| 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 |
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Gene Attribute
Gene Similarity
Attribute Similarity
UMAP
1573 sets of genes involed in diseases from the DISEASES Curated Gene-Disease Assocation Evidence Scores 2025 dataset.
| Gene Set | Description |
|---|---|
| 17-beta hydroxysteroid dehydrogenase 3 deficiency | |
| 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. |
| 3-M syndrome | An autosomal recessive disease characterized by dwarfism, facial dysmorphia and skeletal abnormalities. |
| 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. |
| 3-methylglutaconic aciduria | |
| 3-methylglutaconic aciduria type 1 | |
| 3-methylglutaconic aciduria type 3 | |
| 3-methylglutaconic aciduria type 5 | |
| 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia | |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | |
| 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. |
| 46,XX sex reversal | |
| 46,XY sex reversal | |
| 7q11.23 duplication syndrome | |
| Aarskog syndrome | |
| 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). |
| Absence epilepsy | |
| Acanthoma | |
| Acatalasia | |
| 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. |
| 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. |
| Achondroplasia | An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone. |
| 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. |
| 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. |
| 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. |
| Acrocephalosyndactylia | A synostosis that results_in craniosynostosis and syndactyly. |
| Acrofacial dysostosis | |
| 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. |
| 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). |
| 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. |
| Acute necrotizing encephalitis | |
| 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) |
| Adams-Oliver syndrome | A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs. |
| 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. |
| 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. |
| 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. |
| 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. |
| Adermatoglyphia | |
| adolescence-adult electroclinical syndrome | An electroclinical syndrome with onset in adolescence and adulthood. |
| Adrenal cortex disease | |
| Adrenal cortical hypofunction | |
| Adrenal gland disease | An endocrine system disease that is located_in the adrenal gland. |
| Adrenal gland hyperfunction | |
| 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. |
| adult-onset autosomal dominant demyelinating leukodystrophy | |
| adult-onset leukoencephalopathy with axonal spheroids and pigmented glia | |
| African iron overload | |
| Agammaglobulinemia | A B cell deficiency that is caused by a reduction in all types of gamma globulins. |
| 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. |
| 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. |
| Agenesis of the corpus callosum with peripheral neuropathy | |
| Agranulocytosis | |
| 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. |
| 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. |
| Alcohol use disorder | |
| 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. |
| Alkaptonuria | An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct. |
| 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. |
| 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. |
| Allergic disease | disease cluster belonging to disease group immune |
| Alopecia | A hypotrichosis that is characterized by a loss of hair from the head or body. |
| 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. |
| Alpers-Huttenlocher syndrome | |
| 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. |
| Alpha thalassemia | Alpha thalassemia is a thalassemia involving the genes HBA1and HBA2 hemoglobin genes. |
| Alpha thalassemia-X-linked intellectual disability syndrome | |
| 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. |
| alpha-methylacyl-CoA racemase deficiency | |
| Alport syndrome | A monogenic disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss. |
| 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. |
| Alternating hemiplegia of childhood | A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body. |
| 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. |
| Amelogenesis imperfecta | A dental enamel hypoplasia characterized by abnormal enamel formation. |
| Amino acid metabolic disorder | An inherited metabolic disorders which impair the synthesis and degradation of amino acids. |
| Amyloidosis | An acquired metabolic disease that involves abnormal deposited of amyloid proteins in organs and/or tissues. |
| 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) |
| Amyotrophic neuralgia | OMIM mapping confirmed by DO. [SN]. |
| Anauxetic dysplasia | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| 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. |
| Androgenic alopecia | |
| Anemia | A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin. |
| Anencephaly | |
| Angelman syndrome | 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 |
| Aniridia | OMIM mapping confirmed by DO. [SN]. |
| ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | |
| 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. |
| ankyrin-B-related cardiac arrhythmia | |
| Antithrombin III deficiency | An inherited blood coagulation disease characterized by the tendency to form clots in the veins. |
| Anxiety disorder | A cognitive disorder that involves an excessive, irrational dread of everyday situations. |
| Aortic aneurysm | An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size. |
| Aortic disease | An artery disease that is characterized by degeneration of the cells composing the aortic wall. |
| Aortic valve disease | Updating out dated UMLS CUI. |
| Aortic valve stenosis | An aortic valve disease that has_physical_basis_in incomplete opening of the aortic valve. |
| Aplastic anemia | An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow. |
| APP-related cerebral amyloid angiopathy | |
| Argininosuccinic aciduria | An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine. |
| Aromatase excess syndrome | |
| Aromatic L-amino acid decarboxylase deficiency | |
| 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. |
| 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. |
| Arterial tortuosity syndrome | A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta. |
| Arteriosclerosis | An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries. |
| Arteriosclerotic cardiovascular disease | |
| Artery disease | A vascular disease that is located_in an artery. |
| Arthritis | Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints. |
| 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. |
| Aspartylglucosaminuria | OMIM mapping confirmed by DO. [SN]. |
| Asphyxiating thoracic dystrophy | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| Ataxia telangiectasia | OMIM mapping confirmed by DO. [SN]. |
| Atherosclerosis | A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA. |
| Atopic dermatitis | A dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking. |
| 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. |
| Atrial heart septal defect | Xref MGI. |
| Atrophic muscular disease | |
| Atypical hemolytic-uremic syndrome | |
| Atypical teratoid rhabdoid tumor | A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system. |
| Auditory system disease | |
| 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. |
| Autoimmune disease | |
| 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. |
| 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. |
| Autoimmune disease of central nervous system | An autoimmune disease of the central nervous system. |
| 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. |
| Autoimmune disease of exocrine system | |
| 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. |
| Autoimmune disease of musculoskeletal system | |
| 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. |
| 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. |
| Autoimmune disease of the nervous system | |
| 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. |
| Autoimmune polyendocrine syndrome | An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. |
| 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. |
| 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. |
| Autonomic nervous system disease | |
| Autonomic nervous system neoplasm | A peripheral nervous system neoplasm that is located_in the autonomic nervous system. |
| Autosomal dominant cerebellar ataxia | |
| 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. |
| Autosomal dominant distal hereditary motor neuronopathy | |
| Autosomal dominant distal hereditary motor neuronopathy 5 | |
| Autosomal dominant familial periodic fever | |
| Autosomal dominant hypocalcemia | |
| Autosomal dominant intellectual developmental disorder | |
| Autosomal dominant intellectual developmental disorder 29 | |
| Autosomal dominant intellectual developmental disorder 35 | |
| Autosomal dominant intellectual developmental disorder 43 | |
| Autosomal dominant intellectual developmental disorder 5 | |
| 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. |
| Autosomal dominant vitreoretinochoroidopathy | |
| Autosomal genetic disease | A monogenic disease that is caused by a mutation in a single gene on one of the non-sex chromosomes. |
| Autosomal recessive cerebellar ataxia | |
| Autosomal recessive congenital ichthyosis | |
| Autosomal recessive congenital ichthyosis 4B | |
| 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. |
| Autosomal recessive distal hereditary motor neuronopathy | |
| Autosomal recessive distal hereditary motor neuronopathy 1 | |
| Autosomal recessive intellectual developmental disorder | |
| Autosomal recessive spinocerebellar ataxia 8 | |
| Axenfeld-Rieger syndrome | An autosomal dominant disease characterized by abnormalities of the front part of the eye, the anterior segment. |
| 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. |
| B-cell lymphoma | A non-Hodgkin lymphoma that has_material_basis_in B cells. |
| Bacterial infectious disease | A disease by infectious agent that results_in infection, has_material_basis_in Bacteria. |
| Baller-Gerold syndrome | OMIM mapping confirmed by DO. [SN]. |
| Bannayan-Riley-Ruvalcaba syndrome | OMIM mapping confirmed by DO. [SN]. |
| Baraitser-Winter syndrome | |
| 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. |
| Bart-Pumphrey syndrome | OMIM mapping confirmed by DO. [SN]. |
| Bartter disease | |
| 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). |
| Basal ganglia disease | |
| Beare-Stevenson cutis gyrata 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. |
| 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. |
| 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. |
| Benign neoplasm | A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize. |
| Benign recurrent intrahepatic cholestasis | |
| Bernard-Soulier 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. |
| beta-ketothiolase deficiency | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| Bietti crystalline corneoretinal dystrophy | OMIM mapping confirmed by DO. [SN]. |
| Bile duct adenocarcinoma | A bile duct carcinoma that derives_from epithelial cells of glandular origin. |
| Bile duct cancer | A biliary tract cancer that is located_in the bile duct. |
| Bile duct carcinoma | A bile duct cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| Bile duct disease | |
| Biliary tract cancer | A gastrointestinal system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct. |
| Biliary tract disease | |
| Bilirubin metabolic disorder | An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism. |
| biotin-responsive basal ganglia disease | OMIM mapping confirmed by DO. [SN]. |
| Biotinidase deficiency | A multiple carboxylase deficiency that involves a deficiency in biotinidase. |
| Birk-Barel syndrome | OMIM mapping confirmed by DO. [SN]. |
| Bjornstad syndrome | OMIM mapping confirmed by DO. [SN]. |
| Bladder disease | A urinary system disease that is located_in the bladder. |
| Blau syndrome | An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas caused_by NOD2/CARD15 mutations. |
| Blepharocheilodontic syndrome | |
| blepharophimosis, ptosis, and epicanthus inversus syndrome | OMIM mapping confirmed by DO. [SN]. |
| Blindness | |
| Bloch-Sulzberger syndrome | OMIM mapping confirmed by DO. [SN]. |
| Blood coagulation disease | |
| Blood platelet disease | |
| Blood protein disease | |
| Bloom syndrome | OMIM mapping confirmed by DO. [SN]. |
| Bone benign neoplasm | A connective tissue benign neoplasm that is located_in bone. |
| Bone cancer | A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue. |
| Bone deterioration disease | A bone structure disease that results_in change or damage of structure located_in bone. |
| Bone development disease | A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage. |
| Bone disease | A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. |
| Bone inflammation disease | A bone disease that results_in inflammation of the located_in bone. |
| Bone marrow cancer | A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow. |
| Bone marrow disease | |
| Bone remodeling disease | A bone disease that results_in formation or resorption abnormalities located_in bone. |
| Bone resorption disease | A bone remodeling disease that results in an abnormal decrease of bone density or mass. |
| Bone structure disease | A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure. |
| Boomerang dysplasia | OMIM mapping confirmed by DO. [SN]. |
| Borst-Jadassohn intraepidermal carcinoma | |
| Boucher-Neuhauser syndrome | |
| Bowen-Conradi syndrome | OMIM mapping confirmed by DO. [SN]. |
| Brachial plexus neuropathy | |
| Bradyopsia | |
| Brain cancer | A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain. |
| Brain disease | |
| Brain small vessel disease | |
| Brain small vessel disease 1 | |
| Branchiooculofacial syndrome | An autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts. |
| 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. |
| Breast cancer | A thoracic cancer that originates in the mammary gland. |
| Breast disease | A thoracic disease that is located_in the breast. |
| Brody myopathy | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| 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. |
| Brooke-Spiegler syndrome | OMIM mapping confirmed by DO. [SN]. |
| Brugada syndrome | A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. |
| Brunner Syndrome | |
| 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. |
| Burn-McKeown syndrome | |
| Buschke-Ollendorff syndrome | |
| CADASIL | |
| 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. |
| CAKUT | |
| Calcinosis | A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue. |
| Calcium metabolism disease | |
| 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. |
| camptodactyly-arthropathy-coxa vara-pericarditis syndrome | |
| 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. |
| Canavan disease | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| Carbamoyl phosphate synthetase I deficiency disease | An amino acid metabolic disorder that involves accumulation of ammonia in the blood. |
| Carbohydrate metabolic disorder | An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates. |
| Carcinoma | A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. |
| 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. |
| 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. |
| Cardiovascular organ benign neoplasm | An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system. |
| 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. |
| Carney complex | An autosomal dominant disease characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. |
| Carnitine palmitoyltransferase I deficiency | |
| Carnitine palmitoyltransferase II deficiency | |
| 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. |
| Carpal tunnel syndrome | OMIM mapping confirmed by DO. [SN]. |
| Carpenter syndrome | An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. |
| Castleman disease | |
| 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) |
| 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. |
| 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. |
| Cell type benign neoplasm | A benign neoplasm that is classified by the type of cell or tissue from which it is derived. |
| Cell type cancer | A cancer that is classified by the type of cell from which it is derived. |
| Central diabetes insipidus | |
| 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). |
| Central nervous system disease | A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system. |
| 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). |
| 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. |
| Centronuclear myopathy X-linked | |
| Cerebellar ataxia | A cerebellar disease characterized by ataxia originating in the cerebellum. |
| Cerebellar disease | |
| 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. |
| Cerebral arterial disease | |
| Cerebral cavernous malformation | |
| Cerebral creatine deficiency syndrome | |
| Cerebral creatine deficiency syndrome 1 | |
| Cerebral degeneration | |
| Cerebral folate receptor alpha deficiency | |
| 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. |
| Cerebrovascular disease | An artery disease that is characterized by dysfunction of the blood vessels supplying the brain. |
| Chanarin-Dorfman syndrome | |
| Char syndrome | |
| Charcot-Marie-Tooth disease | |
| Charcot-Marie-Tooth disease type 3 | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| Charlevoix-Saguenay spastic ataxia | |
| Chediak-Higashi syndrome | OMIM mapping confirmed by DO. [SN]. |
| Cherubism | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| 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. |
| Childhood electroclinical syndrome | An electroclinical syndrome with onset in childhood between one and 12 years of age. |
| Cholangiocarcinoma | |
| Cholestasis | |
| Chondrodysplasia punctata | |
| Chordoma | A notochordal cancer that derives_from cellular remnants of the notochord. |
| Choreaacanthocytosis | |
| Choroid disease | |
| Choroideremia | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| Chromosomal deletion syndrome | |
| Chromosomal disease | A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes. |
| Chromosomal duplication syndrome | |
| Chromosome 15q13.3 microdeletion syndrome | |
| Chromosome 15q24 deletion syndrome | |
| Chromosome 17q12 deletion syndrome | |
| Chromosome 18q deletion syndrome | |
| Chromosome 19p13.13 deletion syndrome | |
| Chromosome 1p36 deletion syndrome | |
| Chromosome 1q21.1 deletion syndrome | |
| Chromosome 22q11.2 microduplication syndrome | |
| Chromosome 2q37 deletion syndrome | |
| Chromosome 5q deletion syndrome | |
| Chronic atrial and intestinal dysrhythmia | |
| 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. |
| Chronic myeloid leukemia | A myeloid leukemia that is characterized by over production of white blood cells. |
| Chronic progressive external ophthalmoplegia | |
| Chronic pulmonary heart disease | |
| Chronic recurrent multifocal osteomyelitis | |
| 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. |
| 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. |
| 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. |
| Citrullinemia | An urea cycle disorder that involves the accumulation of ammonia in the blood. |
| 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. |
| Clouston syndrome | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| Coenzyme Q10 deficiency disease | A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis. |
| Coffin-Lowry syndrome | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| Cognitive disorder | A disease of mental health that affects cognitive functions including memory processing, perception and problem solving. |
| 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. |
| 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. |
| 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. |
| Collagen disease | |
| 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. |
| Colonic disease | |
| Color blindness | A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions. |
| Combined immunodeficiency | |
| Combined malonic and methylmalonic acidemia | |
| Combined oxidative phosphorylation deficiency | |
| Combined oxidative phosphorylation deficiency 1 | |
| Combined oxidative phosphorylation deficiency 12 | |
| 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. |
| 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). |
| Communication disorder | A specific developmental disorder that involves specific developmental disorders of speech and language. |
| Complement component 2 deficiency | NT MGI. |
| 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. |
| Complement factor I deficiency | OMIM mapping confirmed by DO. [SN]. |
| Complete generalized lipodystrophy | |
| 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. |
| Congenital afibrinogenemia | OMIM mapping confirmed by DO. [SN]. |
| Congenital bilateral absence of vas deferens | |
| Congenital bile acid synthesis defect | |
| Congenital bile acid synthesis defect 2 | |
| Congenital central hypoventilation syndrome | disease cluster belonging to disease group developmental |
| Congenital contractural arachnodactyly | |
| 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. |
| Congenital diarrhea | |
| Congenital disorder of glycosylation | A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids. |
| Congenital disorder of glycosylation Ia | |
| Congenital disorder of glycosylation Ig | |
| Congenital disorder of glycosylation Im | |
| Congenital disorder of glycosylation type I | A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor. |
| Congenital disorder of glycosylation type II | A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain. |
| Congenital disorder of glycosylation type IIi | |
| Congenital disorder of glycosylation type IIm | |
| 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. |
| Congenital fibrosis of the extraocular muscles | |
| Congenital generalized lipodystrophy | OMIM mapping confirmed by DO. [SN]. |
| Congenital heart disease | OMIM mapping confirmed by DO. [SN]. |
| Congenital hemolytic anemia | |
| Congenital hypoplastic anemia | |
| Congenital hypothyroidism | A hypothyroidism that is present at birth. |
| Congenital leptin deficiency | |
| Congenital merosin-deficient muscular dystrophy 1A | |
| Congenital mirror movement disorder | |
| 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. |
| Congenital muscular dystrophy due to LMNA mutation | |
| Congenital muscular dystrophy-dystroglycanopathy type A | |
| 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). |
| Congenital myopathy | |
| Congenital myopathy 1A | |
| Congenital myopathy 1B | |
| Congenital myopathy 4A | |
| Congenital myopathy 5 | |
| Congenital nervous system abnormality | |
| Congenital nonspherocytic hemolytic anemia | |
| Congenital nystagmus | A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction. |
| Congenital nystagmus 1 | |
| 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. |
| Congenital stationary night blindness 1B | |
| 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. |
| Congenital structural myopathy | |
| Congenital sucrase-isomaltase deficiency | |
| 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. |
| Connective tissue benign neoplasm | A musculoskeletal system benign neoplasm that is located_in connective tissue. |
| Connective tissue cancer | A musculoskeletal system cancer that is located_in connective tissue. |
| Connective tissue disease | A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. |
| Contact dermatitis | |
| contractures, pterygia, and spondylocarpotarsal fusion syndrome | |
| 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. |
| Core binding factor acute myeloid leukemia | |
| Corneal disease | |
| Corneal dystrophy | |
| Corneal endothelial dystrophy | |
| 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. |
| corticosteroid-binding globulin deficiency | |
| Corticosterone methyloxidase deficiency 1 | |
| Costello syndrome | OMIM mapping confirmed by DO. [SN]. |
| Cowden syndrome | |
| Cranial nerve disease | A neuropathy that is located_in one of the twelve cranial nerves. |
| Cranioectodermal dysplasia | |
| Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | |
| craniofacial-deafness-hand syndrome | |
| Craniofrontonasal syndrome | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| Craniosynostosis | A synostosis that results_in premature fusion located_in skull. |
| Creutzfeldt-Jakob disease | OMIM mapping confirmed by DO. [SN]. |
| Cri-Du-Chat syndrome | OMIM mapping confirmed by DO. [SN]. |
| 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). |
| Crohn's disease | An intestinal disease that involves inflammation located_in intestine. |
| 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. |
| Crouzon syndrome-acanthosis nigricans syndrome | |
| CST3-related cerebral amyloid angiopathy | |
| 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. |
| Cyclic hematopoiesis | OMIM mapping confirmed by DO. [SN]. |
| Cystic fibrosis | An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs. |
| Cystic kidney disease | |
| Cystinosis | |
| Cystinuria | An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder. |
| Cytochrome P450 oxidoreductase deficiency | |
| cytochrome-c oxidase deficiency disease | OMIM mapping confirmed by DO. [SN]. |
| D-bifunctional protein deficiency | |
| Dandy-Walker syndrome | OMIM mapping confirmed by DO. [SN]. |
| Danon disease | OMIM mapping confirmed by DO. [SN]. |
| deafness-dystonia-optic neuronopathy syndrome | |
| Degeneration of macula and posterior pole | |
| Degenerative disc disease | A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc. |
| 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. |
| Demyelinating disease | |
| 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. |
| Dental enamel hypoplasia | |
| 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. |
| Dentinogenesis imperfecta | OMIM mapping confirmed by DO. [SN]. |
| 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). |
| Depressive disorder | |
| Dermatitis | A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin. |
| Dermatofibrosarcoma protuberans | A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly. |
| Dermatopathia pigmentosa reticularis | |
| Desmoid tumor | |
| Developmental and epileptic encephalopathy | |
| Developmental and epileptic encephalopathy 1 | |
| Developmental and epileptic encephalopathy 13 | |
| Developmental and epileptic encephalopathy 14 | |
| Developmental and epileptic encephalopathy 2 | |
| Developmental and epileptic encephalopathy 26 | |
| Developmental and epileptic encephalopathy 4 | |
| 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. |
| Diabetes insipidus | |
| 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. |
| 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. |
| Diaphragm disease | A muscular disease that is located_in the diaphragm. |
| 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. |
| 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. |
| DICER1 syndrome | |
| Diffuse gastric cancer | disease cluster belonging to disease group cancer |
| Digenic disease | |
| 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. |
| Dihydropyrimidinase deficiency | |
| 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. |
| 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 |
| Disease | A disease is a disposition that describes states of disease associated with a particular sample and/or organism. |
| 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. |
| Disease of anatomical entity | A disease that manifests in a defined anatomical structure. |
| Disease of cellular proliferation | A disease that is characterized by abnormally rapid cell division. |
| 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. |
| Disease of metabolism | A disease that involving errors in metabolic processes of building or degradation of molecules. |
| Disorder of sexual development | |
| Distal 10q deletion syndrome | |
| Distal arthrogryposis | A muscle tissue disease characterized by congenital joint contractures of hand and feet. |
| Distal arthrogryposis type 1 | |
| Distal arthrogryposis type 2B | |
| Distal myopathy | |
| Distal myopathy 1 | |
| DOID:0050747 | |
| DOID:12252 | |
| 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). |
| Donohue syndrome | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| Dopamine beta-hydroxylase deficiency | |
| Dopamine transporter deficiency 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. |
| 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. |
| Drug dependence | Disorders related to substance abuse, the side effects of a medication, or toxin exposure. |
| Duane retraction syndrome | OMIM mapping confirmed by DO. [SN]. |
| Duane-radial ray syndrome | |
| 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. |
| 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. |
| Dysostosis | A bone development disease that results_in defective ossification of located_in bone. |
| Dystonia | |
| Dystonia 12 | |
| 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. |
| dystonia, DOPA-responsive | |
| Ectodermal dysplasia | Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. |
| Ectodermal dysplasia and immune deficiency | |
| Edwards syndrome | OMIM mapping confirmed by DO. [LS]. |
| 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. |
| 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. |
| Ellis-Van Creveld syndrome | OMIM mapping confirmed by DO. [SN]. |
| Emery-Dreifuss muscular dystrophy | A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle. |
| 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. |
| 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. |
| 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. |
| 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. |
| Epidermal nevus | Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood. |
| Epidermolysis bullosa | |
| Epidermolysis bullosa dystrophica | |
| Epidermolysis bullosa simplex | |
| Epidermolytic hyperkeratosis | OMIM mapping confirmed by DO. [SN]. |
| 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 |
| Episodic ataxia | A neuromuscular disease characterized by sporadic bouts of ataxia with or without continuous muscle movement. |
| Episodic kinesigenic dyskinesia 1 | |
| Epithelial and subepithelial dystrophy | |
| epithelial-stromal TGFBI dystrophy | |
| Erdheim-Chester disease | |
| Erythrokeratodermia variabilis | OMIM mapping confirmed by DO. [SN]. |
| Erythromelalgia | |
| Essential thrombocythemia | |
| Ethylmalonic encephalopathy | |
| 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. |
| Exostosis | A hyperostosis that involves formation of new bone on the surface of preexisting bone. |
| 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. |
| Eye degenerative disease | |
| Eye disease | An eye and adnexa disease that is located_in the eye. |
| Fabry disease | OMIM mapping confirmed by DO. [SN]. |
| Facioscapulohumeral muscular dystrophy | OMIM mapping confirmed by DO. [SN]. |
| Factor V deficiency | OMIM mapping confirmed by DO. [SN]. |
| Factor VII deficiency | |
| Factor X deficiency | |
| Factor XI deficiency | OMIM mapping confirmed by DO. [SN]. |
| Factor XIII deficiency | 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. |
| Familial atrial fibrillation | An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes. |
| Familial chylomicronemia syndrome | |
| Familial cold autoinflammatory syndrome | |
| Familial cold autoinflammatory syndrome 3 | |
| 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. |
| Familial focal epilepsy with variable foci | |
| Familial glucocorticoid deficiency | |
| 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. |
| Familial hypercholesterolemia | A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. |
| Familial hyperlipidemia | |
| Familial hypertrophic cardiomyopathy | |
| Familial isolated deficiency of vitamin E | |
| Familial lipoprotein lipase deficiency | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| 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. |
| Familial nephrotic syndrome | |
| Familial partial lipodystrophy | A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. |
| Familial periodic paralysis | |
| Familial temporal lobe epilepsy 1 | |
| Familial visceral amyloidosis | OMIM mapping confirmed by DO. [SN]. |
| Fanconi anemia | |
| Farber lipogranulomatosis | OMIM mapping confirmed by DO. [SN]. |
| Fatal familial insomnia | OMIM mapping confirmed by DO. [SN]. |
| Fazio-Londe disease | |
| 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. |
| 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. |
| 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. |
| 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. |
| Fibrochondrogenesis | |
| 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. |
| 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. |
| Fibrosarcoma | |
| Finnish type amyloidosis | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| Focal dermal hypoplasia | OMIM mapping confirmed by DO. [SN]. |
| Focal dystonia | A dystonia that is localized to a specific part of the body. |
| 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. |
| 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. |
| 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. |
| Fraser syndrome | |
| Frasier syndrome | OMIM mapping confirmed by DO. [SN]. |
| Freeman-Sheldon syndrome | |
| Friedreich ataxia | Xref MGI. |
| Frontal lobe epilepsy | |
| 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. |
| Frontonasal dysplasia | |
| 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. |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | |
| 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. |
| 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. |
| Fucosidosis | OMIM mapping confirmed by DO. [SN]. |
| Fukuyama congenital muscular dystrophy | OMIM mapping confirmed by DO. [SN]. |
| Fumarase deficiency | |
| Functioning pituitary adenoma | |
| 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. |
| Fundus dystrophy | |
| 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. |
| 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. |
| Galactosemia | A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. |
| Galactosialidosis | |
| gamma-amino butyric acid metabolism disorder | An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway. |
| Gamstorp-Wohlfart syndrome | |
| Gangliosidosis | |
| Gastrointestinal stromal tumor | OMIM mapping confirmed by DO. [SN]. |
| Gastrointestinal system cancer | An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system. |
| Gastrointestinal system disease | A disease of anatomical entity that is located_in the gastrointestinal tract. |
| 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. |
| 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. |
| 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''). |
| Generalized dystonia | A dystonia that affects most or all of the body. |
| 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. |
| Genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |
| 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. |
| Gestational diabetes | |
| Ghosal hematodiaphyseal syndrome | |
| 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. |
| 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. |
| Gillespie syndrome | |
| Gitelman syndrome | OMIM mapping confirmed by DO. [SN]. |
| Glanzmann's thrombasthenia | OMIM mapping confirmed by DO. [LS]. |
| 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. |
| Glucose metabolism disease | |
| Glucosephosphate dehydrogenase deficiency | A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH). |
| Glutamate formiminotransferase deficiency | |
| Glutaric acidemia I | |
| Glutathione synthetase deficiency | |
| Glycine encephalopathy | An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues. |
| Glycogen metabolism disorder | A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen. |
| 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 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. |
| 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. |
| Glycogen storage disease III | OMIM mapping confirmed by DO. [SN]. |
| Glycogen storage disease IV | OMIM mapping confirmed by DO. [SN]. |
| Glycogen storage disease V | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| Glycogen storage disease VII | OMIM mapping confirmed by DO. [SN]. |
| Glycoproteinosis | |
| GM1 gangliosidosis | |
| GM2 gangliosidosis | |
| GM2 gangliosidosis, AB variant | |
| Gnathodiaphyseal dysplasia | |
| GNE myopathy | |
| Gonadal disease | An endocrine system disease that is located_in the gonads. |
| Gonadal dysgenesis | A hypogonadism that is characterized by a progressive loss of germ cells on the developing gonads of an embryo. |
| Gordon Holmes syndrome | |
| 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. |
| 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). |
| Granular corneal dystrophy | |
| Granular corneal dystrophy 2 | |
| Granulomatosis with polyangiitis | |
| Graves' disease | An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland. |
| 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. |
| Greenberg dysplasia | |
| 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. |
| Griscelli syndrome | |
| Guanidinoacetate methyltransferase deficiency | |
| Guillain-Barre syndrome | An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system. |
| Gyrate atrophy | OMIM mapping by NeuroDevNet. [LS]. |
| Hailey-Hailey disease | OMIM mapping confirmed by DO. [SN]. |
| Hair disease | An integumentary system disease that is located_in hair. |
| Hair follicle neoplasm | |
| Hajdu-Cheney syndrome | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| 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. |
| 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. |
| Head and neck carcinoma | |
| 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. |
| Heart conduction disease | A cardiovascular system disease that involves the heart's electrical conduction system. |
| Heart disease | A cardiovascular system disease that involves the heart. |
| Heart septal defect | |
| 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). |
| Helsmoortel-Van Der Aa Syndrome | |
| Hemangioblastoma | |
| 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. |
| 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. |
| Hematopoietic system disease | An immune system disease that has_material_basis_in hematopoietic cells. |
| Hemiplegia | |
| Hemochromatosis | A metal metabolism disorder characterized by the accumulation of iron in various organs of the body. |
| Hemoglobinuria | |
| Hemolytic anemia | A type of anemia caused by premature destruction of red blood cells (hemolysis). |
| hemolytic-uremic syndrome | Xref MGI. |
| 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. |
| Hennekam syndrome | |
| Hepatic venoocclusive disease with immunodeficiency | |
| Hepatobiliary disease | A gastrointestinal system disease that is located_in the liver and/or biliary tract. |
| Hepatobiliary system cancer | |
| Hereditary angioedema | OMIM mapping confirmed by DO. [SN]. |
| Hereditary ataxia | |
| Hereditary diffuse gastric cancer | |
| 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. |
| Hereditary folate malabsorption | |
| 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. |
| Hereditary lymphedema | A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system. |
| Hereditary lymphedema I | |
| 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. |
| 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. |
| Hereditary night blindness | OMIM mapping confirmed by DO. [SN]. |
| Hereditary retinal dystrophy | |
| Hereditary sensory and autonomic neuropathy type 1 | |
| Hereditary sensory and autonomic neuropathy type 1A | |
| Hereditary sensory and autonomic neuropathy type 2 | |
| Hereditary sensory and autonomic neuropathy type 5 | |
| Hereditary sensory neuropathy | |
| Hereditary sensory neuropathy type 1E | |
| Hereditary spastic paraplegia | A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs. |
| Hereditary spastic paraplegia 11 | |
| Hereditary spastic paraplegia 15 | |
| Hereditary spastic paraplegia 17 | |
| Hereditary spastic paraplegia 2 | |
| Hereditary spastic paraplegia 31 | |
| Hereditary spastic paraplegia 35 | |
| Hereditary spastic paraplegia 3A | |
| Hereditary spastic paraplegia 49 | |
| Hereditary spastic paraplegia 5A | |
| Hereditary spastic paraplegia 7 | |
| Hereditary spastic paraplegia 8 | |
| 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. |
| 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. |
| 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. |
| Hidradenitis | |
| Hidradenitis suppurativa | OMIM mapping confirmed by DO. [SN]. |
| High myopia-sensorineural deafness syndrome | |
| Hirschsprung's disease | A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel. |
| Histidine metabolism disease | An amino acid metabolic disorder that involves deficiency in histidine. |
| Histidinemia | A histidine metabolism disease that involves a deficiency of the enzyme histidase. |
| Histiocytosis | A lymphatic system disease that is characterized by an excessive number of histiocytes. |
| histiocytosis-lymphadenopathy plus syndrome | |
| Holocarboxylase synthetase deficiency | A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase. |
| 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. |
| 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. |
| Homocystinuria | An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. |
| 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. |
| Hyaline body myopathy | |
| Hyaline fibromatosis syndrome | |
| Hyper IgE recurrent infection syndrome 1 | |
| Hyper IgE syndrome | |
| Hyper IgM syndrome | |
| Hyperargininemia | An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine. |
| Hyperekplexia | |
| hyperferritinemia-cataract syndrome | |
| Hyperimmunoglobulin syndrome | |
| Hyperinsulinemic hypoglycemia | A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin. |
| Hyperkalemic periodic paralysis | OMIM mapping confirmed by DO. [SN]. |
| Hyperlysinemia | An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood. |
| Hypermanganesemia with dystonia | |
| 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. |
| Hyperopia | |
| Hyperostosis | A bone remodeling disease that results in an abnormal growth of located_in bone. |
| Hyperphosphatasia with impaired intellectual development syndrome | |
| Hyperphosphatemic familial tumoral calcinosis | |
| Hyperprolinemia | An increased concentration of proline in the blood. |
| Hypersensitivity reaction disease | An immune system disease that is caused by abnormal immune responses. |
| Hypersensitivity reaction type IV disease | |
| 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. |
| Hypertrichotic osteochondrodysplasia Cantu type | |
| 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. |
| Hypochondroplasia | An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism. |
| Hypoglycemia | |
| Hypogonadism | A gonadal disease that is characterized by diminished functional activity of the gonads. |
| Hypogonadotropic hypogonadism | |
| 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). |
| Hypokalemic periodic paralysis | OMIM mapping confirmed by DO. [SN]. |
| Hypolipoproteinemia | |
| Hypomyelinating leukodystrophy | |
| Hypomyelinating leukodystrophy 2 | |
| Hypomyelinating leukodystrophy 7 | |
| Hypophosphatasia | OMIM mapping confirmed by DO. [SN]. |
| Hypophosphatemia | |
| 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. |
| Hypothyroidism | A deficiency of thyroid hormone. |
| 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. |
| Hypotrichosis 2 | |
| Hypotrichosis 6 | |
| 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. |
| 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. |
| 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. |
| 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. |
| Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | |
| 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. |
| Immune system disease | A disease of anatomical entity that is located_in the immune system. |
| Immunodeficiency 14 | |
| Immunodeficiency 23 | |
| Immunodeficiency 48 | |
| Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | |
| Inflammatory bowel disease | An intestinal disease characterized by inflammation located_in all parts of digestive tract. |
| 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. |
| 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. |
| Integumentary system disease | A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages. |
| 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. |
| Interstitial lung disease | |
| Interstitial lung disease 1 | |
| Intestinal disease | A gastrointestinal system disease that is located_in the intestine. |
| Intestinal pseudo-obstruction | |
| Intracranial arterial disease | |
| Intrahepatic cholestasis | Xref MGI. |
| Intrahepatic cholestasis of pregnancy | |
| Intrinsic cardiomyopathy | A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause. |
| Iris disease | |
| Iron metabolism disease | |
| Ischemic bone disease | A bone disease that results_in an interruption of blood supply located_in bone. |
| Isolated ectopia lentis | |
| Isolated elevated serum creatine phosphokinase levels | |
| Isolated growth hormone deficiency | |
| Isolated hyperchlorhidrosis | |
| Isolated sulfite oxidase deficiency | |
| Isovaleric acidemia | An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine. |
| ITM2B-related cerebral amyloid angiopathy 1 | |
| ITM2B-related cerebral amyloid angiopathy 2 | |
| Jackson-Weiss syndrome | |
| 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. |
| Jervell-Lange Nielsen syndrome | OMIM mapping confirmed by DO. [SN]. |
| 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). |
| Junctional epidermolysis bullosa | Xref MGI. |
| Junctional epidermolysis bullosa with pyloric atresia | |
| 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. |
| 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. |
| 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. |
| 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. |
| Kallmann syndrome | OMIM mapping confirmed by DO. [SN]. |
| Kaufman oculocerebrofacial syndrome | |
| 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. |
| 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. |
| Kennedy's disease | |
| Keratoconus | A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape. |
| Keratosis | |
| Keratosis follicularis | OMIM mapping confirmed by DO. [SN]. |
| Kidney cancer | A urinary system cancer that is located_in the kidney. |
| Kidney disease | A disease affecting the kidneys |
| 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. |
| 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. |
| Klinefelter syndrome | |
| 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. |
| Klippel-Trenaunay syndrome | A rare congenital syndrome characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. |
| 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. |
| 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. |
| Krabbe disease | OMIM mapping confirmed by DO. [SN]. |
| Kuru | |
| Lacrimoauriculodentodigital syndrome 1 | |
| Lactose intolerance | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| Lafora disease | OMIM mapping confirmed by DO. [SN]. |
| Langerhans-cell histiocytosis | A histiocytosis that is characterized by clonal proliferation of Langerhans cells. |
| Large congenital melanocytic nevus | |
| Laron syndrome | OMIM mapping confirmed by DO. [SN]. |
| Larsen syndrome | An autosomal dominant disease that is characterized by large-joint dislocations and characteristic craniofacial abnormalities. |
| Lateral meningocele syndrome | |
| Lattice corneal dystrophy | |
| Leber congenital amaurosis | A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. |
| Leber hereditary optic neuropathy | OMIM mapping confirmed by DO. [SN]. |
| Left ventricular noncompaction | |
| Legg-Calve-Perthes disease | An osteochondrosis that results_in death and fracture located_in hip joint. |
| 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. |
| 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. |
| Lennox-Gastaut syndrome | |
| Lens disease | |
| 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. |
| Leri-Weill dyschondrosteosis | |
| Lesch-Nyhan 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. |
| Leukocyte disease | |
| Leukodystrophy | A cerebral degeneration characterized by dysfunction of the white matter of the brain. |
| Leukoencephalopathy with vanishing white matter | |
| Leukopenia | decrease in no. of leukocytes |
| 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. |
| Leydig cell hypoplasia | |
| 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. |
| Liddle syndrome | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| Linear skin defects with multiple congenital anomalies 1 | |
| Lipid metabolism disorder | An inherited metabolic disorder that involves the creation and degradation of lipids. |
| 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. |
| Lipodystrophy | |
| Lipoid proteinosis | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| Lissencephaly 1 | |
| Lissencephaly 3 | |
| Liver disease | Any disease or dysfunction of the liver and the intrahepatic bile ducts.|Pathological processes of the LIVER. |
| Loeys-Dietz syndrome | |
| 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). |
| Lower respiratory tract disease | A respiratory system disease which involves the lower respiratory tract. |
| Lung cancer | A respiratory system cancer that is located_in the lung. |
| 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. |
| Lupus erythematosus | |
| 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. |
| Lymph node disease | |
| Lymphadenitis | |
| Lymphangioleiomyomatosis | |
| Lymphatic system cancer | An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue. |
| Lymphatic system disease | An immune system disease that is located_in the lymphatic system. |
| Lymphedema | |
| lymphedema-distichiasis syndrome | |
| 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. |
| Lymphoplasmacytic lymphoma | A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells. |
| Lymphoproliferative syndrome | |
| Lynch syndrome | |
| Lysinuric protein intolerance | Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism. |
| 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. |
| Lysosomal storage disease | An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. |
| 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. |
| Macrocytic anemia | |
| 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. |
| Maffucci syndrome | |
| Mal de Meleda | |
| Male infertility | |
| Male infertility due to globozoospermia | |
| 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. |
| Male reproductive system disease | A reproductive system disease that affects male reproductive organs. |
| 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. |
| Mandibuloacral dysplasia | |
| Mandibulofacial dysostosis, Guion-Almeida type | |
| 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. |
| Marfan syndrome | OMIM mapping confirmed by DO. [SN]. |
| Marinesco-Sjogren syndrome | |
| Marsili syndrome | |
| Martsolf syndrome | |
| 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. |
| Mastocytosis | OMIM mapping confirmed by DO. [LS]. |
| Mature T-cell and NK-cell lymphoma | A non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells. |
| maturity-onset diabetes of the young | A genetic disease that has_material_basis_in mutations in the MODY genes disrupting insulin production. |
| Mayer-Rokitansky-Kuster-Hauser syndrome | |
| 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. |
| McKusick-Kaufman syndrome | |
| McLeod syndrome | |
| 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. |
| 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. |
| 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. |
| Megacolon | A colonic disease that is characterized by an abnormal dilation of the colon. |
| 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. |
| 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. |
| Megaloblastic anemia | A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production. |
| Meier-Gorlin syndrome | An autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia and hypoplastic patellae. |
| 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. |
| Melnick-Needles syndrome | |
| Melorheostosis | An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex. |
| Menkes disease | OMIM mapping confirmed by DO. [SN]. |
| Metabolic dysfunction-associated steatotic liver disease | |
| Metachromatic leukodystrophy | A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system. |
| Metal metabolism disorder | An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. |
| Metaphyseal dysplasia | An osteochondrodysplasia that results_in thinning and the tendency to fracture located_in bone. |
| 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. |
| Methylmalonic acidemia | An organic acidemia that involves an accumulation of methylmalonic acid in the blood. |
| Mevalonic aciduria | OMIM mapping confirmed by DO. [SN]. |
| MHC class I deficiency | OMIM mapping confirmed by DO. [SN]. |
| MHC class II deficiency | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| Microcephaly | OMIM mapping confirmed by DO. [SN]. |
| microcephaly, seizures, and developmental delay | |
| Microcytic anemia | OMIM mapping confirmed by DO. [SN]. |
| Microphthalmia | |
| 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. |
| Microvillus inclusion disease | |
| 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. |
| Migraine with aura | A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon. |
| Miller-Dieker lissencephaly syndrome | |
| Mineral metabolism disease | An acquired metabolic disease that is characterized by abnormal mineral metabolism. |
| Mismatch repair cancer syndrome | |
| Mitochondrial complex I deficiency | |
| Mitochondrial complex III deficiency | |
| Mitochondrial DNA depletion syndrome | |
| Mitochondrial DNA depletion syndrome 13 | |
| Mitochondrial DNA depletion syndrome 2 | |
| Mitochondrial DNA depletion syndrome 3 | |
| Mitochondrial DNA depletion syndrome 4b | |
| Mitochondrial DNA depletion syndrome 5 | |
| Mitochondrial DNA depletion syndrome 6 | |
| Mitochondrial DNA depletion syndrome 7 | |
| Mitochondrial DNA depletion syndrome 8a | |
| Mitochondrial metabolism disease | An inherited metabolic disorder that involves mitochondrial metabolism dysfunction. |
| Mitochondrial myopathy | A myopathy that is characterized by mitochondrial dysfunction. |
| 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.. |
| Miyoshi muscular dystrophy | |
| MLS syndrome | |
| Molybdenum cofactor deficiency | Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase. |
| Monilethrix | OMIM mapping confirmed by DO. [SN]. |
| 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). |
| Mood disorder | A cognitive disorder that involves an excessive, irrational dread of everyday situations. |
| 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. |
| Motor neuron disease | A neurodegenerative disease that is located_in the motor neurones. |
| Mouth disease | A gastrointestinal system disease that is located_in the mouth. |
| Movement disease | |
| 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. |
| 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. |
| Mucolipidosis | A lysosomal storage disease that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). |
| Mucolipidosis II alpha/beta | |
| Mucolipidosis III alpha/beta | |
| Mucolipidosis III gamma | |
| Mucolipidosis type IV | |
| Mucopolysaccharidosis | A lysosomal storage disease that involves he accumulation of glycosaminoglycans in the tissues and their excretion in the urine. |
| Mucopolysaccharidosis I | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase. |
| Mucopolysaccharidosis II | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase. |
| Mucopolysaccharidosis III | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. |
| Mucopolysaccharidosis VI | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase. |
| Mucosulfatidosis | OMIM mapping confirmed by DO. [SN]. |
| Muenke Syndrome | |
| Mullerian aplasia and hyperandrogenism | |
| Multifocal dystonia | |
| Multiple acyl-CoA dehydrogenase deficiency | |
| Multiple carboxylase deficiency | An amino acid metabolic disorder that involves failures of carboxylation enzymes. |
| Multiple cutaneous and mucosal venous malformations | An autosomal dominant disease that is characterized by multiple bluish cutaneous or mucosal venous lesions. |
| Multiple endocrine neoplasia | |
| Multiple endocrine neoplasia type 2A | An autosomal dominant disease characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis. |
| 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. |
| Multiple mitochondrial dysfunctions syndrome | |
| 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. |
| 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. |
| Multiple system atrophy | OMIM mapping confirmed by DO. [LS]. |
| Muscle tissue disease | |
| Muscular disease | A musculoskeletal system disease that affects the muscles. |
| Muscular dystrophy | A myopathy is characterized by progressive skeletal muscle weakness degeneration. |
| Muscular dystrophy-dystroglycanopathy | Xref MGI. |
| Musculoskeletal system benign neoplasm | An organ system benign neoplasm that is located_in the muscular and skeletal organs. |
| Musculoskeletal system cancer | An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs. |
| Musculoskeletal system disease | A disease of anatomical entity that occurs in the muscular and/or skeletal system. |
| Mycosis fungoides | OMIM mapping confirmed by DO. [SN]. |
| Myelofibrosis | A myeloma that is located_in the bone marrow which results_in bone marrow being replaced by fibrous (scar) tissue. |
| Myeloid and lymphoid neoplasms associated with PDGFRA rearrangement | |
| Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 | |
| Myeloid leukemia | A leukemia that is located_in myeloid tissue. |
| Myeloid neoplasm | |
| Myeloproliferative neoplasm | |
| MYH-9 related disease | |
| Myofibrillar myopathy | Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins. |
| Myofibrillar myopathy 9 | |
| Myopathy | A muscular disease in which the muscle fibers do not function resulting in muscular weakness. |
| 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. |
| myostatin-related muscle hypertrophy | |
| Myotonia congenita | |
| 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. |
| N-acetylglutamate synthase deficiency | |
| Nager acrofacial dysostosis | |
| Nail disease | An integumentary system disease that is located_in nail. |
| nail-patella syndrome | OMIM mapping confirmed by DO. [SN]. |
| Narcolepsy | A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work. |
| 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. |
| 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. |
| 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. |
| Nemaline myopathy 3 | |
| Neonatal diabetes | |
| Neonatal period electroclinical syndrome | An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age. |
| Nephroblastoma | A kidney cancer that affects the kidneys and typically located_in children. |
| Nephrogenic diabetes insipidus | An impaired renal function disease characterized by a complete or partial resistance of the kidneys to vasopressin (ADH). |
| Nephrolithiasis | Formation of stones in the KIDNEY. |
| 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). |
| Nephrosis | |
| Nephrotic syndrome | Xref MGI. |
| Nerve compression syndrome | |
| Nervous system cancer | An organ system cancer located_in the nervous sytem that affects the central or peripheral nervous system. |
| Nervous system disease | A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. |
| Netherton syndrome | OMIM mapping confirmed by DO. [SN]. |
| Neural tube defect | |
| Neuroacanthocytosis | |
| 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). |
| Neurodegeneration with brain iron accumulation | |
| Neurodegeneration with brain iron accumulation 2b | |
| Neurodegeneration with brain iron accumulation 3 | |
| Neurodegeneration with brain iron accumulation 4 | |
| Neurodegeneration with brain iron accumulation 5 | |
| Neurodegenerative disease | A central nervous system disease that results_in the progressive deterioration of function or structure of neurons. |
| Neurofibromatosis | |
| Neuromuscular disease | A neuropathy that affect the nerves that control the voluntary muscles. |
| Neuromuscular junction disease | A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction. |
| 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. |
| Neuronal ceroid lipofuscinosis 1 | |
| Neuronal ceroid lipofuscinosis 10 | |
| Neuronal ceroid lipofuscinosis 11 | |
| Neuronal ceroid lipofuscinosis 3 | |
| Neuronal ceroid lipofuscinosis 4 | |
| Neuronal ceroid lipofuscinosis 5 | |
| Neuronal ceroid lipofuscinosis 6A | |
| Neuronal ceroid lipofuscinosis 7 | |
| Neuronal ceroid lipofuscinosis 8 | |
| Neuropathy | A nervous system disease that is located in the nervous system. |
| Neutropenia | |
| Nevoid basal cell carcinoma syndrome | OMIM mapping confirmed by DO. [SN]. |
| NGLY1-deficiency | |
| Nicolaides-Baraitser syndrome | |
| Niemann-Pick disease | OMIM mapping confirmed by DO. [SN]. |
| Night blindness | |
| Nijmegen breakage syndrome | OMIM mapping confirmed by DO. [SN]. |
| non-Hodgkin lymphoma | A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma. |
| non-Langerhans-cell histiocytosis | |
| Nonsyndromic congenital nail disorder | |
| Nonsyndromic congenital nail disorder 1 | |
| Nonsyndromic congenital nail disorder 4 | |
| 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. |
| Noonan syndrome | OMIM mapping confirmed by DO. [SN]. |
| Noonan syndrome with multiple lentigines | |
| Normocytic anemia | |
| 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. |
| Norum disease | OMIM mapping confirmed by DO. [SN]. |
| Notochordal cancer | An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord. |
| Nuclear type mitochondrial complex I deficiency | |
| Nuclear type mitochondrial complex I deficiency 20 | |
| 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. |
| 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). |
| 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. |
| Ocular albinism 1 | |
| Ocular cancer | A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye. |
| Ocular motility disease | |
| Oculocerebrorenal syndrome | OMIM mapping confirmed by DO. [SN]. |
| Oculocutaneous albinism | An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes. |
| Oculodentodigital dysplasia | NT MGI. |
| Oculopharyngeal muscular dystrophy | OMIM mapping confirmed by DO. [SN]. |
| Ohdo syndrome | |
| Ohdo syndrome, SBBYS variant | |
| 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. |
| 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. |
| Opiate dependence | A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance. |
| Opitz GBBB syndrome | |
| Optic atrophy | Xref MGI. |
| Optic atrophy 3 | |
| Optic nerve disease | A cranial nerve disease that is located_in the optic nerve. |
| Organ system benign neoplasm | A benign neoplasm that is classified by the organ system from which it is arising from. |
| Organ system cancer | A cancer that is classified based on the organ it starts in. |
| Organic acidemia | An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids. |
| Ornithine carbamoyltransferase deficiency | An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase. |
| 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. |
| 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. |
| 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. |
| Osteochondritis dissecans | An ischemic bone disease that results_in necrosis located_in epiphysis. |
| Osteochondrodysplasia | A bone development disease that results_in defective development of cartilage or bone. |
| Osteochondrosis | An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone. |
| Osteogenesis imperfecta | An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. |
| Osteoglophonic dysplasia | |
| Osteomyelitis | A bone inflammation disease that results_from infection located_in bone and located_in bone marrow. |
| Osteopetrosis | An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones. |
| 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. |
| osteoporosis-pseudoglioma syndrome | |
| Osteosclerosis | A bone remodeling disease that results_in abnormal elevated bone density or mass. |
| Otopalatodigital syndrome spectrum disorder | |
| 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 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. |
| Otospondylomegaepiphyseal dysplasia, autosomal dominant | |
| Otospondylomegaepiphyseal dysplasia, autosomal recessive | |
| Otulipenia | |
| Ovarian cancer | A female reproductive organ cancer that is located_in the ovary. |
| Ovarian disease | |
| Ovarian dysfunction | |
| Overnutrition | Updated outdated UMLS CUI. |
| Pachyonychia congenita | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| Paget's disease of bone 5 | |
| Pallister-Hall syndrome | OMIM mapping confirmed by DO. [SN]. |
| Palmoplantar keratoderma-deafness syndrome | |
| Palmoplantar keratosis | A keratosis characterized by abnormal thickening of the palms and the soles. |
| Panhypopituitarism | |
| 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. |
| Paraganglioma | Xref MGI. |
| Paramyotonia congenita of Von Eulenburg | |
| Paraplegia | |
| 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. |
| Parietal foramina | NT MGI. |
| 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. |
| Paroxysmal extreme pain disorder | |
| Paroxysmal nocturnal hemoglobinuria | NT MGI. |
| Partial lipodystrophy | |
| Partington syndrome | |
| Patau syndrome | OMIM mapping confirmed by DO. [LS]. |
| Patent ductus arteriosus | OMIM mapping confirmed by DO. [SN]. |
| Pathologic nystagmus | |
| Peeling skin syndrome | NT MGI. |
| Peeling skin syndrome 2 | |
| Pelizaeus-Merzbacher disease | OMIM mapping confirmed by DO. [SN]. |
| Pemphigus | |
| Pendred Syndrome | Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter. |
| 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. |
| Peripheral nervous system disease | A nervous system disease that affects the peripheral nervous system. |
| Peripheral nervous system neoplasm | A nervous system cancer that is located_in the peripheral nervous system. |
| 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. |
| Periventricular nodular heterotopia | A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain. |
| 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. |
| 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. |
| Peroxisomal biogenesis disorder | |
| Peroxisomal disease | An inherited metabolic disorder that involves peroxisome malfunction. |
| Perrault syndrome | |
| Perry syndrome | Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression. |
| 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. |
| 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. |
| 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. |
| Peutz-Jeghers syndrome | OMIM mapping confirmed by DO. [SN]. |
| Pfeiffer syndrome | An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. |
| Phagocyte bactericidal dysfunction | A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection. |
| Phelan-McDermid syndrome | |
| 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. |
| 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. |
| PHGDH deficiency | A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis. |
| Phosphoglycerate kinase 1 deficiency | |
| 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. |
| Phosphorus metabolism disease | |
| Physical disorder | A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. |
| Physical urticaria | An urticaria induced by external physical influences. |
| Pick's disease | OMIM mapping confirmed by DO. [SN]. |
| Piebaldism | OMIM mapping confirmed by DO. [SN]. |
| Pigmentation disease | |
| Pilomatrixoma | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| Pituitary adenoma | |
| Pituitary gland benign neoplasm | |
| Pituitary gland disease | An endocrine system disease that is located_in the pituitary gland. |
| Plasma protein metabolism disease | An inherited metabolic disorder that involves plasma protein metabolism malfunction. |
| Plasminogen deficiency type I | |
| platelet-type bleeding disorder 11 | |
| 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. |
| Pneumothorax | |
| Poikiloderma with neutropenia | |
| Polyarteritis nodosa | |
| 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. |
| 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. |
| 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. |
| Polycythemia vera | |
| Polygenic disease | |
| Polymicrogyria | A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain. |
| Pontocerebellar hypoplasia | |
| Popliteal pterygium syndrome | NT MGI. |
| Porphyria | An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. |
| 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. |
| Potocki-Lupski syndrome | |
| Potocki-Shaffer syndrome | |
| Prader-Willi syndrome | OMIM mapping confirmed by DO. [SN]. |
| Primary autosomal recessive microcephaly | |
| 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. |
| 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. |
| Primary cutaneous amyloidosis | An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis. |
| Primary cutaneous T-cell non-Hodgkin lymphoma | |
| Primary hyperaldosteronism | |
| Primary hyperoxaluria | OMIM mapping confirmed by DO. [SN]. |
| Primary hypoalphalipoproteinemia 1 | |
| Primary hypomagnesemia | |
| 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. |
| Primary microcephaly | |
| Primary ovarian insufficiency | |
| Primary ovarian insufficiency 1 | |
| Primary polycythemia | |
| 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. |
| Primary spontaneous pneumothorax | |
| 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) |
| Progeria | OMIM mapping confirmed by DO. [SN]. |
| Progeroid syndrome | |
| Progressive bulbar palsy | |
| Progressive familial heart block | |
| Progressive familial intrahepatic cholestasis | |
| Progressive myoclonus epilepsy | |
| Progressive myoclonus epilepsy 1A | |
| Progressive myoclonus epilepsy 1B | |
| Progressive myoclonus epilepsy 4 | |
| Progressive osseous heteroplasia | |
| Progressive pseudorheumatoid arthropathy of childhood | |
| 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. |
| Prolactinoma | OMIM mapping confirmed by DO. [SN]. |
| Prolidase deficiency | |
| Propionic acidemia | An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy. |
| Prostate cancer | A male reproductive organ cancer that is located_in the prostate. |
| Prostate disease | |
| proteasome-associated autoinflammatory syndrome 1 | |
| Protein C deficiency | |
| Protein S deficiency | |
| Proteinuria | |
| proteosome-associated autoinflammatory syndrome | |
| Proteus syndrome | OMIM mapping confirmed by DO. [SN]. |
| Prothrombin deficiency | OMIM mapping confirmed by DO. [SN]. |
| Prothrombin thrombophilia | |
| Pseudoachondroplasia | An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism. |
| Pseudohermaphroditism | |
| 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. |
| Psoriatic arthritis | A syndrome that occurs in humans with psoriasis who also experience symptoms similar to arthritis. |
| Psychotic disorder | A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality. |
| 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. |
| Pulmonary alveolar microlithiasis | OMIM mapping confirmed by DO. [SN]. |
| 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]. |
| Pure red-cell aplasia | |
| 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. |
| purine-pyrimidine metabolic disorder | An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism. |
| Pyridoxamine 5'-phosphate oxidase deficiency | |
| pyridoxine-dependent epilepsy | |
| Pyrimidine metabolic disorder | |
| Pyruvate carboxylase deficiency disease | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| Pyruvate kinase deficiency of red cells | |
| Rapadilino syndrome | |
| RASopathy | |
| Refractive error | |
| Refsum disease | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| Renal coloboma syndrome | Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia. |
| Renal tubular transport disease | |
| 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. |
| Reproductive organ cancer | An organ system cancer that is manifested in the reproductive organs. |
| Reproductive system disease | A disease of anatomical entity that is located_in reproductive system organs. |
| Respiratory system cancer | An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract. |
| Respiratory system disease | A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm. |
| 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. |
| 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. |
| Retinal cancer | |
| Retinal cell cancer | A malignant neoplasm that derives_from the retina. |
| Retinal degeneration | |
| Retinal disease | An eye disease that is located_in the retina. |
| Retinal vascular disease | |
| 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. |
| Retinoblastoma | A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina. |
| Retinoschisis | |
| 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. |
| Rheumatic disease | |
| Rheumatoid arthritis | An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint. |
| 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. |
| 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. |
| Riley-Day syndrome | OMIM mapping confirmed by DO. [SN]. |
| RNASET2-deficient cystic leukoencephalopathy | |
| Roberts syndrome | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| Rosacea | |
| Rothmund-Thomson syndrome | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| SADDAN | |
| 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. |
| Sandhoff disease | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| SATB2-associated syndrome | |
| Saul-Wilson syndrome | |
| scalp-ear-nipple syndrome | |
| 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. |
| Schindler disease | |
| Schinzel Giedion syndrome | |
| Schizoaffective disorder | A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact 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. |
| Schnitzler syndrome | |
| Schuurs-Hoeijmakers Syndrome | |
| Schwannomatosis | |
| Schwartz-Jampel syndrome 1 | |
| Scleroderma | A rheumatic disease and collagen disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs. |
| Seasonal affective disorder | A mental depression that involves presentation of depressive symptoms only during a specific season of the year. |
| Sebaceous gland disease | A skin disease that is located_in the sebaceous gland. |
| Seborrheic keratosis | 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. |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | |
| Sensory system cancer | A nervous system cancer that is located_in the sensory system. |
| 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). |
| Sepiapterin reductase deficiency | |
| Septooptic dysplasia | |
| Serine deficiency | An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine. |
| 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. |
| Severe congenital encephalopathy due to MECP2 mutation | |
| Severe congenital neutropenia | A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections. |
| 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. |
| 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. |
| SHORT syndrome | |
| 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. |
| Sialuria | A lysosomal storage disease characterized by increased sialic acid in the urine. |
| Sick sinus syndrome | Xref MGI. |
| Sickle cell disease | disease cluster belonging to disease group other |
| Sideroblastic anemia | An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). |
| Sideroblastic anemia 1 | |
| Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | |
| Silver-Russell syndrome | OMIM mapping confirmed by DO. [LS]. |
| Simpson-Golabi-Behmel syndrome type 1 | |
| 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. |
| Sitosterolemia | |
| 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. |
| Sjogren-Larsson syndrome | OMIM mapping confirmed by DO. [LS]. |
| Skin benign neoplasm | |
| Skin cancer | An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells. |
| Skin carcinoma | A skin cancer that is located_in tissues of the skin and develops from epithelial cells. |
| Skin disease | An integumentary system disease that is located_in skin. |
| Sleep disorder | A disease of mental health that involves disruption of sleep patterns. |
| Sly syndrome | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. |
| Smith-Lemli-Opitz syndrome | OMIM mapping confirmed by DO. [LS]. |
| 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. |
| 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. |
| 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. |
| Specific developmental disorder | A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. |
| Speech disorder | A communication disorder that involves difficulty with the act of speech production. |
| speech-language disorder-1 | |
| Spermatogenic failure | |
| Spermatogenic failure 5 | |
| Spermatogenic failure 9 | |
| Sphingolipidosis | |
| Spina bifida | |
| Spinal disease | |
| Spinal muscular atrophy | A motor neuron disease that is a degenerative neuromuscular disease characterized by motor neuron degeration. |
| Spinal muscular atrophy with lower extremity predominant | |
| Spinal muscular atrophy with progressive myoclonic epilepsy | |
| 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. |
| Spinocerebellar ataxia type 2 | |
| Spinocerebellar ataxia type 36 | |
| 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. |
| Spinocerebellar ataxia with axonal neuropathy 2 | |
| Spondylocarpotarsal synostosis 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. |
| Spondyloepimetaphyseal dysplasia | An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis. |
| Spondyloepiphyseal dysplasia | |
| Spondyloepiphyseal dysplasia congenita | OMIM mapping confirmed by DO. [SN]. |
| Spondyloepiphyseal dysplasia tarda | |
| 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. |
| Spondyloperipheral dysplasia | |
| Squamous cell carcinoma | A carcinoma that derives_from squamous epithelial cells. |
| Squamous cell neoplasm | A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities. |
| Stargardt disease | An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness. |
| 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). |
| Steatotic liver disease | |
| Steroid inherited metabolic disorder | A lipid metabolism disorder that involves defects in steroid metabolism. |
| Stevens-Johnson syndrome | |
| Stickler syndrome | OMIM mapping confirmed by DO. [SN]. |
| STING-associated vasculopathy with onset in infancy | |
| Stomach cancer | A gastrointestinal system cancer that is located_in the stomach. |
| Stomach disease | A gastrointestinal system disease that is located_in the stomach. |
| Stormorken syndrome | |
| Strabismus | |
| Stromal dystrophy | |
| 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. |
| Subcortical band heterotopia | |
| Substance abuse | A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning. |
| 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. |
| 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. |
| 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. |
| Supravalvular aortic stenosis | |
| Sweat gland disease | |
| Syndrome | A disease comprised of a group of signs and symptoms that occur together and characterize a particular abnormality. |
| Syndromic intellectual disability | An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms. |
| Syndromic microphthalmia | |
| Syndromic microphthalmia 2 | |
| Syndromic microphthalmia 3 | |
| Syndromic X-linked intellectual disability | |
| Syndromic X-linked intellectual disability Lubs type | |
| Syndromic X-linked intellectual disability Siderius type | |
| Syndromic X-linked intellectual disability Snyder type | |
| Synostosis | A dysostosis that results_in abnormal fusing of adjacent bones. |
| Synucleinopathy | A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. |
| 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. |
| Systemic mastocytosis | |
| 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. |
| 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. |
| T cell deficiency | |
| T-cell immunodeficiency, congenital alopecia, and nail dystrophy | |
| T-cell non-Hodgkin lymphoma | |
| Tangier disease | OMIM mapping confirmed by DO. [LS]. |
| 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. |
| Tatton-Brown-Rahman syndrome | |
| Tauopathy | Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain. |
| Tay-Sachs disease | OMIM mapping confirmed by DO. [SN]. |
| Teeth hard tissue disease | |
| Temporal lobe epilepsy | |
| Terminal osseous dysplasia | |
| Tetraamelia syndrome | |
| Thalassemia | OMIM mapping confirmed by DO. [LS]. |
| Thanatophoric dysplasia | An osteochondrodysplasia that results_in short arms and legs with excess folds of skin. |
| 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. |
| Thiopurine S-methyltransferase deficiency | |
| Thoracic aortic aneurysm | An aortic aneurysm that is located_in the thoracic aorta. |
| 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. |
| Thoracic disease | A disease of anatomical entity that is located_in the thoracic cavity. |
| thrombocytopenia-absent radius syndrome | OMIM mapping confirmed by DO. [LS]. |
| Thrombophilia | OMIM mapping confirmed by DO. [LS]. |
| Thrombotic thrombocytopenic purpura | |
| Thyroid cancer | An endocrine gland cancer located_in the thryoid gland located in the neck below the thyroid cartilage. |
| Thyroid gland carcinoma | |
| Thyroid gland disease | An endocrine system disease that is located_in the thyroid. |
| Thyroid gland medullary carcinoma | |
| Tibial muscular dystrophy | |
| 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. |
| 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. |
| 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. |
| Tooth disease | |
| Torrance type platyspondylic dysplasia | |
| Torsion dystonia 6 | |
| 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. |
| 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. |
| Transient myeloproliferative syndrome | |
| 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. |
| Treacher Collins syndrome | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| 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. |
| Trichothiodystrophy | |
| Trimethylaminuria | Increased concentration of trimethylamine in the urine. |
| 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. |
| triple-A syndrome | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| Tuberous sclerosis | OMIM mapping confirmed by DO. [LS]. |
| Turner syndrome | No OMIM mapping, confirmed by DO. [LS]. |
| 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. |
| Type 2 diabetes mellitus | A diabetes mellitus that involves high blood glucose resulting from cells fail to use insulin properly. |
| Tyrosinemia | An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine. |
| Ulcerative colitis | A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores. |
| Unverricht-Lundborg syndrome | OMIM mapping confirmed by DO. [LS]. |
| 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. |
| Ureteral disease | A urinary system disease that is located_in the ureter. |
| Urinary bladder cancer | An urinary system cancer that results_in malignant growth located_in the urinary bladder. |
| Urinary system cancer | An organ system cancer that is located_in the kidneys, ureteres, bladder or urethra. |
| Urinary system disease | A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra. |
| 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. |
| 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. |
| Usher syndrome | A syndrome characterized by a combination of hearing loss and visual impairment. |
| UV-sensitive syndrome | |
| Uveal disease | |
| 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. |
| Variable age at onset electroclinical syndrome | |
| 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. |
| Vasculitis | A vascular disease that is characterized by inflammation of the blood vessels. |
| Vein disease | A vascular disease that is located_in a vein. |
| 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. |
| Vesiculobullous skin disease | |
| Vestibular schwannomatosis | |
| VEXAS syndrome | |
| Vibratory urticaria | |
| 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. |
| Viral infectious disease | A disease by infectious agent that results_in infection, has_material_basis_in Viruses. |
| Visceral heterotaxy | A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen. |
| Vitamin B12 deficiency | A vitamin metabolic disorder that results from low blood levels of vitamin B12. |
| Vitamin D-dependent rickets | |
| Vitamin metabolic disorder | An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism. |
| 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. |
| 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. |
| Vohwinkel syndrome | |
| Von Hippel-Lindau disease | OMIM mapping confirmed by DO. [LS]. |
| 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. |
| Waardenburg syndrome | |
| 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. |
| Walker-Warburg syndrome | OMIM mapping confirmed by DO. [SN]. |
| Warfarin resistance | |
| Warfarin sensitivity | |
| Warsaw breakage syndrome | |
| Weaver syndrome | OMIM mapping confirmed by DO. [LS]. |
| Weill-Marchesani syndrome | An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. |
| Werner syndrome | OMIM mapping confirmed by DO. [LS]. |
| Weyers acrofacial dysostosis | |
| White sponge nevus | |
| White-Sutton syndrome | |
| Wiedemann-Rautenstrauch syndrome | |
| Williams-Beuren syndrome | OMIM mapping confirmed by DO. [LS]. |
| Wilson disease | OMIM mapping confirmed by DO. [SN]. |
| Winchester syndrome | |
| Wiskott-Aldrich syndrome | OMIM mapping confirmed by DO. [SN]. |
| Wolf-Hirschhorn syndrome | OMIM mapping confirmed by DO. [LS]. |
| 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. |
| 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). |
| 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. |
| X-linked Aarskog syndrome | |
| X-linked adrenal hypoplasia congenita | |
| X-linked agammaglobulinemia | |
| X-linked cardiac valvular dysplasia | |
| X-linked chondrodysplasia punctata 1 | |
| X-linked chondrodysplasia punctata 2 | |
| X-linked dilated cardiomyopathy | disease cluster belonging to disease group cardiovascular |
| X-linked dominant disease | |
| X-linked dystonia-parkinsonism | |
| X-linked hereditary ataxia | |
| X-linked hyper IgM syndrome | |
| X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia | |
| X-linked intellectual developmental disorder 109 | |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | |
| X-linked juvenile retinoschisis 1 | |
| X-linked lissencephaly 2 | |
| X-linked monogenic disease | |
| X-linked recessive disease | |
| X-linked severe combined immunodeficiency | |
| X-linked sideroblastic anemia with ataxia | OMIM mapping confirmed by DO. [SN]. |
| X-linked spinal muscular atrophy 2 | |
| X-linked spondyloepiphyseal dysplasia tarda | |
| X-linked thrombocytopenia with beta-thalassemia | |
| 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. |
| Xanthomatosis | A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts. |
| 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. |
| Xia-Gibbs Syndrome | |
| 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. |
