wide range of symptoms depending on the specific disease.
Excessive levels of the hormone prolactin, which can disrupt normal reproductive function.
A group of diseases characterized by the uncontrolled growth and spread of abnormal cells.
A condition where the heart is unable to pump enough blood to meet the body's needs.
Infections that are transmitted to humans through the bite of infected arthropods, such as mosquitoes, ticks, or fleas.
Refers to skin conditions that are inherited or caused by genetic mutations, leading to abnormalities in the structure or function of the skin.
Disorders caused by mutations in genes on the X chromosome, where males are more commonly affected due to having only one X chromosome.
A condition characterized by the compulsive use of drugs, despite negative consequences and the desire to quit.
These are inherited rare diseases that occur when a person inherits a mutated gene on the X chromosome from both parents. As males have only one X chromosome, they are more commonly affected by X-linked recessive diseases than females.
A bacterial infection caused by Mycobacterium tuberculosis, primarily affecting the lungs but can also spread to other parts of the body.
Glycolipid metabolism disorders are genetic disorders that affect the body's ability to break down and utilize glycolipids, which are a type of lipid involved in cell membrane structure and function. These disorders can lead to the accumulation of glycolipids in various tissues and organs.
Disorders that affect the nose, including conditions like sinusitis, allergies, and nasal polyps.
A rare primary immunodeficiency disorder characterized by recurrent infections, high levels of immunoglobulin E (IgE), and various other symptoms.
Genetic conditions that primarily affect the nervous system, including the brain, spinal cord, and nerves.
Cancer that starts in the colon or rectum, often beginning as a growth called a polyp.
Disorders that affect the heart and blood vessels, including conditions like heart disease and stroke.
Diseases that are passed down from parents to their children through genes.
A group of genetic disorders that cause muscle weakness and wasting from birth or early infancy, often affecting the muscles used for movement and breathing.
Genetic disorders affecting the nervous system
Disorders caused by abnormalities or mutations in genes that affect the development or functioning of the nervous system.
A condition characterized by excessive production of one or more pituitary hormones, leading to various health problems.
Disorders that affect the body's metabolism, such as diabetes, obesity, and metabolic syndrome.
This subcategory includes genetic diseases that primarily affect the blood and blood-forming tissues, leading to abnormalities in blood cell production or function.
Conditions that affect the reproductive organs, including infertility, menstrual disorders, and sexually transmitted infections.
Low-grade brain tumors that grow slowly and have a better prognosis compared to higher-grade tumors.
Genetic disorders that impact the gonads, which are the reproductive organs responsible for producing sex hormones and gametes.
Sesevere combined immunodeficiency (scid)
Sesevere combined immunodeficiency (scid) is a subcategory of Immunodeficiency genetic diseases. These are genetic disorders that affect the immune system, leading to a weakened or impaired ability to fight off infections and diseases.
Fungal infections that typically occur in individuals with weakened immune systems, such as those with HIV/AIDS or undergoing chemotherapy.
Inflammation of one or more joints, causing pain, stiffness, and swelling.
Conditions that result from abnormalities or mutations in genes, often leading to physical or developmental abnormalities.
A group of disorders characterized by the immune system attacking and destroying blood cells, leading to low blood cell counts.
These are genetic disorders that affect the body's ability to process or break down certain substances, such as carbohydrates, proteins, or fats. This can result in a buildup of toxic substances or a deficiency of essential molecules, leading to various health problems.
Disorders that affect the muscles and/or the nerves that control them, often caused by genetic mutations.
Refers to skin infections caused by dermatophytes, which are a group of fungi that can invade and grow on the skin, hair, or nails.
Breast cancer that is confined to the breast and has not spread to other parts of the body.
Lipid metabolism disorders are a group of genetic disorders that affect the body's ability to break down and utilize fats, leading to abnormal levels of lipids in the blood and tissues.
A condition where the adrenal glands do not produce enough hormones.
Monosomy disorders are chromosomal disorders where there is a loss of one copy of a chromosome. Examples include Turner syndrome (monosomy X) and Cri du Chat syndrome (deletion of part of chromosome 5).
Disorders that affect the pituitary gland, often leading to hormonal imbalances and various health problems.
Skin disorders that arise from an overactive immune system attacking healthy skin cells, such as lupus or pemphigus.
A group of metabolic disorders characterized by high blood sugar levels, resulting from either insufficient insulin production or the body's inability to effectively use insulin.
Rare conditions that affect the aorta, the main artery that carries blood from the heart to the rest of the body.
Abnormalities in the blood, such as disorders of red blood cells, white blood cells, or platelets.
A group of skin disorders characterized by the formation of blisters or bullae on the skin.
Genetic diseases that are caused by a mutation in both copies of an autosomal gene, and the presence of two mutated genes is necessary to cause the disease.
These are genetic disorders caused by a mutation in a single gene located on one of the autosomes (non-sex chromosomes). Inheritance of the mutated gene from both parents is necessary to cause the disorder.
This is a rare genetic disorder that affects the white matter of the brain, leading to progressive neurological symptoms.
These are inherited rare diseases that occur when a person inherits a mutated gene from one parent. The presence of just one copy of the mutated gene is enough to cause the disease.
Enzyme deficiencies are genetic disorders that result in the body's inability to produce or utilize certain enzymes, leading to difficulties in breaking down and metabolizing specific substances.
Conditions that affect a small percentage of the population, often characterized by complex symptoms and limited treatment options.
Autoimmune disorders that target specific organs or tissues.
Organic acid metabolism disorders are a group of genetic disorders that affect the body's ability to break down certain organic acids, leading to a buildup of these acids in the blood and tissues.
Autoimmune disorders that affect the endocrine system, leading to hormonal imbalances and dysfunction.
Chronic obstructive pulmonary disease (copd)
A progressive lung disease that causes airflow obstruction, making it difficult to breathe. It includes conditions such as chronic bronchitis and emphysema.
Cancer that forms in the cells of the breasts, typically in the ducts or lobules.
Inflammation of the glomeruli, which are tiny filters in the kidneys that help remove waste and excess fluid from the blood.
This subcategory includes genetic diseases that primarily affect the body's metabolism, leading to abnormalities in the processing or breakdown of certain substances, such as carbohydrates, proteins, or fats.
Cancer that begins in the lungs, usually in the cells lining the air passages.
Genetic diseases that are caused by a mutation in a gene on the X chromosome, and the presence of the mutated gene is sufficient to cause the disease in both males and females.
These disorders occur when the pituitary gland does not produce enough hormones, leading to various hormonal imbalances and deficiencies.
A group of genetic disorders that affect bone and cartilage development, leading to abnormal growth and skeletal deformities.
These are inherited rare diseases that occur when a person inherits a mutated gene on the X chromosome from one parent. The presence of just one copy of the mutated gene can cause the disease, regardless of the presence of a normal gene on the other X chromosome.
A condition where the body lacks or produces very low levels of immunoglobulin A (IgA), resulting in increased susceptibility to infections, particularly in the respiratory and gastrointestinal tracts.
This category includes disorders where multiple components of the immune system are affected, leading to a severe impairment in immune function.
Infections caused by viruses that can be transmitted between animals and humans.
Disorders characterized by excessive secretion of hormones by the pituitary gland, leading to hormonal imbalances and associated health issues.
Partial or complete loss of hearing, which can be caused by various factors such as age, noise exposure, infections, or genetic conditions.
Long-term conditions that often progress slowly and may require ongoing management, such as diabetes or arthritis.
Parasitic infections caused by various types of worms, including roundworms, tapeworms, and flukes, which can affect different organs and systems.
Rare types of cancer that occur infrequently and may have unique characteristics or treatment challenges compared to more common forms of cancer.
Refers to a wide range of conditions that affect the musculoskeletal system, including fractures, sprains, strains, and deformities.
A group of genetic disorders that cause progressive weakness and loss of muscle mass.
Rare diseases that primarily affect the nervous system, including the brain, spinal cord, and nerves, leading to various neurological symptoms and impairments.
These are sleep disorders characterized by disruptions in the body's internal clock, leading to difficulties in falling asleep or waking up at the desired times.
These are genetic disorders caused by abnormalities in the structure or number of chromosomes in a person's cells.
Infections caused by parasites, which can affect various organs and systems in the body.
Phagocytic cells, such as neutrophils and macrophages, are responsible for engulfing and destroying pathogens. Deficiencies in these cells can lead to recurrent infections.
Inflammation or infection of the ear, often causing pain, fluid buildup, and hearing difficulties.
Abnormal growths or masses that develop in the adrenal glands, which can be benign or malignant.
A type of lymphoma that originates in the lymphocytes, which are a type of white blood cell.
Rare skin cancers refer to uncommon types of cancers that develop in the skin, including conditions like Merkel cell carcinoma, sebaceous carcinoma, and dermatofibrosarcoma protuberans.
A more advanced form of gum disease that affects the tissues and structures supporting the teeth, leading to bone loss and potential tooth loss.
These infections are caused by viruses that affect the skin, causing conditions such as herpes simplex, shingles, and warts.
Inflammation of the nasal passages, often resulting in symptoms like sneezing, runny nose, and congestion.
Infections that affect the skin, subcutaneous tissue, or underlying structures, causing conditions like cellulitis, abscesses, or impetigo.
Disorders that affect the development of the nervous system, leading to cognitive, motor, or behavioral impairments.
Support and advocacy for rare cancer patients
This subcategory focuses on providing support, resources, and advocacy for individuals diagnosed with rare cancers. It may include support groups, patient navigation services, and initiatives to improve access to care and treatment options.
Conditions that affect a person's emotional, psychological, and social well-being, including depression, anxiety, and schizophrenia.
Infections caused by bacteria that can be transmitted between animals and humans.
Disorders that affect the gastrointestinal tract, including conditions like gastritis, gastroenteritis, and inflammatory bowel disease.
Genetic disorders that affect the structure or production of hemoglobin, the protein responsible for carrying oxygen in red blood cells. This includes conditions like sickle cell disease and thalassemia.
A rapid loss of hearing that occurs within a short period of time, often without any apparent cause.
Refers to skin conditions characterized by the formation of vesicles or bullae, which are fluid-filled blisters on the skin.
Immunodeficiencies that involve defects in phagocytic cells, which are responsible for engulfing and destroying pathogens.
B cell deficiencies refer to immunodeficiency disorders that are characterized by a dysfunction or deficiency in B cells, which are responsible for producing antibodies.
A general term for a decline in cognitive ability, memory, and thinking skills that interfere with daily life.
Genetic disorders that primarily affect the kidneys, leading to impaired kidney function and potential complications.
These are infections caused by fungi that can occur in individuals with compromised immune systems, such as those with HIV/AIDS or undergoing immunosuppressive therapy.
A genetic disorder characterized by the development of numerous polyps in the colon and rectum.
Pain or irritation in the throat, often caused by viral or bacterial infections.
This category includes genetic disorders that primarily affect the respiratory system, such as cystic fibrosis, which causes the production of thick mucus in the lungs, leading to breathing difficulties and other complications.
A genetic disorder where fluid-filled cysts develop in the kidneys, leading to their enlargement and eventual loss of function.
Illnesses caused by pathogens such as bacteria, viruses, fungi, or parasites that can be transmitted from person to person.
A rare genetic disorder that affects multiple systems in the body, including the immune system. It is characterized by progressive neurological problems, blood vessel abnormalities, and increased susceptibility to infections.
A condition characterized by a low platelet count, which can result in excessive bleeding or easy bruising.
Hyperlipidemias are a group of disorders characterized by high levels of lipids (such as cholesterol and triglycerides) in the blood. This can increase the risk of developing cardiovascular diseases.
A group of rare genetic disorders that result in a severe impairment of the immune system. It is characterized by a lack of functional T cells and B cells, leading to a high susceptibility to life-threatening infections.
Conditions that affect the muscles, bones, joints, and connective tissues, such as arthritis and osteoporosis.
A condition where stomach acid flows back into the esophagus, causing symptoms like heartburn.
These are infections that are transmitted to humans through the bites of infected mosquitoes. Mosquitoes can carry and transmit a wide range of pathogens, including viruses, bacteria, and parasites.
Conditions that affect the throat, including conditions like sore throat, tonsillitis, and laryngitis.
A mood disorder characterized by extreme shifts in mood, energy levels, and activity levels.
Infections caused by fungi, which can affect the skin, nails, respiratory system, or internal organs.
A condition characterized by dysfunction or damage to the brain, leading to various neurological symptoms.
Secondary mitochondrial diseases are those that are caused by external factors, such as certain medications or toxins, that impair mitochondrial function.
A group of disorders characterized by a reduction in the amount of mitochondrial DNA (mtDNA) in cells, leading to impaired mitochondrial function.
Disorders that affect the body's ability to properly metabolize cholesterol, leading to abnormal levels of cholesterol in the blood and tissues.
Rare cancers that develop in the connective tissues of the body, including muscles, bones, tendons, and cartilage.
Growth hormone disorders are conditions that affect the production or function of growth hormone, which is responsible for regulating growth and development in the body.
Spinal muscular atrophy (SMA) is a genetic disorder characterized by the loss of specialized nerve cells called motor neurons in the spinal cord and brainstem. This leads to muscle weakness and atrophy, affecting the ability to control movement.
This subcategory includes conditions that affect the coloration of the skin, such as vitiligo, melasma, and hyperpigmentation disorders.
A type of brain tumor that develops from cells called astrocytes.
The inability to conceive after a year of regular unprotected intercourse, or the inability to carry a pregnancy to term.
Disruptions in the normal levels or ratios of reproductive hormones, which can affect fertility and reproductive health.
Disorders that affect the kidneys, including conditions like chronic kidney disease, kidney stones, and kidney infections.
Describes skin conditions characterized by the presence of papules (small raised bumps) and scales, often associated with inflammation and shedding of the skin.
A chromosomal abnormality where a portion of a chromosome is missing or deleted, leading to various genetic disorders and developmental issues.
Inadequate production or release of hormones by the pituitary gland, often leading to hormonal deficiencies.
These are inherited rare diseases that occur when a person inherits two copies of a mutated gene, one from each parent. Both copies of the gene must be mutated for the disease to manifest.
Conditions that affect the endocrine system, which produces hormones that regulate various bodily functions.
These are infections that are transmitted to humans from animals through the bites of infected vectors, such as mosquitoes or ticks. These infections can be caused by a wide range of pathogens and can have significant public health implications.
Conditions that affect the thyroid gland, which produces hormones that regulate metabolism, growth, and development.
Inflammation of the pharynx, resulting in a sore throat and difficulty swallowing.
A group of skin disorders characterized by the presence of lichenoid eruptions on the skin.
Disorders characterized by the abnormal accumulation of lipids in various tissues and organs, leading to impaired function.
Breast cancer that has spread from the ducts or lobules to nearby tissues in the breast.
A group of genetic disorders that affect bone development and growth, resulting in various skeletal abnormalities.
Genetic diseases that are caused by mutations in the DNA of mitochondria, the energy-producing structures within cells.
Rare infectious diseases caused by parasitic organisms. These diseases can be caused by various types of parasites, such as protozoa or helminths, and can affect different organs or systems in the body.
Hearing loss caused by damage to the inner ear or the auditory nerve, often resulting in difficulty hearing sounds at different frequencies.
This subcategory includes rare diseases that affect the body's ability to process or transport fats, leading to the accumulation of lipids in various tissues and organs.
Genetic disorders that affect the blood and blood-forming tissues, leading to abnormalities in red blood cells, white blood cells, or platelets.
Conditions that interfere with normal growth and development, often caused by hormonal imbalances.
These are rare genetic disorders that increase an individual's risk of developing certain types of cancer. They are caused by mutations in specific genes that are involved in regulating cell growth and division.
A form of dermatitis that develops when the skin comes into direct contact with an irritant or allergen, leading to redness, itching, and sometimes blisters.
Organ-specific metabolic genetic diseases
Rare infectious diseases caused by viral pathogens. These diseases can have a wide range of symptoms and can affect various body systems. Treatment options for viral infections may vary depending on the specific virus involved.
Abnormal heart rhythms that can cause the heart to beat too fast, too slow, or irregularly.
Genetic rare diseases that primarily affect the bones, joints, and connective tissues, leading to abnormalities in skeletal development, structure, or function.
Rare genetic disorders are genetic disorders that occur infrequently in the population.
Rare diseases caused by uncommon pathogens or infections that may have atypical symptoms or require specialized treatment approaches.
Refers to prostate cancer that has spread beyond the prostate gland to nearby tissues or other parts of the body.
These are rare diseases that are passed down from parents to their children through genetic mutations or abnormalities.
This subcategory includes genetic diseases that primarily affect the development and function of the nervous system, leading to various neurological or developmental abnormalities.
Conditions that affect the structure and function of the kidneys, leading to impaired filtration and regulation of waste products in the body.
Disorders that disrupt the normal functioning of the adrenal glands, resulting in hormonal abnormalities.
A group of genetic disorders that affect both the nervous system and the skin, causing various neurological and dermatological abnormalities.
Describes prostate cancer that has returned or reappeared after initial treatment, even if it was previously considered cured or in remission.
Disorders characterized by a combination of physical and developmental abnormalities, often caused by genetic mutations.
A condition where plaque builds up in the arteries, narrowing them and restricting blood flow.
Rare diseases that result from abnormalities in the body's metabolic processes, leading to dysfunction in the nervous system.
Abnormalities in the menstrual cycle, such as heavy or prolonged periods, irregular periods, or absence of menstruation.
Characterized by a prolonged and intense feeling of sadness or low mood, often accompanied by feelings of hopelessness, worthlessness, or emptiness.
Refers to conditions where the adrenal glands produce excessive amounts of hormones, leading to various symptoms and health problems.
Mental health conditions that involve unhealthy eating habits and distorted body image, such as anorexia nervosa, bulimia nervosa, and binge eating disorder.
These are genetic conditions that can lead to difficulties in conceiving or carrying a pregnancy to term.
Refers to bladder cancer that is confined to the inner lining of the bladder and has not invaded deeper layers of the bladder wall or nearby tissues.
This subcategory includes genetic disorders that affect the endocrine system along with other organ systems, resulting in a combination of symptoms and features characteristic of a specific syndrome.
Refers to prostate cancer that grows and spreads quickly, often requiring more aggressive treatment approaches.
Infections that are transmitted through sexual contact, causing conditions such as chlamydia, gonorrhea, or HIV.
Conditions where the immune system is weakened or impaired, making individuals more susceptible to infections.
PCOS is a hormonal disorder that affects women of reproductive age. It is characterized by the presence of multiple cysts on the ovaries, irregular menstrual cycles, and high levels of androgens (male hormones). PCOS can lead to fertility problems, weight gain, and other health issues.
Breast cancer that lacks estrogen receptors, progesterone receptors, and HER2 protein.
Disorders that affect the digestive system, including conditions like irritable bowel syndrome, ulcers, and inflammatory bowel disease.
Cancer of the blood or bone marrow, characterized by the overproduction of abnormal white blood cells.
This subcategory includes genetic diseases that primarily affect the eyes and vision, leading to various eye-related abnormalities or conditions.
Mitochondrial diseases that are passed down from parents to their children through genetic mutations.
Diseases characterized by the progressive degeneration and loss of nerve cells in the brain or other parts of the nervous system.
HPV is a sexually transmitted infection that can cause genital warts and various types of cancers, including cervical, anal, and throat cancer. It is one of the most common STIs worldwide.
Streptococcal infections are caused by the bacteria Streptococcus pyogenes and can cause various illnesses, including strep throat, scarlet fever, and invasive infections such as cellulitis and necrotizing fasciitis.
These are inherited rare diseases that are caused by mutations in the DNA of mitochondria, the energy-producing structures within cells. These diseases can affect various organs and systems in the body.
A mood disorder characterized by persistent feelings of sadness, loss of interest or pleasure, and a lack of motivation.
Tumors that originate from glial cells, which provide support and protection to neurons in the brain.
Disorders that affect the metabolism of lipoproteins, which are responsible for transporting lipids in the bloodstream.
Acute gastroenteritis refers to inflammation of the stomach and intestines, typically caused by a viral or bacterial infection. It is characterized by symptoms such as diarrhea, vomiting, abdominal pain, and sometimes fever.
Immunodeficiencies that specifically affect B cells, leading to reduced antibody production and increased susceptibility to infections.
These are rare genetic disorders that affect the body's ability to break down and process amino acids, the building blocks of proteins. This can lead to a buildup of toxic substances or a deficiency of essential amino acids.
Fungal infections that spread throughout the body, affecting multiple organs and systems, often occurring in individuals with weakened immune systems.
A chronic condition characterized by inflammation and narrowing of the airways, leading to recurring episodes of wheezing, coughing, chest tightness, and shortness of breath.
Pediatric cancers are rare cancers that specifically occur in children and adolescents, including various types such as neuroblastoma, Wilms tumor, and rhabdomyosarcoma.
Dementia that occurs before the age of 65, often associated with genetic factors and can include various subtypes such as Alzheimer's disease or frontotemporal dementia.
Abnormal growths or masses that develop in the pituitary gland, which can cause hormonal imbalances and other symptoms.
Genetic disorders affecting reproductive organs
Genetic conditions that specifically impact the structure or function of the reproductive organs, such as the uterus, ovaries, fallopian tubes, or testes.
Also known as eczema, it is a chronic condition characterized by dry, itchy, and inflamed skin.
Familial thoracic aortic aneurysm and dissection
A genetic condition that causes the aorta in the chest to become weakened and prone to aneurysms or dissections.
Fatty acid metabolism disorders are genetic disorders that affect the body's ability to break down and utilize fatty acids, leading to an accumulation of fatty acids in the blood and tissues.
Retinal dystrophies are a group of genetic disorders that affect the retina, the light-sensitive tissue at the back of the eye. They can cause progressive vision loss and may lead to conditions such as retinitis pigmentosa or macular degeneration.
Cancer that originates in the brain or spreads to the brain from other parts of the body.
This subcategory includes genetic diseases that primarily affect the kidneys, leading to abnormalities in kidney function or structure.
Inflammation of the bronchial tubes, which carry air to and from the lungs. It can be acute (short-term) or chronic (long-term) and is often associated with coughing and mucus production.
Viral infections that specifically affect the genital area, including sexually transmitted infections such as herpes, human papillomavirus (HPV), and HIV.
Gastrointestinal inherited rare diseases
These are inherited rare diseases that primarily affect the digestive system, including the esophagus, stomach, intestines, liver, and pancreas. These disorders can cause a range of symptoms, such as abdominal pain, diarrhea, constipation, and malabsorption of nutrients.
Conditions where the pituitary gland fails to produce adequate amounts of specific hormones, resulting in hormonal imbalances and related symptoms.
A chromosomal abnormality where an individual has three copies of a particular chromosome instead of the usual two. The most well-known example is Down syndrome, which is caused by an extra copy of chromosome 21. Trisomy can result in developmental delays, intellectual disabilities, and other health issues.
Disorders that affect the gallbladder, such as gallstones or inflammation.
Disorders caused by abnormalities or mutations in genes, which can be inherited or occur spontaneously.
General term for various conditions affecting the heart.
Infections that can be transmitted between animals and humans, causing conditions such as rabies, Lyme disease, or avian influenza.
Conditions characterized by a lack of production or release of certain hormones by the pituitary gland.
Conditions where the immune system mistakenly attacks healthy cells and tissues in the body.
Food poisoning refers to illness caused by consuming contaminated food or water. It can be caused by various bacteria, viruses, parasites, or toxins produced by microorganisms. Symptoms of food poisoning can include nausea, vomiting, diarrhea, abdominal pain, and fever.
A group of disorders characterized by the progressive degeneration of nerve cells, leading to functional and structural changes in the brain.
A rare type of colorectal cancer that develops in the connective tissues, such as muscles or blood vessels, of the colon or rectum.
Developmental neurological genetic diseases
Genetic diseases that affect the normal growth and development of an individual, often leading to physical, cognitive, or behavioral impairments.
A condition where the kidneys are unable to adequately filter waste and excess fluid from the blood, leading to a buildup of toxins in the body.