Mitochondrial leigh syndrome
type: Class
comment: A severe neurological disorder that typically begins in infancy or early childhood, characterized by progressive loss of motor and cognitive abilities.
subclass of: Neurodegenerative diseases
subclass of: Mitochondrial genetic diseases
subclass of: Mitochondrial depletion syndromes
subclass of: Primary mitochondrial diseases
subclass of: Oxidative phosphorylation disorders
subclass of: Inborn errors of metabolism
subclass of: Organ-specific metabolic genetic diseases
subclass of: Mitochondrial neurological genetic diseases
subclass of: Developmental neurological genetic diseases
subclass of: Syndromic inherited rare diseases
subclass of: Neuromuscular rare diseases
subclass of: Congenital neurological rare diseases
subclass of: Degenerative neurological rare diseases
subclass of: Genetic neurological rare diseases
subclass of: Metabolic neurological rare diseases

Adrenal pheochromocytoma
type: Class
comment: A tumor that develops in the adrenal glands and produces excessive amounts of adrenaline and noradrenaline hormones.
subclass of: Hormone overproduction
subclass of: Adrenal tumors

Valvular heart disease
type: Class
comment: Conditions that affect the valves of the heart, causing them to not function properly.
subclass of: Heart disease

Aplastic anemia
type: Class
comment: A rare condition where the bone marrow fails to produce enough new blood cells.
subclass of: Anemia
subclass of: Rare diseases

Anorexia nervosa
type: Class
comment: An eating disorder characterized by an intense fear of gaining weight, leading to severe restriction of food intake and a distorted body image.
subclass of: Eating disorders
subclass of: Nutritional disorders

Obsessive-compulsive disorder (ocd)
type: Class
comment: 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.
subclass of: Mental health disorders

Osteoporosis
type: Class
comment: Condition characterized by low bone density and increased risk of fractures.
subclass of: Musculoskeletal disorders

Recurrent bladder cancer
type: Class
comment: Refers to bladder cancer that has returned after treatment or a period of remission.
subclass of: Bladder cancer

Ankylosing spondylitis
type: Class
comment: An inflammatory arthritis that primarily affects the spine, causing pain and stiffness in the back and neck.
subclass of: Autoimmune diseases
subclass of: Arthritis
subclass of: Orthopedic conditions

Sudden sensorineural hearing loss
type: Class
comment: Rapid onset of sensorineural hearing loss, often occurring within a few days and of unknown cause.
subclass of: Sensorineural hearing loss
subclass of: Sudden hearing loss

Arr hypertrophic cardiomyopathy
type: Class
comment: A genetic subtype of hypertrophic cardiomyopathy, a condition where the heart muscle becomes abnormally thickened.
subclass of: Cardiovascular genetic diseases
subclass of: Cardiomyopathy

Seasonal affective disorder
type: Class
comment: 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.
subclass of: Depression

Psoriatic dermatosis
type: Class
comment: A chronic autoimmune skin disorder characterized by the presence of red, scaly patches on the skin.
subclass of: Autoimmune skin diseases
subclass of: Papulosquamous dermatosis

Congenital hearing loss
type: Class
comment: Hearing loss that is present at birth and can be caused by genetic factors or prenatal conditions.
subclass of: Hearing loss

Sc severe combined immunodeficiency (scid)
type: Class
comment: 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.
subclass of: T cell deficiency disorders
subclass of: Combined immunodeficiencies

Cannabis use disorder
type: Class
comment: A condition involving the problematic use of cannabis, leading to impaired functioning and negative effects on various aspects of life.
subclass of: Drug addiction

Stasis dermatitis
type: Class
comment: Dermatitis that occurs due to poor circulation, often seen in the lower legs, resulting in swollen, itchy, and discolored skin.
subclass of: Dermatitis
subclass of: Vascular dermatosis
subclass of: Inflammatory dermatosis

Nasal polyps
type: Class
comment: Noncancerous growths that develop in the lining of the nasal passages or sinuses.
subclass of: Nasal disorders

Viral hemorrhagic fevers
type: Class
comment: 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.
subclass of: Viral zoonotic infections
subclass of: Viral rare infectious diseases

Hyperlipidemia
type: Class
comment: High levels of fats (lipids) in the blood, including cholesterol and triglycerides.
subclass of: Blood disorders
subclass of: Cholesterol metabolism disorders

X ataxia-telangiectasia (a-t)
type: Class
comment: A progressive neurodegenerative disorder that affects multiple systems in the body, including the immune system, leading to immunodeficiency and increased risk of infections.
subclass of: Primary immunodeficiency disorders
subclass of: Chromosomal disorders
subclass of: Congenital immunodeficiency disorders
subclass of: X-linked neurological genetic diseases
subclass of: Developmental neurological genetic diseases
subclass of: Syndromic inherited rare diseases
subclass of: Rare neurodevelopmental disorders
subclass of: Neuromuscular rare diseases
subclass of: Congenital neurological rare diseases
subclass of: Degenerative neurological rare diseases
subclass of: Genetic neurological rare diseases

Diffuse large b-cell lymphoma
type: Class
comment: The most common type of non-Hodgkin lymphoma, characterized by rapidly growing B-cells.
subclass of: Non-hodgkin lymphoma

Autoimmune thrombocytopenic purpura
type: Class
comment: A condition in which the immune system mistakenly destroys platelets, resulting in low platelet counts and an increased risk of bleeding.
subclass of: Thrombocytopenia
subclass of: Autoimmune cytopenias

Congenital adrenal hyperplasia
type: Class
comment: A group of genetic disorders that affect the adrenal glands, leading to a deficiency in certain hormones.
subclass of: Adrenal hyperplasia
subclass of: Syndromic endocrine genetic diseases
subclass of: Enzyme deficiencies
subclass of: Organ-specific metabolic genetic diseases
subclass of: Autosomal recessive disorders
subclass of: Monogenic metabolic disorders
subclass of: Organ-specific metabolic rare diseases

Melasma
type: Class
comment: A common skin condition characterized by dark patches or discoloration on the face, often occurring during pregnancy or due to hormonal changes.
subclass of: Pigmentary skin diseases

Congenital muscular dystrophy
type: Class
comment: A group of genetic disorders that cause muscle weakness and wasting from birth or early infancy.
subclass of: Congenital myopathies
subclass of: Autosomal recessive rare diseases

Von willebrand disease
type: Class
comment: A genetic disorder that affects the blood's ability to clot properly, leading to excessive bleeding or prolonged bleeding time.
subclass of: Blood disorders
subclass of: Rare genetic disorders

Hypertensive heart disease
type: Class
comment: Heart conditions caused by high blood pressure.
subclass of: Heart disease
subclass of: Hypertension

Osteoarthritis
type: Class
comment: Degenerative joint disease that occurs when the protective cartilage on the ends of bones wears down over time.
subclass of: Arthritis
subclass of: Orthopedic conditions

High-grade serous carcinoma
type: Class
comment: The most common and aggressive subtype of ovarian cancer.
subclass of: Epithelial ovarian cancer
subclass of: Serous ovarian cancer

Mitochondrial myopathy with neuropathy
type: Class
comment: This mitochondrial disease is characterized by muscle weakness and peripheral neuropathy, which is damage to the nerves outside of the brain and spinal cord.
subclass of: Secondary mitochondrial diseases
subclass of: Mitochondrial myopathy
subclass of: Mitochondrial neurological genetic diseases
subclass of: Neuromuscular rare diseases
subclass of: Metabolic neurological rare diseases

Metastatic breast cancer
type: Class
comment: Breast cancer that has spread to other parts of the body, such as the bones, liver, lungs, or brain.
subclass of: Breast cancer

Mitochondrial myopathy with ataxia
type: Class
comment: This is a mitochondrial disease characterized by muscle weakness and ataxia, which is a lack of coordination and balance.
subclass of: Mitochondrial myopathy
subclass of: Mitochondrial neurological genetic diseases
subclass of: Neurogenetic syndromes
subclass of: Syndromic inherited rare diseases
subclass of: Neuromuscular rare diseases
subclass of: Metabolic neurological rare diseases

Prolactinoma
type: Class
comment: A type of pituitary tumor that causes excessive production of the hormone prolactin, leading to abnormal milk production and menstrual irregularities.
subclass of: Pituitary tumors
subclass of: Hyperprolactinemia

Polycystic ovarian disease
type: Class
comment: 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.
subclass of: Infertility
subclass of: Chronic diseases
subclass of: Polycystic ovaries

Systemic dental diseases
type: Class
comment: Dental diseases that are associated with or caused by underlying systemic conditions, such as diabetes or autoimmune disorders.
subclass of: Dental diseases

Rare brain cancers
type: Class
comment: Rare brain cancers refer to less common types of cancers that specifically affect the brain, such as oligodendroglioma, pineal region tumor, and chordoma.
subclass of: Brain cancer
subclass of: Uncommon cancers

Neurological autoimmune rare diseases
type: Class
comment: Autoimmune disorders that affect the nervous system, leading to inflammation and damage to nerve cells.
subclass of: Autoimmune rare diseases
subclass of: Neurological rare diseases

Clostridium difficile infection
type: Class
comment: 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.
subclass of: Gastrointestinal infections
subclass of: Bacterial infections

Chronic progressive external ophthalmoplegia (cpeo)
type: Class
comment: CPEO is a mitochondrial disorder that primarily affects the muscles that control eye movement, leading to weakness and paralysis of these muscles.
subclass of: Primary mitochondrial diseases
subclass of: Mitochondrial depletion syndromes
subclass of: Neurogenetic syndromes
subclass of: Neurodegenerative rare diseases
subclass of: Neuromuscular rare diseases

Persistent depressive disorder
type: Class
comment: A chronic form of depression that lasts for at least two years and is characterized by a depressed mood most of the time.
subclass of: Depression

Stromal cell ovarian cancer
type: Class
comment: Ovarian cancers that develop from the connective tissue cells that support the ovaries.
subclass of: Ovarian cancer

Peripheral artery disease
type: Class
comment: A condition where the arteries that supply blood to the limbs become narrowed or blocked, leading to reduced blood flow.
subclass of: Cardiovascular diseases

Hypothyroidism
type: Class
comment: A condition in which the thyroid gland does not produce enough thyroid hormones, leading to a slowed metabolism.
subclass of: Hormonal imbalance
subclass of: Metabolic disorders
subclass of: Chronic diseases
subclass of: Thyroid disorders

Bloodstream infections
type: Class
comment: 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.
subclass of: Bacterial infections

X wiskott-aldrich syndrome (was)
type: Class
comment: A rare X-linked disorder characterized by eczema, low platelet count, and immune system dysfunction.
subclass of: T cell deficiency disorders
subclass of: Monogenic hematologic disorders
subclass of: Monogenic immunologic disorders
subclass of: Primary antibody deficiencies
subclass of: Combined immunodeficiencies
subclass of: Organ-specific autoimmune rare diseases
subclass of: Hematological genetic rare diseases
subclass of: X-linked recessive rare diseases
subclass of: Syndromic inherited rare diseases

Metastatic rare cancers
type: Class
comment: Rare cancers that have spread from their original site to other parts of the body, often making them more difficult to treat.
subclass of: Uncommon cancers

Stimulant use disorder
type: Class
comment: 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.
subclass of: Drug addiction

Non-24-hour sleep-wake disorder
type: Class
comment: 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.
subclass of: Circadian rhythm disorders

Rapid cycling bipolar disorder
type: Class
comment: A pattern of frequent and rapid shifts between manic, depressive, or mixed episodes within a year.
subclass of: Bipolar disorder

Congenital stationary night blindness
type: Class
comment: 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.
subclass of: Ophthalmological genetic diseases
subclass of: Genetic rare diseases
subclass of: Mendelian disorders

Mitochondrial myopathy with ragged red fibers
type: Class
comment: This mitochondrial disease is characterized by muscle weakness and the presence of ragged red fibers in muscle tissue.
subclass of: Oxidative phosphorylation disorders
subclass of: Secondary mitochondrial diseases
subclass of: Mitochondrial myopathy
subclass of: Organ-specific metabolic genetic diseases
subclass of: Syndromic inherited rare diseases

Schizophrenia
type: Class
comment: A chronic mental disorder characterized by distorted thinking, hallucinations, delusions, and a lack of motivation.
subclass of: Mental health disorders

Dermatosis herpetiformis
type: Class
comment: A specific type of dermatosis characterized by intensely itchy and blistering skin lesions, often associated with an autoimmune reaction to gluten.
subclass of: Organ-specific autoimmune rare diseases
subclass of: Inflammatory dermatosis
subclass of: Autoimmune skin diseases

Edwards syndrome
type: Class
comment: 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.
subclass of: Trisomy disorders
subclass of: Syndromic inherited rare diseases

Mitochondrial neurogastrointestinal encephalomyopathy (mngie)
type: Class
comment: 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.
subclass of: Mitochondrial neurogastrointestinal encephalopathy (mngie)
subclass of: Mitochondrial encephalomyopathy
subclass of: Organ-specific metabolic genetic diseases
subclass of: Degenerative neurological rare diseases

Ich albinism
type: Class
comment: Ich albinism is a subcategory of Dermatological genetic diseases. Genetic disorders that primarily affect the skin, causing various skin abnormalities and conditions.
subclass of: Dermatological genetic diseases
subclass of: Dermatological genetic disorders

Spinocerebellar ataxia
type: Class
comment: 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.
subclass of: Neurodegenerative diseases
subclass of: Mendelian disorders
subclass of: Neuromuscular rare diseases
subclass of: Degenerative neurological rare diseases
subclass of: Genetic neurological rare diseases

Congenital heart disease
type: Class
comment: Structural abnormalities in the heart that are present at birth.
subclass of: Heart disease

Pituitary cysts
type: Class
comment: Fluid-filled sacs that form in the pituitary gland, which can cause hormonal imbalances or compress nearby structures.
subclass of: Pituitary gland disorders

Neurofibromatosis
type: Class
comment: A group of genetic disorders that cause tumors to form on nerve tissue.
subclass of: Monogenic disorders
subclass of: Syndromic inherited rare diseases
subclass of: Genetic neurological rare diseases
subclass of: Neurocutaneous disorders

Treatment options for ovarian cancer
type: Class
comment: Different approaches and modalities used to treat ovarian cancer, including surgery, chemotherapy, radiation therapy, targeted therapy, hormone therapy, and immunotherapy.
subclass of: Ovarian cancer

Mitochondrial optic neuropathy
type: Class
comment: This refers to a type of mitochondrial disease that primarily affects the optic nerve, leading to vision loss or impairment.
subclass of: Mitochondrial optic neuropathies
subclass of: Primary mitochondrial diseases
subclass of: Mitochondrial neuropathy

Progressive supranuclear palsy (psp)
type: Class
comment: 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.
subclass of: Progressive supranuclear palsy

Rosacea
type: Class
comment: A chronic inflammatory skin condition that primarily affects the face, causing redness, flushing, and sometimes small, pus-filled bumps.
subclass of: Inflammatory dermatosis

Mitochondrial myopathy with lactic acidosis
type: Class
comment: This mitochondrial disease is characterized by muscle weakness and the buildup of lactic acid in the body.
subclass of: Oxidative phosphorylation disorders
subclass of: Mitochondrial myopathy
subclass of: Inborn errors of metabolism
subclass of: Organ-specific metabolic genetic diseases

Frontotemporal dementia (ftd)
type: Class
comment: 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.
subclass of: Neurodegenerative diseases
subclass of: Frontotemporal dementia

Perioral dermatitis
type: Class
comment: A rash that typically affects the area around the mouth, causing redness, bumps, and sometimes scaling.
subclass of: Dermatitis
subclass of: Inflammatory dermatosis

Alopecia areata
type: Class
comment: A condition characterized by sudden hair loss, often in patches.
subclass of: Dermatosis

Osteogenesis imperfecta
type: Class
comment: A genetic disorder characterized by brittle bones that are prone to fractures.
subclass of: Orthopedic conditions
subclass of: Monogenic skeletal disorders
subclass of: Skeletal dysplasias
subclass of: Syndromic inherited rare diseases

Urea cycle disorders
type: Class
comment: 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.
subclass of: Enzyme deficiencies
subclass of: Genetic rare diseases
subclass of: Disorders of amino acid metabolism
subclass of: Organ-specific metabolic genetic diseases
subclass of: Mendelian disorders
subclass of: Organ-specific metabolic rare diseases

Squamous cell carcinoma
type: Class
comment: 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.
subclass of: Non-small cell lung cancer

Corticobasal degeneration (cbd)
type: Class
comment: 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.
subclass of: Neurodegenerative diseases
subclass of: Degenerative neurological rare diseases

Conjunctivitis
type: Class
comment: 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.
subclass of: Infectious diseases
subclass of: Eye diseases

X severe combined immunodeficiency (scid)
type: Class
comment: A group of genetic disorders that result in a severe impairment of the immune system, leaving individuals highly susceptible to infections.
subclass of: T cell deficiency disorders
subclass of: Severe combined immunodeficiency (scid)
subclass of: Combined immunodeficiencies
subclass of: X-linked recessive rare diseases

Cholesteryl ester storage disease
type: Class
comment: A rare genetic disorder characterized by the accumulation of cholesteryl esters in various tissues, leading to organ damage and dysfunction.
subclass of: Lipid storage disorders
subclass of: Lysosomal storage diseases
subclass of: Monogenic metabolic disorders
subclass of: Organ-specific metabolic genetic diseases

Parasitic opportunistic infections
type: Class
comment: 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.
subclass of: Opportunistic infections
subclass of: Parasitic infections

Mitochondrial myelopathy
type: Class
comment: Mitochondrial myelopathy is a mitochondrial disease that affects the spinal cord, leading to weakness, numbness, and other neurological symptoms.
subclass of: Mitochondrial diseases
subclass of: Neurological diseases
subclass of: Mitochondrial rare diseases

Bulimia nervosa
type: Class
comment: 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.
subclass of: Eating disorders
subclass of: Nutritional disorders

Ag common variable immunodeficiency
type: Class
comment: Common variable immunodeficiency is a group of disorders characterized by low levels of antibodies and an increased susceptibility to infections.
subclass of: B cell deficiencies
subclass of: Antibody deficiencies

Foodborne infections
type: Class
comment: Zoonotic infections that can be transmitted through contaminated food or water.
subclass of: Bacterial infections
subclass of: Food poisoning
subclass of: Zoonotic infections

Autism spectrum disorder (asd)
type: Class
comment: A complex developmental disorder that affects social interaction, communication, and behavior. It is typically diagnosed in early childhood and can vary widely in severity.
subclass of: Mental health disorders
subclass of: Neurological diseases

Skeletal dysplasia
type: Class
comment: Conditions that affect the growth and development of bones, leading to abnormalities in bone structure and function.
subclass of: Genetic diseases
subclass of: Growth disorders
subclass of: Musculoskeletal disorders
subclass of: Rare diseases

Familial hypercholesterolemia
type: Class
comment: A genetic disorder characterized by high levels of cholesterol in the blood, leading to an increased risk of cardiovascular disease.
subclass of: Autosomal dominant diseases
subclass of: Cardiovascular genetic diseases
subclass of: Multifactorial genetic diseases
subclass of: Monogenic cardiovascular disorders
subclass of: Cholesterol metabolism disorders
subclass of: Hypolipidemias
subclass of: Hypercholesterolemia

Vitamin deficiency anemia
type: Class
comment: 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.
subclass of: Anemia

Arr familial hypercholesterolemia
type: Class
comment: 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.
subclass of: Metabolic disorders
subclass of: Cardiovascular genetic diseases
subclass of: Mendelian disorders

Lichenoid dermatosis
type: Class
comment: Refers to skin conditions characterized by the presence of lichenoid lesions, which are flat-topped papules or plaques with a distinct appearance.
subclass of: Inflammatory dermatosis
subclass of: Dermatosis lichenoides

Sickle cell disease
type: Class
comment: A genetic disorder that causes red blood cells to become misshapen and break down, leading to anemia and other complications.
subclass of: Chronic diseases
subclass of: Sickle cell anemia

Dermatosis vegetans
type: Class
comment: A rare inflammatory skin disorder characterized by the formation of vegetating lesions on the skin.
subclass of: Dermatosis
subclass of: Rare diseases

Huntington's disease
type: Class
comment: A genetic disorder that causes the progressive breakdown of nerve cells in the brain, leading to movement, cognitive, and psychiatric problems.
subclass of: Autosomal dominant diseases
subclass of: Neurodegenerative diseases
subclass of: Neurogenetic syndromes
subclass of: Monogenic disorders

Major depressive disorder with psychotic features
type: Class
comment: 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.
subclass of: Major depressive disorder

Pustular dermatosis
type: Class
comment: Refers to skin conditions characterized by the formation of pustules, which are small, pus-filled blisters on the skin.
subclass of: Rare diseases
subclass of: Inflammatory dermatosis

Gum disease
type: Class
comment: Also called periodontal disease, it is an infection of the gums that can lead to inflammation, bleeding, and eventually tooth loss if left untreated.
subclass of: Periodontal disease

Turner syndrome
type: Class
comment: 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.
subclass of: Single gene genetic diseases
subclass of: Genetic growth disorders
subclass of: Syndromic endocrine genetic diseases
subclass of: Gonadal endocrine genetic diseases
subclass of: Monosomy disorders
subclass of: Sex chromosome disorders
subclass of: Syndromic inherited rare diseases

Is hypertension
type: Class
comment: Is hypertension is a subcategory of Cardiovascular diseases. Disorders that affect the heart and blood vessels, including conditions like heart disease and stroke.
subclass of: Cardiovascular diseases

Pituitary dwarfism
type: Class
comment: Pituitary dwarfism refers to a condition where the pituitary gland does not produce enough growth hormone, resulting in stunted growth and development.
subclass of: Hypopituitarism
subclass of: Genetic growth disorders
subclass of: Hormone deficiencies

X omenn syndrome
type: Class
comment: A severe immune disorder characterized by a lack of functional immune cells, resulting in recurrent infections and failure to thrive.
subclass of: T cell deficiency disorders
subclass of: Autoimmune rare diseases
subclass of: Monogenic immunologic disorders
subclass of: Combined immunodeficiencies
subclass of: Syndromic inherited rare diseases

Respiratory tract infections
type: Class
comment: Bacterial infections specifically affecting the respiratory tract, including conditions like strep throat or whooping cough.
subclass of: Bacterial infections
subclass of: Respiratory infections

Ulcerative colitis
type: Class
comment: A chronic inflammatory condition that specifically affects the colon and rectum, causing inflammation and ulcers in the lining of the large intestine.
subclass of: Inflammatory bowel disease

Chronic granulomatous disease (cgd)
type: Class
comment: 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.
subclass of: Congenital immunodeficiency disorders
subclass of: Phagocytic cell deficiencies
subclass of: Chronic diseases
subclass of: Monogenic hematologic disorders
subclass of: Monogenic immunologic disorders
subclass of: Hematological genetic rare diseases
subclass of: Autosomal recessive rare diseases

Hantavirus
type: Class
comment: 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.
subclass of: Viral zoonotic infections
subclass of: Zoonotic vector-borne infections
subclass of: Airborne zoonotic infections

Bipolar i disorder
type: Class
comment: 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.
subclass of: Bipolar disorder

Avian influenza
type: Class
comment: A viral infection that primarily affects birds but can also be transmitted to humans, causing respiratory illness.
subclass of: Viral zoonotic infections

Low-grade bladder cancer
type: Class
comment: Refers to bladder cancer that is characterized by slow-growing cancer cells that are less likely to spread to other parts of the body.
subclass of: Bladder cancer

Acneiform dermatosis
type: Class
comment: A group of skin disorders that resemble acne, characterized by the presence of papules, pustules, and comedones.
subclass of: Inflammatory dermatosis

Type 1 diabetes
type: Class
comment: An autoimmune disease where the immune system destroys the insulin-producing cells in the pancreas, resulting in high blood sugar levels.
subclass of: Autoimmune diseases
subclass of: Diabetes

Her2-positive breast cancer
type: Class
comment: Breast cancer that tests positive for the human epidermal growth factor receptor 2 (HER2) protein, which promotes the growth of cancer cells.
subclass of: Her2-positive

Multiple epiphyseal dysplasia
type: Class
comment: A genetic disorder that affects the growth and development of the ends of long bones, leading to joint pain, stiffness, and deformities.
subclass of: Chondrodysplasias
subclass of: Skeletal dysplasias

Mycobacterium avium complex infection
type: Class
comment: A bacterial infection caused by Mycobacterium avium complex (MAC), which can affect multiple organs, especially in individuals with compromised immune systems.
subclass of: Bacterial opportunistic infections

Panic disorder
type: Class
comment: 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.
subclass of: Anxiety disorders

Head and neck rare cancers
type: Class
comment: Rare cancers that occur in the head and neck region, including the mouth, throat, nose, sinuses, salivary glands, and thyroid gland.
subclass of: Uncommon cancers

Fatty acid oxidation disorders
type: Class
comment: 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.
subclass of: Enzyme deficiencies
subclass of: Single gene genetic diseases
subclass of: Fatty acid metabolism disorders
subclass of: Mitochondrial rare diseases

Mitochondrial cardiomyopathy
type: Class
comment: A type of mitochondrial disease that specifically affects the heart, leading to heart muscle dysfunction and various cardiac symptoms.
subclass of: Primary mitochondrial diseases
subclass of: Organ-specific metabolic rare diseases

Polyglandular autoimmune syndrome (pas)
type: Class
comment: Autoimmune diseases that involve multiple endocrine glands, leading to dysfunction and hormonal imbalances.
subclass of: Autoimmune polyendocrine syndrome
subclass of: Organ-specific autoimmune rare diseases

Waterborne zoonotic infections
type: Class
comment: Zoonotic infections that can be transmitted through contaminated water sources.
subclass of: Zoonotic infections

Cavities
type: Class
comment: Also known as dental caries or tooth decay, cavities are areas of tooth damage caused by the breakdown of tooth enamel.
subclass of: Dental diseases

Premature ejaculation
type: Class
comment: A condition where a man ejaculates too quickly during sexual intercourse, often before or shortly after penetration.
subclass of: Reproductive system disorders

Psoriasis
type: Class
comment: A chronic autoimmune condition characterized by the rapid buildup of skin cells, resulting in red, scaly patches.
subclass of: Autoimmune diseases
subclass of: Autoimmune skin diseases
subclass of: Papulosquamous dermatosis

Gastrointestinal opportunistic infections
type: Class
comment: Infections that affect the gastrointestinal tract, often caused by bacteria, viruses, or parasites.
subclass of: Gastrointestinal infections
subclass of: Opportunistic infections

Emphysema
type: Class
comment: 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.
subclass of: Chronic obstructive pulmonary disease (copd)

Tuberculous meningitis
type: Class
comment: Meningitis caused by the bacterium Mycobacterium tuberculosis, which is associated with tuberculosis.
subclass of: Bacterial meningitis
subclass of: Tuberculosis

Hunter syndrome
type: Class
comment: 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.
subclass of: Single gene genetic diseases
subclass of: Mucopolysaccharidoses
subclass of: Organ-specific metabolic genetic diseases
subclass of: Mendelian disorders

Myotonic dystrophy
type: Class
comment: A genetic disorder characterized by muscle stiffness and weakness, as well as other symptoms such as myotonia (delayed muscle relaxation) and heart problems.
subclass of: Autosomal dominant diseases
subclass of: Muscular dystrophy
subclass of: Neurogenetic syndromes
subclass of: Neuromuscular rare diseases

Treatment options for bladder cancer
type: Class
comment: Different approaches and modalities used to treat ovarian cancer, including surgery, chemotherapy, radiation therapy, targeted therapy, hormone therapy, and immunotherapy.
subclass of: Bladder cancer

X-linked ichthyosis
type: Class
comment: 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.
subclass of: Monogenic dermatologic disorders
subclass of: X-linked recessive rare diseases
subclass of: Ichthyosis

Ectodermal dysplasia
type: Class
comment: A group of genetic disorders that affect the development of the skin, hair, teeth, and sweat glands.
subclass of: Single gene genetic diseases
subclass of: Ectodermal dysplasias

Ototoxic hearing loss
type: Class
comment: Hearing loss caused by exposure to certain medications or chemicals that are toxic to the ear.
subclass of: Sensorineural hearing loss
subclass of: Acquired hearing loss

Pituitary stalk lesions
type: Class
comment: 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.
subclass of: Pituitary dysfunction

Sedative-hypnotic use disorder
type: Class
comment: A disorder involving the misuse or dependence on medications that induce sleep or relaxation.
subclass of: Drug addiction

Metastatic bladder cancer
type: Class
comment: Refers to bladder cancer that has spread to other parts of the body, such as the lymph nodes, bones, or other organs.
subclass of: Bladder cancer

X mendelian susceptibility to mycobacterial disease (msmd)
type: Class
comment: A group of genetic disorders that increase susceptibility to infections caused by mycobacteria, such as tuberculosis.
subclass of: Primary immunodeficiency disorders
subclass of: Immunodeficiency genetic diseases
subclass of: X-linked recessive diseases
subclass of: Monogenic immunologic disorders

Acromegaly
type: Class
comment: A hormonal disorder characterized by excessive growth hormone production, resulting in enlarged body parts.
subclass of: Hyperpituitarism
subclass of: Pituitary hormone deficiencies

Skin rare cancers
type: Class
comment: Rare cancers that affect the skin, including various types of melanoma and non-melanoma skin cancers.
subclass of: Skin cancer
subclass of: Rare skin cancers

Delayed sleep phase syndrome
type: Class
comment: 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.
subclass of: Circadian rhythm disorders

Arr arrhythmogenic right ventricular dysplasia
type: Class
comment: A genetic subtype of arrhythmogenic right ventricular dysplasia, a condition where the heart muscle is replaced by fatty or fibrous tissue.
subclass of: Cardiovascular genetic diseases
subclass of: Rare genetic disorders

Dermatological viral infections
type: Class
comment: Infections that affect the skin, causing symptoms such as redness, swelling, and pain.
subclass of: Infectious dermatosis
subclass of: Viral skin infections

Cystinuria
type: Class
comment: A genetic disorder characterized by the impaired reabsorption of the amino acid cystine in the kidneys, resulting in the formation of kidney stones.
subclass of: Organic acid metabolism disorders
subclass of: Disorders of amino acid metabolism
subclass of: Monogenic metabolic disorders
subclass of: Monogenic renal disorders

X hyper igm syndrome
type: Class
comment: A group of genetic disorders that result in a deficiency of immunoglobulin class-switching, leading to recurrent infections.
subclass of: Monogenic hematologic disorders
subclass of: Monogenic immunologic disorders
subclass of: B-cell immunodeficiencies
subclass of: Hematological genetic rare diseases
subclass of: Syndromic inherited rare diseases

Vascular neurological rare diseases
type: Class
comment: 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.
subclass of: Neurological rare diseases

Parasomnias
type: Class
comment: Parasomnias are a group of sleep disorders that involve abnormal behaviors, movements, or experiences during sleep, such as sleepwalking, night terrors, or sleep talking.
subclass of: Sleep disorders

Mitochondrial myopathy with external ophthalmoplegia
type: Class
comment: This mitochondrial disease is characterized by muscle weakness and paralysis of the muscles that control eye movement.
subclass of: Secondary mitochondrial diseases
subclass of: Mitochondrial myopathy
subclass of: Syndromic inherited rare diseases

Pancreatic cancer
type: Class
comment: Cancer that develops in the pancreas, an organ responsible for producing enzymes and hormones.
subclass of: Cancer

Mitochondrial ataxia
type: Class
comment: Mitochondrial ataxia refers to a group of mitochondrial diseases that cause problems with coordination and balance due to dysfunction in the cerebellum.
subclass of: Primary mitochondrial diseases
subclass of: Neurogenetic syndromes
subclass of: Genetic disorders affecting the nervous system
subclass of: Neuromuscular rare diseases
subclass of: Metabolic neurological rare diseases

Polygenic endocrine genetic diseases
type: Class
comment: These are genetic disorders influenced by multiple genes, where the combined effect of these genes contributes to the development of endocrine-related abnormalities.
subclass of: Multifactorial genetic diseases
subclass of: Endocrine genetic diseases

Post-traumatic stress disorder (ptsd)
type: Class
comment: 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.
subclass of: Anxiety disorders

Endometriosis
type: Class
comment: A condition where the tissue that normally lines the uterus grows outside of it, causing pain and fertility problems.
subclass of: Menstrual disorders

Nephrotic syndrome
type: Class
comment: A condition characterized by the leakage of large amounts of protein into the urine, often caused by damage to the filters in the kidneys.
subclass of: Renal diseases

Hormone-resistant prostate cancer
type: Class
comment: Describes prostate cancer that no longer responds to hormone therapy, which is a common treatment for prostate cancer.
subclass of: Aggressive prostate cancer
subclass of: Recurrent prostate cancer

Mitochondrial myopathy with hearing loss
type: Class
comment: This mitochondrial disease is characterized by muscle weakness and progressive hearing loss.
subclass of: Secondary mitochondrial diseases
subclass of: Mitochondrial myopathy
subclass of: Syndromic inherited rare diseases

Fungal zoonotic infections
type: Class
comment: Infections caused by fungi that can be transmitted between animals and humans.
subclass of: Fungal infections
subclass of: Zoonotic infections

Male breast cancer
type: Class
comment: Breast cancer that occurs in men, although it is much less common than in women.
subclass of: Breast cancer

Genetic hearing loss
type: Class
comment: Hearing loss that is inherited and caused by genetic mutations or abnormalities.
subclass of: Mendelian disorders
subclass of: Hearing loss

Macular degeneration
type: Class
comment: 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.
subclass of: Eye diseases

Cerebrovascular rare diseases
type: Class
comment: Rare diseases that affect the blood vessels in the brain, leading to conditions such as strokes or vascular malformations.
subclass of: Neurological rare diseases

Metastatic lung cancer
type: Class
comment: Lung cancer that has spread to other parts of the body from its original site in the lungs.
subclass of: Lung cancer

Autosomal recessive neurological genetic diseases
type: Class
comment: 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.
subclass of: Developmental neurological genetic diseases
subclass of: Autosomal recessive rare diseases
subclass of: Genetic neurological rare diseases

Structural reproductive genetic disorders
type: Class
comment: This refers to genetic disorders that cause abnormalities or malformations in the structure of the reproductive organs or related structures.
subclass of: Genetic disorders affecting pregnancy
subclass of: Reproductive organ genetic disorders

Williams syndrome
type: Class
comment: 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.
subclass of: Deletion syndromes

Acne
type: Class
comment: A common skin condition characterized by the presence of pimples, blackheads, and whiteheads on the face, chest, and back.
subclass of: Inflammatory dermatosis

Inhalant use disorder
type: Class
comment: A disorder characterized by the misuse or dependence on inhalants, such as solvents or aerosols, resulting in harmful effects on the body and mind.
subclass of: Drug addiction

Attention-deficit/hyperactivity disorder (adhd)
type: Class
comment: A neurodevelopmental disorder characterized by persistent patterns of inattention, hyperactivity, and impulsivity that can interfere with daily functioning and development.
subclass of: Mental health disorders
subclass of: Neurological diseases

Metastatic prostate cancer
type: Class
comment: 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.
subclass of: Advanced prostate cancer

Cataracts
type: Class
comment: Cataracts occur when the lens of the eye becomes cloudy, leading to blurry vision and difficulty seeing clearly.
subclass of: Eye diseases

Mixed dementia
type: Class
comment: 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.
subclass of: Dementia

Arr fabry disease
type: Class
comment: 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.
subclass of: Cardiovascular genetic diseases
subclass of: Disorders of lipid metabolism
subclass of: Lysosomal storage diseases
subclass of: Organic acid metabolism disorders
subclass of: Fatty acid metabolism disorders
subclass of: Glycolipid metabolism disorders
subclass of: Sphingolipid metabolism disorders
subclass of: Lipid storage disorders

Pemphigus
type: Class
comment: A group of rare autoimmune disorders that cause blistering of the skin and mucous membranes.
subclass of: Inflammatory dermatosis
subclass of: Autoimmune skin diseases
subclass of: Rare diseases

Retinitis pigmentosa
type: Class
comment: 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.
subclass of: Retinal dystrophies
subclass of: Monogenic ophthalmic disorders

Gastrointestinal rare cancers
type: Class
comment: Rare cancers that affect the digestive system, including the esophagus, stomach, small intestine, colon, and rectum.
subclass of: Gastrointestinal diseases
subclass of: Uncommon cancers

Lipodystrophies
type: Class
comment: 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.
subclass of: Lipid metabolism disorders
subclass of: Endocrine disorders
subclass of: Organ-specific metabolic rare diseases

Maple syrup urine disease (msud)
type: Class
comment: 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.
subclass of: Enzyme deficiencies
subclass of: Organic acidemias
subclass of: Disorders of amino acid metabolism
subclass of: Monogenic metabolic disorders
subclass of: Autosomal recessive rare diseases

Autoimmune hemolytic anemia
type: Class
comment: In this condition, the immune system mistakenly attacks and destroys red blood cells.
subclass of: Autoimmune cytopenias
subclass of: Organ-specific autoimmune rare diseases

Cut superficial fungal infections
type: Class
comment: Fungal infections that affect the outermost layer of the skin, such as athlete's foot or ringworm.
subclass of: Dermatophytosis

X-linked transient hypogammaglobulinemia of infancy
type: Class
comment: 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.
subclass of: Primary immunodeficiency disorders
subclass of: Single gene disorders
subclass of: Rare genetic disorders
subclass of: Transient hypogammaglobulinemia of infancy (thi)

Primary adrenal insufficiency
type: Class
comment: Also known as Addison's disease, it is a condition where the adrenal glands do not produce enough hormones.
subclass of: Adrenal insufficiency
subclass of: Chronic diseases

Hormone-responsive prostate cancer
type: Class
comment: Refers to prostate cancer that responds to hormone therapy, meaning the cancer growth can be slowed or stopped by hormonal treatments.
subclass of: Prostate cancer

Non-muscle invasive bladder cancer
type: Class
comment: Refers to bladder cancer that is confined to the inner lining of the bladder and has not invaded the muscle layer.
subclass of: Non-invasive bladder cancer

Vasculitic dermatosis
type: Class
comment: A group of skin disorders characterized by inflammation of the blood vessels in the skin.
subclass of: Inflammatory dermatosis
subclass of: Vascular dermatosis
subclass of: Rare diseases

Mitochondrial myopathy with deafness
type: Class
comment: This mitochondrial disease is characterized by muscle weakness and hearing loss.
subclass of: Muscular genetic diseases
subclass of: Mitochondrial myopathy
subclass of: Syndromic inherited rare diseases

Restless legs syndrome
type: Class
comment: 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.
subclass of: Sleep disorders

Gorlin syndrome
type: Class
comment: 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.
subclass of: Single gene genetic diseases
subclass of: Dermatological genetic diseases
subclass of: Neoplastic skin diseases
subclass of: Mendelian disorders
subclass of: Syndromic inherited rare diseases
subclass of: Dermatological genetic disorders

Amblyopia
type: Class
comment: 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.
subclass of: Eye diseases

X chediak-higashi syndrome (chs)
type: Class
comment: 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.
subclass of: Chromosomal disorders
subclass of: Immunodeficiency genetic diseases
subclass of: Monogenic hematologic disorders
subclass of: Monogenic immunologic disorders
subclass of: Hematological genetic rare diseases
subclass of: Syndromic inherited rare diseases

Major depressive disorder with atypical features
type: Class
comment: 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.
subclass of: Major depressive disorder

Dermatosis papulosa nigra
type: Class
comment: A benign skin condition characterized by small, dark, raised bumps on the face and neck, commonly seen in individuals with darker skin tones.
subclass of: Pigmentary skin diseases

Myoclonic epilepsy with ragged red fibers (merrf)
type: Class
comment: MERRF is a mitochondrial disorder characterized by myoclonic seizures, muscle weakness, and the presence of ragged red fibers in muscle tissue.
subclass of: Muscular genetic diseases
subclass of: Mitochondrial epilepsy
subclass of: Primary mitochondrial diseases
subclass of: Mitochondrial genetic diseases
subclass of: Mitochondrial neurological genetic diseases
subclass of: Monogenic disorders
subclass of: Organ-specific metabolic rare diseases
subclass of: Neuromuscular rare diseases
subclass of: Genetic neurological rare diseases
subclass of: Metabolic neurological rare diseases

X-linked agammaglobulinemia (xla)
type: Class
comment: 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.
subclass of: B cell deficiency disorders
subclass of: Monogenic hematologic disorders
subclass of: Monogenic immunologic disorders
subclass of: Combined immunodeficiencies
subclass of: Hematological genetic rare diseases
subclass of: X-linked recessive rare diseases

Hpv (human papillomavirus)
type: Class
comment: HPV is a common sexually transmitted infection that can cause genital warts and various types of cancers, including cervical, anal, and throat cancer.
subclass of: Human papillomavirus (hpv)

Arr marfan syndrome
type: Class
comment: Arr marfan syndrome is a subcategory of Cardiovascular genetic diseases. Genetic conditions that affect the heart and blood vessels.
subclass of: Cardiovascular genetic diseases
subclass of: Rare diseases

Urticarial dermatosis
type: Class
comment: Describes skin conditions characterized by the presence of hives or wheals, which are raised, itchy, and often red or pale swellings on the skin.
subclass of: Allergic skin diseases
subclass of: Inflammatory dermatosis

Hodgkin lymphoma
type: Class
comment: 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.
subclass of: Lymphoma

Hereditary nonpolyposis colorectal cancer (hnpcc)
type: Class
comment: An inherited condition that increases the risk of developing colorectal cancer and other types of cancer.
subclass of: Genetic diseases
subclass of: Colorectal cancer

Merkel cell carcinoma
type: Class
comment: 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.
subclass of: Skin cancer

Mitochondrial myopathy with diabetes
type: Class
comment: This mitochondrial disease is characterized by muscle weakness and diabetes mellitus.
subclass of: Secondary mitochondrial diseases
subclass of: Mitochondrial myopathy
subclass of: Disorders of mitochondrial metabolism
subclass of: Organ-specific metabolic genetic diseases

Celiac disease
type: Class
comment: An autoimmune disorder where the ingestion of gluten leads to damage in the small intestine.
subclass of: Autoimmune diseases
subclass of: Gastrointestinal diseases
subclass of: Nutritional disorders

Hashimoto's thyroiditis
type: Class
comment: An autoimmune disease that leads to inflammation of the thyroid gland, causing hypothyroidism.
subclass of: Autoimmune diseases
subclass of: Thyroid disorders

Mitochondrial myopathy with optic neuropathy
type: Class
comment: This mitochondrial disease is characterized by muscle weakness and optic neuropathy, which is damage to the optic nerve.
subclass of: Mitochondrial myopathy
subclass of: Mitochondrial neurological genetic diseases
subclass of: Neurogenetic syndromes
subclass of: Syndromic inherited rare diseases
subclass of: Neuromuscular rare diseases
subclass of: Metabolic neurological rare diseases

Phenylketonuria (pku)
type: Class
comment: 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.
subclass of: Nutritional disorders
subclass of: Disorders of amino acid metabolism
subclass of: Enzyme deficiencies
subclass of: Organic acid metabolism disorders
subclass of: Autosomal recessive disorders
subclass of: Monogenic metabolic disorders
subclass of: Organ-specific metabolic rare diseases

Systemic fungal infections
type: Class
comment: Fungal infections that spread throughout the body, often affecting internal organs and potentially causing severe illness.
subclass of: Systemic

Alzheimer's disease
type: Class
comment: A progressive brain disorder that affects memory, thinking, and behavior.
subclass of: Neurodegenerative diseases
subclass of: Late-onset dementia

Secondary adrenal insufficiency
type: Class
comment: A condition where the adrenal glands do not produce enough hormones due to a problem with the pituitary gland or hypothalamus.
subclass of: Adrenal disorders

Mitochondrial dna depletion syndrome
type: Class
comment: This is a group of mitochondrial diseases characterized by a significant reduction in the amount of mitochondrial DNA, leading to impaired mitochondrial function.
subclass of: Genetic rare diseases
subclass of: Mitocondrial dna depletion syndromes
subclass of: Organ-specific metabolic rare diseases

Hookworm infection
type: Class
comment: 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.
subclass of: Helminthic infections

Leber hereditary optic neuropathy (lhon)
type: Class
comment: LHON is a genetic disorder that primarily affects the optic nerve, leading to vision loss and blindness.
subclass of: Mitochondrial neuropathy
subclass of: Mitochondrial genetic diseases
subclass of: Monogenic disorders
subclass of: Genetic neurological rare diseases

Mitochondrial myopathy with retinopathy
type: Class
comment: This mitochondrial disease is characterized by muscle weakness and retinopathy, which is damage to the retina of the eye.
subclass of: Mitochondrial myopathy
subclass of: Syndromic inherited rare diseases

Lhon (leber's hereditary optic neuropathy)
type: Class
comment: A genetic disorder that primarily affects the optic nerves, leading to vision loss.
subclass of: Mitochondrial genetic diseases
subclass of: Inherited mitochondrial diseases
subclass of: Mitochondrial optic neuropathies
subclass of: Monogenic ophthalmic disorders
subclass of: Genetic neurological rare diseases

T-cell immunodeficiencies
type: Class
comment: Immunodeficiencies that specifically affect T cells, leading to impaired cellular immune responses and increased susceptibility to infections.
subclass of: T cell deficiency disorders
subclass of: Combined immunodeficiency diseases
subclass of: T cell deficiencies

Acute lymphoblastic leukemia
type: Class
comment: A rapidly progressing cancer that affects the white blood cells, specifically the lymphocytes.
subclass of: Leukemia

Hurler syndrome
type: Class
comment: 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.
subclass of: Lysosomal storage disorders
subclass of: Mucopolysaccharidoses
subclass of: Organic acid metabolism disorders
subclass of: Organ-specific metabolic genetic diseases
subclass of: Monogenic metabolic disorders
subclass of: Autosomal recessive rare diseases

Chondrodysplasia
type: Class
comment: Abnormalities or defects in the cartilage and underlying bone, which can cause pain, joint dysfunction, and limited mobility.
subclass of: Chondrodysplasias

Pneumocystis pneumonia
type: Class
comment: A fungal infection caused by Pneumocystis jirovecii, primarily affecting the lungs, often seen in individuals with weakened immune systems.
subclass of: Pneumonia
subclass of: Respiratory fungal infections
subclass of: Fungal opportunistic infections
subclass of: Respiratory opportunistic infections

Cutaneous lymphoma
type: Class
comment: Lymphoma that primarily affects the skin, causing rashes, lesions, and other skin-related symptoms.
subclass of: Lymphoma
subclass of: Neoplastic skin diseases
subclass of: Uncommon cancers

Polycystic ovary syndrome
type: Class
comment: A hormonal disorder in women, characterized by enlarged ovaries with small cysts and hormonal imbalances.
subclass of: Metabolic disorders
subclass of: Polycystic ovaries

Fragile x syndrome
type: Class
comment: 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.
subclass of: X-linked neurological genetic diseases
subclass of: X-linked recessive disorders
subclass of: Monogenic neurodevelopmental disorders
subclass of: Syndromic inherited rare diseases
subclass of: Congenital neurological rare diseases

Klinefelter syndrome
type: Class
comment: 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.
subclass of: Genetic growth disorders
subclass of: Hypogonadism
subclass of: Hormone deficiencies
subclass of: Syndromic endocrine genetic diseases
subclass of: Gonadal endocrine genetic diseases
subclass of: Fertility disorders
subclass of: Testicular disorders
subclass of: Congenital reproductive genetic diseases
subclass of: Infertility-related genetic diseases
subclass of: Monosomy disorders
subclass of: Monogenic disorders
subclass of: X-linked disorders

Hepatitis c
type: Class
comment: 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.
subclass of: Bloodborne infections
subclass of: Viral infections

Trypanosomiasis
type: Class
comment: 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.
subclass of: Vector-borne infections
subclass of: Protozoal infections

Ag x-linked agammaglobulinemia
type: Class
comment: 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.
subclass of: Monogenic hematologic disorders
subclass of: B cell deficiency disorders
subclass of: Monogenic immunologic disorders
subclass of: Combined immunodeficiencies
subclass of: Hematological genetic rare diseases
subclass of: X-linked recessive rare diseases

Congenital disorders of glycosylation
type: Class
comment: 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.
subclass of: Genetic rare diseases
subclass of: Rare genetic disorders
subclass of: Inborn errors of metabolism
subclass of: Organ-specific metabolic rare diseases

Adenocarcinoma
type: Class
comment: The most common type of colorectal cancer that starts in the glandular cells lining the colon or rectum.
subclass of: Colon cancer

Thalassemia
type: Class
comment: An inherited blood disorder that affects the production of hemoglobin, resulting in a reduced number of red blood cells and anemia.
subclass of: Anemia
subclass of: Hemoglobinopathies
subclass of: Autosomal recessive disorders

Cleidocranial dysplasia
type: Class
comment: A genetic disorder characterized by abnormal development of the bones and teeth, particularly affecting the collarbones and skull.
subclass of: Single gene genetic diseases
subclass of: Mendelian disorders
subclass of: Skeletal genetic rare diseases
subclass of: Syndromic inherited rare diseases

Renal autoimmune rare diseases
type: Class
comment: Autoimmune diseases that primarily affect the kidneys, leading to inflammation and damage to the renal tissues.
subclass of: Renal diseases
subclass of: Organ-specific autoimmune rare diseases

Kaposi sarcoma
type: Class
comment: 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.
subclass of: Cancer
subclass of: Neoplastic skin diseases

Nasal congestion
type: Class
comment: Blockage or stuffiness in the nasal passages, often caused by inflammation or excess mucus.
subclass of: Nasal disorders

Postpartum depression
type: Class
comment: A type of depression that occurs after childbirth and is characterized by feelings of extreme sadness, anxiety, and exhaustion.
subclass of: Depression

Acute myeloid leukemia
type: Class
comment: 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.
subclass of: Leukemia

Bartter syndrome
type: Class
comment: A group of rare genetic disorders that affect the kidneys' ability to reabsorb salt, leading to electrolyte imbalances and fluid loss.
subclass of: Non-syndromic endocrine genetic diseases
subclass of: Syndromic endocrine genetic diseases
subclass of: Organ-specific metabolic genetic diseases
subclass of: Autosomal recessive disorders
subclass of: Monogenic metabolic disorders
subclass of: Monogenic renal disorders
subclass of: Syndromic inherited rare diseases
subclass of: Organ-specific metabolic rare diseases

Ich epidermolysis bullosa
type: Class
comment: Ich epidermolysis bullosa is a subcategory of Dermatological genetic diseases. Genetic disorders that primarily affect the skin, causing various skin abnormalities and conditions.
subclass of: Genetic dermatosis

Pulmonary fibrosis
type: Class
comment: 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.
subclass of: Chronic respiratory diseases

Multiple endocrine neoplasia
type: Class
comment: A group of rare genetic disorders characterized by the development of tumors in multiple endocrine glands.
subclass of: Endocrine genetic diseases

Hospital-acquired pneumonia
type: Class
comment: 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.
subclass of: Bacterial infections

Osler-weber-rendu syndrome
type: Class
comment: A genetic subtype of hereditary hemorrhagic telangiectasia.
subclass of: Cardiovascular genetic diseases
subclass of: Monogenic cardiovascular disorders
subclass of: Hematological genetic rare diseases
subclass of: Syndromic inherited rare diseases

Pancreatic genetic diseases
type: Class
comment: Genetic disorders that affect the pancreas, an organ involved in the production of insulin and other important hormones.
subclass of: Endocrine genetic diseases
subclass of: Genetic rare diseases
subclass of: Chronic diseases

Eustachian tube dysfunction
type: Class
comment: 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.
subclass of: Otologic disorders

Mitochondrial myopathy with ptosis
type: Class
comment: This mitochondrial disease is characterized by muscle weakness and ptosis, which is drooping of the eyelids.
subclass of: Mitochondrial myopathy
subclass of: Syndromic inherited rare diseases

Ependymomas
type: Class
comment: Tumors that develop from ependymal cells, which line the ventricles of the brain and the central canal of the spinal cord.
subclass of: Primary brain tumors

Peptic ulcers
type: Class
comment: 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.
subclass of: Ulcers

Stroke-like episodes)
type: Class
comment: 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.
subclass of: Melas (mitochondrial encephalomyopathy
subclass of: Mitochondrial depletion syndromes

Autosomal dominant neurological genetic diseases
type: Class
comment: 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.
subclass of: Neurogenetic syndromes
subclass of: Autosomal dominant rare diseases

Staphylococcal infections
type: Class
comment: Staphylococcal infections are caused by the bacteria Staphylococcus aureus and can lead to skin infections, pneumonia, and bloodstream infections.
subclass of: Skin infections

Disorders of carbohydrate metabolism
type: Class
comment: 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.
subclass of: Endocrine disorders
subclass of: Inborn errors of metabolism
subclass of: Organ-specific metabolic rare diseases

Spondyloepiphyseal dysplasia
type: Class
comment: A rare musculoskeletal disease that affects the development of the spine and the ends of long bones, leading to short stature and skeletal abnormalities.
subclass of: Osteochondrodysplasias
subclass of: Skeletal dysplasias

Male infertility
type: Class
comment: Inability of a man to impregnate a woman due to issues with sperm production or function.
subclass of: Reproductive endocrine disorders
subclass of: Infertility

Urinary tract infections
type: Class
comment: 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.
subclass of: Bacterial infections

Stroke-like episodes (melas)
type: Class
comment: 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.
subclass of: Inherited mitochondrial diseases
subclass of: Genetic disorders affecting the nervous system

Norovirus infection
type: Class
comment: 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.
subclass of: Gastrointestinal infections
subclass of: Viral infections

Tonsillitis
type: Class
comment: Inflammation of the tonsils, often causing a sore throat, difficulty swallowing, and swollen lymph nodes.
subclass of: Sore throat

Tendinitis
type: Class
comment: Inflammation or irritation of a tendon, often caused by repetitive movements or overuse.
subclass of: Musculoskeletal disorders

Long qt syndrome subtype
type: Class
comment: A genetic subtype of long QT syndrome.
subclass of: Cardiovascular genetic diseases

Astrocytomas
type: Class
comment: Tumors that develop from astrocytes, a type of glial cell in the brain.
subclass of: Astrocytoma
subclass of: Low-grade gliomas

Bacterial gastroenteritis
type: Class
comment: Infections caused by bacteria that lead to inflammation of the gastrointestinal tract.
subclass of: Bacterial infections
subclass of: Acute gastroenteritis
subclass of: Food poisoning

Retinitis pigmentosa)
type: Class
comment: 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.
subclass of: Mitochondrial diseases

Dermatitis herpetiformis
type: Class
comment: A specific type of dermatosis characterized by intensely itchy and blistering skin lesions, often associated with an autoimmune reaction to gluten.
subclass of: Organ-specific autoimmune rare diseases
subclass of: Vesiculobullous dermatosis
subclass of: Autoimmune skin diseases
subclass of: Dermatitis

Pachyonychia congenita
type: Class
comment: A rare genetic disorder characterized by thickened nails (pachyonychia) and other skin abnormalities such as calluses and cysts.
subclass of: Ectodermal dysplasias
subclass of: Monogenic dermatologic disorders

Ag hyper igm syndrome
type: Class
comment: 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.
subclass of: B cell deficiency disorders
subclass of: Autoimmune rare diseases

Types: bipolar i disorder
type: Class
comment: Types: bipolar i disorder is a subcategory of Bipolar disorder. A mood disorder characterized by extreme shifts in mood, energy levels, and activity levels.
subclass of: Bipolar disorder

X x-linked agammaglobulinemia (xla)
type: Class
comment: A genetic disorder that affects the production of antibodies, leading to recurrent bacterial infections.
subclass of: B cell deficiency disorders
subclass of: Monogenic hematologic disorders
subclass of: Monogenic immunologic disorders
subclass of: Combined immunodeficiencies
subclass of: Hematological genetic rare diseases
subclass of: X-linked recessive rare diseases

Autosomal dominant polycystic kidney disease
type: Class
comment: 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.
subclass of: Polycystic kidney disease
subclass of: Monogenic renal disorders
subclass of: Autosomal dominant rare diseases

Mitochondrial diabetes
type: Class
comment: A form of diabetes that is caused by mutations in mitochondrial DNA, leading to impaired insulin production and glucose metabolism.
subclass of: Mitochondrial diseases
subclass of: Disorders of mitochondrial metabolism
subclass of: Inborn errors of metabolism
subclass of: Organ-specific metabolic genetic diseases
subclass of: Mitochondrial rare diseases

Meniere's disease
type: Class
comment: 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.
subclass of: Otologic disorders

Tick-borne infections
type: Class
comment: 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.
subclass of: Zoonotic vector-borne infections

Cholesteatoma
type: Class
comment: An abnormal growth of skin cells in the middle ear that can cause hearing loss and ear infections.
subclass of: Ear infections

Ovarian cysts
type: Class
comment: Fluid-filled sacs that develop on the ovaries, which can cause pain and hormonal imbalances.
subclass of: Reproductive system disorders

Inflammatory bowel disease (ibd)-associated colorectal cancer
type: Class
comment: Colorectal cancer that develops in individuals with inflammatory bowel diseases such as Crohn's disease or ulcerative colitis.
subclass of: Colorectal cancer
subclass of: Gastrointestinal diseases

Is congenital heart disease
type: Class
comment: 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.
subclass of: Heart disease

Mucinous carcinoma
type: Class
comment: A subtype of ovarian cancer characterized by the presence of mucin-producing cells.
subclass of: Epithelial ovarian cancer

Pediatric rare cancers
type: Class
comment: Rare cancers that specifically occur in children and adolescents, often requiring specialized treatment approaches.
subclass of: Pediatric cancers
subclass of: Support and advocacy for rare cancer patients

Hyperthyroidism
type: Class
comment: A condition in which the thyroid gland produces excessive amounts of thyroid hormones, resulting in an overactive metabolism.
subclass of: Hormonal imbalance
subclass of: Metabolic disorders
subclass of: Thyroid disorders

Premature ovarian insufficiency (poi)
type: Class
comment: Early depletion or dysfunction of the ovaries, leading to a decrease in reproductive hormone production and potential infertility.
subclass of: Infertility
subclass of: Rare diseases
subclass of: Gonadal disorders

Pelvic inflammatory disease (pid)
type: Class
comment: 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.
subclass of: Reproductive system disorders
subclass of: Bacterial infections

Rectal cancer
type: Class
comment: Colorectal cancer that specifically affects the rectum, the last part of the large intestine.
subclass of: Colorectal cancer

Add primary adrenal insufficiency
type: Class
comment: Also known as Addison's disease, it is a condition where the adrenal glands do not produce enough hormones.
subclass of: Adrenal insufficiency

Gout
type: Class
comment: A form of arthritis characterized by sudden, severe attacks of pain, redness, and tenderness in joints.
subclass of: Musculoskeletal disorders

X ichthyosis
type: Class
comment: A rare genetic disorder that primarily affects males and causes dry, scaly skin similar to ichthyosis, but with more severe symptoms.
subclass of: Ichthyosis
subclass of: Monogenic dermatologic disorders
subclass of: X-linked recessive rare diseases

Cutis laxa
type: Class
comment: 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.
subclass of: Genetic dermatosis

Dermatosis crurum
type: Class
comment: Describes skin conditions that specifically affect the skin of the legs or groin area.
subclass of: Dermatosis

X chronic granulomatous disease (cgd)
type: Class
comment: 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.
subclass of: Congenital immunodeficiency disorders
subclass of: Chronic diseases
subclass of: Phagocytic immunodeficiencies
subclass of: Monogenic immunologic disorders

Sinusitis
type: Class
comment: Inflammation of the sinuses, often caused by infection or allergies, leading to symptoms such as facial pain and pressure.
subclass of: Nasal disorders

Sjögren's syndrome
type: Class
comment: An autoimmune disease that primarily affects the salivary and tear glands, leading to dry mouth and eyes.
subclass of: Autoimmune diseases
subclass of: Rare diseases

Chlamydia infections
type: Class
comment: Chlamydia infections are caused by the bacteria Chlamydia trachomatis and can affect the reproductive organs, eyes, and respiratory system.
subclass of: Sexually transmitted infections
subclass of: Bacterial infections
subclass of: Reproductive system disorders

Oral infections
type: Class
comment: Refers to various infections that can occur in the mouth, including oral thrush, cold sores, and canker sores.
subclass of: Infectious diseases
subclass of: Dental diseases

Opioid use disorder
type: Class
comment: 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.
subclass of: Drug addiction

Obesity
type: Class
comment: A condition characterized by excessive body weight and an accumulation of fat, often resulting from an imbalance between calorie intake and energy expenditure.
subclass of: Metabolic disorders
subclass of: Nutritional disorders

Polycythemia vera
type: Class
comment: A disorder characterized by the overproduction of red blood cells, leading to an increased viscosity of the blood.
subclass of: Blood disorders
subclass of: Chronic diseases

Prader-willi syndrome
type: Class
comment: Prader-willi syndrome is a genetic disorder characterized by poor muscle tone, feeding difficulties, delayed development, and intellectual disabilities.
subclass of: Chromosomal genetic diseases
subclass of: Overgrowth syndromes
subclass of: Genetic growth disorders
subclass of: Monogenic disorders
subclass of: Syndromic inherited rare diseases

Clear cell ovarian cancer
type: Class
comment: A specific subtype of ovarian cancer characterized by the presence of clear cells.
subclass of: Epithelial ovarian cancer
subclass of: Clear cell carcinoma

Pituitary adenoma
type: Class
comment: A noncancerous tumor that develops in the pituitary gland, a small gland located at the base of the brain.
subclass of: Pituitary gland disorders
subclass of: Pituitary tumors

Psoriatic arthritis
type: Class
comment: A type of arthritis that affects some individuals with psoriasis, causing joint pain, stiffness, and swelling, often accompanied by skin and nail changes.
subclass of: Autoimmune diseases
subclass of: Arthritis

Hyperlipoproteinemia
type: Class
comment: 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.
subclass of: Blood disorders
subclass of: Hyperlipidemias

Narcolepsy
type: Class
comment: Narcolepsy is a neurological disorder that causes excessive daytime sleepiness and sudden, uncontrollable episodes of falling asleep.
subclass of: Sleep disorders
subclass of: Neurological diseases

Nasal tumors
type: Class
comment: Abnormal growths or masses that can develop in the nasal cavity or sinuses, which may be benign or malignant.
subclass of: Nasal disorders

Adrenal nodular hyperplasia
type: Class
comment: A condition characterized by the development of multiple nodules in the adrenal glands, leading to hormone imbalances.
subclass of: Hormone overproduction

Filariasis
type: Class
comment: A parasitic infection caused by filarial worms transmitted through mosquito bites, resulting in lymphatic and/or subcutaneous tissue damage.
subclass of: Helminthic infections
subclass of: Mosquito-borne infections

Nephronophthisis
type: Class
comment: A group of genetic disorders that cause progressive degeneration of the kidneys' tubules, leading to chronic kidney disease and eventual kidney failure.
subclass of: Autosomal recessive disorders
subclass of: Monogenic renal disorders

Fanconi anemia
type: Class
comment: A rare inherited disorder that affects the bone marrow and leads to bone marrow failure, increased risk of cancer, and physical abnormalities.
subclass of: Chromosomal disorders
subclass of: Autosomal recessive disorders
subclass of: Monogenic hematologic disorders
subclass of: Hematological genetic rare diseases

Mitochondrial nephropathy
type: Class
comment: Mitochondrial nephropathy refers to a group of mitochondrial diseases that primarily affect the kidneys, leading to kidney dysfunction.
subclass of: Primary mitochondrial diseases
subclass of: Organ-specific metabolic rare diseases

Mitochondrial myopathy with leukoencephalopathy
type: Class
comment: This mitochondrial disease is characterized by muscle weakness and the presence of leukoencephalopathy, which is a disorder affecting the white matter of the brain.
subclass of: Oxidative phosphorylation disorders
subclass of: Mitochondrial leukoencephalopathy
subclass of: Mitochondrial myopathy
subclass of: Organ-specific metabolic genetic diseases
subclass of: Mitochondrial neurological genetic diseases
subclass of: Neurogenetic syndromes
subclass of: Syndromic inherited rare diseases
subclass of: Neuromuscular rare diseases

Gastrointestinal stromal tumors
type: Class
comment: Gastrointestinal stromal tumors (GISTs) are rare tumors that develop in the gastrointestinal tract, typically in the stomach or small intestine.
subclass of: Sarcomas

Acquired mitochondrial diseases
type: Class
comment: Mitochondrial diseases that are not inherited but develop later in life due to various factors, such as exposure to toxins or certain medications.
subclass of: Mitochondrial diseases

Nail fungal infections
type: Class
comment: Fungal infections that specifically affect the nails, causing discoloration, thickening, and brittleness of the nails.
subclass of: Nail

Wiskott-aldrich syndrome (was)
type: Class
comment: 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.
subclass of: Primary antibody deficiencies
subclass of: Wiskott-aldrich syndrome
subclass of: Combined immunodeficiencies
subclass of: Organ-specific autoimmune rare diseases

Seborrheic dermatitis
type: Class
comment: A common skin condition that causes red, scaly patches and dandruff, often affecting the scalp, face, and other oily areas of the body.
subclass of: Dermatitis
subclass of: Inflammatory dermatosis

Juvenile polyposis syndrome
type: Class
comment: A condition characterized by the development of multiple polyps in the gastrointestinal tract, particularly in the colon and rectum, during childhood.
subclass of: Single gene genetic diseases
subclass of: Gastrointestinal polyposis syndromes
subclass of: Mendelian disorders
subclass of: Gastrointestinal genetic rare diseases
subclass of: Gastrointestinal inherited rare diseases
subclass of: Syndromic inherited rare diseases

Tumors
type: Class
comment: Abnormal growths in the pituitary gland that can be either benign or malignant, causing hormonal imbalances and other complications.
subclass of: Cancer
subclass of: Pituitary tumors

Nummular dermatitis
type: Class
comment: A type of dermatitis that presents as coin-shaped patches of irritated and itchy skin.
subclass of: Eczematous dermatosis

Mitochondrial dna depletion syndromes
type: Class
comment: 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.
subclass of: Mitochondrial depletion syndromes
subclass of: Syndromic inherited rare diseases
subclass of: Organ-specific metabolic rare diseases

Common variable immunodeficiency (cvid)
type: Class
comment: 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.
subclass of: Primary immunodeficiency disorders
subclass of: Seprimary immunodeficiency disorders
subclass of: Chronic diseases

Ich ichthyosis
type: Class
comment: Ich ichthyosis is a subcategory of Dermatological genetic diseases. Genetic disorders that primarily affect the skin, causing various skin abnormalities and conditions.
subclass of: Genetic dermatosis

Peroxisomal disorders
type: Class
comment: 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.
subclass of: Inborn errors of metabolism
subclass of: Organ-specific metabolic genetic diseases
subclass of: Organ-specific metabolic rare diseases

Invasive lobular carcinoma (ilc)
type: Class
comment: Breast cancer that starts in the milk-producing glands (lobules) and spreads to nearby tissues.
subclass of: Invasive lobular carcinoma
subclass of: Localized breast cancer

Major depressive disorder with melancholic features
type: Class
comment: 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.
subclass of: Major depressive disorder

Peutz-jeghers syndrome
type: Class
comment: 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.
subclass of: Gastrointestinal polyposis syndromes
subclass of: Congenital gastrointestinal genetic disorders
subclass of: Mendelian disorders
subclass of: Gastrointestinal genetic rare diseases
subclass of: Syndromic inherited rare diseases

Epidermolysis bullosa
type: Class
comment: 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.
subclass of: Monogenic dermatologic disorders

Amenorrhea
type: Class
comment: Absence or cessation of menstrual periods.
subclass of: Menstrual disorders
subclass of: Gonadal disorders

Hallucinogen use disorder
type: Class
comment: A disorder characterized by the misuse or dependence on hallucinogenic substances, resulting in altered perceptions, thoughts, and emotions.
subclass of: Drug addiction

Laryngitis
type: Class
comment: Inflammation of the larynx, which can cause hoarseness or loss of voice.
subclass of: Throat disorders

Acoustic neuroma
type: Class
comment: A noncancerous tumor that develops on the nerve responsible for balance and hearing.
subclass of: Otologic disorders
subclass of: Neurological diseases

Cytomegalovirus infection
type: Class
comment: A viral infection caused by the cytomegalovirus (CMV), which can affect various organs, particularly in individuals with weakened immune systems.
subclass of: Viral opportunistic infections

Social anxiety disorder
type: Class
comment: 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.
subclass of: Anxiety disorders

Rett syndrome
type: Class
comment: 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.
subclass of: Monogenic neurodevelopmental disorders
subclass of: Syndromic inherited rare diseases

Brain abscess
type: Class
comment: A localized infection in the brain, characterized by the formation of a pocket of pus.
subclass of: Bacterial infections
subclass of: Central nervous system infections

Osteopetrosis
type: Class
comment: Abnormal hardening or increased density of bone tissue, often leading to bone fragility, pain, and limited mobility.
subclass of: Bone dysplasias
subclass of: Mendelian disorders

Pituitary genetic diseases
type: Class
comment: Genetic disorders that impact the pituitary gland, which controls the release of various hormones that regulate growth, metabolism, and other bodily functions.
subclass of: Genetic growth disorders
subclass of: Endocrine genetic diseases

Chronic bronchitis
type: Class
comment: A type of COPD characterized by inflammation and narrowing of the bronchial tubes, leading to persistent cough and excessive mucus production.
subclass of: Chronic obstructive pulmonary disease (copd)
subclass of: Bronchitis

Thalassemias
type: Class
comment: A group of inherited blood disorders that affect the production of hemoglobin, leading to anemia and other complications.
subclass of: Hemoglobinopathies
subclass of: Autosomal recessive disorders

Erectile dysfunction
type: Class
comment: The inability to achieve or maintain an erection sufficient for sexual intercourse.
subclass of: Reproductive system disorders

Otitis media
type: Class
comment: Infection or inflammation of the middle ear, often occurring in children and causing ear pain, fluid buildup, and temporary hearing loss.
subclass of: Ear infections

Mitochondrial encephalomyopathies
type: Class
comment: A group of disorders characterized by mitochondrial dysfunction, affecting the brain and muscles, leading to a range of neurological and muscular symptoms.
subclass of: Oxidative phosphorylation disorders
subclass of: Mitochondrial encephalomyopathy
subclass of: Secondary mitochondrial diseases
subclass of: Mitochondrial encephalopathy
subclass of: Inborn errors of metabolism
subclass of: Organ-specific metabolic genetic diseases
subclass of: Syndromic inherited rare diseases
subclass of: Degenerative neurological rare diseases

Thyroid genetic diseases
type: Class
comment: Genetic disorders that affect the thyroid gland, which produces hormones that regulate metabolism and other important functions.
subclass of: Endocrine genetic diseases
subclass of: Thyroid disorders

Rheumatoid arthritis
type: Class
comment: An autoimmune disorder that primarily affects the joints, causing pain, swelling, and stiffness.
subclass of: Autoimmune diseases
subclass of: Arthritis

Corneal dystrophies
type: Class
comment: 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.
subclass of: Ophthalmological genetic diseases

Osteoporosis-pseudoglioma syndrome
type: Class
comment: A genetic disorder characterized by severe osteoporosis and visual impairments.
subclass of: Monogenic skeletal disorders
subclass of: Syndromic inherited rare diseases

Strabismus
type: Class
comment: 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.
subclass of: Eye diseases

Rare urologic cancers
type: Class
comment: 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.
subclass of: Genitourinary rare cancers

Neuroendocrine colorectal cancer
type: Class
comment: A rare type of colorectal cancer that arises from neuroendocrine cells and can produce hormones.
subclass of: Colorectal cancer

Scoliosis
type: Class
comment: Abnormal sideways curvature of the spine.
subclass of: Musculoskeletal disorders

Y-linked disorders
type: Class
comment: Disorders caused by mutations in genes on the Y chromosome.
subclass of: Sex chromosome disorders
subclass of: Mendelian disorders

Basal cell carcinoma
type: Class
comment: The most common type of skin cancer that develops in the basal cells of the skin's outermost layer.
subclass of: Skin cancer

Burkitt lymphoma
type: Class
comment: A highly aggressive form of lymphoma that primarily affects children and young adults.
subclass of: Non-hodgkin lymphoma

Invasive ductal carcinoma (idc)
type: Class
comment: The most common type of breast cancer, where cancer cells invade the surrounding breast tissue.
subclass of: Invasive ductal carcinoma

Early-onset colorectal cancer
type: Class
comment: Colorectal cancer that occurs at a younger age than typical cases.
subclass of: Colon cancer

Helicobacter pylori infection
type: Class
comment: 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.
subclass of: Gastrointestinal infections
subclass of: Bacterial infections

Keratoconus
type: Class
comment: Keratoconus is a progressive eye disorder where the cornea thins and bulges into a cone shape, causing distorted vision and sensitivity to light.
subclass of: Eye diseases

Narp (neuropathy
type: Class
comment: 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.
subclass of: Inherited mitochondrial diseases

Inflammatory bowel disease-associated genetic disorders
type: Class
comment: Genetic factors that contribute to the development of inflammatory bowel diseases, such as Crohn's disease and ulcerative colitis.
subclass of: Gastrointestinal genetic diseases
subclass of: Multifactorial genetic diseases

Noise-induced hearing loss
type: Class
comment: Hearing loss caused by prolonged exposure to loud noises, damaging the hair cells in the inner ear.
subclass of: Acquired hearing loss

Ich neurofibromatosis type 1
type: Class
comment: Ich neurofibromatosis type 1 is a subcategory of Dermatological genetic diseases. Genetic disorders that primarily affect the skin, causing various skin abnormalities and conditions.
subclass of: Dermatological genetic diseases

Fibromyalgia
type: Class
comment: Chronic pain condition characterized by widespread musculoskeletal pain, fatigue, and tenderness.
subclass of: Musculoskeletal diseases

Brucellosis
type: Class
comment: 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.
subclass of: Bacterial zoonotic infections

Diabetic retinopathy
type: Class
comment: 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.
subclass of: Eye diseases

Autoimmune pancreatitis
type: Class
comment: A rare form of chronic pancreatitis caused by an autoimmune reaction, leading to inflammation and damage to the pancreas.
subclass of: Organ-specific autoimmune rare diseases

Uveitis
type: Class
comment: 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.
subclass of: Eye diseases

Mitochondrial myopathy with leukodystrophy
type: Class
comment: This mitochondrial disease is characterized by muscle weakness and the presence of leukodystrophy, which is a disorder affecting the white matter of the brain.
subclass of: Mitochondrial leukodystrophy
subclass of: Mitochondrial myopathy
subclass of: Developmental neurological genetic diseases
subclass of: Syndromic inherited rare diseases
subclass of: Neuromuscular rare diseases
subclass of: Congenital neurological rare diseases

Metastatic colorectal cancer
type: Class
comment: Colorectal cancer that has spread to other parts of the body, such as the liver or lungs.
subclass of: Colon cancer

Granulomatous dermatosis
type: Class
comment: 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.
subclass of: Rare diseases
subclass of: Inflammatory dermatosis

Glioblastoma
type: Class
comment: The most aggressive and malignant brain tumors, also known as glioblastomas, which tend to grow rapidly and are associated with a poor prognosis.
subclass of: Gliomas

Diverticular disease
type: Class
comment: The formation of small pouches in the colon that can become inflamed or infected.
subclass of: Gastrointestinal diseases

Mitochondrial retinopathy
type: Class
comment: Mitochondrial retinopathy refers to a group of mitochondrial diseases that primarily affect the retina of the eye, leading to retinopathy.
subclass of: Ophthalmological genetic diseases
subclass of: Inherited mitochondrial diseases
subclass of: Mitochondrial rare diseases

Grade ii brain tumors
type: Class
comment: Intermediate-grade brain tumors that are more aggressive than grade i tumors but less aggressive than higher-grade tumors.
subclass of: Brain cancer

Becker muscular dystrophy
type: Class
comment: A genetic disorder characterized by progressive muscle weakness and wasting, typically starting in the legs and pelvis.
subclass of: Musculoskeletal disorders
subclass of: Muscular genetic diseases
subclass of: Monogenic disorders

Chronic kidney disease
type: Class
comment: A long-term condition where the kidneys gradually lose their ability to function properly.
subclass of: Kidney disease

Mitochondrial hepatopathy
type: Class
comment: Liver disorders caused by mitochondrial dysfunction, leading to impaired liver function and various liver-related symptoms.
subclass of: Primary mitochondrial diseases
subclass of: Organ-specific metabolic rare diseases

Germ cell ovarian cancer
type: Class
comment: This type of ovarian cancer develops in the cells that produce eggs and is more common in younger women.
subclass of: Ovarian cancer

Pituitary gigantism
type: Class
comment: Pituitary gigantism is a rare condition caused by an overproduction of growth hormone from the pituitary gland, leading to excessive growth and abnormal height.
subclass of: Hormone deficiency disorders
subclass of: Hyperpituitarism
subclass of: Rare diseases

Prostate cancer prevention
type: Class
comment: Strategies and measures aimed at reducing the risk of developing prostate cancer or preventing its progression.
subclass of: Prostate cancer

Triple-negative breast cancer (tnbc)
type: Class
comment: A subtype of breast cancer that lacks estrogen receptors, progesterone receptors, and HER2 protein.
subclass of: Triple-negative breast cancer

Dermatosis punctata
type: Class
comment: A condition characterized by the presence of small, punctate spots or lesions on the skin.
subclass of: Dermatosis

Facioscapulohumeral muscular dystrophy
type: Class
comment: A genetic disorder that primarily affects the muscles of the face, shoulders, and upper arms, causing progressive muscle weakness and wasting.
subclass of: Musculoskeletal disorders
subclass of: Muscular genetic diseases
subclass of: Monogenic disorders

Pituitary tumor syndromes
type: Class
comment: 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.
subclass of: Pituitary tumors
subclass of: Pituitary gland disorders
subclass of: Rare diseases

X-linked selective iga deficiency
type: Class
comment: 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.
subclass of: Selective iga deficiency
subclass of: B cell deficiencies
subclass of: Primary antibody deficiencies
subclass of: Monogenic immunologic disorders
subclass of: Antibody deficiencies

X job syndrome (hyper ige syndrome)
type: Class
comment: A rare immune disorder characterized by recurrent infections, eczema, and high levels of immunoglobulin E (IgE).
subclass of: X hyper ige syndrome (hies)
subclass of: Hyper ige syndrome (hies)

Hepatitis b
type: Class
comment: Hepatitis B is a viral infection that affects the liver and is transmitted through contact with infected blood or other body fluids.
subclass of: Bloodborne infections
subclass of: Viral infections

Ectoparasitic infections
type: Class
comment: Parasitic infections caused by organisms that live on the external surface of the host, such as lice, fleas, ticks, and mites.
subclass of: Vector-borne infections
subclass of: Parasitic infections
subclass of: Infectious skin diseases

Pituitary apoplexy
type: Class
comment: 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.
subclass of: Pituitary disorders

Genital herpes
type: Class
comment: 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.
subclass of: Genital infections

Large cell carcinoma
type: Class
comment: A type of lung cancer that is characterized by the presence of large, abnormal cells.
subclass of: Non-small cell lung cancer

Res leigh syndrome
type: Class
comment: Res Leigh syndrome refers to a group of mitochondrial diseases that resemble Leigh syndrome, a severe neurological disorder characterized by progressive brain damage.
subclass of: Inherited mitochondrial diseases
subclass of: Mitochondrial rare diseases

Hereditary colorectal cancer syndrome
type: Class
comment: Genetic disorders that increase the risk of developing colorectal cancer, often associated with the development of polyps in the colon and rectum.
subclass of: Gastrointestinal genetic diseases
subclass of: Genetic rare diseases
subclass of: Cancer predisposition syndromes

Charcot-marie-tooth disease
type: Class
comment: This is a group of inherited neurological disorders that primarily affect the peripheral nerves, leading to muscle weakness and sensory loss in the limbs.
subclass of: Neuropathy
subclass of: Muscular genetic diseases
subclass of: Monogenic disorders
subclass of: Neuromuscular rare diseases
subclass of: Genetic neurological rare diseases

Medullary cystic kidney disease
type: Class
comment: A genetic disorder characterized by the formation of cysts in the medulla, or inner region, of the kidneys, leading to progressive kidney damage.
subclass of: Tubular diseases
subclass of: Renal cystic diseases
subclass of: Renal inherited rare diseases

Chondrodysplasia punctata
type: Class
comment: A group of genetic disorders that affect bone and cartilage development, resulting in abnormal growth and skeletal abnormalities.
subclass of: Mendelian disorders
subclass of: Skeletal genetic rare diseases
subclass of: Syndromic inherited rare diseases

Parathyroid genetic diseases
type: Class
comment: Genetic disorders that affect the parathyroid glands, which regulate calcium levels in the body.
subclass of: Parathyroid disorders
subclass of: Non-syndromic endocrine genetic diseases

Central nervous system rare cancers
type: Class
comment: 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.
subclass of: Uncommon cancers

Familial adenomatous polyposis (fap)
type: Class
comment: A genetic condition characterized by the development of numerous polyps in the colon and rectum, leading to a high risk of colorectal cancer.
subclass of: Familial adenomatous polyposis
subclass of: Chronic diseases

X common variable immunodeficiency (cvid)
type: Class
comment: CVID is a primary immunodeficiency disorder characterized by low levels of immunoglobulins, particularly IgG, and an increased susceptibility to recurrent bacterial infections.
subclass of: Primary immunodeficiency disorders
subclass of: Immunodeficiency genetic diseases
subclass of: Seprimary immunodeficiency disorders

Emery-dreifuss muscular dystrophy
type: Class
comment: A rare genetic disorder that primarily affects the muscles of the upper arms, lower legs, and heart, leading to muscle weakness and joint stiffness.
subclass of: Musculoskeletal disorders
subclass of: Muscular genetic diseases
subclass of: Monogenic disorders
subclass of: Syndromic inherited rare diseases

Limb-girdle muscular dystrophy
type: Class
comment: A group of genetic disorders that primarily affect the muscles of the hips and shoulders, leading to progressive muscle weakness and wasting.
subclass of: Musculoskeletal disorders
subclass of: Muscular genetic diseases
subclass of: Monogenic disorders

Angelman syndrome
type: Class
comment: A neurodevelopmental disorder characterized by severe intellectual disability, speech impairment, motor and balance problems, and a happy and excitable demeanor.
subclass of: Chromosomal disorders
subclass of: Single gene genetic diseases
subclass of: Mendelian disorders
subclass of: Syndromic inherited rare diseases

G6pd deficiency
type: Class
comment: 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.
subclass of: Hemoglobinopathies
subclass of: Enzyme deficiencies
subclass of: Organ-specific metabolic genetic diseases
subclass of: Autosomal recessive disorders
subclass of: Monogenic metabolic disorders

Niemann-pick disease
type: Class
comment: 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.
subclass of: Lysosomal storage diseases
subclass of: Monogenic metabolic disorders
subclass of: Sphingolipid metabolism disorders
subclass of: Lipid storage disorders
subclass of: Autosomal recessive rare diseases
subclass of: Syndromic inherited rare diseases

Giardiasis
type: Class
comment: A parasitic infection caused by the Giardia parasite, typically contracted through contaminated food or water, leading to gastrointestinal symptoms.
subclass of: Intestinal parasites
subclass of: Protozoal infections

Genitourinary infections
type: Class
comment: Opportunistic infections that affect the genital and urinary systems, including the kidneys, bladder, urethra, and reproductive organs.
subclass of: Bacterial infections
subclass of: Opportunistic infections

Medulloblastoma
type: Class
comment: A fast-growing tumor that primarily affects children and arises in the lower back part of the brain.
subclass of: Malignant brain tumors

Parkinson's disease
type: Class
comment: A degenerative disorder that affects movement, causing tremors, stiffness, and difficulty with balance and coordination.
subclass of: Neurodegenerative diseases

Amoebiasis
type: Class
comment: A parasitic infection caused by the amoeba parasite, which primarily affects the intestines but can also spread to other organs.
subclass of: Intestinal parasites
subclass of: Protozoal infections

Erythema multiforme
type: Class
comment: Erythema multiforme is a hypersensitivity reaction that causes target-like or bull's eye-shaped skin lesions, often triggered by infections or medications.
subclass of: Inflammatory dermatosis

Transitional cell carcinoma
type: Class
comment: Refers to the most common type of bladder cancer, which starts in the cells lining the inside of the bladder.
subclass of: Bladder cancer

Oligodendrogliomas
type: Class
comment: Tumors that arise from oligodendrocytes, a type of glial cell that produces myelin in the brain.
subclass of: Gliomas
subclass of: Low-grade gliomas

Metastatic brain tumors
type: Class
comment: Tumors that have spread to the brain from cancer originating in other parts of the body.
subclass of: Brain cancer

Localized prostate cancer
type: Class
comment: Denotes prostate cancer that is confined to the prostate gland and has not spread to other parts of the body.
subclass of: Localized

Congestive heart failure
type: Class
comment: Heart failure accompanied by fluid buildup in the body.
subclass of: Is heart failure
subclass of: Heart failure

Thyroid nodules
type: Class
comment: Abnormal growths or lumps that form within the thyroid gland, which can be benign (non-cancerous) or malignant (cancerous).
subclass of: Thyroid disorders

Corticobasal degeneration
type: Class
comment: 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.
subclass of: Neurodegenerative diseases
subclass of: Degenerative neurological rare diseases

Leishmaniasis
type: Class
comment: A parasitic infection transmitted by sandflies that can cause skin sores, ulcers, and damage to internal organs.
subclass of: Protozoal infections
subclass of: Zoonotic vector-borne infections
subclass of: Parasitic zoonotic infections

Glycogen storage diseases
type: Class
comment: 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.
subclass of: Chronic diseases
subclass of: Genetic rare diseases
subclass of: Enzyme deficiencies
subclass of: Organ-specific metabolic genetic diseases
subclass of: Mendelian disorders
subclass of: Organ-specific metabolic rare diseases

Glomerular diseases
type: Class
comment: A group of conditions that affect the glomeruli, leading to impaired kidney function and the leakage of blood and protein into the urine.
subclass of: Glomerulonephritis
subclass of: Kidney disease

Stargardt disease
type: Class
comment: 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.
subclass of: Retinal dystrophies
subclass of: Monogenic ophthalmic disorders

Bipolar ii disorder
type: Class
comment: A form of bipolar disorder characterized by recurrent episodes of major depression and hypomania.
subclass of: Bipolar disorder

Neoplastic dermatosis
type: Class
comment: Includes skin disorders that involve the abnormal growth of cells, leading to the development of tumors or cancerous lesions.
subclass of: Dermatosis
subclass of: Neoplastic skin diseases

Iron deficiency anemia
type: Class
comment: 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.
subclass of: Anemia

Allergic contact dermatitis
type: Class
comment: A type of dermatitis that occurs when the skin comes into contact with a substance that triggers an allergic reaction.
subclass of: Contact dermatitis
subclass of: Allergic dermatosis
subclass of: Inflammatory dermatosis

Ring chromosome disorder
type: Class
comment: 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.
subclass of: Chromosomal genetic diseases

Autosomal recessive polycystic kidney disease
type: Class
comment: A genetic disorder that affects the development of the kidneys, leading to the formation of cysts and potential complications.
subclass of: Monogenic renal disorders
subclass of: Autosomal recessive rare diseases

Juvenile idiopathic arthritis
type: Class
comment: A type of arthritis that occurs in children and adolescents, characterized by joint inflammation and stiffness.
subclass of: Autoimmune diseases
subclass of: Arthritis

Lewy body dementia
type: Class
comment: 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.
subclass of: Neurodegenerative diseases
subclass of: Dementia

Uterine fibroids
type: Class
comment: Noncancerous growths that develop in the uterus, which can cause heavy or painful periods, pelvic pain, and fertility problems.
subclass of: Reproductive system disorders

Hyper igm syndrome
type: Class
comment: 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.
subclass of: Autoimmune rare diseases
subclass of: Monogenic hematologic disorders
subclass of: Monogenic immunologic disorders
subclass of: B-cell immunodeficiencies

Viral meningitis
type: Class
comment: Meningitis caused by a viral infection, usually less severe than bacterial meningitis.
subclass of: Neurological viral infections

Hereditary spherocytosis
type: Class
comment: This is an inherited condition where red blood cells have a spherical shape instead of the normal disc shape, leading to their premature destruction.
subclass of: Monogenic hematologic disorders
subclass of: Hematological genetic rare diseases

West nile virus infection
type: Class
comment: 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.
subclass of: Arboviral infections
subclass of: Viral zoonotic infections

Irregular sleep-wake rhythm disorder
type: Class
comment: This circadian rhythm disorder is characterized by a disrupted sleep pattern, with no clear distinction between periods of sleep and wakefulness.
subclass of: Circadian rhythm disorders

Hiv/aids
type: Class
comment: 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.
subclass of: Sexually transmitted infections
subclass of: Immunodeficiency disorders
subclass of: Bloodborne infections
subclass of: Viral infections

Complement deficiencies
type: Class
comment: 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.
subclass of: Immunodeficiency disorders

Cushing's syndrome
type: Class
comment: A condition caused by prolonged exposure to high levels of cortisol, a hormone produced by the adrenal glands.
subclass of: Hormone overproduction

Small cell lung cancer
type: Class
comment: A type of lung cancer that typically grows and spreads quickly. It is often associated with smoking and tends to respond well to chemotherapy.
subclass of: Lung cancer

High-grade bladder cancer
type: Class
comment: Refers to bladder cancer that is characterized by aggressive and fast-growing cancer cells.
subclass of: Invasive bladder cancer

Muscle-invasive bladder cancer
type: Class
comment: 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.
subclass of: Muscle invasive bladder cancer

Parasitic gastroenteritis
type: Class
comment: Infections caused by parasites that affect the gastrointestinal system.
subclass of: Gastroenteritis
subclass of: Intestinal parasites

Bacterial rare infectious diseases
type: Class
comment: Rare infectious diseases caused by bacterial pathogens. These diseases can affect various body systems and may require specific antibiotic treatments.
subclass of: Bacterial infections
subclass of: Rare infectious diseases

Is peripheral artery disease
type: Class
comment: 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.
subclass of: Cardiovascular diseases

Chronic myeloid leukemia
type: Class
comment: 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.
subclass of: Leukemia
subclass of: Chronic diseases

Adrenal hemorrhage
type: Class
comment: Occurs when there is bleeding into the adrenal glands, often due to trauma or certain medical conditions.
subclass of: Adrenal disorders

Vaginal fungal infections
type: Class
comment: Fungal infections that occur in the vagina, commonly known as yeast infections, causing itching, burning, and abnormal discharge.
subclass of: Reproductive system disorders
subclass of: Fungal infections

Bronchopulmonary dysplasia
type: Class
comment: 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.
subclass of: Chronic respiratory diseases

Hematologic rare cancers
type: Class
comment: Rare cancers that affect the blood and bone marrow, including various types of leukemia, lymphoma, and myeloma.
subclass of: Rare cancer research and clinical trials

Hypertriglyceridemia
type: Class
comment: A condition characterized by high levels of triglycerides in the blood, which can increase the risk of pancreatitis and cardiovascular disease.
subclass of: Hyperlipidemias

Bursitis
type: Class
comment: Inflammation of the bursae, small fluid-filled sacs that cushion the joints.
subclass of: Musculoskeletal disorders

Metaphyseal dysplasia
type: Class
comment: 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.
subclass of: Chondrodysplasias
subclass of: Skeletal dysplasias

Ad sarcoma
type: Class
comment: Ad sarcoma refers to rare types of soft tissue sarcomas that primarily affect the connective tissues in the body.
subclass of: Sarcoma

Homocystinuria
type: Class
comment: 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.
subclass of: Disorders of amino acid metabolism
subclass of: Enzyme deficiencies
subclass of: Organic acid metabolism disorders
subclass of: Organ-specific metabolic genetic diseases
subclass of: Autosomal recessive disorders
subclass of: Monogenic metabolic disorders
subclass of: Organ-specific metabolic rare diseases

Cone-rod dystrophy
type: Class
comment: 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.
subclass of: Genetic rare diseases
subclass of: Retinal dystrophies
subclass of: Mendelian disorders

Gastritis
type: Class
comment: Inflammation of the stomach lining.
subclass of: Gastrointestinal diseases

Gastroesophageal reflux disease (gerd)
type: Class
comment: A chronic condition where stomach acid flows back into the esophagus, causing symptoms like heartburn and acid regurgitation.
subclass of: Chronic diseases
subclass of: Gastroesophageal reflux disease

Follicular lymphoma
type: Class
comment: A slow-growing type of non-Hodgkin lymphoma that primarily affects the lymph nodes.
subclass of: Non-hodgkin lymphoma

Flea-borne infections
type: Class
comment: 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.
subclass of: Zoonotic vector-borne infections
subclass of: Parasitic zoonotic infections

Gestational diabetes
type: Class
comment: A type of diabetes that occurs during pregnancy and usually resolves after childbirth.
subclass of: Diabetes

Duchenne muscular dystrophy
type: Class
comment: A progressive muscle-wasting disorder caused by mutations in the dystrophin gene.
subclass of: Musculoskeletal disorders
subclass of: X-linked recessive diseases
subclass of: Muscular genetic diseases

Multiple sclerosis
type: Class
comment: An autoimmune disease that affects the central nervous system, leading to communication problems between the brain and the rest of the body.
subclass of: Autoimmune diseases
subclass of: Neurological diseases

Rheumatic heart disease
type: Class
comment: A condition caused by rheumatic fever, which can damage the heart valves and lead to various heart problems.
subclass of: Heart disease

Mantle cell lymphoma
type: Class
comment: A rare and aggressive type of non-Hodgkin lymphoma that typically affects older adults.
subclass of: Non-hodgkin lymphoma

Irritable bowel syndrome
type: Class
comment: A common disorder that affects the large intestine, causing symptoms like abdominal pain, bloating, and changes in bowel habits.
subclass of: Gastrointestinal diseases

Crohn's disease
type: Class
comment: A chronic inflammatory condition that primarily affects the gastrointestinal tract, causing inflammation and damage to the lining of the digestive system.
subclass of: Inflammatory bowel disease

Tobacco use disorder
type: Class
comment: 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.
subclass of: Substance use disorders

Patau syndrome
type: Class
comment: 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.
subclass of: Trisomy disorders
subclass of: Deletion syndromes

Gardner syndrome
type: Class
comment: 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.
subclass of: Autosomal dominant diseases
subclass of: Genetic rare diseases
subclass of: Gastrointestinal polyposis syndromes

Thyroid cancer
type: Class
comment: A type of cancer that develops in the cells of the thyroid gland, often characterized by the formation of abnormal growths or tumors.
subclass of: Cancer
subclass of: Thyroid disorders

Arrhythmogenic right ventricular cardiomyopathy
type: Class
comment: A condition where the heart muscle in the right ventricle is replaced by fatty or fibrous tissue, leading to abnormal heart rhythms.
subclass of: Arrhythmogenic cardiomyopathy

Bronchiectasis
type: Class
comment: A condition characterized by the widening and inflammation of the bronchial tubes, resulting in chronic cough, mucus production, and recurrent respiratory infections.
subclass of: Chronic respiratory diseases

Coronary artery disease
type: Class
comment: A condition where the arteries that supply blood to the heart become narrowed or blocked, leading to reduced blood flow to the heart muscle.
subclass of: Atherosclerosis

Pancreatitis
type: Class
comment: Inflammation of the pancreas.
subclass of: Gastrointestinal diseases

Digeorge syndrome
type: Class
comment: 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.
subclass of: Immunodeficiency disorders
subclass of: Deletion syndromes
subclass of: Monogenic immunologic disorders

Salmonellosis
type: Class
comment: A bacterial infection that is transmitted to humans through consumption of contaminated food, particularly undercooked poultry or eggs, causing diarrhea, fever, and abdominal cramps.
subclass of: Bacterial infections
subclass of: Food poisoning

Cystic fibrosis
type: Class
comment: 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.
subclass of: Chronic diseases
subclass of: Respiratory autosomal recessive diseases

Mixed hearing loss
type: Class
comment: 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.
subclass of: Hearing loss

Vascular dementia
type: Class
comment: 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.
subclass of: Dementia
subclass of: Chronic diseases

Oculopharyngeal muscular dystrophy
type: Class
comment: A genetic disorder that primarily affects the muscles of the eyes and throat, leading to droopy eyelids, difficulty swallowing, and muscle weakness.
subclass of: Muscular genetic diseases
subclass of: Monogenic disorders
subclass of: Syndromic inherited rare diseases

Is coronary artery disease
type: Class
comment: 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.
subclass of: Heart disease

Cholecystitis
type: Class
comment: Inflammation of the gallbladder, often caused by the presence of gallstones or infection.
subclass of: Gallbladder diseases

Protein-energy malnutrition
type: Class
comment: 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.
subclass of: Nutritional disorders

Multiple system atrophy (msa)
type: Class
comment: 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.
subclass of: Neurodegenerative diseases
subclass of: Degenerative neurological rare diseases

Glaucoma
type: Class
comment: 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.
subclass of: Eye diseases

Vascular ehlers-danlos syndrome
type: Class
comment: A genetic subtype of Ehlers-Danlos syndrome, a connective tissue disorder that can affect the heart and blood vessels.
subclass of: Cardiovascular genetic diseases
subclass of: Syndromic inherited rare diseases

Spinal cord infections
type: Class
comment: Spinal cord infections refer to infections that affect the spinal cord, leading to inflammation and potential damage to the nerves.
subclass of: Central nervous system infections

Rare bone cancers
type: Class
comment: Rare bone cancers encompass uncommon types of cancers that develop in the bones, including conditions like osteosarcoma, Ewing sarcoma, and chondrosarcoma.
subclass of: Sarcomas

Allergic rhinitis
type: Class
comment: Inflammation of the nasal passages caused by an allergic reaction.
subclass of: Rhinitis

Hives
type: Class
comment: Also known as urticaria, hives are raised, itchy welts on the skin that can appear suddenly and disappear within hours or days.
subclass of: Skin diseases

Ich xeroderma pigmentosum
type: Class
comment: Ich xeroderma pigmentosum is a subcategory of Dermatological genetic diseases. Genetic disorders that primarily affect the skin, causing various skin abnormalities and conditions.
subclass of: Pigmentary skin diseases
subclass of: Genetic dermatosis

Different treatment approaches for rare cancers
type: Class
comment: This subcategory focuses on exploring and developing unique treatment strategies for rare cancers, considering their distinct characteristics and challenges.
subclass of: Rare cancer research and clinical trials

Advanced delayed sleep-wake phase disorder
type: Class
comment: This circadian rhythm disorder is characterized by a consistent pattern of falling asleep and waking up later than desired.
subclass of: Circadian rhythm disorders

Irritant contact dermatitis
type: Class
comment: Similar to contact dermatitis, but occurs when the skin is exposed to irritating substances, such as chemicals or detergents, causing inflammation and skin damage.
subclass of: Dermatitis

Shift work sleep disorder
type: Class
comment: 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.
subclass of: Circadian rhythm disorders

Age-related hearing loss
type: Class
comment: Gradual hearing loss that occurs as a natural part of aging, typically affecting higher frequencies first.
subclass of: Hearing loss

Spinal muscular atrophy (sma)
type: Class
comment: This is a genetic disorder that affects the motor neurons in the spinal cord, leading to muscle weakness and atrophy.
subclass of: Spinal muscular atrophy
subclass of: Autosomal recessive rare diseases

Endometrioid ovarian cancer
type: Class
comment: A specific subtype of ovarian cancer that resembles the tissue lining the uterus.
subclass of: Epithelial ovarian cancer
subclass of: Endometrioid carcinoma

Bullous pemphigoid
type: Class
comment: Bullous pemphigoid is an autoimmune blistering disorder that causes large, tense blisters on the skin, typically affecting older adults.
subclass of: Inflammatory dermatosis
subclass of: Autoimmune skin diseases

Viral gastroenteritis
type: Class
comment: Infections caused by viruses, which can affect various organs and systems in the body and cause a wide range of symptoms.
subclass of: Acute gastroenteritis
subclass of: Viral infections

Renal artery stenosis
type: Class
comment: Narrowing of the arteries that supply blood to the kidneys, which can reduce blood flow and affect kidney function.
subclass of: Renal diseases

T-cell lymphoma
type: Class
comment: Lymphoma that originates in the T-cells, which are another type of white blood cell involved in the immune response.
subclass of: Non-hodgkin lymphoma

Arr familial thoracic aortic aneurysm and dissection
type: Class
comment: A genetic subtype of familial thoracic aortic aneurysm and dissection.
subclass of: Autosomal dominant diseases
subclass of: Familial thoracic aortic aneurysm and dissection
subclass of: Cardiovascular genetic rare diseases

Alpers syndrome
type: Class
comment: Alpers syndrome is a progressive neurodegenerative disorder that primarily affects children and is characterized by seizures, liver dysfunction, and developmental regression.
subclass of: Inherited mitochondrial diseases
subclass of: Disorders of mitochondrial metabolism
subclass of: Organic acid metabolism disorders
subclass of: Developmental neurological genetic diseases
subclass of: Mendelian disorders
subclass of: Mitochondrial rare diseases
subclass of: Syndromic inherited rare diseases
subclass of: Degenerative neurological rare diseases
subclass of: Genetic neurological rare diseases
subclass of: Metabolic neurological rare diseases

Dry eye syndrome
type: Class
comment: 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.
subclass of: Eye diseases

Vitiligo
type: Class
comment: A condition characterized by the loss of skin color in patches, resulting from the destruction of melanocytes, the cells responsible for producing pigment.
subclass of: Pigmentary skin diseases

Chronic lymphocytic leukemia
type: Class
comment: A slow-growing cancer that affects the white blood cells, specifically the lymphocytes, and typically progresses slowly over time.
subclass of: Leukemia
subclass of: Chronic diseases
subclass of: Rare blood cancers

Metabolic skin diseases
type: Class
comment: 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.
subclass of: Metabolic disorders
subclass of: Skin diseases
subclass of: Chronic diseases

Bronchial asthma
type: Class
comment: A chronic inflammatory disease that causes the airways to become narrow and inflamed, leading to symptoms such as wheezing, coughing, and shortness of breath.
subclass of: Asthma

Hemochromatosis
type: Class
comment: A disorder that causes the body to absorb too much iron from the diet, leading to iron overload in various organs.
subclass of: Blood disorders
subclass of: Mendelian disorders

Warts
type: Class
comment: Small, rough growths on the skin caused by the human papillomavirus (HPV), typically appearing on the hands, feet, or genitals.
subclass of: Dermatosis

Sleep apnea
type: Class
comment: 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.
subclass of: Sleep disorders

Migraine
type: Class
comment: A neurological condition characterized by recurrent headaches, often accompanied by other symptoms such as nausea and sensitivity to light and sound.
subclass of: Neurological diseases

Is valvular heart disease
type: Class
comment: 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.
subclass of: Heart disease

Omenn syndrome
type: Class
comment: 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.
subclass of: Sesevere combined immunodeficiency (scid)
subclass of: Syndromic inherited rare diseases

Serrated polyps and colorectal cancer
type: Class
comment: Colorectal cancer that arises from serrated polyps, a type of growth in the colon or rectum.
subclass of: Colorectal cancer

Vocal cord nodules
type: Class
comment: 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.
subclass of: Throat disorders

Melanoma
type: Class
comment: A more aggressive and potentially deadly form of skin cancer that develops in the melanocytes, the cells that produce pigment in the skin.
subclass of: Skin cancer

Hereditary elliptocytosis
type: Class
comment: 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.
subclass of: Hemoglobinopathies
subclass of: Autosomal recessive rare diseases

Strep throat
type: Class
comment: A specific type of sore throat caused by the Streptococcus bacteria.
subclass of: Pharyngitis
subclass of: Streptococcal infections

Lobular carcinoma in situ (lcis)
type: Class
comment: Abnormal cells are found in the lobules of the breast, but they do not spread to nearby tissues.
subclass of: Breast cancer

Carpal tunnel syndrome
type: Class
comment: Compression of the median nerve in the wrist, leading to pain, numbness, and weakness in the hand.
subclass of: Musculoskeletal disorders

Insomnia
type: Class
comment: Insomnia refers to the inability to fall asleep or stay asleep, resulting in poor quality and insufficient sleep.
subclass of: Sleep disorders

Dermatosis follicularis
type: Class
comment: Involves skin disorders that primarily affect the hair follicles, leading to various symptoms such as hair loss, follicular papules, or scarring.
subclass of: Dermatosis

X-linked hyper-igm syndrome
type: Class
comment: 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.
subclass of: B cell deficiency disorders
subclass of: Monogenic immunologic disorders
subclass of: Syndromic inherited rare diseases

Ductal carcinoma in situ (dcis)
type: Class
comment: Non-invasive breast cancer where abnormal cells are found in the lining of the breast ducts.
subclass of: Ductal carcinoma in situ

Cryptosporidiosis
type: Class
comment: A parasitic infection caused by the Cryptosporidium parasite, commonly found in contaminated water sources, leading to gastrointestinal symptoms.
subclass of: Protozoal infections

Systemic lupus erythematosus
type: Class
comment: A chronic autoimmune disease that can affect multiple organs and tissues, causing inflammation and damage.
subclass of: Autoimmune diseases

Cerebral palsy
type: Class
comment: A group of disorders that affect movement, muscle tone, and posture, often caused by brain damage before or during birth.
subclass of: Neurological diseases

Marfan syndrome
type: Class
comment: A genetic disorder that affects the connective tissues, leading to abnormalities in the skeletal system, heart, and blood vessels.
subclass of: Monogenic disorders

Treatment options for prostate cancer
type: Class
comment: Different approaches and modalities used to treat ovarian cancer, including surgery, chemotherapy, radiation therapy, targeted therapy, hormone therapy, and immunotherapy.
subclass of: Prostate cancer

Throat cancer
type: Class
comment: A malignant tumor that develops in the throat, potentially affecting the vocal cords, tonsils, or other throat structures.
subclass of: Cancer
subclass of: Throat disorders

Advanced advanced sleep-wake phase disorder
type: Class
comment: This is a circadian rhythm disorder characterized by a consistent pattern of falling asleep and waking up earlier than desired.
subclass of: Circadian rhythm disorders

Respiratory viral infections
type: Class
comment: Infections that affect the respiratory system, including the lungs and airways, causing conditions like pneumonia, bronchitis, or influenza.
subclass of: Viral infections
subclass of: Respiratory infections

Hemophilia
type: Class
comment: A genetic disorder that impairs the body's ability to control blood clotting, resulting in prolonged bleeding.
subclass of: Blood disorders
subclass of: Genetic rare diseases
subclass of: Rare genetic disorders
subclass of: Mendelian disorders

Vertigo
type: Class
comment: A sensation of spinning or dizziness, often associated with inner ear problems, causing a loss of balance and coordination.
subclass of: Otologic disorders

Japanese encephalitis
type: Class
comment: A viral infection transmitted by mosquitoes that affects the brain and can cause inflammation, leading to symptoms such as fever, headache, and seizures.
subclass of: Viral infections
subclass of: Mosquito-borne infections

Is arrhythmias
type: Class
comment: Is arrhythmias is a subcategory of Cardiovascular diseases. Disorders that affect the heart and blood vessels, including conditions like heart disease and stroke.
subclass of: Arrhythmias

Dermatosis linearis
type: Class
comment: A rare skin disorder characterized by linear lesions on the skin.
subclass of: Dermatosis

Neurosyphilis
type: Class
comment: An infection of the central nervous system caused by the bacterium Treponema pallidum, which is associated with syphilis.
subclass of: Sexually transmitted infections
subclass of: Bacterial infections
subclass of: Central nervous system infections

Rare gynecologic cancers
type: Class
comment: Rare gynecologic cancers include uncommon types of cancers that affect the female reproductive system, such as vaginal cancer, vulvar cancer, and gestational trophoblastic disease.
subclass of: Uncommon cancers

Schistosomiasis
type: Class
comment: A parasitic infection caused by blood flukes of the Schistosoma genus, acquired through contact with contaminated freshwater, resulting in damage to various organs.
subclass of: Vector-borne infections
subclass of: Helminthic infections

X-linked dominant disorders
type: Class
comment: 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.
subclass of: Monogenic disorders
subclass of: X-linked dominant rare diseases

Cerebral toxoplasmosis
type: Class
comment: 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.
subclass of: Protozoal infections
subclass of: Central nervous system infections
subclass of: Parasitic infectious diseases

Bacterial skin infections
type: Class
comment: These are infections caused by bacteria that invade the skin, leading to various skin conditions such as cellulitis, impetigo, and folliculitis.
subclass of: Skin and soft tissue infections

Parasitic skin infections
type: Class
comment: These infections are caused by parasites that infest the skin, resulting in conditions like scabies, lice infestation, and cutaneous larva migrans.
subclass of: Infectious dermatosis
subclass of: Parasitic infections

Mitochondrial deafness
type: Class
comment: Hearing loss caused by mitochondrial dysfunction, which can affect the structures and function of the inner ear.
subclass of: Mitochondrial genetic diseases
subclass of: Inherited mitochondrial diseases

Retinal detachment
type: Class
comment: Retinal detachment occurs when the retina separates from the underlying tissue, leading to sudden vision loss and the need for immediate medical attention.
subclass of: Eye diseases

Hemolytic anemia
type: Class
comment: A condition where red blood cells are destroyed prematurely, leading to a shortage of healthy red blood cells.
subclass of: Anemia

Metabolic syndrome
type: Class
comment: 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.
subclass of: Metabolic disorders

Dermatosis neglecta
type: Class
comment: A condition where accumulation of dirt, sebum, and sweat on the skin leads to the formation of thick, adherent scales.
subclass of: Dermatosis

Neuroendocrine tumors
type: Class
comment: Rare cancers that develop in the neuroendocrine cells, which are found throughout the body and produce hormones.
subclass of: Endocrine disorders
subclass of: Uncommon cancers

Cryptococcal meningitis
type: Class
comment: A fungal infection caused by Cryptococcus neoformans, primarily affecting the membranes surrounding the brain and spinal cord.
subclass of: Fungal opportunistic infections

Type 2 diabetes
type: Class
comment: 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.
subclass of: Diabetes

Conductive hearing loss
type: Class
comment: Hearing loss caused by problems in the outer or middle ear that prevent sound from reaching the inner ear.
subclass of: Hearing loss

Mitochondrial myopathy with exercise intolerance
type: Class
comment: This mitochondrial disease is characterized by muscle weakness and an inability to tolerate physical exercise.
subclass of: Secondary mitochondrial diseases
subclass of: Mitochondrial myopathy

Merrf (myoclonic epilepsy with ragged red fibers)
type: Class
comment: 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.
subclass of: Mitochondrial encephalomyopathy
subclass of: Mitochondrial epilepsy
subclass of: Syndromic inherited rare diseases

Duplication syndrome
type: Class
comment: 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.
subclass of: Chromosomal genetic diseases
subclass of: Syndromic inherited rare diseases

Polycystic ovarian syndrome
type: Class
comment: 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.
subclass of: Polycystic ovary syndrome (pcos)
subclass of: Metabolic disorders
subclass of: Chronic diseases

Pemphigoid diseases
type: Class
comment: A group of rare autoimmune disorders that cause blistering of the skin and mucous membranes.
subclass of: Autoimmune skin diseases
subclass of: Organ-specific autoimmune rare diseases
subclass of: Inflammatory dermatosis

Adrenal adenoma
type: Class
comment: A non-cancerous tumor that develops in the adrenal gland.
subclass of: Adrenal tumors

Rare lung cancers
type: Class
comment: 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.
subclass of: Uncommon cancers

Cutaneous lupus erythematosus
type: Class
comment: A chronic autoimmune disorder that primarily affects the skin, causing a variety of skin lesions.
subclass of: Organ-specific autoimmune rare diseases
subclass of: Inflammatory dermatosis
subclass of: Autoimmune skin diseases
subclass of: Autoimmune diseases

Binge eating disorder
type: Class
comment: 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.
subclass of: Eating disorders

Pemphigoid
type: Class
comment: A group of autoimmune blistering disorders characterized by the formation of large, tense blisters on the skin and mucous membranes.
subclass of: Vesiculobullous dermatosis
subclass of: Autoimmune skin diseases

Alcoholism
type: Class
comment: 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.
subclass of: Chronic diseases
subclass of: Add alcohol use disorder

Neuroendocrine bladder cancer
type: Class
comment: Rare cancers that develop in the neuroendocrine cells, which are found throughout the body and produce hormones.
subclass of: Bladder cancer

All eczematous dermatosis
type: Class
comment: Refers to a group of skin disorders characterized by inflammation, redness, itching, and the formation of blisters or scales.
subclass of: Allergic skin diseases
subclass of: Dermatitis
subclass of: Inflammatory dermatosis

Renal insufficiency
type: Class
comment: 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.
subclass of: Renal failure
subclass of: Kidney disease

Rare cancer awareness and education initiatives
type: Class
comment: 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.
subclass of: Rare cancers

Generalized anxiety disorder
type: Class
comment: 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.
subclass of: Anxiety disorders

Hormone receptor-positive breast cancer
type: Class
comment: Breast cancer that has receptors for estrogen and/or progesterone, allowing hormones to promote the growth of cancer cells.
subclass of: Breast cancer

Drug-induced allergic skin reactions
type: Class
comment: Adverse reactions to medications that involve an immune response, causing skin symptoms such as rashes, hives, or swelling.
subclass of: Allergic skin diseases

Down syndrome
type: Class
comment: 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.
subclass of: Trisomy

Adrenal crisis
type: Class
comment: A life-threatening condition characterized by a sudden and severe deficiency of adrenal hormones.
subclass of: Adrenal disorders

Candidiasis
type: Class
comment: A fungal infection caused by the Candida species, often affecting the mouth, throat, and genital areas.
subclass of: Fungal opportunistic infections

All atopic dermatitis
type: Class
comment: All atopic dermatitis is a subcategory of Dermatitis. Inflammation of the skin that can result in redness, itching, and sometimes blistering or oozing.
subclass of: Atopic dermatitis

Rare neuroinflammatory disorders
type: Class
comment: Disorders characterized by inflammation in the nervous system, resulting in various neurological symptoms and impairments.
subclass of: Neurological rare diseases

Epilepsy
type: Class
comment: A neurological disorder characterized by recurrent seizures due to abnormal brain activity.
subclass of: Neurological diseases

Testicular disorders
type: Class
comment: Genetic conditions that affect the structure or function of the testes, which can impact fertility and hormone production.
subclass of: Endocrine disorders
subclass of: Reproductive organ genetic disorders

Opportunistic infections
type: Class
comment: Infections that occur in individuals with weakened immune systems, such as those with HIV/AIDS or undergoing immunosuppressive therapy.
subclass of: Acquired immunodeficiency syndrome (aids)

Sleep disorders
type: Class
comment: Conditions that affect the quality, timing, and duration of sleep, such as insomnia, sleep apnea, and narcolepsy.
subclass of: Diseases

Chromosomal genetic diseases
type: Class
comment: Genetic diseases that are caused by abnormalities in the structure or number of chromosomes.
subclass of: Chromosomal disorders
subclass of: Rare genetic disorders

Respiratory infections
type: Class
comment: Infections that affect the respiratory system, including the lungs and airways, causing conditions like pneumonia, bronchitis, or influenza.
subclass of: Infectious diseases
subclass of: Respiratory diseases

Infectious dermatosis
type: Class
comment: Encompasses skin infections caused by various microorganisms, such as bacteria, viruses, fungi, or parasites.
subclass of: Dermatosis
subclass of: Infectious skin diseases

Genitourinary rare cancers
type: Class
comment: Rare cancers that affect the reproductive and urinary systems, including the kidneys, bladder, prostate, testicles, and ovaries.
subclass of: Uncommon cancers

Combined immunodeficiency diseases
type: Class
comment: Immunodeficiencies that involve defects in multiple components of the immune system, such as both B and T cells.
subclass of: Congenital immunodeficiency disorders
subclass of: Combined immunodeficiency disorders

Genetic skin diseases
type: Class
comment: Skin disorders that are inherited and caused by genetic mutations, leading to conditions like ichthyosis or epidermolysis bullosa.
subclass of: Skin diseases
subclass of: Inherited rare diseases

Gastrointestinal polyposis syndromes
type: Class
comment: A group of genetic disorders characterized by the development of multiple polyps in the gastrointestinal tract.
subclass of: Gastrointestinal genetic diseases

Primary immunodeficiency disorders
type: Class
comment: These are inherited disorders that affect the immune system's ability to function properly, resulting in an increased susceptibility to infections.
subclass of: Immunodeficiency disorders
subclass of: Inherited rare diseases

Infectious skin diseases
type: Class
comment: Infections that affect the skin, causing symptoms such as redness, swelling, and pain.
subclass of: Infectious diseases
subclass of: Skin diseases

Acquired hearing loss
type: Class
comment: Hearing loss that occurs after birth, often due to factors such as infections, medications, or exposure to loud noise.
subclass of: Hearing loss

Mitochondrial neurological genetic diseases
type: Class
comment: 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.
subclass of: Neurological genetic diseases
subclass of: Neurological rare diseases
subclass of: Mitochondrial rare diseases

Polycystic ovaries
type: Class
comment: 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.
subclass of: Gonadal disorders

Add alcohol use disorder
type: Class
comment: 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.
subclass of: Alcohol use disorder

Late-onset dementia
type: Class
comment: 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.
subclass of: Dementia

Skin cancer
type: Class
comment: Cancer that starts in the cells of the skin, often caused by exposure to ultraviolet (UV) radiation from the sun or tanning beds.
subclass of: Cancer
subclass of: Neoplastic skin diseases

Pituitary dysfunction
type: Class
comment: General term for any abnormality or impairment in the functioning of the pituitary gland.
subclass of: Pituitary gland disorders

Mitochondrial leukoencephalopathy
type: Class
comment: Mitochondrial leukoencephalopathy refers to a group of mitochondrial diseases that primarily affect the white matter of the brain, leading to neurological symptoms.
subclass of: Primary mitochondrial diseases
subclass of: Neurological genetic diseases
subclass of: Genetic disorders affecting the nervous system
subclass of: Metabolic neurological rare diseases

Dermatitis
type: Class
comment: Inflammation of the skin that can result in redness, itching, and sometimes blistering or oozing.
subclass of: Inflammatory skin diseases

Localized
type: Class
comment: Describes prostate cancer that is confined to the prostate gland and has not spread to other parts of the body.
subclass of: Prostate cancer

Osteochondrodysplasias
type: Class
comment: A group of genetic disorders that affect the development and growth of bones and cartilage, resulting in various skeletal abnormalities.
subclass of: Bone dysplasias
subclass of: Skeletal genetic rare diseases

Monogenic endocrine genetic diseases
type: Class
comment: These are genetic disorders caused by mutations in a single gene, leading to abnormalities in the endocrine system.
subclass of: Non-syndromic endocrine genetic diseases
subclass of: Monogenic disorders

Sphingolipid metabolism disorders
type: Class
comment: Disorders that disrupt the metabolism of sphingolipids, a type of lipid involved in cell signaling and structure.
subclass of: Lipid metabolism disorders
subclass of: Inborn errors of metabolism
subclass of: Organ-specific metabolic genetic diseases
subclass of: Organ-specific metabolic rare diseases

Mendelian disorders
type: Class
comment: Disorders caused by mutations in a single gene that follows Mendelian inheritance patterns.
subclass of: Single gene disorders

Nutritional disorders
type: Class
comment: Conditions caused by deficiencies or imbalances in nutrients, such as malnutrition or eating disorders.
subclass of: Diseases

B cell deficiency disorders
type: Class
comment: Immunodeficiencies that specifically affect B cells, a type of white blood cell responsible for producing antibodies.
subclass of: B cell deficiencies
subclass of: Combined immunodeficiency disorders
subclass of: Antibody deficiencies
subclass of: B-cell immunodeficiencies

Reproductive genetic diseases
type: Class
comment: These are genetic disorders that affect the reproductive system, including conditions that can impact fertility, pregnancy, and the development of the reproductive organs.
subclass of: Genetic diseases
subclass of: Reproductive system disorders

Primary brain tumors
type: Class
comment: Tumors that originate in the brain itself, rather than spreading from other parts of the body.
subclass of: Brain cancer
subclass of: Neurological diseases

Bladder cancer
type: Class
comment: Cancer that forms in the tissues of the bladder, the organ that stores urine.
subclass of: Cancer

Multifactorial genetic diseases
type: Class
comment: 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.
subclass of: Genetic diseases

Respiratory fungal infections
type: Class
comment: Fungal infections that primarily affect the respiratory system, such as the lungs, sinuses, or throat, leading to symptoms like coughing, wheezing, and difficulty breathing.
subclass of: Fungal infections
subclass of: Respiratory infections

Genetic neurological rare diseases
type: Class
comment: Rare diseases caused by abnormalities or mutations in genes, often inherited from parents.
subclass of: Genetic disorders affecting the nervous system
subclass of: Genetic rare diseases
subclass of: Neurogenetic syndromes

Frontotemporal dementia
type: Class
comment: 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.
subclass of: Early-onset dementia
subclass of: Degenerative neurological rare diseases

Parathyroid disorders
type: Class
comment: Conditions that affect the parathyroid glands, which regulate calcium and phosphorus levels in the body.
subclass of: Endocrine disorders

Mitochondrial encephalomyopathy
type: Class
comment: A term used to describe mitochondrial diseases that primarily affect the brain and nervous system, leading to neurological symptoms.
subclass of: Primary mitochondrial diseases
subclass of: Mitochondrial neurological genetic diseases
subclass of: Neurogenetic syndromes
subclass of: Neuromuscular rare diseases

Fertility disorders
type: Class
comment: 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.
subclass of: Endocrine disorders
subclass of: Genetic disorders affecting fertility

Antibody deficiencies
type: Class
comment: These are immunodeficiency disorders characterized by a lack or dysfunction of antibodies, which are crucial for fighting off infections.
subclass of: Secondary immunodeficiency disorders
subclass of: Rare diseases
subclass of: Seprimary immunodeficiency disorders

Anxiety disorders
type: Class
comment: Conditions characterized by excessive and persistent feelings of fear, worry, and unease.
subclass of: Mental health disorders

Gastrointestinal genetic diseases
type: Class
comment: Genetic disorders that affect the gastrointestinal tract, including the stomach, intestines, and other digestive organs.
subclass of: Gastrointestinal diseases
subclass of: Rare genetic disorders

Oxidative phosphorylation disorders
type: Class
comment: 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.
subclass of: Inherited mitochondrial diseases
subclass of: Disorders of mitochondrial metabolism
subclass of: Mitochondrial rare diseases

Melas (mitochondrial encephalomyopathy
type: Class
comment: 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.
subclass of: Primary mitochondrial diseases

Hematologic malignancies
type: Class
comment: Hematologic malignancies are rare cancers that affect the blood, bone marrow, and lymphatic system, including conditions like lymphoma, leukemia, and multiple myeloma.
subclass of: Blood disorders
subclass of: Uncommon cancers

Ovarian cancer
type: Class
comment: Cancer that forms in the ovaries, the female reproductive organs that produce eggs.
subclass of: Cancer
subclass of: Reproductive system disorders

Hypertension
type: Class
comment: High blood pressure.
subclass of: Cardiovascular diseases

Allergic skin diseases
type: Class
comment: Skin conditions that occur as a result of an allergic reaction, such as contact dermatitis or atopic dermatitis.
subclass of: Inflammatory skin diseases

Reproductive organ genetic disorders
type: Class
comment: This category includes genetic disorders that affect the development or functioning of the reproductive organs, such as the ovaries, testes, uterus, or fallopian tubes.
subclass of: Genetic disorders affecting reproductive organs

Muscular genetic diseases
type: Class
comment: Genetic disorders that primarily affect the muscles, leading to muscle weakness, wasting, or other muscular abnormalities.
subclass of: Genetic rare diseases
subclass of: Rare genetic disorders

Superficial fungal infections
type: Class
comment: Fungal infections that are limited to the outer layers of the skin, hair, or nails, causing mild symptoms and typically easy to treat.
subclass of: Cutaneous fungal infections

Tubular diseases
type: Class
comment: 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.
subclass of: Kidney disease

Adrenal hyperplasia
type: Class
comment: A group of genetic disorders that cause the adrenal glands to produce excessive amounts of certain hormones.
subclass of: Autosomal recessive diseases
subclass of: Hormone overproduction
subclass of: Hormone deficiencies
subclass of: Monogenic endocrine genetic diseases
subclass of: Adrenal genetic disorders

Neurological viral infections
type: Class
comment: Infections that affect the brain and spinal cord, causing conditions such as meningitis or encephalitis.
subclass of: Viral infections
subclass of: Central nervous system infections

Autosomal dominant diseases
type: Class
comment: 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.
subclass of: Mendelian disorders

Mitochondrial epilepsy
type: Class
comment: A type of epilepsy that is associated with mitochondrial dysfunction, resulting in recurrent seizures.
subclass of: Neurological genetic diseases
subclass of: Mitochondrial diseases
subclass of: Epilepsy
subclass of: Genetic disorders affecting the nervous system

Mitochondrial neuropathy
type: Class
comment: Mitochondrial neuropathy refers to a group of mitochondrial diseases that primarily affect the peripheral nerves, leading to neuropathy.
subclass of: Inherited mitochondrial diseases
subclass of: Neuropathy
subclass of: Mitochondrial rare diseases
subclass of: Genetic disorders affecting the nervous system

Respiratory autosomal recessive diseases
type: Class
comment: Genetic diseases that primarily affect the respiratory system, leading to breathing difficulties or lung-related problems.
subclass of: Autosomal recessive disorders
subclass of: Respiratory genetic rare diseases

Mitochondrial neurogastrointestinal encephalopathy (mngie)
type: Class
comment: A rare genetic disorder that affects multiple systems in the body, causing gastrointestinal problems, neurological symptoms, and muscle weakness.
subclass of: Inherited mitochondrial diseases
subclass of: Mitochondrial encephalopathy
subclass of: Disorders of mitochondrial metabolism
subclass of: Inborn errors of metabolism
subclass of: Mitochondrial neurological genetic diseases
subclass of: Neurogenetic syndromes

Intestinal parasites
type: Class
comment: Parasitic infections that primarily affect the gastrointestinal tract, including various types of worms and protozoa.
subclass of: Gastrointestinal infections
subclass of: Parasitic infections

Secondary immunodeficiency disorders
type: Class
comment: 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.
subclass of: Immunodeficiency disorders

Chronic respiratory diseases
type: Class
comment: Long-term conditions that affect the lungs and airways, such as chronic obstructive pulmonary disease (COPD) and asthma.
subclass of: Chronic diseases
subclass of: Respiratory diseases

Central nervous system infections
type: Class
comment: Infections that affect the brain and spinal cord, causing conditions such as meningitis or encephalitis.
subclass of: Infectious diseases
subclass of: Neurological diseases

Is heart failure
type: Class
comment: Is heart failure is a subcategory of Cardiovascular diseases. Disorders that affect the heart and blood vessels, including conditions like heart disease and stroke.
subclass of: Heart disease

Single gene disorders
type: Class
comment: 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.
subclass of: Genetic diseases

Vascular dermatosis
type: Class
comment: 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.
subclass of: Dermatosis

Allergic dermatosis
type: Class
comment: 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.
subclass of: Allergic skin diseases
subclass of: Dermatitis

Bacterial meningitis
type: Class
comment: Bacterial meningitis is an infection that causes inflammation of the protective membranes covering the brain and spinal cord.
subclass of: Meningitis
subclass of: Central nervous system infections

Substance use disorders
type: Class
comment: Conditions involving the misuse or dependence on substances such as drugs or alcohol, leading to negative consequences on physical and mental health.
subclass of: Mental health disorders

Hypolipidemias
type: Class
comment: 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.
subclass of: Lipoprotein metabolism disorders

Ophthalmological genetic diseases
type: Class
comment: 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.
subclass of: Eye diseases
subclass of: Rare genetic disorders

Hormonal imbalance
type: Class
comment: Hormonal imbalance refers to a disruption in the normal levels of hormones in the body, which can lead to various health problems.
subclass of: Endocrine disorders

Lymphoma
type: Class
comment: Cancer that affects the lymphatic system, which is part of the body's immune system.
subclass of: Cancer

Non-syndromic endocrine genetic diseases
type: Class
comment: This subcategory refers to genetic disorders that primarily affect the endocrine system without causing additional physical or developmental abnormalities.
subclass of: Endocrine genetic diseases
subclass of: Genetic rare diseases

Renal cystic diseases
type: Class
comment: A group of genetic disorders characterized by the presence of cysts in the kidneys, which can lead to kidney enlargement and impaired kidney function.
subclass of: Renal genetic diseases
subclass of: Kidney disease

Protozoal infections
type: Class
comment: Parasitic infections caused by single-celled organisms called protozoa, which can affect various organs and systems in the body.
subclass of: Parasitic infections

Blood disorders
type: Class
comment: Abnormalities in the components of blood, such as red blood cells, white blood cells, or platelets.
subclass of: Diseases

Alcohol use disorder
type: Class
comment: A condition characterized by the excessive and problematic consumption of alcohol, leading to negative consequences on physical and mental health.
subclass of: Substance use disorders

Skin diseases
type: Class
comment: Disorders that affect the skin, including conditions like eczema, psoriasis, and acne.
subclass of: Diseases

Cardiovascular genetic diseases
type: Class
comment: Genetic conditions that affect the heart and blood vessels.
subclass of: Genetic diseases
subclass of: Heart disease

Invasive ductal carcinoma
type: Class
comment: The most common type of breast cancer, where cancer cells invade the surrounding breast tissue from the milk ducts.
subclass of: Invasive breast cancer

Mitochondrial disorders
type: Class
comment: 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.
subclass of: Metabolic rare diseases
subclass of: Rare genetic disorders

X-linked recessive diseases
type: Class
comment: 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.
subclass of: Monogenic disorders

Pituitary gland disorders
type: Class
comment: Disorders that disrupt the normal functioning of the pituitary gland, resulting in hormonal abnormalities.
subclass of: Pituitary disorders
subclass of: Growth disorders

Inflammatory skin diseases
type: Class
comment: Skin disorders characterized by inflammation, such as eczema, psoriasis, or rosacea.
subclass of: Dermatosis

Organ-specific metabolic rare diseases
type: Class
comment: 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.
subclass of: Metabolic rare diseases

Monogenic dermatologic disorders
type: Class
comment: This subcategory includes genetic diseases that primarily affect the skin, leading to various skin abnormalities or conditions.
subclass of: Monogenic disorders
subclass of: Dermatological genetic rare diseases
subclass of: Genetic dermatosis

Hypopituitarism
type: Class
comment: A disorder where the pituitary gland does not produce enough hormones, resulting in various hormonal deficiencies.
subclass of: Growth hormone disorders
subclass of: Pituitary insufficiency disorders

Otologic disorders
type: Class
comment: Disorders that affect the ear, including hearing loss, ear infections, and balance disorders.
subclass of: Diseases

Autoimmune rare diseases
type: Class
comment: Rare diseases that occur when the immune system mistakenly attacks healthy cells and tissues in the body.
subclass of: Rare diseases

Dermatological genetic disorders
type: Class
comment: Disorders that affect the skin, such as eczema, psoriasis, or acne.
subclass of: Rare genetic disorders
subclass of: Genetic skin diseases

Adrenal genetic diseases
type: Class
comment: Conditions that affect the adrenal glands, which produce hormones such as cortisol and adrenaline.
subclass of: Single gene disorders
subclass of: Adrenal disorders
subclass of: Endocrine genetic diseases

Organic acidemias
type: Class
comment: 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.
subclass of: Single gene genetic diseases
subclass of: Organic acid metabolism disorders
subclass of: Organ-specific metabolic genetic diseases
subclass of: Mendelian disorders
subclass of: Organ-specific metabolic rare diseases

Mitochondrial optic neuropathies
type: Class
comment: Disorders that affect the optic nerve due to mitochondrial dysfunction, leading to vision loss and other visual impairments.
subclass of: Eye diseases
subclass of: Mitochondrial diseases
subclass of: Neuropathy
subclass of: Mitochondrial rare diseases
subclass of: Genetic disorders affecting the nervous system

Arrhythmogenic cardiomyopathy
type: Class
comment: A disorder that affects the heart's electrical system, causing abnormal heart rhythms and an increased risk of fainting or sudden cardiac arrest.
subclass of: Cardiovascular genetic diseases
subclass of: Cardiomyopathy

Epithelial ovarian cancer
type: Class
comment: This is the most common type of ovarian cancer and it starts in the cells on the surface of the ovary.
subclass of: Ovarian cancer

Immunodeficiency genetic diseases
type: Class
comment: These are genetic disorders that affect the immune system, leading to a weakened or impaired ability to fight off infections and diseases.
subclass of: Immunodeficiency disorders
subclass of: Genetic rare diseases
subclass of: Rare genetic disorders

Endocrine genetic diseases
type: Class
comment: Genetic disorders that impact the endocrine system, which is responsible for regulating hormones and metabolism.
subclass of: Endocrine disorders
subclass of: Rare genetic disorders

Reproductive endocrine disorders
type: Class
comment: Conditions affecting the reproductive system, including hormonal imbalances and fertility issues.
subclass of: Hormonal imbalance
subclass of: Reproductive system disorders

Congenital reproductive genetic diseases
type: Class
comment: Congenital disorders are genetic disorders that are present at birth and are often caused by abnormalities in genes or chromosomes.
subclass of: Reproductive organ genetic disorders

Primary antibody deficiencies
type: Class
comment: Immunodeficiencies that primarily affect the production or function of antibodies, leading to increased susceptibility to infections.
subclass of: Congenital immunodeficiency disorders
subclass of: Primary immunodeficiency disorders
subclass of: Seprimary immunodeficiency disorders

Sickle cell anemia
type: Class
comment: 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.
subclass of: Hematological genetic diseases
subclass of: Autosomal recessive diseases

Meningitis
type: Class
comment: Inflammation of the membranes surrounding the brain and spinal cord, often caused by a bacterial or viral infection.
subclass of: Bacterial infections

T cell deficiencies
type: Class
comment: 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.
subclass of: Secondary immunodeficiency disorders

Diseases
type: Class
comment: Diseases refer to abnormal conditions or disorders that affect the normal functioning of the body, often causing physical or mental harm.

Mitochondrial myopathy
type: Class
comment: 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.
subclass of: Primary mitochondrial diseases
subclass of: Organ-specific metabolic rare diseases

Ichthyosis
type: Class
comment: A group of genetic disorders characterized by dry, scaly skin due to a defect in the skin's ability to shed dead cells properly.
subclass of: Mendelian disorders
subclass of: Dermatological genetic rare diseases
subclass of: Genetic dermatosis

Cardiovascular genetic rare diseases
type: Class
comment: Genetic rare diseases that affect the heart and blood vessels, leading to abnormalities in the structure or function of the cardiovascular system.
subclass of: Rare genetic disorders
subclass of: Genetic rare diseases

Copd
type: Class
comment: Chronic obstructive pulmonary disease is a progressive lung disease characterized by airflow limitation and difficulty breathing.
subclass of: Chronic respiratory diseases

Pituitary hormone excess disorders
type: Class
comment: Conditions characterized by excessive production or release of certain hormones by the pituitary gland.
subclass of: Pituitary gland disorders
subclass of: Pituitary hypersecretion disorders

Cardiomyopathy
type: Class
comment: A disease that weakens and enlarges the heart muscle, making it harder for the heart to pump blood.
subclass of: Heart disease

Dermatological genetic diseases
type: Class
comment: Genetic disorders that primarily affect the skin, causing various skin abnormalities and conditions.
subclass of: Rare genetic disorders
subclass of: Dermatosis
subclass of: Genetic skin diseases

Combined immunodeficiencies
type: Class
comment: Immunodeficiencies that affect both B and T cells, resulting in compromised immune responses against infections.
subclass of: Combined immunodeficiency diseases
subclass of: Seprimary immunodeficiency disorders

Prostate cancer
type: Class
comment: Cancer that occurs in the prostate gland, a small walnut-shaped gland in males that produces seminal fluid.
subclass of: Cancer

Primary mitochondrial diseases
type: Class
comment: Primary mitochondrial diseases are those that are caused by mutations in mitochondrial DNA or nuclear DNA that directly affect mitochondrial function.
subclass of: Inherited mitochondrial diseases
subclass of: Mitochondrial rare diseases

Trisomy disorders
type: Class
comment: 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).
subclass of: Trisomy
subclass of: Chromosomal genetic diseases

Single gene genetic diseases
type: Class
comment: 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.
subclass of: Genetic rare diseases

Ulcers
type: Class
comment: Open sores that can develop in various parts of the digestive tract.
subclass of: Gastrointestinal diseases

Inflammatory dermatosis
type: Class
comment: Encompasses skin disorders characterized by inflammation of the skin, often resulting in redness, swelling, itching, and the formation of various skin lesions.
subclass of: Inflammatory skin diseases

Neuropathy
type: Class
comment: A condition that affects the peripheral nerves, causing numbness, tingling, and pain in the affected areas.
subclass of: Neurological diseases

Mitochondrial depletion syndromes
type: Class
comment: A group of disorders characterized by a significant reduction in the number of mitochondria in cells, resulting in impaired energy production.
subclass of: Inherited mitochondrial diseases
subclass of: Mitochondrial rare diseases

X-linked disorders
type: Class
comment: 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.
subclass of: Mendelian disorders
subclass of: Sex chromosome disorders

Progressive supranuclear palsy
type: Class
comment: 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.
subclass of: Neurodegenerative diseases
subclass of: Rare diseases

Neoplastic skin diseases
type: Class
comment: This subcategory includes skin conditions that involve the growth of abnormal cells, such as skin cancer, melanoma, and basal cell carcinoma.
subclass of: Skin diseases

Respiratory opportunistic infections
type: Class
comment: Infections that affect the respiratory system, including the lungs and airways, causing conditions like pneumonia, bronchitis, or influenza.
subclass of: Opportunistic infections
subclass of: Respiratory infections

Malignant brain tumors
type: Class
comment: High-grade brain tumors that grow rapidly and have a worse prognosis compared to lower-grade tumors.
subclass of: Brain cancer

Cutaneous fungal infections
type: Class
comment: Fungal infections that affect the skin, including conditions like tinea versicolor or jock itch.
subclass of: Fungal infections
subclass of: Infectious dermatosis

Congenital gastrointestinal genetic disorders
type: Class
comment: Genetic disorders that affect the development and function of the gastrointestinal tract from birth.
subclass of: Gastrointestinal genetic diseases
subclass of: Gastrointestinal inherited rare diseases

Monogenic immunologic disorders
type: Class
comment: This subcategory includes genetic diseases that primarily affect the immune system, leading to impaired immune responses or increased susceptibility to infections.
subclass of: Monogenic disorders

Sex chromosome disorders
type: Class
comment: 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).
subclass of: Chromosomal disorders

Bloodborne infections
type: Class
comment: Infections that are transmitted through contact with infected blood or blood products.
subclass of: Infectious diseases

Monogenic skeletal disorders
type: Class
comment: This subcategory includes genetic diseases that primarily affect the skeletal system, leading to abnormalities in bone development, structure, or function.
subclass of: Monogenic disorders
subclass of: Skeletal genetic rare diseases

Arboviral infections
type: Class
comment: These are infections caused by arthropod-borne viruses, which are transmitted to humans through the bites of infected mosquitoes, ticks, or other arthropods.
subclass of: Viral infections
subclass of: Mosquito-borne infections
subclass of: Zoonotic vector-borne infections

Neurological diseases
type: Class
comment: Disorders that affect the nervous system, including conditions like Alzheimer's disease, Parkinson's disease, and multiple sclerosis.
subclass of: Diseases

Genetic disorders affecting pregnancy
type: Class
comment: Genetic conditions that can lead to complications during pregnancy, such as miscarriages, stillbirths, or preterm labor.
subclass of: Reproductive genetic diseases

Gastroenteritis
type: Class
comment: Inflammation of the stomach and intestines, often caused by viral or bacterial infections.
subclass of: Gastrointestinal infections

Mucopolysaccharidoses
type: Class
comment: 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.
subclass of: Inborn errors of metabolism
subclass of: Lysosomal storage diseases
subclass of: Syndromic inherited rare diseases
subclass of: Organ-specific metabolic rare diseases

Monogenic cardiovascular disorders
type: Class
comment: This subcategory includes genetic diseases that primarily affect the cardiovascular system, such as conditions related to the heart, blood vessels, or blood flow.
subclass of: Cardiovascular diseases
subclass of: Monogenic disorders
subclass of: Cardiovascular genetic rare diseases

Congenital immunodeficiency disorders
type: Class
comment: Immunodeficiency disorders that are present from birth, often due to genetic mutations affecting the immune system.
subclass of: Immunodeficiency genetic diseases

Viral opportunistic infections
type: Class
comment: Infections caused by viruses, which can affect various organs and systems in the body and cause a wide range of symptoms.
subclass of: Opportunistic infections
subclass of: Viral infections

Bacterial infections
type: Class
comment: Infections caused by bacteria, which can affect various parts of the body and cause a wide range of symptoms.
subclass of: Infectious diseases

Acquired immunodeficiency syndrome (aids)
type: Class
comment: 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.
subclass of: Infectious diseases
subclass of: Immunodeficiency disorders

Ductal carcinoma in situ
type: Class
comment: Non-invasive breast cancer where abnormal cells are found in the lining of the breast ducts.
subclass of: Localized breast cancer

Eczema
type: Class
comment: A chronic condition that causes the skin to become dry, itchy, and inflamed, often resulting in patches of red, scaly skin.
subclass of: Inflammatory dermatosis

Dermatosis
type: Class
comment: A general term used to describe any skin disorder or disease.
subclass of: Skin diseases

Parasitic zoonotic infections
type: Class
comment: Infections caused by parasites that can be transmitted between animals and humans.
subclass of: Parasitic infections
subclass of: Zoonotic infections

Mitochondrial diseases
type: Class
comment: 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.
subclass of: Chronic diseases
subclass of: Mitochondrial disorders

Ectodermal dysplasias
type: Class
comment: A group of genetic disorders that affect the development of ectodermal structures, including the skin, hair, nails, teeth, and sweat glands.
subclass of: Genetic rare diseases
subclass of: Dermatological genetic diseases
subclass of: Mendelian disorders
subclass of: Syndromic inherited rare diseases
subclass of: Dermatological genetic disorders

Transient hypogammaglobulinemia of infancy (thi)
type: Class
comment: 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.
subclass of: B cell deficiencies
subclass of: Antibody deficiencies

Nail
type: Class
comment: Fungal infections that specifically affect the nails, causing discoloration, thickening, and brittleness.
subclass of: Fungal infections

Chondrodysplasias
type: Class
comment: Conditions characterized by defects or damage to the cartilage and underlying bone, often resulting in pain, joint instability, and limited mobility.
subclass of: Osteochondrodysplasias

Renal inherited rare diseases
type: Class
comment: Conditions that affect the kidneys, impairing their ability to filter waste products from the blood.
subclass of: Renal genetic diseases

Lysosomal storage disorders
type: Class
comment: 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.
subclass of: Enzyme deficiencies
subclass of: Genetic rare diseases
subclass of: Lysosomal storage diseases
subclass of: Mendelian disorders
subclass of: Organ-specific metabolic rare diseases

Gonadal endocrine genetic diseases
type: Class
comment: Disorders that affect the gonads (testes in males and ovaries in females), leading to hormonal imbalances and reproductive issues.
subclass of: Gonadal genetic diseases

Metabolic rare diseases
type: Class
comment: Rare diseases that affect the body's metabolism, leading to problems with the breakdown or processing of substances such as proteins, carbohydrates, or fats.
subclass of: Metabolic disorders
subclass of: Rare diseases

Her2-positive
type: Class
comment: Breast cancer that tests positive for the HER2 protein, which promotes the growth of cancer cells.
subclass of: Invasive breast cancer

Overgrowth syndromes
type: Class
comment: 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.
subclass of: Genetic diseases
subclass of: Growth disorders
subclass of: Rare diseases

Anemia
type: Class
comment: A condition characterized by a decrease in the number of red blood cells or a decrease in the amount of hemoglobin in the blood.
subclass of: Blood disorders
subclass of: Nutritional disorders

Rare blood cancers
type: Class
comment: 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.
subclass of: Hematologic malignancies

Seprimary immunodeficiency disorders
type: Class
comment: Seprimary immunodeficiency disorders is a subcategory of Immunodeficiency disorders. Conditions where the immune system is weakened or impaired, making individuals more susceptible to infections.
subclass of: Immunodeficiency disorders

X hyper ige syndrome (hies)
type: Class
comment: A rare immune disorder characterized by recurrent infections, eczema, and high levels of immunoglobulin E (IgE).
subclass of: Congenital immunodeficiency disorders
subclass of: Primary immunodeficiency disorders
subclass of: Syndromic inherited rare diseases

Congenital neurological rare diseases
type: Class
comment: Rare diseases that are present at birth and result from genetic or developmental abnormalities affecting the nervous system.
subclass of: Rare genetic disorders
subclass of: Neurological rare diseases

Monogenic disorders
type: Class
comment: Disorders caused by mutations in a single gene.
subclass of: Mendelian disorders
subclass of: Single gene genetic diseases
subclass of: Rare genetic disorders

Invasive bladder cancer
type: Class
comment: 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.
subclass of: Bladder cancer

Autoimmune polyendocrine syndrome
type: Class
comment: A group of rare disorders that affect multiple endocrine glands, leading to hormonal imbalances and dysfunction.
subclass of: Endocrine autoimmune rare diseases

Non-small cell lung cancer
type: Class
comment: A group of lung cancers that includes adenocarcinoma, squamous cell carcinoma, and large cell carcinoma. It is the most common type of lung cancer.
subclass of: Lung cancer

Respiratory diseases
type: Class
comment: Disorders that affect the respiratory system, including conditions like asthma, chronic obstructive pulmonary disease (COPD), and pneumonia.
subclass of: Diseases

Renal genetic rare diseases
type: Class
comment: Conditions that affect the kidneys, impairing their ability to filter waste products from the blood.
subclass of: Genetic rare diseases
subclass of: Renal inherited rare diseases

Endometrioid carcinoma
type: Class
comment: A specific subtype of ovarian cancer that resembles the tissue lining the uterus.
subclass of: Ovarian cancer

Eczematous dermatosis
type: Class
comment: A group of inflammatory skin disorders characterized by red, itchy, and scaly patches on the skin.
subclass of: Eczema
subclass of: Dermatitis

Genetic disorders affecting fertility
type: Class
comment: Genetic conditions that can cause infertility or reduce the ability to conceive or carry a pregnancy to term.
subclass of: Infertility
subclass of: Genetic disorders affecting reproductive organs

Hypogonadism
type: Class
comment: A condition where the gonads (testes in males, ovaries in females) do not produce enough sex hormones.
subclass of: Gonadal disorders

Neurogenetic syndromes
type: Class
comment: These are a group of genetic disorders that primarily affect the nervous system and are characterized by a combination of neurological and other symptoms.
subclass of: Neurological genetic diseases

Respiratory genetic rare diseases
type: Class
comment: Genetic diseases that primarily affect the respiratory system, leading to breathing difficulties or lung-related problems.
subclass of: Genetic rare diseases
subclass of: Respiratory genetic disorders

Airborne zoonotic infections
type: Class
comment: Zoonotic infections that can be transmitted through the air, such as through respiratory droplets.
subclass of: Zoonotic infections

X-linked neurological genetic diseases
type: Class
comment: 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.
subclass of: Neurogenetic syndromes
subclass of: Monogenic disorders

Skeletal genetic diseases
type: Class
comment: 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.
subclass of: Genetic rare diseases
subclass of: Rare genetic disorders

Dental diseases
type: Class
comment: Conditions that affect the teeth, gums, and oral cavity, including cavities, gum disease, and oral infections.
subclass of: Diseases

Degenerative neurological rare diseases
type: Class
comment: Rare diseases characterized by the progressive degeneration or deterioration of the nervous system over time.
subclass of: Neurodegenerative rare diseases

Hormone deficiencies
type: Class
comment: This subcategory includes genetic disorders that result in the inadequate production or functioning of specific hormones in the body.
subclass of: Hormonal imbalance
subclass of: Endocrine genetic diseases

Dermatological genetic rare diseases
type: Class
comment: Disorders that affect the skin, such as eczema, psoriasis, or acne.
subclass of: Genetic rare diseases
subclass of: Dermatological genetic disorders

Disorders of mitochondrial metabolism
type: Class
comment: 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.
subclass of: Metabolic genetic diseases
subclass of: Mitochondrial disorders
subclass of: Organ-specific metabolic rare diseases

Rare cancer research and clinical trials
type: Class
comment: 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.
subclass of: Uncommon cancers

Invasive lobular carcinoma
type: Class
comment: Breast cancer that starts in the milk-producing glands (lobules) and spreads to the surrounding breast tissue.
subclass of: Invasive breast cancer

Eye diseases
type: Class
comment: Disorders that affect the eyes, including conditions like cataracts, glaucoma, and macular degeneration.
subclass of: Diseases

Colon cancer
type: Class
comment: 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.
subclass of: Colorectal cancer

Musculoskeletal disorders
type: Class
comment: Conditions that affect the muscles, bones, joints, and connective tissues, including arthritis, osteoporosis, and back pain.
subclass of: Diseases

Serous ovarian cancer
type: Class
comment: The most common subtype of ovarian cancer, characterized by the presence of serous cells.
subclass of: Ovarian cancer

Inflammatory bowel disease
type: Class
comment: A group of chronic inflammatory conditions that affect the digestive tract, including Crohn's disease and ulcerative colitis.
subclass of: Autoimmune diseases
subclass of: Gastrointestinal diseases

T cell deficiency disorders
type: Class
comment: Immunodeficiencies that specifically affect T cells, a type of white blood cell that plays a key role in coordinating the immune response.
subclass of: Congenital immunodeficiency disorders
subclass of: Combined immunodeficiency disorders
subclass of: Seprimary immunodeficiency disorders

Hypercholesterolemia
type: Class
comment: A condition characterized by high levels of cholesterol in the blood, which can increase the risk of heart disease.
subclass of: Lipid metabolism disorders

Lysosomal storage diseases
type: Class
comment: 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.
subclass of: Metabolic genetic diseases
subclass of: Metabolic rare diseases
subclass of: Rare genetic disorders

Hyperprolactinemia
type: Class
comment: Excessive levels of the hormone prolactin, which can disrupt normal reproductive function.
subclass of: Hormonal imbalances
subclass of: Pituitary hypersecretion disorders

Cancer
type: Class
comment: A group of diseases characterized by the uncontrolled growth and spread of abnormal cells.
subclass of: Diseases

Gonadal disorders
type: Class
comment: Disorders that affect the gonads (testes in males and ovaries in females), leading to hormonal imbalances and reproductive issues.
subclass of: Hormonal imbalances

Heart failure
type: Class
comment: A condition where the heart is unable to pump enough blood to meet the body's needs.
subclass of: Heart disease

Vector-borne infections
type: Class
comment: Infections that are transmitted to humans through the bite of infected arthropods, such as mosquitoes, ticks, or fleas.
subclass of: Infectious diseases

Genetic dermatosis
type: Class
comment: Refers to skin conditions that are inherited or caused by genetic mutations, leading to abnormalities in the structure or function of the skin.
subclass of: Dermatological genetic disorders
subclass of: Dermatological genetic diseases

X-linked recessive disorders
type: Class
comment: Disorders caused by mutations in genes on the X chromosome, where males are more commonly affected due to having only one X chromosome.
subclass of: Chromosomal genetic diseases
subclass of: X-linked disorders
subclass of: X-linked recessive rare diseases

Drug addiction
type: Class
comment: A condition characterized by the compulsive use of drugs, despite negative consequences and the desire to quit.
subclass of: Substance use disorders

X-linked recessive rare diseases
type: Class
comment: 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.
subclass of: X-linked recessive diseases

Muscle invasive bladder cancer
type: Class
comment: 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.
subclass of: Invasive bladder cancer

Tuberculosis
type: Class
comment: A bacterial infection caused by Mycobacterium tuberculosis, primarily affecting the lungs but can also spread to other parts of the body.
subclass of: Bacterial infections

Glycolipid metabolism disorders
type: Class
comment: 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.
subclass of: Lipid metabolism disorders
subclass of: Rare genetic disorders
subclass of: Inborn errors of metabolism
subclass of: Organ-specific metabolic rare diseases

Nasal disorders
type: Class
comment: Disorders that affect the nose, including conditions like sinusitis, allergies, and nasal polyps.
subclass of: Respiratory diseases

Hyper ige syndrome (hies)
type: Class
comment: A rare primary immunodeficiency disorder characterized by recurrent infections, high levels of immunoglobulin E (IgE), and various other symptoms.
subclass of: Primary immunodeficiency disorders
subclass of: Immunodeficiency genetic diseases
subclass of: Syndromic inherited rare diseases

Neurological genetic diseases
type: Class
comment: Genetic conditions that primarily affect the nervous system, including the brain, spinal cord, and nerves.
subclass of: Neurological diseases
subclass of: Rare genetic disorders

Colorectal cancer
type: Class
comment: Cancer that starts in the colon or rectum, often beginning as a growth called a polyp.
subclass of: Cancer

Cardiovascular diseases
type: Class
comment: Disorders that affect the heart and blood vessels, including conditions like heart disease and stroke.
subclass of: Chronic diseases

Inherited genetic diseases
type: Class
comment: Diseases that are passed down from parents to their children through genes.
subclass of: Single gene disorders
subclass of: Inherited rare diseases

Congenital myopathies
type: Class
comment: 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.
subclass of: Muscular genetic diseases
subclass of: Musculoskeletal disorders

Genetic disorders affecting the nervous system
type: Class
comment: Disorders caused by abnormalities or mutations in genes that affect the development or functioning of the nervous system.
subclass of: Genetic diseases
subclass of: Neurological rare diseases

Hyperpituitarism
type: Class
comment: A condition characterized by excessive production of one or more pituitary hormones, leading to various health problems.
subclass of: Growth hormone disorders
subclass of: Pituitary hormone excess disorders

Metabolic disorders
type: Class
comment: Disorders that affect the body's metabolism, such as diabetes, obesity, and metabolic syndrome.
subclass of: Diseases

Monogenic hematologic disorders
type: Class
comment: This subcategory includes genetic diseases that primarily affect the blood and blood-forming tissues, leading to abnormalities in blood cell production or function.
subclass of: Hematological genetic diseases
subclass of: Monogenic disorders

Reproductive system disorders
type: Class
comment: Conditions that affect the reproductive organs, including infertility, menstrual disorders, and sexually transmitted infections.
subclass of: Diseases

Low-grade gliomas
type: Class
comment: Low-grade brain tumors that grow slowly and have a better prognosis compared to higher-grade tumors.
subclass of: Primary brain tumors

Gonadal genetic diseases
type: Class
comment: Genetic disorders that impact the gonads, which are the reproductive organs responsible for producing sex hormones and gametes.
subclass of: Endocrine genetic diseases
subclass of: Reproductive organ genetic disorders

Sesevere combined immunodeficiency (scid)
type: Class
comment: 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.
subclass of: T cell deficiency disorders
subclass of: Monogenic immunologic disorders
subclass of: Combined immunodeficiencies
subclass of: Autosomal recessive rare diseases

Opportunistic fungal infections
type: Class
comment: Fungal infections that typically occur in individuals with weakened immune systems, such as those with HIV/AIDS or undergoing chemotherapy.
subclass of: Fungal infections

Arthritis
type: Class
comment: Inflammation of one or more joints, causing pain, stiffness, and swelling.
subclass of: Musculoskeletal diseases

Genetic growth disorders
type: Class
comment: Conditions that result from abnormalities or mutations in genes, often leading to physical or developmental abnormalities.
subclass of: Growth disorders
subclass of: Rare genetic disorders

Autoimmune cytopenias
type: Class
comment: A group of disorders characterized by the immune system attacking and destroying blood cells, leading to low blood cell counts.
subclass of: Blood disorders
subclass of: Autoimmune rare diseases

Inborn errors of metabolism
type: Class
comment: 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.
subclass of: Metabolic genetic diseases
subclass of: Metabolic rare diseases

Neuromuscular rare diseases
type: Class
comment: Disorders that affect the muscles and/or the nerves that control them, often caused by genetic mutations.
subclass of: Rare genetic disorders
subclass of: Neurological rare diseases

Dermatophytosis
type: Class
comment: Refers to skin infections caused by dermatophytes, which are a group of fungi that can invade and grow on the skin, hair, or nails.
subclass of: Superficial fungal infections

Localized breast cancer
type: Class
comment: Breast cancer that is confined to the breast and has not spread to other parts of the body.
subclass of: Breast cancer

Lipid metabolism disorders
type: Class
comment: 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.
subclass of: Metabolic genetic diseases
subclass of: Metabolic rare diseases

Adrenal insufficiency
type: Class
comment: A condition where the adrenal glands do not produce enough hormones.
subclass of: Hormonal imbalance
subclass of: Adrenal disorders

Monosomy disorders
type: Class
comment: 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).
subclass of: Chromosomal genetic diseases

Pituitary disorders
type: Class
comment: Disorders that affect the pituitary gland, often leading to hormonal imbalances and various health problems.
subclass of: Hormonal imbalance

Autoimmune skin diseases
type: Class
comment: Skin disorders that arise from an overactive immune system attacking healthy skin cells, such as lupus or pemphigus.
subclass of: Inflammatory skin diseases

Diabetes
type: Class
comment: 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.
subclass of: Metabolic disorders
subclass of: Endocrine disorders
subclass of: Chronic diseases

Aortic genetic diseases
type: Class
comment: Rare conditions that affect the aorta, the main artery that carries blood from the heart to the rest of the body.
subclass of: Cardiovascular genetic diseases
subclass of: Rare genetic disorders

Hematological genetic rare diseases
type: Class
comment: Abnormalities in the blood, such as disorders of red blood cells, white blood cells, or platelets.
subclass of: Hematological genetic diseases
subclass of: Genetic rare diseases
subclass of: Rare genetic disorders

Bullous dermatosis
type: Class
comment: A group of skin disorders characterized by the formation of blisters or bullae on the skin.
subclass of: Inflammatory dermatosis

Autosomal recessive diseases
type: Class
comment: 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.
subclass of: Single gene genetic diseases
subclass of: Mendelian disorders

Autosomal recessive disorders
type: Class
comment: 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.
subclass of: Autosomal recessive diseases
subclass of: Monogenic disorders

Mitochondrial leukodystrophy
type: Class
comment: This is a rare genetic disorder that affects the white matter of the brain, leading to progressive neurological symptoms.
subclass of: Inherited mitochondrial diseases
subclass of: Mitochondrial neurological genetic diseases
subclass of: Organ-specific metabolic rare diseases
subclass of: Metabolic neurological rare diseases

Autosomal dominant rare diseases
type: Class
comment: 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.
subclass of: Autosomal dominant diseases
subclass of: Monogenic disorders

Enzyme deficiencies
type: Class
comment: 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.
subclass of: Inherited genetic diseases
subclass of: Rare genetic disorders
subclass of: Inborn errors of metabolism

Genetic rare diseases
type: Class
comment: Rare diseases caused by abnormalities or mutations in genes, often inherited from parents.
subclass of: Inherited genetic diseases

Rare diseases
type: Class
comment: Conditions that affect a small percentage of the population, often characterized by complex symptoms and limited treatment options.
subclass of: Diseases

Organ-specific autoimmune rare diseases
type: Class
comment: Autoimmune disorders that target specific organs or tissues.
subclass of: Autoimmune rare diseases

Organic acid metabolism disorders
type: Class
comment: 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.
subclass of: Rare genetic disorders
subclass of: Inborn errors of metabolism

Endocrine autoimmune rare diseases
type: Class
comment: Autoimmune disorders that affect the endocrine system, leading to hormonal imbalances and dysfunction.
subclass of: Autoimmune rare diseases
subclass of: Endocrine disorders

Chronic obstructive pulmonary disease (copd)
type: Class
comment: A progressive lung disease that causes airflow obstruction, making it difficult to breathe. It includes conditions such as chronic bronchitis and emphysema.
subclass of: Copd

Pneumonia
type: Class
comment: 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.
subclass of: Respiratory infections

Breast cancer
type: Class
comment: Cancer that forms in the cells of the breasts, typically in the ducts or lobules.
subclass of: Cancer

Glomerulonephritis
type: Class
comment: Inflammation of the glomeruli, which are tiny filters in the kidneys that help remove waste and excess fluid from the blood.
subclass of: Renal diseases

Monogenic metabolic disorders
type: Class
comment: 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.
subclass of: Monogenic disorders
subclass of: Inborn errors of metabolism

Lung cancer
type: Class
comment: Cancer that begins in the lungs, usually in the cells lining the air passages.
subclass of: Cancer

X-linked dominant diseases
type: Class
comment: 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.
subclass of: Mendelian disorders

Pituitary insufficiency disorders
type: Class
comment: These disorders occur when the pituitary gland does not produce enough hormones, leading to various hormonal imbalances and deficiencies.
subclass of: Pituitary insufficiency

Skeletal dysplasias
type: Class
comment: A group of genetic disorders that affect bone and cartilage development, leading to abnormal growth and skeletal deformities.
subclass of: Mendelian disorders
subclass of: Bone dysplasias
subclass of: Skeletal genetic rare diseases

X-linked dominant rare diseases
type: Class
comment: 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.
subclass of: X-linked dominant diseases
subclass of: Rare genetic disorders
subclass of: Genetic rare diseases

Selective iga deficiency
type: Class
comment: 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.
subclass of: Primary immunodeficiency disorders

Combined immunodeficiency disorders
type: Class
comment: This category includes disorders where multiple components of the immune system are affected, leading to a severe impairment in immune function.
subclass of: Primary immunodeficiency disorders

Viral zoonotic infections
type: Class
comment: Infections caused by viruses that can be transmitted between animals and humans.
subclass of: Viral infections
subclass of: Zoonotic infections

Pituitary hypersecretion disorders
type: Class
comment: Disorders characterized by excessive secretion of hormones by the pituitary gland, leading to hormonal imbalances and associated health issues.
subclass of: Pituitary disorders

Hearing loss
type: Class
comment: Partial or complete loss of hearing, which can be caused by various factors such as age, noise exposure, infections, or genetic conditions.
subclass of: Otologic disorders

Chronic diseases
type: Class
comment: Long-term conditions that often progress slowly and may require ongoing management, such as diabetes or arthritis.
subclass of: Diseases

Helminthic infections
type: Class
comment: Parasitic infections caused by various types of worms, including roundworms, tapeworms, and flukes, which can affect different organs and systems.
subclass of: Parasitic infections

Uncommon cancers
type: Class
comment: Rare types of cancer that occur infrequently and may have unique characteristics or treatment challenges compared to more common forms of cancer.
subclass of: Rare cancers

Orthopedic conditions
type: Class
comment: Refers to a wide range of conditions that affect the musculoskeletal system, including fractures, sprains, strains, and deformities.
subclass of: Musculoskeletal diseases

Muscular dystrophy
type: Class
comment: A group of genetic disorders that cause progressive weakness and loss of muscle mass.
subclass of: Muscular genetic diseases
subclass of: Musculoskeletal diseases
subclass of: Monogenic disorders

Neurological rare diseases
type: Class
comment: Rare diseases that primarily affect the nervous system, including the brain, spinal cord, and nerves, leading to various neurological symptoms and impairments.
subclass of: Neurological diseases
subclass of: Rare diseases

Circadian rhythm disorders
type: Class
comment: 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.
subclass of: Sleep disorders

Chromosomal disorders
type: Class
comment: These are genetic disorders caused by abnormalities in the structure or number of chromosomes in a person's cells.
subclass of: Genetic diseases

Parasitic infections
type: Class
comment: Infections caused by parasites, which can affect various organs and systems in the body.
subclass of: Infectious diseases

Phagocytic cell deficiencies
type: Class
comment: Phagocytic cells, such as neutrophils and macrophages, are responsible for engulfing and destroying pathogens. Deficiencies in these cells can lead to recurrent infections.
subclass of: Immunodeficiency disorders

Ear infections
type: Class
comment: Inflammation or infection of the ear, often causing pain, fluid buildup, and hearing difficulties.
subclass of: Otologic disorders

Adrenal tumors
type: Class
comment: Abnormal growths or masses that develop in the adrenal glands, which can be benign or malignant.
subclass of: Adrenal disorders

Non-hodgkin lymphoma
type: Class
comment: A type of lymphoma that originates in the lymphocytes, which are a type of white blood cell.
subclass of: Lymphoma

Rare skin cancers
type: Class
comment: 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.
subclass of: Uncommon cancers

Periodontal disease
type: Class
comment: A more advanced form of gum disease that affects the tissues and structures supporting the teeth, leading to bone loss and potential tooth loss.
subclass of: Dental diseases

Viral skin infections
type: Class
comment: These infections are caused by viruses that affect the skin, causing conditions such as herpes simplex, shingles, and warts.
subclass of: Viral infections
subclass of: Infectious skin diseases

Rhinitis
type: Class
comment: Inflammation of the nasal passages, often resulting in symptoms like sneezing, runny nose, and congestion.
subclass of: Nasal disorders

Skin and soft tissue infections
type: Class
comment: Infections that affect the skin, subcutaneous tissue, or underlying structures, causing conditions like cellulitis, abscesses, or impetigo.
subclass of: Infectious skin diseases
subclass of: Skin infections

Rare neurodevelopmental disorders
type: Class
comment: Disorders that affect the development of the nervous system, leading to cognitive, motor, or behavioral impairments.
subclass of: Neurological rare diseases

Support and advocacy for rare cancer patients
type: Class
comment: 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.
subclass of: Rare cancers

Mental health disorders
type: Class
comment: Conditions that affect a person's emotional, psychological, and social well-being, including depression, anxiety, and schizophrenia.
subclass of: Diseases

Bacterial zoonotic infections
type: Class
comment: Infections caused by bacteria that can be transmitted between animals and humans.
subclass of: Bacterial infections
subclass of: Zoonotic infections

Gastrointestinal genetic rare diseases
type: Class
comment: Disorders that affect the gastrointestinal tract, including conditions like gastritis, gastroenteritis, and inflammatory bowel disease.
subclass of: Gastrointestinal genetic diseases
subclass of: Genetic rare diseases

Hemoglobinopathies
type: Class
comment: 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.
subclass of: Monogenic hematologic disorders
subclass of: Hematological genetic rare diseases

Sudden hearing loss
type: Class
comment: A rapid loss of hearing that occurs within a short period of time, often without any apparent cause.
subclass of: Hearing loss

Metabolic genetic diseases
type: Class
comment: 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.
subclass of: Genetic diseases
subclass of: Metabolic disorders

Vesiculobullous dermatosis
type: Class
comment: Refers to skin conditions characterized by the formation of vesicles or bullae, which are fluid-filled blisters on the skin.
subclass of: Bullous dermatosis

Rare cancers
type: Class
comment: Rare types of cancer that occur infrequently and may have unique characteristics or treatment challenges compared to more common forms of cancer.
subclass of: Cancer
subclass of: Rare diseases

Phagocytic immunodeficiencies
type: Class
comment: Immunodeficiencies that involve defects in phagocytic cells, which are responsible for engulfing and destroying pathogens.
subclass of: Primary immunodeficiency disorders
subclass of: Immunodeficiency genetic diseases
subclass of: Phagocytic cell deficiencies

B cell deficiencies
type: Class
comment: B cell deficiencies refer to immunodeficiency disorders that are characterized by a dysfunction or deficiency in B cells, which are responsible for producing antibodies.
subclass of: Blood disorders
subclass of: Secondary immunodeficiency disorders
subclass of: Seprimary immunodeficiency disorders

Dementia
type: Class
comment: A general term for a decline in cognitive ability, memory, and thinking skills that interfere with daily life.
subclass of: Neurological diseases

Renal genetic diseases
type: Class
comment: Genetic disorders that primarily affect the kidneys, leading to impaired kidney function and potential complications.
subclass of: Renal diseases
subclass of: Rare genetic disorders

Fungal opportunistic infections
type: Class
comment: 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.
subclass of: Opportunistic fungal infections
subclass of: Opportunistic infections

Familial adenomatous polyposis
type: Class
comment: A genetic disorder characterized by the development of numerous polyps in the colon and rectum.
subclass of: Gastrointestinal polyposis syndromes
subclass of: Gastrointestinal genetic rare diseases
subclass of: Autosomal dominant rare diseases
subclass of: Gastrointestinal inherited rare diseases

Sore throat
type: Class
comment: Pain or irritation in the throat, often caused by viral or bacterial infections.
subclass of: Throat disorders

Respiratory genetic diseases
type: Class
comment: 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.
subclass of: Respiratory diseases
subclass of: Inherited rare diseases

Polycystic kidney disease
type: Class
comment: A genetic disorder where fluid-filled cysts develop in the kidneys, leading to their enlargement and eventual loss of function.
subclass of: Renal cystic diseases

Infectious diseases
type: Class
comment: Illnesses caused by pathogens such as bacteria, viruses, fungi, or parasites that can be transmitted from person to person.
subclass of: Diseases

Wiskott-aldrich syndrome
type: Class
comment: 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.
subclass of: T cell deficiency disorders
subclass of: Monogenic hematologic disorders
subclass of: Monogenic immunologic disorders
subclass of: Hematological genetic rare diseases
subclass of: Autosomal recessive rare diseases
subclass of: X-linked recessive rare diseases
subclass of: Syndromic inherited rare diseases

Thrombocytopenia
type: Class
comment: A condition characterized by a low platelet count, which can result in excessive bleeding or easy bruising.
subclass of: Blood disorders

Hyperlipidemias
type: Class
comment: 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.
subclass of: Lipoprotein metabolism disorders

Severe combined immunodeficiency (scid)
type: Class
comment: 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.
subclass of: Monogenic immunologic disorders
subclass of: Combined immunodeficiency diseases
subclass of: Autosomal recessive rare diseases

Musculoskeletal diseases
type: Class
comment: Conditions that affect the muscles, bones, joints, and connective tissues, such as arthritis and osteoporosis.
subclass of: Musculoskeletal disorders
subclass of: Chronic diseases

Gastroesophageal reflux disease
type: Class
comment: A condition where stomach acid flows back into the esophagus, causing symptoms like heartburn.
subclass of: Gastrointestinal diseases

Mosquito-borne infections
type: Class
comment: 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.
subclass of: Vector-borne infections

Throat disorders
type: Class
comment: Conditions that affect the throat, including conditions like sore throat, tonsillitis, and laryngitis.
subclass of: Diseases

Bipolar disorder
type: Class
comment: A mood disorder characterized by extreme shifts in mood, energy levels, and activity levels.
subclass of: Mental health disorders

Fungal infections
type: Class
comment: Infections caused by fungi, which can affect the skin, nails, respiratory system, or internal organs.
subclass of: Infectious diseases

Mitochondrial encephalopathy
type: Class
comment: A condition characterized by dysfunction or damage to the brain, leading to various neurological symptoms.
subclass of: Neurological genetic diseases
subclass of: Mitochondrial diseases
subclass of: Mitochondrial rare diseases
subclass of: Organ-specific metabolic rare diseases
subclass of: Metabolic neurological rare diseases

Secondary mitochondrial diseases
type: Class
comment: Secondary mitochondrial diseases are those that are caused by external factors, such as certain medications or toxins, that impair mitochondrial function.
subclass of: Mitochondrial diseases

Mitocondrial dna depletion syndromes
type: Class
comment: A group of disorders characterized by a reduction in the amount of mitochondrial DNA (mtDNA) in cells, leading to impaired mitochondrial function.
subclass of: Primary mitochondrial diseases
subclass of: Mitochondrial depletion syndromes

Cholesterol metabolism disorders
type: Class
comment: Disorders that affect the body's ability to properly metabolize cholesterol, leading to abnormal levels of cholesterol in the blood and tissues.
subclass of: Disorders of lipid metabolism
subclass of: Hyperlipidemias

Sarcomas
type: Class
comment: Rare cancers that develop in the connective tissues of the body, including muscles, bones, tendons, and cartilage.
subclass of: Uncommon cancers

Growth hormone disorders
type: Class
comment: 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.
subclass of: Pituitary gland disorders

Spinal muscular atrophy
type: Class
comment: 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.
subclass of: Muscular genetic diseases
subclass of: Developmental neurological genetic diseases
subclass of: Monogenic disorders
subclass of: Neuromuscular rare diseases
subclass of: Degenerative neurological rare diseases
subclass of: Genetic neurological rare diseases

Pigmentary skin diseases
type: Class
comment: This subcategory includes conditions that affect the coloration of the skin, such as vitiligo, melasma, and hyperpigmentation disorders.
subclass of: Dermatosis

Astrocytoma
type: Class
comment: A type of brain tumor that develops from cells called astrocytes.
subclass of: Brain cancer

Infertility
type: Class
comment: The inability to conceive after a year of regular unprotected intercourse, or the inability to carry a pregnancy to term.
subclass of: Reproductive system disorders

Hormonal imbalances
type: Class
comment: Disruptions in the normal levels or ratios of reproductive hormones, which can affect fertility and reproductive health.
subclass of: Reproductive endocrine disorders

Renal diseases
type: Class
comment: Disorders that affect the kidneys, including conditions like chronic kidney disease, kidney stones, and kidney infections.
subclass of: Diseases

Papulosquamous dermatosis
type: Class
comment: Describes skin conditions characterized by the presence of papules (small raised bumps) and scales, often associated with inflammation and shedding of the skin.
subclass of: Inflammatory dermatosis

Deletion syndromes
type: Class
comment: A chromosomal abnormality where a portion of a chromosome is missing or deleted, leading to various genetic disorders and developmental issues.
subclass of: Chromosomal genetic diseases
subclass of: Syndromic inherited rare diseases

Pituitary insufficiency
type: Class
comment: Inadequate production or release of hormones by the pituitary gland, often leading to hormonal deficiencies.
subclass of: Hormone deficiency disorders
subclass of: Pituitary hormone deficiencies

Autosomal recessive rare diseases
type: Class
comment: 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.
subclass of: Autosomal recessive disorders

Endocrine disorders
type: Class
comment: Conditions that affect the endocrine system, which produces hormones that regulate various bodily functions.
subclass of: Diseases

Zoonotic vector-borne infections
type: Class
comment: 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.
subclass of: Vector-borne infections
subclass of: Zoonotic infections

Thyroid disorders
type: Class
comment: Conditions that affect the thyroid gland, which produces hormones that regulate metabolism, growth, and development.
subclass of: Endocrine disorders

Clear cell carcinoma
type: Class
comment: A specific subtype of ovarian cancer characterized by the presence of clear cells.
subclass of: Ovarian cancer

Pharyngitis
type: Class
comment: Inflammation of the pharynx, resulting in a sore throat and difficulty swallowing.
subclass of: Sore throat

Dermatosis lichenoides
type: Class
comment: A group of skin disorders characterized by the presence of lichenoid eruptions on the skin.
subclass of: Inflammatory skin diseases

Lipid storage disorders
type: Class
comment: Disorders characterized by the abnormal accumulation of lipids in various tissues and organs, leading to impaired function.
subclass of: Lipid metabolism disorders
subclass of: Rare genetic disorders
subclass of: Inborn errors of metabolism
subclass of: Organ-specific metabolic rare diseases

Invasive breast cancer
type: Class
comment: Breast cancer that has spread from the ducts or lobules to nearby tissues in the breast.
subclass of: Breast cancer

Bone dysplasias
type: Class
comment: A group of genetic disorders that affect bone development and growth, resulting in various skeletal abnormalities.
subclass of: Musculoskeletal disorders
subclass of: Skeletal genetic diseases

Mitochondrial genetic diseases
type: Class
comment: Genetic diseases that are caused by mutations in the DNA of mitochondria, the energy-producing structures within cells.
subclass of: Single gene genetic diseases
subclass of: Mitochondrial rare diseases

Parasitic infectious diseases
type: Class
comment: 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.
subclass of: Rare infectious diseases
subclass of: Parasitic infections

Sensorineural hearing loss
type: Class
comment: Hearing loss caused by damage to the inner ear or the auditory nerve, often resulting in difficulty hearing sounds at different frequencies.
subclass of: Hearing loss

Disorders of lipid metabolism
type: Class
comment: 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.
subclass of: Lipid metabolism disorders
subclass of: Chronic diseases

Hematological genetic diseases
type: Class
comment: Genetic disorders that affect the blood and blood-forming tissues, leading to abnormalities in red blood cells, white blood cells, or platelets.
subclass of: Blood disorders
subclass of: Inherited rare diseases

Growth disorders
type: Class
comment: Conditions that interfere with normal growth and development, often caused by hormonal imbalances.
subclass of: Endocrine disorders

Cancer predisposition syndromes
type: Class
comment: 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.
subclass of: Cancer
subclass of: Rare genetic disorders

Contact dermatitis
type: Class
comment: 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.
subclass of: Allergic skin diseases
subclass of: Dermatitis

Organ-specific metabolic genetic diseases
type: Class
comment: 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.
subclass of: Metabolic genetic diseases
subclass of: Rare genetic disorders

Viral rare infectious diseases
type: Class
comment: 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.
subclass of: Rare infectious diseases
subclass of: Viral infections

Arrhythmias
type: Class
comment: Abnormal heart rhythms that can cause the heart to beat too fast, too slow, or irregularly.
subclass of: Cardiovascular diseases

Skeletal genetic rare diseases
type: Class
comment: Genetic rare diseases that primarily affect the bones, joints, and connective tissues, leading to abnormalities in skeletal development, structure, or function.
subclass of: Skeletal genetic diseases

Rare genetic disorders
type: Class
comment: Rare genetic disorders are genetic disorders that occur infrequently in the population.
subclass of: Inherited rare diseases

Rare infectious diseases
type: Class
comment: Rare diseases caused by uncommon pathogens or infections that may have atypical symptoms or require specialized treatment approaches.
subclass of: Infectious diseases
subclass of: Rare diseases

Viral infections
type: Class
comment: Infections caused by viruses, which can affect various organs and systems in the body and cause a wide range of symptoms.
subclass of: Infectious diseases

Advanced prostate cancer
type: Class
comment: Refers to prostate cancer that has spread beyond the prostate gland to nearby tissues or other parts of the body.
subclass of: Prostate cancer

Inherited rare diseases
type: Class
comment: These are rare diseases that are passed down from parents to their children through genetic mutations or abnormalities.
subclass of: Genetic diseases
subclass of: Rare diseases

Monogenic neurodevelopmental disorders
type: Class
comment: This subcategory includes genetic diseases that primarily affect the development and function of the nervous system, leading to various neurological or developmental abnormalities.
subclass of: Monogenic disorders
subclass of: Developmental neurological genetic diseases
subclass of: Rare neurodevelopmental disorders
subclass of: Genetic neurological rare diseases

Kidney disease
type: Class
comment: Conditions that affect the structure and function of the kidneys, leading to impaired filtration and regulation of waste products in the body.
subclass of: Chronic diseases
subclass of: Renal diseases

Adrenal genetic disorders
type: Class
comment: Disorders that disrupt the normal functioning of the adrenal glands, resulting in hormonal abnormalities.
subclass of: Adrenal genetic diseases
subclass of: Non-syndromic endocrine genetic diseases

Neurocutaneous disorders
type: Class
comment: A group of genetic disorders that affect both the nervous system and the skin, causing various neurological and dermatological abnormalities.
subclass of: Rare genetic disorders
subclass of: Neurological diseases

Recurrent prostate cancer
type: Class
comment: Describes prostate cancer that has returned or reappeared after initial treatment, even if it was previously considered cured or in remission.
subclass of: Advanced prostate cancer

Syndromic inherited rare diseases
type: Class
comment: Disorders characterized by a combination of physical and developmental abnormalities, often caused by genetic mutations.
subclass of: Rare genetic disorders

Atherosclerosis
type: Class
comment: A condition where plaque builds up in the arteries, narrowing them and restricting blood flow.
subclass of: Heart disease

Metabolic neurological rare diseases
type: Class
comment: Rare diseases that result from abnormalities in the body's metabolic processes, leading to dysfunction in the nervous system.
subclass of: Metabolic rare diseases
subclass of: Neurological rare diseases

Bacterial opportunistic infections
type: Class
comment: Infections caused by bacteria, which can affect various parts of the body and cause a wide range of symptoms.
subclass of: Bacterial infections
subclass of: Opportunistic infections

Menstrual disorders
type: Class
comment: Abnormalities in the menstrual cycle, such as heavy or prolonged periods, irregular periods, or absence of menstruation.
subclass of: Reproductive system disorders

Major depressive disorder
type: Class
comment: Characterized by a prolonged and intense feeling of sadness or low mood, often accompanied by feelings of hopelessness, worthlessness, or emptiness.
subclass of: Depression

Hormone overproduction
type: Class
comment: Refers to conditions where the adrenal glands produce excessive amounts of hormones, leading to various symptoms and health problems.
subclass of: Hormonal imbalance
subclass of: Adrenal disorders

Eating disorders
type: Class
comment: Mental health conditions that involve unhealthy eating habits and distorted body image, such as anorexia nervosa, bulimia nervosa, and binge eating disorder.
subclass of: Mental health disorders

Infertility-related genetic diseases
type: Class
comment: These are genetic conditions that can lead to difficulties in conceiving or carrying a pregnancy to term.
subclass of: Genetic disorders affecting fertility
subclass of: Rare diseases
subclass of: Reproductive organ genetic disorders

Non-invasive bladder cancer
type: Class
comment: 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.
subclass of: Bladder cancer

Syndromic endocrine genetic diseases
type: Class
comment: 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.
subclass of: Endocrine genetic diseases
subclass of: Genetic rare diseases

Aggressive prostate cancer
type: Class
comment: Refers to prostate cancer that grows and spreads quickly, often requiring more aggressive treatment approaches.
subclass of: Advanced prostate cancer

Sexually transmitted infections
type: Class
comment: Infections that are transmitted through sexual contact, causing conditions such as chlamydia, gonorrhea, or HIV.
subclass of: Infectious diseases

Immunodeficiency disorders
type: Class
comment: Conditions where the immune system is weakened or impaired, making individuals more susceptible to infections.
subclass of: Diseases

Polycystic ovary syndrome (pcos)
type: Class
comment: 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.
subclass of: Gonadal disorders

Triple-negative breast cancer
type: Class
comment: Breast cancer that lacks estrogen receptors, progesterone receptors, and HER2 protein.
subclass of: Breast cancer

Gastrointestinal diseases
type: Class
comment: Disorders that affect the digestive system, including conditions like irritable bowel syndrome, ulcers, and inflammatory bowel disease.
subclass of: Diseases

Leukemia
type: Class
comment: Cancer of the blood or bone marrow, characterized by the overproduction of abnormal white blood cells.
subclass of: Blood disorders
subclass of: Cancer

Monogenic ophthalmic disorders
type: Class
comment: This subcategory includes genetic diseases that primarily affect the eyes and vision, leading to various eye-related abnormalities or conditions.
subclass of: Ophthalmological genetic diseases
subclass of: Monogenic disorders

Inherited mitochondrial diseases
type: Class
comment: Mitochondrial diseases that are passed down from parents to their children through genetic mutations.
subclass of: Mitochondrial diseases

Neurodegenerative rare diseases
type: Class
comment: Diseases characterized by the progressive degeneration and loss of nerve cells in the brain or other parts of the nervous system.
subclass of: Neurological rare diseases

Adrenal disorders
type: Class
comment: Conditions that affect the adrenal glands, which produce hormones such as cortisol and adrenaline.
subclass of: Endocrine disorders

Human papillomavirus (hpv)
type: Class
comment: 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.
subclass of: Sexually transmitted infections
subclass of: Viral infections

Streptococcal infections
type: Class
comment: 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.
subclass of: Bacterial infections

Mitochondrial rare diseases
type: Class
comment: 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.
subclass of: Rare genetic disorders

Depression
type: Class
comment: A mood disorder characterized by persistent feelings of sadness, loss of interest or pleasure, and a lack of motivation.
subclass of: Mental health disorders

Gliomas
type: Class
comment: Tumors that originate from glial cells, which provide support and protection to neurons in the brain.
subclass of: Malignant brain tumors
subclass of: Primary brain tumors

Lipoprotein metabolism disorders
type: Class
comment: Disorders that affect the metabolism of lipoproteins, which are responsible for transporting lipids in the bloodstream.
subclass of: Lipid metabolism disorders

Acute gastroenteritis
type: Class
comment: 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.
subclass of: Gastroenteritis

B-cell immunodeficiencies
type: Class
comment: Immunodeficiencies that specifically affect B cells, leading to reduced antibody production and increased susceptibility to infections.
subclass of: Primary antibody deficiencies

Disorders of amino acid metabolism
type: Class
comment: 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.
subclass of: Rare genetic disorders
subclass of: Inborn errors of metabolism

Systemic
type: Class
comment: Fungal infections that spread throughout the body, affecting multiple organs and systems, often occurring in individuals with weakened immune systems.
subclass of: Fungal infections

Asthma
type: Class
comment: A chronic condition characterized by inflammation and narrowing of the airways, leading to recurring episodes of wheezing, coughing, chest tightness, and shortness of breath.
subclass of: Chronic respiratory diseases

Pediatric cancers
type: Class
comment: Pediatric cancers are rare cancers that specifically occur in children and adolescents, including various types such as neuroblastoma, Wilms tumor, and rhabdomyosarcoma.
subclass of: Uncommon cancers

Skin infections
type: Class
comment: Infections that affect the skin, causing symptoms such as redness, swelling, and pain.
subclass of: Bacterial infections

Early-onset dementia
type: Class
comment: 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.
subclass of: Dementia

Pituitary tumors
type: Class
comment: Abnormal growths or masses that develop in the pituitary gland, which can cause hormonal imbalances and other symptoms.
subclass of: Pituitary disorders

Genetic disorders affecting reproductive organs
type: Class
comment: Genetic conditions that specifically impact the structure or function of the reproductive organs, such as the uterus, ovaries, fallopian tubes, or testes.
subclass of: Reproductive genetic diseases

Atopic dermatitis
type: Class
comment: Also known as eczema, it is a chronic condition characterized by dry, itchy, and inflamed skin.
subclass of: Allergic skin diseases
subclass of: Eczematous dermatosis

Familial thoracic aortic aneurysm and dissection
type: Class
comment: A genetic condition that causes the aorta in the chest to become weakened and prone to aneurysms or dissections.
subclass of: Aortic genetic diseases

Fatty acid metabolism disorders
type: Class
comment: 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.
subclass of: Lipid metabolism disorders
subclass of: Inborn errors of metabolism
subclass of: Organ-specific metabolic genetic diseases
subclass of: Organ-specific metabolic rare diseases

Retinal dystrophies
type: Class
comment: 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.
subclass of: Ophthalmological genetic diseases

Brain cancer
type: Class
comment: Cancer that originates in the brain or spreads to the brain from other parts of the body.
subclass of: Cancer

Monogenic renal disorders
type: Class
comment: This subcategory includes genetic diseases that primarily affect the kidneys, leading to abnormalities in kidney function or structure.
subclass of: Monogenic disorders
subclass of: Renal genetic rare diseases

Bronchitis
type: Class
comment: 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.
subclass of: Respiratory diseases

Genital infections
type: Class
comment: Viral infections that specifically affect the genital area, including sexually transmitted infections such as herpes, human papillomavirus (HPV), and HIV.
subclass of: Sexually transmitted infections
subclass of: Reproductive system disorders
subclass of: Viral infections

Gastrointestinal inherited rare diseases
type: Class
comment: 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.
subclass of: Rare genetic disorders
subclass of: Gastrointestinal diseases

Pituitary hormone deficiencies
type: Class
comment: Conditions where the pituitary gland fails to produce adequate amounts of specific hormones, resulting in hormonal imbalances and related symptoms.
subclass of: Pituitary gland disorders

Trisomy
type: Class
comment: 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.
subclass of: Chromosomal disorders

Gallbladder diseases
type: Class
comment: Disorders that affect the gallbladder, such as gallstones or inflammation.
subclass of: Gastrointestinal diseases

Genetic diseases
type: Class
comment: Disorders caused by abnormalities or mutations in genes, which can be inherited or occur spontaneously.
subclass of: Diseases

Heart disease
type: Class
comment: General term for various conditions affecting the heart.
subclass of: Cardiovascular diseases

Zoonotic infections
type: Class
comment: Infections that can be transmitted between animals and humans, causing conditions such as rabies, Lyme disease, or avian influenza.
subclass of: Infectious diseases

Hormone deficiency disorders
type: Class
comment: Conditions characterized by a lack of production or release of certain hormones by the pituitary gland.
subclass of: Pituitary dysfunction

Autoimmune diseases
type: Class
comment: Conditions where the immune system mistakenly attacks healthy cells and tissues in the body.
subclass of: Chronic diseases

Food poisoning
type: Class
comment: 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.
subclass of: Gastrointestinal infections

Gastrointestinal infections
type: Class
comment: Infections that affect the gastrointestinal tract, often caused by bacteria, viruses, or parasites.
subclass of: Infectious diseases
subclass of: Gastrointestinal diseases

Neurodegenerative diseases
type: Class
comment: A group of disorders characterized by the progressive degeneration of nerve cells, leading to functional and structural changes in the brain.
subclass of: Chronic diseases
subclass of: Neurological diseases

Sarcoma
type: Class
comment: A rare type of colorectal cancer that develops in the connective tissues, such as muscles or blood vessels, of the colon or rectum.
subclass of: Sarcomas

Developmental neurological genetic diseases
type: Class
comment: Genetic diseases that affect the normal growth and development of an individual, often leading to physical, cognitive, or behavioral impairments.
subclass of: Neurogenetic syndromes

Renal failure
type: Class
comment: 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.
subclass of: Renal diseases

Respiratory genetic disorders
type: Class
comment: Genetic diseases that primarily affect the respiratory system, leading to breathing difficulties or lung-related problems.
subclass of: Respiratory genetic diseases
subclass of: Rare genetic disorders