| Description | Disease gene evidence scores by manual literature curation |
| Measurement | association by literature curation |
| Association | gene-disease associations by integrating evidence from manual literature curation |
| Category | disease or phenotype associations |
| Resource | DISEASES |
| Citation(s) | |
| Last Updated | 2025 Apr 09 |
| Stats |
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Gene Attribute
Gene Similarity
Attribute Similarity
UMAP
1573 sets of genes involed in diseases from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
| Gene Set | Description |
|---|---|
| Organ system cancer | A cancer that is classified based on the organ it starts in. |
| Autosomal dominant disease | An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. |
| Keratosis | |
| Disease of anatomical entity | A disease that manifests in a defined anatomical structure. |
| Syndrome | A disease comprised of a group of signs and symptoms that occur together and characterize a particular abnormality. |
| Cancer | A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease. |
| Acanthoma | |
| Autosomal genetic disease | A monogenic disease that is caused by a mutation in a single gene on one of the non-sex chromosomes. |
| Basal cell carcinoma | A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471). |
| Seborrheic keratosis | OMIM mapping confirmed by DO. [SN]. |
| Integumentary system disease | A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages. |
| Immune system disease | A disease of anatomical entity that is located_in the immune system. |
| Carcinoma | A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. |
| Multiple endocrine neoplasia | |
| Skin benign neoplasm | |
| Squamous cell neoplasm | A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities. |
| Skin carcinoma | A skin cancer that is located_in tissues of the skin and develops from epithelial cells. |
| Hematologic cancer | An immune system cancer located_in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes. |
| Skin disease | An integumentary system disease that is located_in skin. |
| Borst-Jadassohn intraepidermal carcinoma | |
| Immune system cancer | An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system. |
| Cell type benign neoplasm | A benign neoplasm that is classified by the type of cell or tissue from which it is derived. |
| Genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |
| Organ system benign neoplasm | A benign neoplasm that is classified by the organ system from which it is arising from. |
| Integumentary system benign neoplasm | An organ system benign neoplasm located_in the integumentary system organs. |
| Integumentary system cancer | An organ system cancer that is located_in the skin, hair and nails. |
| T-cell non-Hodgkin lymphoma | |
| Disease | A disease is a disposition that describes states of disease associated with a particular sample and/or organism. |
| Disease of cellular proliferation | A disease that is characterized by abnormally rapid cell division. |
| Mycosis fungoides | OMIM mapping confirmed by DO. [SN]. |
| Lymphatic system disease | An immune system disease that is located_in the lymphatic system. |
| Hematopoietic system disease | An immune system disease that has_material_basis_in hematopoietic cells. |
| Monogenic disease | A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele). |
| Skin cancer | An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells. |
| Multiple endocrine neoplasia type 2A | An autosomal dominant disease characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis. |
| Lymphatic system cancer | An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue. |
| Benign neoplasm | A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize. |
| non-Hodgkin lymphoma | A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma. |
| Primary cutaneous T-cell non-Hodgkin lymphoma | |
| Cell type cancer | A cancer that is classified by the type of cell from which it is derived. |
| Lymphoma | A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas.|A cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.|A general term for various neoplastic diseases of the lymphoid tissue.|Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease. |
| Mature T-cell and NK-cell lymphoma | A non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells. |
| Peripheral T-cell lymphoma | A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus. |
| Inherited metabolic disorder | A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inhertied enzyme abnormality. |
| Bone inflammation disease | A bone disease that results_in inflammation of the located_in bone. |
| Systemic lupus erythematosus | A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. |
| Lupus erythematosus | |
| Vasculitis | A vascular disease that is characterized by inflammation of the blood vessels. |
| Gastrointestinal system disease | A disease of anatomical entity that is located_in the gastrointestinal tract. |
| Ankylosing spondylitis | A bone inflammation disease that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage. |
| Polyarteritis nodosa | |
| Arthritis | Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints. |
| X-linked monogenic disease | |
| Chromosomal duplication syndrome | |
| Chromosomal disease | A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes. |
| Autoimmune disease of musculoskeletal system | |
| Hypersensitivity reaction disease | An immune system disease that is caused by abnormal immune responses. |
| Down syndrome | A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. |
| Spinal disease | |
| Chronic recurrent multifocal osteomyelitis | |
| Lymphoproliferative syndrome | |
| Bone disease | A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. |
| X-linked recessive disease | |
| Autosomal dominant familial periodic fever | |
| Castleman disease | |
| Osteomyelitis | A bone inflammation disease that results_from infection located_in bone and located_in bone marrow. |
| Bacterial infectious disease | A disease by infectious agent that results_in infection, has_material_basis_in Bacteria. |
| Inflammatory bowel disease | An intestinal disease characterized by inflammation located_in all parts of digestive tract. |
| Muscular dystrophy | A myopathy is characterized by progressive skeletal muscle weakness degeneration. |
| Muscle tissue disease | |
| Myopathy | A muscular disease in which the muscle fibers do not function resulting in muscular weakness. |
| Musculoskeletal system disease | A disease of anatomical entity that occurs in the muscular and/or skeletal system. |
| limb-girdle muscular dystrophy | A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles. |
| Muscular disease | A musculoskeletal system disease that affects the muscles. |
| Disease of metabolism | A disease that involving errors in metabolic processes of building or degradation of molecules. |
| Disease by infectious agent | A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. |
| Mevalonic aciduria | OMIM mapping confirmed by DO. [SN]. |
| Cardiovascular system disease | A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. |
| Autoimmune disease | |
| Primary immunodeficiency disease | An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation. |
| Connective tissue disease | A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. |
| Rheumatoid arthritis | An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint. |
| X-linked agammaglobulinemia | |
| Fungal infectious disease | A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body. |
| Vascular disease | A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart. |
| B cell deficiency | A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly. |
| Hypersensitivity reaction type IV disease | |
| Agammaglobulinemia | A B cell deficiency that is caused by a reduction in all types of gamma globulins. |
| Autoimmune disease of exocrine system | |
| Sjogren's syndrome | A hypersensitivity reaction type II disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva. |
| Peroxisomal disease | An inherited metabolic disorder that involves peroxisome malfunction. |
| Intestinal disease | A gastrointestinal system disease that is located_in the intestine. |
| Schnitzler syndrome | |
| Neuropathy | A nervous system disease that is located in the nervous system. |
| Charcot-Marie-Tooth disease | |
| Neurodegenerative disease | A central nervous system disease that results_in the progressive deterioration of function or structure of neurons. |
| Central nervous system disease | A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system. |
| Neuromuscular disease | A neuropathy that affect the nerves that control the voluntary muscles. |
| Auditory system disease | |
| Nonsyndromic deafness | An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms. |
| Sensory system disease | A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell). |
| Nervous system disease | A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. |
| Peripheral nervous system disease | A nervous system disease that affects the peripheral nervous system. |
| Hirschsprung's disease | A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel. |
| Motor neuron disease | A neurodegenerative disease that is located_in the motor neurones. |
| Carbohydrate metabolic disorder | An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates. |
| Amyotrophic lateral sclerosis | A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts (MeSH).|An autosomal dominant inherited form of amyloidosis.|A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94) |
| Overnutrition | Updated outdated UMLS CUI. |
| Megacolon | A colonic disease that is characterized by an abnormal dilation of the colon. |
| Colonic disease | |
| Charcot-Marie-Tooth disease type 3 | OMIM mapping confirmed by DO. [SN]. |
| Autosomal recessive disease | An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. |
| Physical disorder | A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. |
| Eye disease | An eye and adnexa disease that is located_in the eye. |
| Nephronophthisis | An autosomal recessive disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). |
| Leber congenital amaurosis | A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. |
| Urinary system disease | A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra. |
| Bardet-Biedl syndrome | An autosomal recessive disease that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. |
| Nutrition disease | An acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods. |
| Kidney disease | A disease affecting the kidneys |
| Acquired metabolic disease | A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption. |
| Parkinson's disease | A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)|A neurodegenerative disease that results_from degeneration of the central nervous system that often impairs the sufferer's motor skills, speech, and other functions. |
| Retinal disease | An eye disease that is located_in the retina. |
| Complete generalized lipodystrophy | |
| Cardiomyopathy | A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).|A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. |
| Heart disease | A cardiovascular system disease that involves the heart. |
| Epilepsy | A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.|A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy) (MeSH).|A disorder characterized by recurrent seizures |
| Congenital muscular dystrophy | A muscular dystrophy that is an autosomal recessive disorder present at birth, which may result in contractures, scoliosis, respiratory and swallowing difficulties, and foot deformities. |
| Microphthalmia | |
| Hereditary spastic paraplegia | A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs. |
| Congenital disorder of glycosylation | A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids. |
| Brain disease | |
| Fanconi anemia | |
| Anemia | A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin. |
| Lysosomal storage disease | An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. |
| Neuronal ceroid lipofuscinosis | Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina. |
| Lissencephaly | A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation. |
| Normocytic anemia | |
| Diabetes mellitus | A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.|A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE. |
| Lipodystrophy | |
| Congenital nervous system abnormality | |
| Lipid storage disease | A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues. |
| Bone development disease | A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage. |
| Osteogenesis imperfecta | An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. |
| Osteochondrodysplasia | A bone development disease that results_in defective development of cartilage or bone. |
| Congenital hypoplastic anemia | |
| Aplastic anemia | An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow. |
| Ehlers-Danlos syndrome | A collagen disease and a monogenic disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. |
| Collagen disease | |
| Synucleinopathy | A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. |
| Paraplegia | |
| Retinitis pigmentosa | A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss. |
| Glucose metabolism disease | |
| Retinal degeneration | |
| Eye degenerative disease | |
| Glaucoma | An ocular disease, occurring in many forms, having as its primary characteristics an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. The consequences of the increased pressure may be manifested in a variety of symptoms, depending upon type and severity, such as excavation of the optic disk, hardness of the eyeball, corneal anesthesia, reduced visual acuity, seeing of colored halos around lights, disturbed dark adaptation, visual field defects, and headaches. (Dictionary of Visual Science, 4th ed)|Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. |
| Degeneration of macula and posterior pole | |
| hemolytic-uremic syndrome | Xref MGI. |
| Age related macular degeneration | A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision. |
| Microcephaly | OMIM mapping confirmed by DO. [SN]. |
| Macular degeneration | A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye; symptoms include vision loss. |
| Hypotrichosis | A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles. |
| Hair disease | An integumentary system disease that is located_in hair. |
| Palmoplantar keratosis | A keratosis characterized by abnormal thickening of the palms and the soles. |
| Emery-Dreifuss muscular dystrophy | A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle. |
| Klinefelter syndrome | |
| Neuromuscular junction disease | A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction. |
| Congenital myasthenic syndrome | A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic). |
| Visceral heterotaxy | A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen. |
| Leber hereditary optic neuropathy | OMIM mapping confirmed by DO. [SN]. |
| Cranial nerve disease | A neuropathy that is located_in one of the twelve cranial nerves. |
| Optic nerve disease | A cranial nerve disease that is located_in the optic nerve. |
| Amyloidosis | An acquired metabolic disease that involves abnormal deposited of amyloid proteins in organs and/or tissues. |
| cone-rod dystrophy | A retinal degeneration that is an inherited progressive disease that causes deterioration of the cone and rod photoreceptor cells and often results in blindness. |
| Hemophagocytic lymphohistiocytosis | A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages. |
| Chronic granulomatous disease | A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed. |
| Phagocyte bactericidal dysfunction | A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection. |
| Glycogen storage disease | A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. |
| Glycogen metabolism disorder | A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen. |
| Familial visceral amyloidosis | OMIM mapping confirmed by DO. [SN]. |
| Thrombophilia | OMIM mapping confirmed by DO. [LS]. |
| Blood coagulation disease | |
| Tauopathy | Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain. |
| Alzheimer's disease | A dementia that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting in late middle age and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability.|A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.|A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)|A dementia which is an incurable disease of unknown cause, starting in late middle age or in old age, that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood, that leads in advanced cases to a profound decline in cognitive and physical functioning, and that is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. |
| Cerebral degeneration | |
| Leukodystrophy | A cerebral degeneration characterized by dysfunction of the white matter of the brain. |
| Nemaline myopathy | A congenital structural myopathy characterized by generally non-progressive muscle weakness of varying severity; certain muscle fibers show the presence of rod-like structures called nemaline bodies. |
| Congenital myopathy | |
| Bone marrow disease | |
| Primary polycythemia | |
| Polycythemia | Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume. |
| Cataract | Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)|Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)|Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed) |
| Chondrodysplasia punctata | |
| Rhizomelic chondrodysplasia punctata | A genetic disease that is characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congential cataracts and has_material_basis_in mutations of the alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) gene. |
| Lens disease | |
| Obesity | An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher.|A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY). |
| Primary ciliary dyskinesia | An autosomal recessive genetic disease that causes a defect in the action of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube. |
| Ciliopathy | Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms. |
| Aortic disease | An artery disease that is characterized by degeneration of the cells composing the aortic wall. |
| Aortic aneurysm | An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size. |
| Artery disease | A vascular disease that is located_in an artery. |
| Dystonia | |
| Movement disease | |
| Respiratory system disease | A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm. |
| Bronchial disease | A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage. |
| Lower respiratory tract disease | A respiratory system disease which involves the lower respiratory tract. |
| Pure red-cell aplasia | |
| Diamond-Blackfan anemia | A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis insufficient levels of red blood cells due to bone marrow dysfunction. |
| Asthma | A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways.|Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory.|A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL).|A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, excercise, stress, reflux disease, medications, foods and emotional anxiety. |
| Congenital dyserythropoietic anemia | A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. |
| Long QT syndrome | An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles). |
| Intrinsic cardiomyopathy | A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause. |
| Congenital hemolytic anemia | |
| Hemolytic anemia | A type of anemia caused by premature destruction of red blood cells (hemolysis). |
| Stickler syndrome | OMIM mapping confirmed by DO. [SN]. |
| Severe combined immunodeficiency | A combined T cell and B cell immunodeficiency that is caused by a defect in several genes encoding for B and T lymphocytes resulting in individuals with non-functional immune systems. |
| Combined immunodeficiency | |
| Peroxisomal biogenesis disorder | |
| Congenital generalized lipodystrophy | OMIM mapping confirmed by DO. [SN]. |
| Zellweger syndrome | A peroxisomal disease that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes. |
| Gangliosidosis | |
| Sphingolipidosis | |
| Heart conduction disease | A cardiovascular system disease that involves the heart's electrical conduction system. |
| Atrial fibrillation | A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain. |
| Familial atrial fibrillation | An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes. |
| Thyroid gland disease | An endocrine system disease that is located_in the thyroid. |
| Endocrine system disease | A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. |
| Hypothyroidism | A deficiency of thyroid hormone. |
| Congenital hypothyroidism | A hypothyroidism that is present at birth. |
| Huntington's disease | A neurodegenerative disease and an autosomal dominant disease that is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities. |
| Amino acid metabolic disorder | An inherited metabolic disorders which impair the synthesis and degradation of amino acids. |
| Lynch syndrome | |
| Primary ovarian insufficiency | |
| Cockayne syndrome | An autosomal recessive disease that is caused by rare mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. |
| Female reproductive system disease | A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes. |
| Gonadal disease | An endocrine system disease that is located_in the gonads. |
| Reproductive system disease | A disease of anatomical entity that is located_in reproductive system organs. |
| Ovarian disease | |
| Biliary tract disease | |
| Bile duct disease | |
| Hepatobiliary disease | A gastrointestinal system disease that is located_in the liver and/or biliary tract. |
| Intrahepatic cholestasis | Xref MGI. |
| Cholestasis | |
| Kallmann syndrome | OMIM mapping confirmed by DO. [SN]. |
| Hypogonadism | A gonadal disease that is characterized by diminished functional activity of the gonads. |
| Hypogonadotropic hypogonadism | |
| Dyskeratosis congenita | A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer. |
| Digenic disease | |
| Polygenic disease | |
| Mitochondrial myopathy | A myopathy that is characterized by mitochondrial dysfunction. |
| Chronic progressive external ophthalmoplegia | |
| Thyroid gland medullary carcinoma | |
| Thyroid gland carcinoma | |
| Thyroid cancer | An endocrine gland cancer located_in the thryoid gland located in the neck below the thyroid cartilage. |
| Endocrine gland cancer | An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system. |
| Synostosis | A dysostosis that results_in abnormal fusing of adjacent bones. |
| Dysostosis | A bone development disease that results_in defective ossification of located_in bone. |
| Cerebellar disease | |
| Autosomal dominant cerebellar ataxia | |
| Hereditary ataxia | |
| Cerebellar ataxia | A cerebellar disease characterized by ataxia originating in the cerebellum. |
| Craniosynostosis | A synostosis that results_in premature fusion located_in skull. |
| Prion disease | A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83) |
| Creutzfeldt-Jakob disease | OMIM mapping confirmed by DO. [SN]. |
| Lipid metabolism disorder | An inherited metabolic disorder that involves the creation and degradation of lipids. |
| Arteriosclerosis | An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries. |
| Arteriosclerotic cardiovascular disease | |
| Atherosclerosis | A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA. |
| Familial hyperlipidemia | |
| Pseudohermaphroditism | |
| Disorder of sexual development | |
| Renal tubular transport disease | |
| Bartter disease | |
| Xeroderma pigmentosum | An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair. |
| ITM2B-related cerebral amyloid angiopathy 1 | |
| ITM2B-related cerebral amyloid angiopathy 2 | |
| Type 2 diabetes mellitus | A diabetes mellitus that involves high blood glucose resulting from cells fail to use insulin properly. |
| Cerebral amyloid angiopathy | An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia. |
| Primary cutaneous amyloidosis | An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis. |
| Finnish type amyloidosis | OMIM mapping confirmed by DO. [SN]. |
| Senior-Loken syndrome | An autosomal recessive genetic disease characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. |
| Mitochondrial metabolism disease | An inherited metabolic disorder that involves mitochondrial metabolism dysfunction. |
| cytochrome-c oxidase deficiency disease | OMIM mapping confirmed by DO. [SN]. |
| Leigh disease | A mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity. |
| Dental enamel hypoplasia | |
| Bone remodeling disease | A bone disease that results_in formation or resorption abnormalities located_in bone. |
| Exostosis | A hyperostosis that involves formation of new bone on the surface of preexisting bone. |
| Hyperostosis | A bone remodeling disease that results in an abnormal growth of located_in bone. |
| Hereditary multiple exostoses | An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results_in multiple bony spurs throughout a child's growth. |
| Amelogenesis imperfecta | A dental enamel hypoplasia characterized by abnormal enamel formation. |
| Teeth hard tissue disease | |
| Tooth disease | |
| Mouth disease | A gastrointestinal system disease that is located_in the mouth. |
| Hypotrichosis 2 | |
| Night blindness | |
| Hereditary night blindness | OMIM mapping confirmed by DO. [SN]. |
| Congenital stationary night blindness | A night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves. |
| Holoprosencephaly | A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies. |
| Maple syrup urine disease | An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures. |
| Organic acidemia | An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids. |
| Aicardi-Goutieres syndrome | An autosomal recessive disease that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections. |
| Hereditary elliptocytosis | A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present. |
| Alport syndrome | A monogenic disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss. |
| Male reproductive system disease | A reproductive system disease that affects male reproductive organs. |
| Gout | Hereditary metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of uric acid calculi. |
| DOID:12252 | |
| Mucopolysaccharidosis | A lysosomal storage disease that involves he accumulation of glycosaminoglycans in the tissues and their excretion in the urine. |
| Corneal disease | |
| Gelatinous drop-like corneal dystrophy | Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment. |
| epithelial-stromal TGFBI dystrophy | |
| Epithelial and subepithelial dystrophy | |
| Corneal dystrophy | |
| Lattice corneal dystrophy | |
| Bullous skin disease | An autoimmune disease of skin and connective tissue that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested. |
| Vesiculobullous skin disease | |
| Epidermolysis bullosa | |
| Dermatitis | A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin. |
| Brugada syndrome | A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. |
| Bernard-Soulier syndrome | OMIM mapping confirmed by DO. [SN]. |
| Adenoma | A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract.|A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract. |
| Pituitary gland benign neoplasm | |
| Functioning pituitary adenoma | |
| Prolactinoma | OMIM mapping confirmed by DO. [SN]. |
| Pituitary gland disease | An endocrine system disease that is located_in the pituitary gland. |
| Pituitary adenoma | |
| Endocrine organ benign neoplasm | An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. |
| Mucolipidosis | A lysosomal storage disease that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). |
| Hermansky-Pudlak syndrome | An autosomal recessive disease characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. |
| Glycoproteinosis | |
| Usher syndrome | A syndrome characterized by a combination of hearing loss and visual impairment. |
| LADD syndrome | An autosomal dominant disease that is characterized by abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes. |
| Lacrimoauriculodentodigital syndrome 1 | |
| Niemann-Pick disease | OMIM mapping confirmed by DO. [SN]. |
| Cognitive disorder | A disease of mental health that affects cognitive functions including memory processing, perception and problem solving. |
| Dementia | An acquired organic mental disorder with loss of intellectual abilities of sufficient severity to interfere with social or occupational functioning. The dysfunction is multifaceted and involves memory, behavior, personality, judgment, attention, spatial relations, language, abstract thought, and other executive functions. The intellectual decline is usually progressive, and initially spares the level of consciousness. |
| Pick's disease | OMIM mapping confirmed by DO. [SN]. |
| Disease of mental health | A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture. |
| Williams-Beuren syndrome | OMIM mapping confirmed by DO. [LS]. |
| Chromosomal deletion syndrome | |
| Frontotemporal dementia | A basal ganglia disease characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language. |
| Atrial heart septal defect | Xref MGI. |
| Congenital heart disease | OMIM mapping confirmed by DO. [SN]. |
| Heart septal defect | |
| Phenylketonuria | An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. |
| APP-related cerebral amyloid angiopathy | |
| Osteosclerosis | A bone remodeling disease that results_in abnormal elevated bone density or mass. |
| Osteopetrosis | An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones. |
| Li-Fraumeni syndrome | An autosomal dominant disease characterized by increases risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata. |
| Bronchiectasis | A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances. |
| Familial Mediterranean fever | A hypersensitivity reaction type II disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; caused by mutations in the MEFV gene, which encodes the protein pyrin. |
| Kidney cancer | A urinary system cancer that is located_in the kidney. |
| Cystic fibrosis | An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs. |
| Behcet's disease | A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis. |
| Urinary system cancer | An organ system cancer that is located_in the kidneys, ureteres, bladder or urethra. |
| Renal carcinoma | A kidney cancer that derives_from the lining of the proximal convoluted tubule (the very small tubes in the kidney that filter the blood and remove waste products). |
| Renal cell carcinoma | A carcinoma arising from the renal parenchyma. The incidence of renal cell carcinoma has increased by 35% from 1973 to 1991. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Diagnostic procedures include: ultra sound, intravenous pyelography and computed tomography (CT). Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy.|A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma. |
| CINCA Syndrome | Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs. |
| Autoimmune disease of cardiovascular system | A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system. |
| DOID:0050747 | |
| Diabetes insipidus | |
| Lewy body dementia | A dementia and a synucleinopathy that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities. |
| Metachromatic leukodystrophy | A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system. |
| Gaucher's disease | A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver. |
| Autoimmune disease of central nervous system | An autoimmune disease of the central nervous system. |
| Autoimmune disease of the nervous system | |
| CST3-related cerebral amyloid angiopathy | |
| Connective tissue benign neoplasm | A musculoskeletal system benign neoplasm that is located_in connective tissue. |
| Musculoskeletal system benign neoplasm | An organ system benign neoplasm that is located_in the muscular and skeletal organs. |
| Bone benign neoplasm | A connective tissue benign neoplasm that is located_in bone. |
| Fatal familial insomnia | OMIM mapping confirmed by DO. [SN]. |
| Gerstmann-Straussler-Scheinker syndrome | A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain. |
| Kuru | |
| Granular corneal dystrophy | |
| Granular corneal dystrophy 2 | |
| Transthyretin amyloidosis | An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene. |
| Waardenburg syndrome | |
| Ureteral disease | A urinary system disease that is located_in the ureter. |
| Bladder disease | A urinary system disease that is located_in the bladder. |
| Cystinuria | An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder. |
| Breast disease | A thoracic disease that is located_in the breast. |
| Coloboma | An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc. |
| Gastrointestinal system cancer | An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system. |
| Cowden syndrome | |
| Adenocarcinoma | A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures.|A malignant epithelial tumor with a glandular organization. |
| Lung disease | A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide. |
| Childhood electroclinical syndrome | An electroclinical syndrome with onset in childhood between one and 12 years of age. |
| Electroclinical syndrome | An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. |
| Neuronal ceroid lipofuscinosis 6A | |
| adolescence-adult electroclinical syndrome | An electroclinical syndrome with onset in adolescence and adulthood. |
| 46,XX sex reversal | |
| Lissencephaly 3 | |
| Childhood absence epilepsy | A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years. |
| Crouzon syndrome | A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene. |
| Absence epilepsy | |
| Gonadal dysgenesis | A hypogonadism that is characterized by a progressive loss of germ cells on the developing gonads of an embryo. |
| Steatotic liver disease | |
| Oculocutaneous albinism | An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes. |
| PTEN hamartoma tumor syndrome | mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS. |
| Atypical hemolytic-uremic syndrome | |
| Focal epilepsy | An epilepsy syndrome that is characterised by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response. |
| substance-related disorder | A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning. |
| Spinocerebellar ataxia with axonal neuropathy 2 | |
| Reproductive organ cancer | An organ system cancer that is manifested in the reproductive organs. |
| Autosomal recessive cerebellar ataxia | |
| Thoracic cancer | An organ system cancer located_in the thoracic cavity that develops in the different types of cells within the lungs, as well as less common cancers of the esophagus, the trachea, or the chest wall. |
| Substance abuse | A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning. |
| CHARGE syndrome | A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. |
| Developmental disorder of mental health | A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development. |
| Autoimmune disease of blood | A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood. |
| Alcohol use disorder | |
| Pachyonychia congenita | OMIM mapping confirmed by DO. [SN]. |
| Granulomatosis with polyangiitis | |
| Cholangiocarcinoma | |
| Bile duct cancer | A biliary tract cancer that is located_in the bile duct. |
| Familial temporal lobe epilepsy 1 | |
| 46,XY sex reversal | |
| CAKUT | |
| Juvenile myoclonic epilepsy | A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years. |
| Male reproductive organ cancer | A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum. |
| Juvenile rheumatoid arthritis | A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint. |
| Hepatobiliary system cancer | |
| Pervasive developmental disorder | A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors. |
| Congenital merosin-deficient muscular dystrophy 1A | |
| Bile duct adenocarcinoma | A bile duct carcinoma that derives_from epithelial cells of glandular origin. |
| Biliary tract cancer | A gastrointestinal system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct. |
| Bile duct carcinoma | A bile duct cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| Autism spectrum disorder | A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior. |
| Prostate disease | |
| Spondyloepiphyseal dysplasia | |
| Mandibulofacial dysostosis, Guion-Almeida type | |
| Spondyloepiphyseal dysplasia tarda | |
| Acute myeloid leukemia | Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES. |
| Townes-Brocks syndrome | An autosomal dominant disease that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. |
| Beare-Stevenson cutis gyrata syndrome | OMIM mapping confirmed by DO. [SN]. |
| X-linked spondyloepiphyseal dysplasia tarda | |
| Sarcoma | A usually aggressive malignant mesenchymal cell tumor most commonly arising from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the tumor. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma.|A malignant mesenchymal neoplasm arising exclusively from the soft tissues. Representative examples include soft tissue sarcoma, extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumor, and malignant hemangiopericytoma.|Neoplasms developing from some structure of the connective and subcutaneous tissue. The concept does not refer to neoplasms located in connective or soft tissue.|A cancer that affects connective tissue resulting in mesoderm proliferation.|A malignant mesenchymal neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones.|Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue. |
| Musculoskeletal system cancer | An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs. |
| Chromosome 15q24 deletion syndrome | |
| X-linked dominant disease | |
| Danon disease | OMIM mapping confirmed by DO. [SN]. |
| Distal arthrogryposis | A muscle tissue disease characterized by congenital joint contractures of hand and feet. |
| Ichthyosis | An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. |
| Thoracic disease | A disease of anatomical entity that is located_in the thoracic cavity. |
| Prader-Willi syndrome | OMIM mapping confirmed by DO. [SN]. |
| Leukemia | A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.|A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)|A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years. |
| Perrault syndrome | |
| Connective tissue cancer | A musculoskeletal system cancer that is located_in connective tissue. |
| Ewing sarcoma | A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms. -- 2004|A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing's sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms.|A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones. There are conspicuous foci of necrosis in association with irregular masses of small, regular, rounded or ovoid cells with very scanty cytoplasm. The tumor occurs usually before the age of 20, about twice as frequently in males as in females. (From Dorland, 27th ed; Stedman, 25th ed)|A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms. |
| Hereditary spastic paraplegia 31 | |
| Autosomal dominant distal hereditary motor neuronopathy | |
| Spinal muscular atrophy | A motor neuron disease that is a degenerative neuromuscular disease characterized by motor neuron degeration. |
| Autosomal dominant distal hereditary motor neuronopathy 5 | |
| Mitochondrial DNA depletion syndrome 4b | |
| Breast cancer | A thoracic cancer that originates in the mammary gland. |
| Alpers-Huttenlocher syndrome | |
| Mitochondrial DNA depletion syndrome | |
| Angelman syndrome | OMIM mapping confirmed by DO. [SN]. |
| Myeloid leukemia | A leukemia that is located_in myeloid tissue. |
| Pfeiffer syndrome | An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. |
| Temporal lobe epilepsy | |
| Acute promyelocytic leukemia | An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate. It is characterized by the t(15;17)(q22;q12) translocation. There are two variants: the typical and micro granular (hypo granular) variant. This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis. (WHO, 2001) -- 2003|An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate. It is characterized by the t(15;17)(q22;q12) translocation. There are two variants: the typical and microgranular variant. This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis. (WHO, 2001) |
| SATB2-associated syndrome | |
| Campomelic dysplasia | An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur. |
| Jackson-Weiss syndrome | |
| Prostate cancer | A male reproductive organ cancer that is located_in the prostate. |
| Citrullinemia | An urea cycle disorder that involves the accumulation of ammonia in the blood. |
| Metabolic dysfunction-associated steatotic liver disease | |
| Liver disease | Any disease or dysfunction of the liver and the intrahepatic bile ducts.|Pathological processes of the LIVER. |
| Distal arthrogryposis type 1 | |
| Chromosome 15q13.3 microdeletion syndrome | |
| Epidermal nevus | Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood. |
| Urea cycle disorder | An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. |
| Hypertension | Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more. |
| Epidermolytic hyperkeratosis | OMIM mapping confirmed by DO. [SN]. |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | |
| Acrocephalosyndactylia | A synostosis that results_in craniosynostosis and syndactyly. |
| Gestational diabetes | |
| Mitochondrial complex I deficiency | |
| Color blindness | A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions. |
| Head and neck squamous cell carcinoma | A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands.|A carcinoma of any tissue within the head and neck region. |
| Idiopathic generalized epilepsy | An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain. |
| Meesmann corneal dystrophy | Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision. |
| Bone marrow cancer | A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow. |
| Generalized epilepsy with febrile seizures plus | An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset. |
| Progressive familial heart block | |
| Leukocyte disease | |
| Multiple myeloma | A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)|A myeloma that is located_in the plasma cells in bone marrow.|A malignancy of mature PLASMA CELLS engaging in monoclonal immunoglobulin production. It is characterized by hyperglobulinemia, excess Bence-Jones proteins (free monoclonal IMMUNOGLOBULIN LIGHT CHAINS) in the urine, skeletal destruction, bone pain, and fractures. Other features include ANEMIA; HYPERCALCEMIA; and RENAL INSUFFICIENCY. |
| Spondyloepimetaphyseal dysplasia | An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis. |
| Joubert syndrome | An autosomal recessive disease that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones resulting from dysfunction of ciliary proteins (ciliopathy). |
| Interstitial lung disease 1 | |
| Interstitial lung disease | |
| Meckel syndrome | An autosomal recessive disease that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia caused by dysfunction of primary cilia (ciliopathy) during early embryogenesis. |
| Microcytic anemia | OMIM mapping confirmed by DO. [SN]. |
| Autoimmune disease of skin and connective tissue | A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue. |
| Sideroblastic anemia | An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). |
| Stevens-Johnson syndrome | |
| Alopecia areata | A hypersensitivity reaction type II disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots. |
| Metatropic dysplasia | Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood. |
| Mitochondrial DNA depletion syndrome 8a | |
| Metal metabolism disorder | An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. |
| White sponge nevus | |
| Psychotic disorder | A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality. |
| Schizophrenia | A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.|A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior. |
| Squamous cell carcinoma | A carcinoma that derives_from squamous epithelial cells. |
| Head and neck carcinoma | |
| Head and neck cancer | An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx. |
| Urinary bladder cancer | An urinary system cancer that results_in malignant growth located_in the urinary bladder. |
| Myeloid neoplasm | |
| Pontocerebellar hypoplasia | |
| Chromosome 19p13.13 deletion syndrome | |
| Sturge-Weber syndrome | Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies. |
| Fibrodysplasia ossificans progressiva | .A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene. |
| Aromatic L-amino acid decarboxylase deficiency | |
| Alpha thalassemia | Alpha thalassemia is a thalassemia involving the genes HBA1and HBA2 hemoglobin genes. |
| Thalassemia | OMIM mapping confirmed by DO. [LS]. |
| MHC class I deficiency | OMIM mapping confirmed by DO. [SN]. |
| Hyperlysinemia | An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood. |
| Sleep disorder | A disease of mental health that involves disruption of sleep patterns. |
| Potocki-Shaffer syndrome | |
| Narcolepsy | A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work. |
| Autoimmune disease of peripheral nervous system | An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system. |
| Guillain-Barre syndrome | An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system. |
| Leprosy | A chronic granulomatous infection caused by MYCOBACTERIUM LEPRAE. The granulomatous lesions are manifested in the skin, the mucous membranes, and the peripheral nerves. Two polar or principal types are lepromatous and tuberculoid. |
| short-rib thoracic dysplasia 9 with or without polydactyly | |
| Shwachman-Diamond syndrome | Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation. |
| RASopathy | |
| Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | |
| Noonan syndrome | OMIM mapping confirmed by DO. [SN]. |
| Primary bacterial infectious disease | A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread. |
| Asphyxiating thoracic dystrophy | OMIM mapping confirmed by DO. [SN]. |
| Mucopolysaccharidosis I | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase. |
| Guanidinoacetate methyltransferase deficiency | |
| Right atrial isomerism | Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest. |
| Cerebral creatine deficiency syndrome | |
| Gordon Holmes syndrome | |
| Pigmentation disease | |
| Boucher-Neuhauser syndrome | |
| Dowling-Degos disease | A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. |
| Vitelliform macular dystrophy | A macular degeneration that can cause progressive vision loss, it is characterized by the disruption of cells in a small area near the center of the retina, the macula. |
| Dilated cardiomyopathy | An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently.|A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein.|decreased function of the heart associated with cardiac enlargement and congestive heart failure |
| Autosomal recessive congenital ichthyosis | |
| Hereditary spastic paraplegia 15 | |
| Wilson disease | OMIM mapping confirmed by DO. [SN]. |
| Opiate dependence | A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance. |
| Substance dependence | A substance-related disorder that involves the continued use of alcohol or other drugs despite despite problems related to use of the substance. |
| Drug dependence | Disorders related to substance abuse, the side effects of a medication, or toxin exposure. |
| Blindness | |
| Osteoglophonic dysplasia | |
| Fundus dystrophy | |
| Epidermolysis bullosa simplex | |
| Hereditary retinal dystrophy | |
| Osteoarthritis | A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans. |
| Complement deficiency | A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation. |
| Myofibrillar myopathy | Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins. |
| Autosomal dominant vitreoretinochoroidopathy | |
| Costello syndrome | OMIM mapping confirmed by DO. [SN]. |
| Adams-Oliver syndrome | A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs. |
| Left ventricular noncompaction | |
| Sotos syndrome | An autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life. |
| Focal dystonia | A dystonia that is localized to a specific part of the body. |
| Homocystinuria | An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. |
| Severe congenital encephalopathy due to MECP2 mutation | |
| Intellectual disability | A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills. |
| Rett syndrome | A pervasive developmental disease that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities. |
| X-linked dystonia-parkinsonism | |
| Core binding factor acute myeloid leukemia | |
| Paramyotonia congenita of Von Eulenburg | |
| Familial periodic paralysis | |
| Herpes zoster | A viral infectious disease that results_in infection located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The virus is transmitted_by direct contact with the rash, which can develop into chickenpox in newly-infected individuals. The infection has_symptom rash which is followed by blisters, has_symptom headache, has_symptom fever, has_symptom malaise, has_symptom itching, has_symptom burning pain, and has_symptom paresthesia. |
| Hyperkalemic periodic paralysis | OMIM mapping confirmed by DO. [SN]. |
| Hypokalemic periodic paralysis | OMIM mapping confirmed by DO. [SN]. |
| Crohn's disease | An intestinal disease that involves inflammation located_in intestine. |
| Mal de Meleda | |
| Porphyria | An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. |
| Carbamoyl phosphate synthetase I deficiency disease | An amino acid metabolic disorder that involves accumulation of ammonia in the blood. |
| Achromatopsia | A color blindness that is characterized by a congenital color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance. |
| Systemic primary carnitine deficiency disease | An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy. |
| Viral infectious disease | A disease by infectious agent that results_in infection, has_material_basis_in Viruses. |
| Psoriatic arthritis | A syndrome that occurs in humans with psoriasis who also experience symptoms similar to arthritis. |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | |
| McKusick-Kaufman syndrome | |
| Carpenter syndrome | An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. |
| Noonan syndrome with multiple lentigines | |
| alpha-mannosidosis | A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome. |
| Congestive heart failure | Heart failure caused by dysfunction of the MYOCARDIUM, leading to defective cardiac emptying (contraction) or filling (relaxation).|Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales.|Heart failure involving the LEFT VENTRICLE.|Heart failure involving the RIGHT VENTRICLE.|A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION.|1. inadequacy of the heart so that as a pump it fails to maintain the circulation of blood, with the result that congestion and edema develop in the tissues; SEE ALSO forward heart failure, backward heart failure, right ventricular failure, left ventricular failure. SYN cardiac failure, cardiac insufficiency, congestive heart failure, myocardial insufficiency. 2. resulting clinical syndromes including shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales in various combinations.|Heart failure accompanied by EDEMA, such as swelling of the legs and ankles and congestion in the lungs. |
| Cor pulmonale | A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs. |
| Primary pulmonary hypertension | A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling. |
| Specific developmental disorder | A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. |
| Syndromic X-linked intellectual disability | |
| Syndromic X-linked intellectual disability Lubs type | |
| Gitelman syndrome | OMIM mapping confirmed by DO. [SN]. |
| Syndromic intellectual disability | An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms. |
| Chronic pulmonary heart disease | |
| Fundus albipunctatus | A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. |
| Melanoma | A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445)|A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. |
| Adrenal gland disease | An endocrine system disease that is located_in the adrenal gland. |
| Lennox-Gastaut syndrome | |
| Complement factor I deficiency | OMIM mapping confirmed by DO. [SN]. |
| Mucopolysaccharidosis III | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. |
| Primary hyperaldosteronism | |
| Mayer-Rokitansky-Kuster-Hauser syndrome | |
| Spondylocostal dysostosis | A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together. |
| Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 | |
| Myeloid and lymphoid neoplasms associated with PDGFRA rearrangement | |
| Warfarin sensitivity | |
| Warfarin resistance | |
| Desmoid tumor | |
| ACTH-independent macronodular adrenal hyperplasia | ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS; see this term) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS (see this term). |
| Adrenal gland hyperfunction | |
| Gastrointestinal stromal tumor | OMIM mapping confirmed by DO. [SN]. |
| Familial adenomatous polyposis | An autosomal dominant disease that is caused by mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer. |
| Nephrolithiasis | Formation of stones in the KIDNEY. |
| Arrhythmogenic right ventricular cardiomyopathy | An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle. |
| Xanthomatosis | A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts. |
| Cerebrotendinous xanthomatosis | A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma. |
| Ovarian dysfunction | |
| Polycystic ovary syndrome | A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading. |
| Isolated sulfite oxidase deficiency | |
| Keratoconus | A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape. |
| Hypohidrotic ectodermal dysplasia | A monogenic disease that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). |
| Ectodermal dysplasia | Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. |
| Lung cancer | A respiratory system cancer that is located_in the lung. |
| Respiratory system cancer | An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract. |
| Chromosome 1q21.1 deletion syndrome | |
| Pheochromocytoma | Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines. |
| Paraganglioma | Xref MGI. |
| Cerebral folate receptor alpha deficiency | |
| Vitamin metabolic disorder | An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism. |
| Patent ductus arteriosus | OMIM mapping confirmed by DO. [SN]. |
| Char syndrome | |
| Fuchs' endothelial dystrophy | A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision. |
| Acrocallosal syndrome | A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation. |
| Hepatic venoocclusive disease with immunodeficiency | |
| Corneal endothelial dystrophy | |
| Cerebrovascular disease | An artery disease that is characterized by dysfunction of the blood vessels supplying the brain. |
| Cerebral cavernous malformation | |
| Hennekam syndrome | |
| Simpson-Golabi-Behmel syndrome type 1 | |
| contractures, pterygia, and spondylocarpotarsal fusion syndrome | |
| Protein S deficiency | |
| Edwards syndrome | OMIM mapping confirmed by DO. [LS]. |
| Chromosome 18q deletion syndrome | |
| gamma-amino butyric acid metabolism disorder | An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway. |
| GABA aminotransferase deficiency | A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. |
| Cardiovascular organ benign neoplasm | An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system. |
| Aromatase excess syndrome | |
| Von Hippel-Lindau disease | OMIM mapping confirmed by DO. [LS]. |
| Sialuria | A lysosomal storage disease characterized by increased sialic acid in the urine. |
| GNE myopathy | |
| Contact dermatitis | |
| Allergic disease | disease cluster belonging to disease group immune |
| Omenn syndrome | A combined T cell and B cell immunodeficiency that is an autosomal recessive immunodeficiency associated with mutations in the recombination activating genes (RAG1 and RAG2), affecting circulating levels of both B-cells and T-cells. |
| Allergic contact dermatitis | A contact dermititis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign. |
| Molybdenum cofactor deficiency | Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase. |
| Atopic dermatitis | A dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking. |
| AGAT deficiency | An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis. |
| dentatorubral-pallidoluysian atrophy | A spinocerebellar degeneration that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein. |
| Pallister-Hall syndrome | OMIM mapping confirmed by DO. [SN]. |
| Greig cephalopolysyndactyly syndrome | An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face. |
| Trichorhinophalangeal syndrome type II | An exostosis that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose. |
| Trichorhinophalangeal syndrome type I | An autosomal dominant disease that is characterized by thin, sparse scalp hair, unusual facial features, abnormalities of the fingers and/or toes, and multiple abnormalities of the growing ends (epiphyses) of the bones (skeletal dysplasia), especially in the hands and feet. |
| Thoracic aortic aneurysm | An aortic aneurysm that is located_in the thoracic aorta. |
| Intestinal pseudo-obstruction | |
| megacystis-microcolon-intestinal hypoperistalsis syndrome | Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis. |
| Schindler disease | |
| Hemangioma | A cell type benign neoplasm that has_physical_basis_in endothelial cells that line blood vessels and is characterised by increased number of normal or abnormal vessels filled with blood. |
| Hemangioblastoma | |
| Alagille syndrome | A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts. |
| Hajdu-Cheney syndrome | OMIM mapping confirmed by DO. [SN]. |
| Griscelli syndrome | |
| Pyruvate decarboxylase deficiency | A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex. |
| Hereditary hemorrhagic telangiectasia | An autosomal dominant disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins. |
| Benign neonatal seizures | A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion. |
| Neonatal period electroclinical syndrome | An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age. |
| Partial lipodystrophy | |
| Familial partial lipodystrophy | A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. |
| Familial isolated deficiency of vitamin E | |
| Nervous system cancer | An organ system cancer located_in the nervous sytem that affects the central or peripheral nervous system. |
| Autonomic nervous system neoplasm | A peripheral nervous system neoplasm that is located_in the autonomic nervous system. |
| Peripheral nervous system neoplasm | A nervous system cancer that is located_in the peripheral nervous system. |
| Neuroblastoma | A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation.|A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51)|A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome (MeSH). |
| Congenital structural myopathy | |
| Centronuclear myopathy | A myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery. |
| Charlevoix-Saguenay spastic ataxia | |
| 3-methylglutaconic aciduria type 5 | |
| 3-methylglutaconic aciduria | |
| Episodic ataxia | A neuromuscular disease characterized by sporadic bouts of ataxia with or without continuous muscle movement. |
| Episodic kinesigenic dyskinesia 1 | |
| alpha-methylacyl-CoA racemase deficiency | |
| Nicolaides-Baraitser syndrome | |
| Wolf-Hirschhorn syndrome | OMIM mapping confirmed by DO. [LS]. |
| Palmoplantar keratoderma-deafness syndrome | |
| Vohwinkel syndrome | |
| Bart-Pumphrey syndrome | OMIM mapping confirmed by DO. [SN]. |
| Female reproductive organ cancer | A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva. |
| Ovarian cancer | A female reproductive organ cancer that is located_in the ovary. |
| Carney complex | An autosomal dominant disease characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. |
| Calcinosis | A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue. |
| Calcium metabolism disease | |
| Hyperphosphatemic familial tumoral calcinosis | |
| Mineral metabolism disease | An acquired metabolic disease that is characterized by abnormal mineral metabolism. |
| Systemic scleroderma | A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.|A chronic multi-system disorder of CONNECTIVE TISSUE. It is characterized by SCLEROSIS in the SKIN, the LUNGS, the HEART, the GASTROINTESTINAL TRACT, the KIDNEYS, and the MUSCULOSKELETAL SYSTEM. Other important features include diseased small BLOOD VESSELS and AUTOANTIBODIES. The disorder is named for its most prominent feature (hard skin), and classified into subsets by the extent of skin thickening: LIMITED SCLERODERMA and DIFFUSE SCLERODERMA. |
| Scleroderma | A rheumatic disease and collagen disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs. |
| maturity-onset diabetes of the young | A genetic disease that has_material_basis_in mutations in the MODY genes disrupting insulin production. |
| Jacobsen Syndrome | Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. |
| Rheumatic disease | |
| Glucosephosphate dehydrogenase deficiency | A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH). |
| Dopamine beta-hydroxylase deficiency | |
| Junctional epidermolysis bullosa | Xref MGI. |
| Paget's disease of bone | A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs. |
| Polymicrogyria | A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain. |
| Lissencephaly 1 | |
| Ocular motility disease | |
| Congenital fibrosis of the extraocular muscles | |
| Chediak-Higashi syndrome | OMIM mapping confirmed by DO. [SN]. |
| Trichothiodystrophy | |
| cold-induced sweating syndrome | An autosomal dominant disease characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body; caused_by mutations in the CRLF1 gene. |
| Mastocytosis | OMIM mapping confirmed by DO. [LS]. |
| Systemic mastocytosis | |
| Neurodegeneration with brain iron accumulation 4 | |
| Neurodegeneration with brain iron accumulation | |
| craniofacial-deafness-hand syndrome | |
| Autonomic nervous system disease | |
| Paroxysmal extreme pain disorder | |
| Marsili syndrome | |
| Hereditary sensory and autonomic neuropathy type 2 | |
| Erythromelalgia | |
| speech-language disorder-1 | |
| Sick sinus syndrome | Xref MGI. |
| Communication disorder | A specific developmental disorder that involves specific developmental disorders of speech and language. |
| Hereditary sensory neuropathy | |
| Speech disorder | A communication disorder that involves difficulty with the act of speech production. |
| Strabismus | |
| Duane retraction syndrome | OMIM mapping confirmed by DO. [SN]. |
| Refractive error | |
| Hyperopia | |
| Miyoshi muscular dystrophy | |
| Alexander disease | A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes. |
| Cutis laxa | A skin disease characterized by skin that is loose, hanging, wrinkled and lacking in elasticity; it can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines and lungs. |
| Walker-Warburg syndrome | OMIM mapping confirmed by DO. [SN]. |
| Chylomicron retention disease | Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications. |
| X-linked sideroblastic anemia with ataxia | OMIM mapping confirmed by DO. [SN]. |
| Frontal lobe epilepsy | |
| Autosomal dominant nocturnal frontal lobe epilepsy | Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that begin during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief. |
| Hereditary angioedema | OMIM mapping confirmed by DO. [SN]. |
| Angioedema | condition similar to urticarai but with swelling occuring in a lower layer of the dermis as well as in the subcutis |
| Tyrosinemia | An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine. |
| Anauxetic dysplasia | OMIM mapping confirmed by DO. [SN]. |
| Syndromic X-linked intellectual disability Snyder type | |
| Type 1 diabetes mellitus | A diabetes mellitus that results from the body's failure to produce insulin and has_material_basis_in autoimmune destruction of insulin-producing beta cells of the pancreas. |
| Chromosome 5q deletion syndrome | |
| Sinoatrial node disease | A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm. |
| 3-M syndrome | An autosomal recessive disease characterized by dwarfism, facial dysmorphia and skeletal abnormalities. |
| Cerebral creatine deficiency syndrome 1 | |
| Autoimmune disease of endocrine system | A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system. |
| Distal myopathy | |
| Myelofibrosis | A myeloma that is located_in the bone marrow which results_in bone marrow being replaced by fibrous (scar) tissue. |
| Ollier disease | A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet. |
| Panhypopituitarism | |
| Hypopituitarism | Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions.|A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions. |
| Maffucci syndrome | |
| Amyotrophic neuralgia | OMIM mapping confirmed by DO. [SN]. |
| Brachial plexus neuropathy | |
| Tietz syndrome | Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair. |
| Silver-Russell syndrome | OMIM mapping confirmed by DO. [LS]. |
| Brooke-Spiegler syndrome | OMIM mapping confirmed by DO. [SN]. |
| Beckwith-Wiedemann syndrome | A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations. |
| Nephroblastoma | A kidney cancer that affects the kidneys and typically located_in children. |
| Autosomal dominant intellectual developmental disorder | |
| Coffin-Siris syndrome | A genetic disease that is characterized by underdevelopment of the tips of fingers or toes, underdevelopment or abscense of finger or toe nails and developmental disability. |
| pyridoxine-dependent epilepsy | |
| Bone structure disease | A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure. |
| Ischemic bone disease | A bone disease that results_in an interruption of blood supply located_in bone. |
| Bone deterioration disease | A bone structure disease that results_in change or damage of structure located_in bone. |
| Multiple mitochondrial dysfunctions syndrome | |
| Lymphoplasmacytic lymphoma | A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells. |
| B-cell lymphoma | A non-Hodgkin lymphoma that has_material_basis_in B cells. |
| Junctional epidermolysis bullosa with pyloric atresia | |
| Congenital mirror movement disorder | |
| Methylmalonic acidemia | An organic acidemia that involves an accumulation of methylmalonic acid in the blood. |
| Ghosal hematodiaphyseal syndrome | |
| Koolen de Vries syndrome | A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_physical_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene. |
| Degenerative disc disease | A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc. |
| Osteochondritis dissecans | An ischemic bone disease that results_in necrosis located_in epiphysis. |
| Autosomal recessive distal hereditary motor neuronopathy 1 | |
| Autosomal recessive distal hereditary motor neuronopathy | |
| Pitt-Hopkins syndrome | Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing. |
| Jervell-Lange Nielsen syndrome | OMIM mapping confirmed by DO. [SN]. |
| Histiocytosis | A lymphatic system disease that is characterized by an excessive number of histiocytes. |
| Langerhans-cell histiocytosis | A histiocytosis that is characterized by clonal proliferation of Langerhans cells. |
| Holocarboxylase synthetase deficiency | A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase. |
| Multiple carboxylase deficiency | An amino acid metabolic disorder that involves failures of carboxylation enzymes. |
| Blepharocheilodontic syndrome | |
| Neonatal diabetes | |
| Subcortical band heterotopia | |
| Miller-Dieker lissencephaly syndrome | |
| Autoimmune lymphoproliferative syndrome | A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen. |
| Lysinuric protein intolerance | Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism. |
| Permanent neonatal diabetes mellitus | Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment. |
| MHC class II deficiency | OMIM mapping confirmed by DO. [SN]. |
| Fraser syndrome | |
| Cardiofaciocutaneous syndrome | A syndrome characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities; it is caused by mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes. |
| Glutamate formiminotransferase deficiency | |
| Seasonal affective disorder | A mental depression that involves presentation of depressive symptoms only during a specific season of the year. |
| Depressive disorder | |
| Mood disorder | A cognitive disorder that involves an excessive, irrational dread of everyday situations. |
| Torsion dystonia 6 | |
| Generalized dystonia | A dystonia that affects most or all of the body. |
| Primary microcephaly | |
| Primary autosomal recessive microcephaly | |
| Factor XI deficiency | OMIM mapping confirmed by DO. [SN]. |
| DiGeorge syndrome | A T cell deficiency disease that is the result of a large deletion of chromosome 22 which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production. |
| Myopia | A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness. |
| Chromosome 22q11.2 microduplication syndrome | |
| Phelan-McDermid syndrome | |
| Opitz GBBB syndrome | |
| Chronic myeloid leukemia | A myeloid leukemia that is characterized by over production of white blood cells. |
| Fibrosarcoma | |
| Dermatofibrosarcoma protuberans | A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly. |
| Periventricular nodular heterotopia | A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain. |
| Schizoaffective disorder | A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact with reality. |
| Familial glucocorticoid deficiency | |
| Cranioectodermal dysplasia | |
| Congenital diaphragmatic hernia | A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. |
| scalp-ear-nipple syndrome | |
| Sitosterolemia | |
| Multiple epiphyseal dysplasia | An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results_in irregular ossification centers of the located_in hip or located_in knee. The disease has_symptom fatigue, has_symptom joint pain. |
| Diaphragm disease | A muscular disease that is located_in the diaphragm. |
| Fabry disease | OMIM mapping confirmed by DO. [SN]. |
| Peters anomaly | A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity. |
| Uveal disease | |
| Iris disease | |
| WAGR syndrome | A chromosomal disease that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes. |
| Aniridia | OMIM mapping confirmed by DO. [SN]. |
| Meier-Gorlin syndrome | An autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia and hypoplastic patellae. |
| PHGDH deficiency | A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis. |
| Serine deficiency | An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine. |
| Pyridoxamine 5'-phosphate oxidase deficiency | |
| Kindler syndrome | Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB, see this term) and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes. |
| Hypermethioninemia | An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body. |
| Neuronal ceroid lipofuscinosis 1 | |
| Adrenoleukodystrophy | A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death. |
| Neuronal ceroid lipofuscinosis 7 | |
| Restless legs syndrome | A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them. |
| Migraine | A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing. |
| Peeling skin syndrome | NT MGI. |
| Peeling skin syndrome 2 | |
| Mowat-Wilson syndrome | Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations. |
| Migraine with aura | A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon. |
| Familial hemiplegic migraine | A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness. |
| Spinocerebellar ataxia type 6 | Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus. |
| Hereditary spastic paraplegia 35 | |
| Postaxial acrofacial dysostosis | Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia. |
| Poikiloderma with neutropenia | |
| Tuberous sclerosis | OMIM mapping confirmed by DO. [LS]. |
| Lymphangioleiomyomatosis | |
| Branchiootic syndrome | A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome. |
| Myeloproliferative neoplasm | |
| Essential thrombocythemia | |
| Developmental and epileptic encephalopathy | |
| DOORS syndrome | DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. |
| Developmental and epileptic encephalopathy 14 | |
| Glycogen storage disease VI | A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation. |
| beta-mannosidosis | A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism. |
| Hereditary spherocytosis | A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape. |
| 2-hydroxyglutaric aciduria | An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage. |
| Vitamin B12 deficiency | A vitamin metabolic disorder that results from low blood levels of vitamin B12. |
| Transcobalamin II deficiency | A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII. |
| Baraitser-Winter syndrome | |
| Axenfeld-Rieger syndrome | An autosomal dominant disease characterized by abnormalities of the front part of the eye, the anterior segment. |
| MYH-9 related disease | |
| Blood platelet disease | |
| FG syndrome | An X-linked disease characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern. |
| Progressive bulbar palsy | |
| Fazio-Londe disease | |
| Nail disease | An integumentary system disease that is located_in nail. |
| Autoimmune thyroiditis | An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues. |
| Pendred Syndrome | Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter. |
| Dandy-Walker syndrome | OMIM mapping confirmed by DO. [SN]. |
| Septooptic dysplasia | |
| Ectodermal dysplasia and immune deficiency | |
| Hypoglycemia | |
| Mitochondrial DNA depletion syndrome 5 | |
| Oculopharyngeal muscular dystrophy | OMIM mapping confirmed by DO. [SN]. |
| Clouston syndrome | OMIM mapping confirmed by DO. [SN]. |
| Beta thalassemia | A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin. |
| Sickle cell disease | disease cluster belonging to disease group other |
| Nonsyndromic congenital nail disorder 4 | |
| Nonsyndromic congenital nail disorder | |
| Hyperinsulinemic hypoglycemia | A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin. |
| Duane-radial ray syndrome | |
| Blood protein disease | |
| Combined malonic and methylmalonic acidemia | |
| Retinal vascular disease | |
| Martsolf syndrome | |
| Ulcerative colitis | A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores. |
| Colitis | Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER. |
| Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | |
| Pelizaeus-Merzbacher disease | OMIM mapping confirmed by DO. [SN]. |
| Hereditary spastic paraplegia 2 | |
| Hypomyelinating leukodystrophy | |
| Hereditary folate malabsorption | |
| Exudative vitreoretinopathy | A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina. |
| Chromosome 17q12 deletion syndrome | |
| Autoimmune disease of gastrointestinal tract | A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract. |
| Mitochondrial complex III deficiency | |
| Glycogen storage disease I | A glycogen storage disease that has_material_basis_in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. |
| Hemochromatosis | A metal metabolism disorder characterized by the accumulation of iron in various organs of the body. |
| Fukuyama congenital muscular dystrophy | OMIM mapping confirmed by DO. [SN]. |
| Congenital muscular dystrophy-dystroglycanopathy type A | |
| Muscular dystrophy-dystroglycanopathy | Xref MGI. |
| Transient myeloproliferative syndrome | |
| Stormorken syndrome | |
| dystonia, DOPA-responsive | |
| Galactosemia | A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. |
| Congenital stationary night blindness 1B | |
| Laron syndrome | OMIM mapping confirmed by DO. [SN]. |
| Alstrom syndrome | An autosomal recessive disease that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene. |
| Isolated growth hormone deficiency | |
| Graves' disease | An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland. |
| Familial focal epilepsy with variable foci | |
| Bloch-Sulzberger syndrome | OMIM mapping confirmed by DO. [SN]. |
| Pseudoachondroplasia | An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism. |
| Familial cold autoinflammatory syndrome 3 | |
| Camurati-Engelmann disease | An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone. |
| Familial cold autoinflammatory syndrome | |
| Rothmund-Thomson syndrome | OMIM mapping confirmed by DO. [SN]. |
| Rapadilino syndrome | |
| Baller-Gerold syndrome | OMIM mapping confirmed by DO. [SN]. |
| Frontonasal dysplasia | |
| Neural tube defect | |
| Parietal foramina | NT MGI. |
| Phosphorus metabolism disease | |
| Arterial calcification of infancy | A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall. |
| Hypophosphatemia | |
| Birk-Barel syndrome | OMIM mapping confirmed by DO. [SN]. |
| Congenital afibrinogenemia | OMIM mapping confirmed by DO. [SN]. |
| Neuronal ceroid lipofuscinosis 11 | |
| Renpenning syndrome | An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males. |
| Congenital myopathy 4A | |
| fructose-1,6-bisphosphatase deficiency | A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis. |
| lymphedema-distichiasis syndrome | |
| Chromosome 1p36 deletion syndrome | |
| Familial chylomicronemia syndrome | |
| Multiple sclerosis | A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring. |
| Demyelinating disease | |
| Familial lipoprotein lipase deficiency | OMIM mapping confirmed by DO. [SN]. |
| Benign recurrent intrahepatic cholestasis | |
| Intrahepatic cholestasis of pregnancy | |
| Progressive familial intrahepatic cholestasis | |
| Common variable immunodeficiency | A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM). |
| Autosomal dominant hypocalcemia | |
| Short QT syndrome | An autosomal dominant disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. |
| camptodactyly-arthropathy-coxa vara-pericarditis syndrome | |
| Restrictive cardiomyopathy | Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness. |
| Hypertrophic cardiomyopathy | A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY).|A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract. |
| Catecholaminergic polymorphic ventricular tachycardia | Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death. |
| Familial hypertrophic cardiomyopathy | |
| Multiple system atrophy | OMIM mapping confirmed by DO. [LS]. |
| Congenital bilateral absence of vas deferens | |
| Male infertility | |
| Branchiooculofacial syndrome | An autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts. |
| X-linked chondrodysplasia punctata 1 | |
| Biotinidase deficiency | A multiple carboxylase deficiency that involves a deficiency in biotinidase. |
| Ornithine carbamoyltransferase deficiency | An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase. |
| Stromal dystrophy | |
| Congenital stromal corneal dystrophy | Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss. |
| Dentinogenesis imperfecta | OMIM mapping confirmed by DO. [SN]. |
| Neuronal ceroid lipofuscinosis 5 | |
| STING-associated vasculopathy with onset in infancy | |
| Pyruvate carboxylase deficiency disease | OMIM mapping confirmed by DO. [SN]. |
| X-linked lissencephaly 2 | |
| Isovaleric acidemia | An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine. |
| Piebaldism | OMIM mapping confirmed by DO. [SN]. |
| Craniofrontonasal syndrome | OMIM mapping confirmed by DO. [SN]. |
| Autosomal dominant intellectual developmental disorder 5 | |
| Mucolipidosis III gamma | |
| Treacher Collins syndrome | OMIM mapping confirmed by DO. [SN]. |
| Norrie disease | Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders. |
| Distal arthrogryposis type 2B | |
| Nephrogenic diabetes insipidus | An impaired renal function disease characterized by a complete or partial resistance of the kidneys to vasopressin (ADH). |
| Basal ganglia disease | |
| biotin-responsive basal ganglia disease | OMIM mapping confirmed by DO. [SN]. |
| High myopia-sensorineural deafness syndrome | |
| Hair follicle neoplasm | |
| Pilomatrixoma | OMIM mapping confirmed by DO. [SN]. |
| Chanarin-Dorfman syndrome | |
| Glutathione synthetase deficiency | |
| Pseudoxanthoma elasticum | An autosomal recessive disease characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system. |
| Hereditary spastic paraplegia 7 | |
| Leukopenia | decrease in no. of leukocytes |
| Agranulocytosis | |
| Neutropenia | |
| Severe congenital neutropenia | A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections. |
| triple-A syndrome | OMIM mapping confirmed by DO. [SN]. |
| Leukoencephalopathy with vanishing white matter | |
| hand-foot-genital syndrome | Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects. |
| blepharophimosis, ptosis, and epicanthus inversus syndrome | OMIM mapping confirmed by DO. [SN]. |
| Isolated hyperchlorhidrosis | |
| Schinzel Giedion syndrome | |
| Autosomal dominant intellectual developmental disorder 29 | |
| Mosaic variegated aneuploidy syndrome | Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition. |
| Glycogen storage disease V | OMIM mapping confirmed by DO. [SN]. |
| Sideroblastic anemia 1 | |
| Dermatopathia pigmentosa reticularis | |
| Dubin-Johnson syndrome | A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile. |
| Bilirubin metabolic disorder | An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism. |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | |
| Machado-Joseph disease | A spinocerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene. |
| Schwannomatosis | |
| Glycogen storage disease VII | OMIM mapping confirmed by DO. [SN]. |
| Donnai-Barrow syndrome | Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common (see these terms). |
| Weill-Marchesani syndrome | An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. |
| Nerve compression syndrome | |
| Carpal tunnel syndrome | OMIM mapping confirmed by DO. [SN]. |
| Congenital contractural arachnodactyly | |
| Hailey-Hailey disease | OMIM mapping confirmed by DO. [SN]. |
| Primary hypoalphalipoproteinemia 1 | |
| Hypolipoproteinemia | |
| Pemphigus | |
| Multiple acyl-CoA dehydrogenase deficiency | |
| RNASET2-deficient cystic leukoencephalopathy | |
| Neuronal ceroid lipofuscinosis 10 | |
| UV-sensitive syndrome | |
| Cherubism | OMIM mapping confirmed by DO. [SN]. |
| Combined T cell and B cell immunodeficiency | A primary immunodeficiency disease that involves multiple components of the immune system, including both humoral immunity and cell-mediated immunity. |
| Immunodeficiency 23 | |
| thiamine-responsive megaloblastic anemia syndrome | Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness. |
| Friedreich ataxia | Xref MGI. |
| Loeys-Dietz syndrome | |
| Large congenital melanocytic nevus | |
| non-Langerhans-cell histiocytosis | |
| Erdheim-Chester disease | |
| Boomerang dysplasia | OMIM mapping confirmed by DO. [SN]. |
| Larsen syndrome | An autosomal dominant disease that is characterized by large-joint dislocations and characteristic craniofacial abnormalities. |
| Spondylocarpotarsal synostosis syndrome | |
| Steroid inherited metabolic disorder | A lipid metabolism disorder that involves defects in steroid metabolism. |
| Cytochrome P450 oxidoreductase deficiency | |
| Polycystic kidney disease | An autosomal dominant disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium. |
| Cystic kidney disease | |
| Protein C deficiency | |
| Andersen-Tawil syndrome | A long QY syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly. |
| Retinoblastoma | A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina. |
| Retinal cell cancer | A malignant neoplasm that derives_from the retina. |
| Mismatch repair cancer syndrome | |
| Familial hypercholesterolemia | A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. |
| Abetalipoproteinemia | A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_physical_basis_in an autosomal recessive disorder of lipid metabolism caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). |
| Hyperekplexia | |
| Sepiapterin reductase deficiency | |
| SHORT syndrome | |
| Immunodeficiency 14 | |
| Central precocious puberty | Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys). |
| Retinal cancer | |
| Prolidase deficiency | |
| Bjornstad syndrome | OMIM mapping confirmed by DO. [SN]. |
| GRACILE syndrome | GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E). |
| IMAGe syndrome | A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_physical_basis_in heterozygous mutation in the CDKN1C gene. |
| Troyer syndrome | A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. |
| Congenital disorder of glycosylation type IIm | |
| Congenital disorder of glycosylation type II | A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain. |
| Plasma protein metabolism disease | An inherited metabolic disorder that involves plasma protein metabolism malfunction. |
| Alpha 1-antitrypsin deficiency | A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. |
| Gray platelet syndrome | Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear. |
| Metaphyseal dysplasia | An osteochondrodysplasia that results_in thinning and the tendency to fracture located_in bone. |
| Glycogen storage disease IV | OMIM mapping confirmed by DO. [SN]. |
| Myotonic disease | A muscular dystrophy that is characterized by progressive muscle wasting and weakness. |
| Myotonic dystrophy type 1 | A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_physical_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region. |
| Spinocerebellar ataxia type 1 | Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. |
| 3MC syndrome | A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes. |
| D-bifunctional protein deficiency | |
| Kleefstra syndrome | Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features. |
| Autosomal dominant intellectual developmental disorder 35 | |
| Propionic acidemia | An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy. |
| Congenital bile acid synthesis defect | |
| Congenital bile acid synthesis defect 2 | |
| Saethre-Chotzen syndrome | An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull. |
| Short chain acyl-CoA dehydrogenase deficiency | Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy. |
| Acatalasia | |
| Ocular albinism 1 | |
| X-linked chondrodysplasia punctata 2 | |
| Facioscapulohumeral muscular dystrophy | OMIM mapping confirmed by DO. [SN]. |
| Congenital central hypoventilation syndrome | disease cluster belonging to disease group developmental |
| Wolfram syndrome | A genetic disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding wolframin (WFS1). |
| Vitiligo | A disorder consisting of areas of macular depigmentation, commonly on extensor aspects of extremities, on the face or neck, and in skin folds. Age of onset is often in young adulthood and the condition tends to progress gradually with lesions enlarging and extending until a quiescent state is reached. |
| 7q11.23 duplication syndrome | |
| T-cell immunodeficiency, congenital alopecia, and nail dystrophy | |
| Caffey disease | A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has_symptom soft-tissue swelling, has_symptom bone lesions, and has_symptom irritability. |
| Glanzmann's thrombasthenia | OMIM mapping confirmed by DO. [LS]. |
| Hypomyelinating leukodystrophy 7 | |
| Proteus syndrome | OMIM mapping confirmed by DO. [SN]. |
| Combined oxidative phosphorylation deficiency 12 | |
| Combined oxidative phosphorylation deficiency | |
| Tay-Sachs disease | OMIM mapping confirmed by DO. [SN]. |
| Neuronal ceroid lipofuscinosis 3 | |
| GM2 gangliosidosis | |
| Glutaric acidemia I | |
| Myofibrillar myopathy 9 | |
| Tibial muscular dystrophy | |
| Congenital myopathy 5 | |
| Bowen-Conradi syndrome | OMIM mapping confirmed by DO. [SN]. |
| Hidradenitis | |
| Hidradenitis suppurativa | OMIM mapping confirmed by DO. [SN]. |
| Sweat gland disease | |
| Tetraamelia syndrome | |
| Intracranial arterial disease | |
| Moyamoya disease | A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots. |
| Cerebral arterial disease | |
| thrombocytopenia-absent radius syndrome | OMIM mapping confirmed by DO. [LS]. |
| Freeman-Sheldon syndrome | |
| Cyclic hematopoiesis | OMIM mapping confirmed by DO. [SN]. |
| Allan-Herndon-Dudley syndrome | An X-linked disease that is caused by mutation in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement. |
| Keratosis follicularis | OMIM mapping confirmed by DO. [SN]. |
| Warsaw breakage syndrome | |
| DICER1 syndrome | |
| Sensory system cancer | A nervous system cancer that is located_in the sensory system. |
| Feingold syndrome | Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures. |
| Patau syndrome | OMIM mapping confirmed by DO. [LS]. |
| Ocular cancer | A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye. |
| Very long chain acyl-CoA dehydrogenase deficiency | Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis. |
| Anxiety disorder | A cognitive disorder that involves an excessive, irrational dread of everyday situations. |
| obsessive-compulsive disorder | An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and seemingly purposeful behavior which the individual generally recognizes as senseless and from which the individual does not derive pleasure although it may provide a release from tension. |
| Fibromyalgia | A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation. |
| Triosephosphate isomerase deficiency | A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_physical_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait. |
| Vitamin D-dependent rickets | |
| Monilethrix | OMIM mapping confirmed by DO. [SN]. |
| Polycythemia vera | |
| Spinocerebellar ataxia type 2 | |
| Hemiplegia | |
| Dystonia 12 | |
| Alternating hemiplegia of childhood | A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body. |
| Lysosomal acid lipase deficiency | Lysosomal acid lipase A (LIPA) deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis. |
| NGLY1-deficiency | |
| X-linked spinal muscular atrophy 2 | |
| VEXAS syndrome | |
| Robinow syndrome | A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. |
| Greenberg dysplasia | |
| Myotonia congenita | |
| Congenital nonspherocytic hemolytic anemia | |
| Pyruvate kinase deficiency of red cells | |
| Hyperphosphatasia with impaired intellectual development syndrome | |
| Thanatophoric dysplasia | An osteochondrodysplasia that results_in short arms and legs with excess folds of skin. |
| Crouzon syndrome-acanthosis nigricans syndrome | |
| SADDAN | |
| Hypochondroplasia | An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism. |
| Muenke Syndrome | |
| Achondroplasia | An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone. |
| Autosomal recessive intellectual developmental disorder | |
| Pyrimidine metabolic disorder | |
| Dihydropyrimidinase deficiency | |
| Brunner Syndrome | |
| Kaufman oculocerebrofacial syndrome | |
| Progressive supranuclear palsy | A movement disease characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain. |
| Celiac disease | A food allergy that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.|A malabsorption syndrome that is precipitated by the ingestion of GLUTEN-containing foods, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION.|A food hypersensitivity that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.|A malabsorption syndrome that is precipitated by the ingestion of foods containing GLUTEN, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION. |
| Hemoglobinuria | |
| Diarrhea | A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea. |
| Microvillus inclusion disease | |
| Congenital diarrhea | |
| Proteinuria | |
| Paroxysmal nocturnal hemoglobinuria | NT MGI. |
| Mucopolysaccharidosis II | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase. |
| Ataxia telangiectasia | OMIM mapping confirmed by DO. [SN]. |
| Rosacea | |
| Neuronal ceroid lipofuscinosis 8 | |
| tarsal-carpal coalition syndrome | An autosomal dominant disease that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion. |
| Otulipenia | |
| Native American myopathy | Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia. |
| Pleural disease | A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism. |
| adult-onset leukoencephalopathy with axonal spheroids and pigmented glia | |
| Diastrophic dysplasia | An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism. |
| Achondrogenesis | An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period. |
| Distal 10q deletion syndrome | |
| Pneumothorax | |
| Primary spontaneous pneumothorax | |
| Craniometaphyseal dysplasia | An osteosclerosis that has_material_basis_in mutations in the ANKH gene which results_in progressive thickening located_in skull and abnormally shaped ends of long bones in the limbs. |
| Erythrokeratodermia variabilis | OMIM mapping confirmed by DO. [SN]. |
| Oculodentodigital dysplasia | NT MGI. |
| Nevoid basal cell carcinoma syndrome | OMIM mapping confirmed by DO. [SN]. |
| Epidermolysis bullosa dystrophica | |
| Coenzyme Q10 deficiency disease | A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis. |
| Bradyopsia | |
| Cornelia de Lange syndrome | A genetic disease that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features. |
| Neurodegeneration with brain iron accumulation 2b | |
| Congenital disorder of glycosylation Ig | |
| Congenital disorder of glycosylation type I | A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor. |
| Vici syndrome | Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. |
| Alkaptonuria | An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct. |
| Acute necrotizing encephalitis | |
| Encephalitis | Encephalitis is a nervous system infectious disease characterized as an acute inflammation of the brain. The usual cause is a viral infection, but bacteria can also cause it. Cases can range from mild to severe. For mild cases, you could have flu-like symptoms. Serious cases can cause severe headache, sudden fever, drowsiness, vomiting, confusion and seizures. |
| Klippel-Feil syndrome | A physical disorder that has_material_basis_in abnormal segmentation of the vertebra during fetal development which results_in fusion located_in cervical vertebra. |
| Smith-Lemli-Opitz syndrome | OMIM mapping confirmed by DO. [LS]. |
| nail-patella syndrome | OMIM mapping confirmed by DO. [SN]. |
| Burn-McKeown syndrome | |
| Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | |
| Dopamine transporter deficiency syndrome | |
| Developmental and epileptic encephalopathy 13 | |
| Geleophysic dysplasia | Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as happy''). |
| Hyaline body myopathy | |
| Distal myopathy 1 | |
| Bloom syndrome | OMIM mapping confirmed by DO. [SN]. |
| Congenital disorder of glycosylation Ia | |
| Choroideremia | OMIM mapping confirmed by DO. [SN]. |
| Syndromic X-linked intellectual disability Siderius type | |
| Choroid disease | |
| Hereditary spastic paraplegia 3A | |
| Neurofibromatosis | |
| Schimke immuno-osseous dysplasia | Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome. |
| Spinal muscular atrophy with lower extremity predominant | |
| Neurodegeneration with brain iron accumulation 5 | |
| Atrophic muscular disease | |
| Brody myopathy | OMIM mapping confirmed by DO. [SN]. |
| GM2 gangliosidosis, AB variant | |
| Hyperargininemia | An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine. |
| ankyrin-B-related cardiac arrhythmia | |
| Hyperprolinemia | An increased concentration of proline in the blood. |
| corticosteroid-binding globulin deficiency | |
| Peters plus syndrome | Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism. |
| Glycine encephalopathy | An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues. |
| 3-methylcrotonyl-CoA carboxylase deficiency | An amino acid metabolic disorder that has_material_basis_in mutations in the MCCC1 and MCCC2 genes causing inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy. |
| Central nervous system cancer | A primary or metastatic malignant neoplasm involving the brain or spinal cord. Representative examples include anaplastic astrocytoma, glioblastoma, anaplastic (malignant) meningioma, lymphoma, and metastatic carcinoma from another anatomic site.|Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH). |
| Atypical teratoid rhabdoid tumor | A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system. |
| Ornithine translocase deficiency | An amino acid metabolic disorder that has_material_basis in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood. |
| Brain cancer | A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain. |
| Juvenile polyposis syndrome | An autosomal dominant disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum. |
| Isolated elevated serum creatine phosphokinase levels | |
| Ellis-Van Creveld syndrome | OMIM mapping confirmed by DO. [SN]. |
| Weyers acrofacial dysostosis | |
| Acrofacial dysostosis | |
| Menkes disease | OMIM mapping confirmed by DO. [SN]. |
| Liddle syndrome | OMIM mapping confirmed by DO. [SN]. |
| Sjogren-Larsson syndrome | OMIM mapping confirmed by DO. [LS]. |
| White-Sutton syndrome | |
| Progressive myoclonus epilepsy | |
| Lafora disease | OMIM mapping confirmed by DO. [SN]. |
| Nager acrofacial dysostosis | |
| Agenesis of the corpus callosum with peripheral neuropathy | |
| Variable age at onset electroclinical syndrome | |
| Vestibular schwannomatosis | |
| Mucosulfatidosis | OMIM mapping confirmed by DO. [SN]. |
| Orofaciodigital syndrome | A genetic disease that is characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of an OFD gene. |
| Autosomal recessive congenital ichthyosis 4B | |
| Unverricht-Lundborg syndrome | OMIM mapping confirmed by DO. [LS]. |
| Progressive myoclonus epilepsy 1B | |
| Winchester syndrome | |
| Sebaceous gland disease | A skin disease that is located_in the sebaceous gland. |
| Familial encephalopathy with neuroserpin inclusion bodies | A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern. |
| Steatocystoma multiplex | Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities). |
| Buschke-Ollendorff syndrome | |
| Argininosuccinic aciduria | An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine. |
| Familial nephrotic syndrome | |
| Nephrosis | |
| Nephrotic syndrome | Xref MGI. |
| Cri-Du-Chat syndrome | OMIM mapping confirmed by DO. [SN]. |
| Hypotrichosis 6 | |
| Hereditary neuropathy with liability to pressure palsies | Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities. |
| platelet-type bleeding disorder 11 | |
| Plasminogen deficiency type I | |
| Prothrombin deficiency | OMIM mapping confirmed by DO. [SN]. |
| Prothrombin thrombophilia | |
| Glycogen storage disease II | A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome. |
| GM1 gangliosidosis | |
| Roberts syndrome | OMIM mapping confirmed by DO. [SN]. |
| Hyaline fibromatosis syndrome | |
| Gillespie syndrome | |
| Glycogen storage disease III | OMIM mapping confirmed by DO. [SN]. |
| Hereditary spastic paraplegia 5A | |
| Familial male-limited precocious puberty | Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height. |
| Leydig cell hypoplasia | |
| Megalencephalic leukoencephalopathy with subcortical cysts | Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic symptoms at presentation (such as mild motor delay), which worsen over years to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging (MRI) reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions. |
| Mitochondrial DNA depletion syndrome 7 | |
| Holt-Oram syndrome | Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. |
| Werner syndrome | OMIM mapping confirmed by DO. [LS]. |
| Blau syndrome | An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas caused_by NOD2/CARD15 mutations. |
| KBG syndrome | A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton. |
| Progeroid syndrome | |
| Kabuki syndrome | Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency. |
| SOST-related sclerosing bone dysplasia | A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull. |
| Lesch-Nyhan syndrome | OMIM mapping confirmed by DO. [SN]. |
| purine-pyrimidine metabolic disorder | An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism. |
| Macrocytic anemia | |
| Mucolipidosis III alpha/beta | |
| Complement component 2 deficiency | NT MGI. |
| Mucolipidosis II alpha/beta | |
| Megaloblastic anemia | A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production. |
| Legius syndrome | Legius syndrome, also known as NF1-like syndrome, is a rare, genetic, skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling. |
| Mitochondrial DNA depletion syndrome 2 | |
| Congenital nystagmus 1 | |
| Congenital nystagmus | A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction. |
| Pathologic nystagmus | |
| Gamstorp-Wohlfart syndrome | |
| Donohue syndrome | OMIM mapping confirmed by DO. [SN]. |
| Chordoma | A notochordal cancer that derives_from cellular remnants of the notochord. |
| Hartnup disease | An amino acid metabolic disorder that iis caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum. |
| Bone cancer | A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue. |
| Notochordal cancer | An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord. |
| Stomach disease | A gastrointestinal system disease that is located_in the stomach. |
| Stomach cancer | A gastrointestinal system cancer that is located_in the stomach. |
| Hereditary diffuse gastric cancer | |
| Diffuse gastric cancer | disease cluster belonging to disease group cancer |
| Congenital disorder of glycosylation type IIi | |
| Crigler-Najjar syndrome | A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT). |
| Gilbert syndrome | A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity. |
| Sly syndrome | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. |
| Spermatogenic failure | |
| Spermatogenic failure 5 | |
| Melorheostosis | An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex. |
| Primary hyperoxaluria | OMIM mapping confirmed by DO. [SN]. |
| Paget's disease of bone 5 | |
| Pentosuria | Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day. |
| Potocki-Lupski syndrome | |
| Smith-Magenis syndrome | Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay. |
| Focal dermal hypoplasia | OMIM mapping confirmed by DO. [SN]. |
| Syndromic microphthalmia 3 | |
| Syndromic microphthalmia | |
| Wolff-Parkinson-White syndrome | A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway. |
| microcephaly, seizures, and developmental delay | |
| Van der Woude syndrome | A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone. |
| Ohdo syndrome | |
| Ohdo syndrome, SBBYS variant | |
| Corticosterone methyloxidase deficiency 1 | |
| Marfan syndrome | OMIM mapping confirmed by DO. [SN]. |
| Acromicric dysplasia | Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands. |
| Isolated ectopia lentis | |
| carnitine-acylcarnitine translocase deficiency | Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy. |
| Mitochondrial trifunctional protein deficiency | Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.. |
| Peutz-Jeghers syndrome | OMIM mapping confirmed by DO. [SN]. |
| Peroxisomal acyl-CoA oxidase deficiency | A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy. |
| Succinic semialdehyde dehydrogenase deficiency | A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid. |
| N-acetylglutamate synthase deficiency | |
| Refsum disease | OMIM mapping confirmed by DO. [SN]. |
| Saul-Wilson syndrome | |
| Gnathodiaphyseal dysplasia | |
| Ethylmalonic encephalopathy | |
| Autoimmune polyendocrine syndrome | An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. |
| Congenital leptin deficiency | |
| Thiopurine S-methyltransferase deficiency | |
| Bone resorption disease | A bone remodeling disease that results in an abnormal decrease of bone density or mass. |
| Osteoporosis | Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis. |
| Idiopathic juvenile osteoporosis | An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. |
| osteoporosis-pseudoglioma syndrome | |
| Nuclear type mitochondrial complex I deficiency 20 | |
| Nuclear type mitochondrial complex I deficiency | |
| Pantothenate kinase-associated neurodegeneration | A neurodegenerative disease that is characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system. |
| 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia | |
| Weaver syndrome | OMIM mapping confirmed by DO. [LS]. |
| Mullerian aplasia and hyperandrogenism | |
| Urticaria | Urticaria is a kind of skin rash notable for pale red, raised, itchy bumps that might also cause a burning or stinging sensation. It is often but not necessarily caused by an allergic reaction. |
| Vibratory urticaria | |
| Physical urticaria | An urticaria induced by external physical influences. |
| Optic atrophy | Xref MGI. |
| Optic atrophy 3 | |
| 3-methylglutaconic aciduria type 3 | |
| Progressive myoclonus epilepsy 1A | |
| Schuurs-Hoeijmakers Syndrome | |
| Autoimmune polyendocrine syndrome type 1 | An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. |
| Male infertility due to globozoospermia | |
| Spermatogenic failure 9 | |
| Dystonia 16 | Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism. |
| Multifocal dystonia | |
| Hereditary spastic paraplegia 8 | |
| Schwartz-Jampel syndrome 1 | |
| Floating-Harbor syndrome | Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay. |
| Otospondylomegaepiphyseal dysplasia, autosomal dominant | |
| Otospondylomegaepiphyseal dysplasia, autosomal recessive | |
| Fibrochondrogenesis | |
| Alopecia | A hypotrichosis that is characterized by a loss of hair from the head or body. |
| Hereditary sensory and autonomic neuropathy type 1 | |
| Kennedy's disease | |
| Androgenic alopecia | |
| Riley-Day syndrome | OMIM mapping confirmed by DO. [SN]. |
| Androgen insensitivity syndrome | A testicular disease and hermaphroditism that is characterized by the partial or complete inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup. |
| Hereditary sensory and autonomic neuropathy type 1A | |
| proteosome-associated autoinflammatory syndrome | |
| proteasome-associated autoinflammatory syndrome 1 | |
| Hypophosphatasia | OMIM mapping confirmed by DO. [SN]. |
| Tangier disease | OMIM mapping confirmed by DO. [LS]. |
| Xia-Gibbs Syndrome | |
| X-linked severe combined immunodeficiency | |
| Nasu-Hakola disease | Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities. |
| Pulmonary hypertension | Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES.|A syndrome with pathological changes in the pulmonary arteries and impaired PULMONARY CIRCULATION that can be the result of PULMONARY HYPERTENSION. Ayerza syndrome is characterized by slowly developing ASTHMA; BRONCHITIS; DYSPNEA; and CYANOSIS in association with POLYCYTHEMIA. |
| Pulmonary venoocclusive disease | OMIM mapping confirmed by DO. [SN]. |
| Fucosidosis | OMIM mapping confirmed by DO. [SN]. |
| 3-methylglutaconic aciduria type 1 | |
| Brain small vessel disease | |
| Brain small vessel disease 1 | |
| Dent disease | A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene. |
| Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | |
| Aarskog syndrome | |
| X-linked Aarskog syndrome | |
| Woodhouse-Sakati syndrome | Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. |
| Hyper IgE recurrent infection syndrome 1 | |
| Hyperimmunoglobulin syndrome | |
| Hyper IgE syndrome | |
| Rubinstein-Taybi syndrome | An autosomal dominant disease characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes; additionally it can include eye abnormalities, heart and kidney defects, dental problems and obesity. |
| Factor VII deficiency | |
| Factor X deficiency | |
| 17-beta hydroxysteroid dehydrogenase 3 deficiency | |
| Arts syndrome | An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene. |
| Lateral meningocele syndrome | |
| CADASIL | |
| Phosphoribosylpyrophosphate synthetase superactivity | Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprising two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies, and a mild late-onset form with no neurologic involvement. |
| Wiedemann-Rautenstrauch syndrome | |
| Chronic atrial and intestinal dysrhythmia | |
| Developmental and epileptic encephalopathy 26 | |
| Bannayan-Riley-Ruvalcaba syndrome | OMIM mapping confirmed by DO. [SN]. |
| Thrombotic thrombocytopenic purpura | |
| Alpha thalassemia-X-linked intellectual disability syndrome | |
| Phosphoglycerate kinase 1 deficiency | |
| histiocytosis-lymphadenopathy plus syndrome | |
| Developmental and epileptic encephalopathy 4 | |
| Canavan disease | OMIM mapping confirmed by DO. [SN]. |
| Mandibuloacral dysplasia | |
| Lymph node disease | |
| Congenital disorder of glycosylation Im | |
| Kawasaki disease | A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities. |
| Lymphadenitis | |
| Galactosialidosis | |
| Spondyloepiphyseal dysplasia with congenital joint dislocations | A spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. |
| deafness-dystonia-optic neuronopathy syndrome | |
| Adenosine deaminase deficiency | A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP. |
| Sandhoff disease | OMIM mapping confirmed by DO. [SN]. |
| Multiple cutaneous and mucosal venous malformations | An autosomal dominant disease that is characterized by multiple bluish cutaneous or mucosal venous lesions. |
| Vein disease | A vascular disease that is located_in a vein. |
| Mitochondrial DNA depletion syndrome 6 | |
| Legg-Calve-Perthes disease | An osteochondrosis that results_in death and fracture located_in hip joint. |
| Spondyloperipheral dysplasia | |
| Torrance type platyspondylic dysplasia | |
| Kniest dysplasia | An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. |
| Spondyloepiphyseal dysplasia congenita | OMIM mapping confirmed by DO. [SN]. |
| adult-onset autosomal dominant demyelinating leukodystrophy | |
| Von Willebrand's disease | A coagulation protein disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion. |
| Central diabetes insipidus | |
| Developmental and epileptic encephalopathy 2 | |
| Coffin-Lowry syndrome | OMIM mapping confirmed by DO. [SN]. |
| Retinoschisis | |
| X-linked juvenile retinoschisis 1 | |
| myostatin-related muscle hypertrophy | |
| Turner syndrome | No OMIM mapping, confirmed by DO. [LS]. |
| Leri-Weill dyschondrosteosis | |
| African iron overload | |
| Spinocerebellar ataxia type 36 | |
| Hypermanganesemia with dystonia | |
| Cystinosis | |
| Pulmonary alveolar microlithiasis | OMIM mapping confirmed by DO. [SN]. |
| Spinal muscular atrophy with progressive myoclonic epilepsy | |
| Farber lipogranulomatosis | OMIM mapping confirmed by DO. [SN]. |
| MLS syndrome | |
| Linear skin defects with multiple congenital anomalies 1 | |
| Histidine metabolism disease | An amino acid metabolic disorder that involves deficiency in histidine. |
| Osteochondrosis | An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone. |
| Xanthinuria | A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones. |
| Krabbe disease | OMIM mapping confirmed by DO. [SN]. |
| Hypertrichotic osteochondrodysplasia Cantu type | |
| Histidinemia | A histidine metabolism disease that involves a deficiency of the enzyme histidase. |
| hyperferritinemia-cataract syndrome | |
| Neurodegeneration with brain iron accumulation 3 | |
| Hereditary spastic paraplegia 11 | |
| Syndromic microphthalmia 2 | |
| Adenine phosphoribosyltransferase deficiency | Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy. |
| Spina bifida | |
| Anencephaly | |
| Tic disorder | A specific developmental disorder that is characterized by the persistent presence of involuntary brief movements or sounds occuring intermittently and unpredictably out of a background of normal motor activity. |
| Gilles de la Tourette syndrome | A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year. |
| Lymphedema | |
| Hereditary lymphedema I | |
| Hereditary lymphedema | A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system. |
| X-linked thrombocytopenia with beta-thalassemia | |
| Wiskott-Aldrich syndrome | OMIM mapping confirmed by DO. [SN]. |
| Partington syndrome | |
| Developmental and epileptic encephalopathy 1 | |
| Frasier syndrome | OMIM mapping confirmed by DO. [SN]. |
| Adrenal cortex disease | |
| Adrenal cortical hypofunction | |
| X-linked adrenal hypoplasia congenita | |
| Denys-Drash syndrome | An autosomal dominant disease that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene). |
| McLeod syndrome | |
| Neuroacanthocytosis | |
| Bietti crystalline corneoretinal dystrophy | OMIM mapping confirmed by DO. [SN]. |
| X-linked dilated cardiomyopathy | disease cluster belonging to disease group cardiovascular |
| Microphthalmia with limb anomalies | Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly. |
| Lyme disease | A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system. |
| Fumarase deficiency | |
| Carnitine palmitoyltransferase I deficiency | |
| Congenital myopathy 1B | |
| Malignant hyperthermia | A genetic disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature. |
| beta-ketothiolase deficiency | OMIM mapping confirmed by DO. [SN]. |
| Purine nucleoside phosphorylase deficiency | A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder caused by a mutaion in the PNP gene and characterized mainly by decreased T-cell function. |
| Perry syndrome | Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression. |
| X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia | |
| Popliteal pterygium syndrome | NT MGI. |
| Marinesco-Sjogren syndrome | |
| Autosomal recessive spinocerebellar ataxia 8 | |
| Immunodeficiency 48 | |
| T cell deficiency | |
| Nijmegen breakage syndrome | OMIM mapping confirmed by DO. [SN]. |
| Nemaline myopathy 3 | |
| Hypomyelinating leukodystrophy 2 | |
| Arterial tortuosity syndrome | A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta. |
| Adermatoglyphia | |
| Congenital myopathy 1A | |
| Hereditary sensory neuropathy type 1E | |
| Hereditary spastic paraplegia 49 | |
| Microcephalic osteodysplastic primordial dwarfism type II | Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease. |
| Cohen syndrome | Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity. |
| Nonsyndromic congenital nail disorder 1 | |
| Aortic valve disease | Updating out dated UMLS CUI. |
| Heart valve disease | A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right). |
| Supravalvular aortic stenosis | |
| Aortic valve stenosis | An aortic valve disease that has_physical_basis_in incomplete opening of the aortic valve. |
| Choreaacanthocytosis | |
| Neuronal ceroid lipofuscinosis 4 | |
| Hereditary spastic paraplegia 17 | |
| Primary hypomagnesemia | |
| Netherton syndrome | OMIM mapping confirmed by DO. [SN]. |
| Timothy syndrome | An autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form caused by mutations in a transcript variant of CACNA1C. |
| Dihydropyrimidine dehydrogenase deficiency | A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine. |
| Stargardt disease | An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness. |
| Mitochondrial DNA depletion syndrome 3 | |
| Lactose intolerance | OMIM mapping confirmed by DO. [SN]. |
| MASA syndrome | An X-linked disease characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range. |
| Renal coloboma syndrome | Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia. |
| Centronuclear myopathy X-linked | |
| X-linked intellectual developmental disorder 109 | |
| CHILD syndrome | CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. |
| Mucolipidosis type IV | |
| Congenital sucrase-isomaltase deficiency | |
| Combined oxidative phosphorylation deficiency 1 | |
| Terminal osseous dysplasia | |
| Melnick-Needles syndrome | |
| Frontometaphyseal dysplasia | Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss. |
| Otopalatodigital syndrome type 2 | Otopalatodigital syndrome type 2 (OPD2) is a severe form of frontootopalatodigital syndrome (see this term), characterized by dysmorphic facies, a severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine), and poor survival. |
| Otopalatodigital syndrome type 1 | Otopalatodigital syndrome type 1 (OPD1) is the mildest form of frontootopalatodigital syndrome (see this term), characterized by a generalized skeletal dysplasia, mild intellectual disability, hearing loss, and typical facial anomalies. |
| Otopalatodigital syndrome spectrum disorder | |
| X-linked cardiac valvular dysplasia | |
| Fragile X-associated tremor/ataxia syndrome | A neurodegenerative disease that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA. |
| Cleidocranial dysplasia | An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull. |
| Helsmoortel-Van Der Aa Syndrome | |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | |
| Carnitine palmitoyltransferase II deficiency | |
| Christianson syndrome | Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures. |
| X-linked hyper IgM syndrome | |
| Hyper IgM syndrome | |
| Norum disease | OMIM mapping confirmed by DO. [SN]. |
| Medium chain acyl-CoA dehydrogenase deficiency | Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention. |
| Fragile X syndrome | A neurodegenerative disease that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in a loss of FMR1 function. |
| Primary ovarian insufficiency 1 | |
| X-linked hereditary ataxia | |
| Urofacial syndrome | An autosomal recessive disease that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding. |
| McCune Albright syndrome | An autosomal dominant disease that involves skin pigmentation, bone and hormonal problems along with premature puberty. It is caused by mutations in the GNAS1 gene. |
| Progressive osseous heteroplasia | |
| Oculocerebrorenal syndrome | OMIM mapping confirmed by DO. [SN]. |
| Klippel-Trenaunay syndrome | A rare congenital syndrome characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. |
| Trimethylaminuria | Increased concentration of trimethylamine in the urine. |
| Antithrombin III deficiency | An inherited blood coagulation disease characterized by the tendency to form clots in the veins. |
| Factor V deficiency | OMIM mapping confirmed by DO. [SN]. |
| Factor XIII deficiency | OMIM mapping confirmed by DO. [SN]. |
| ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | |
| Progeria | OMIM mapping confirmed by DO. [SN]. |
| Tatton-Brown-Rahman syndrome | |
| Congenital muscular dystrophy due to LMNA mutation | |
| Progressive myoclonus epilepsy 4 | |
| Autosomal dominant intellectual developmental disorder 43 | |
| Parathyroid carcinoma | An endocrine gland cancer located_in the parathyroid glands located in the neck. |
| Parathyroid gland disease | An endocrine system disease that is located_in the parathyroid gland. |
| Mucopolysaccharidosis VI | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase. |
| Iron metabolism disease | |
| Aceruloplasminemia | An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus. |
| Chromosome 2q37 deletion syndrome | |
| Mitochondrial DNA depletion syndrome 13 | |
| Aspartylglucosaminuria | OMIM mapping confirmed by DO. [SN]. |
| Hereditary sensory and autonomic neuropathy type 5 | |
| Progressive pseudorheumatoid arthropathy of childhood | |
| Lipoid proteinosis | OMIM mapping confirmed by DO. [SN]. |
| Gyrate atrophy | OMIM mapping by NeuroDevNet. [LS]. |
