| Description | Gene-disease co-occurrence scores from text-mining biomedical abstracts |
| Measurement | association by text-mining |
| Association | gene-disease associations from automated text-mining of biomedical literature |
| Category | disease or phenotype associations |
| Resource | DISEASES |
| Citation(s) | |
| Last Updated | 2015 Feb 02 |
| Stats |
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Attribute Similarity
Gene Attribute
Gene Similarity
4628 sets of genes co-occuring with diseases in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
| Gene Set | Description |
|---|---|
| breast lipoma | |
| acute inferolateral myocardial infarction | |
| juvenile absence epilepsy | An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures. |
| dysgerminoma of ovary | A dysgerminoma that is located_in the ovary. |
| aggressive systemic mastocytosis | |
| neurofibromatosis | The presence of multiple cutaneous neurofibromas. |
| hairy tongue | |
| central nervous system lymphoma | A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system. |
| accommodative spasm | |
| pulmonary edema | |
| endometrial stromal sarcoma | |
| acute necrotizing encephalitis | |
| late congenital syphilis | A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities. |
| occupational dermatitis | |
| kidney hemangiopericytoma | A kidney cancer which is manifested in the kidney. |
| pseudohypoaldosteronism | |
| methylmalonic acidemia | An organic acidemia that involves an accumulation of methylmalonic acid in the blood. |
| pancreatic mucinous cystadenoma | |
| choline deficiency disease | |
| tetralogy of fallot | OMIM mapping confirmed by DO. [LS]. |
| primary hyperparathyroidism | Xref MGI. |
| sex differentiation disease | |
| breast rhabdomyosarcoma | |
| thoracic benign neoplasm | An organ system benign neoplam that is located_in the thoracic cavity. |
| chronic gonococcal salpingitis | |
| neurotic excoriation | |
| adenosquamous gallbladder carcinoma | A gallbladder carcinoma that derives_from squamous cells and gland-like cells. |
| arteriosclerosis obliterans | |
| secondary syphilis | A syphilis that is characterized as the second stage of syphilis which appears from 2 to 6 months after primary infection, and is marked by lesions especially in the skin but also in organs and tissues, and that lasts from 3 to 12 weeks. |
| 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 |
| blood group incompatibility | |
| causalgia | |
| glaucomatocyclitic crisis | |
| central nervous system tuberculosis | An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord. |
| kwashiorkor | |
| atypical autism | An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism. |
| spinal cord glioma | A spinal cancer that is located_in the spinal cord and has_material_basis_in glial cells. |
| scleromalacia perforans | |
| neurilemmomatosis | |
| retinal artery occlusion | |
| 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. |
| vaginal tubulovillous adenoma | |
| childhood medulloblastoma | |
| urethral syndrome | |
| mucopolysaccharidosis ii | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase. |
| acute salpingo-oophoritis | |
| rheumatoid arthritis | An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint. |
| wound botulism | A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted_by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins. |
| spontaneous ocular nystagmus | |
| mhc class ii deficiency | OMIM mapping confirmed by DO. [SN]. |
| dermatophytosis | A cutaneous mycosis that results_in fungal infection located_in scalp, located_in glabrous skin, or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which have the ability to utilize keratin as a nutrient source. |
| bone osteosarcoma | |
| ureter small cell carcinoma | |
| brachial plexus neuropathy | |
| specific phobia | A phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations. |
| bronchopneumonia | A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses. |
| aphthous stomatitis | A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers. |
| splenic tuberculosis | An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen. |
| t lymphocyte deficiency | |
| melanotic medulloblastoma | |
| acanthosis nigricans | OMIM mapping confirmed by DO. [SN]. |
| pityriasis versicolor | A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales. |
| acute inflammation of lacrimal passage | |
| anemia | A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin. |
| pilar sheath acanthoma | |
| 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. |
| autoimmune polyendocrine syndrome type 2 | An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene. |
| 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. |
| vulvar seborrheic keratosis | |
| verrucous carcinoma | A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium. |
| malignant renovascular hypertension | |
| skin melanoma | A skin cancer that has_material_basis_in melanocytes. |
| pigmentation disease | |
| 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. |
| chediak-higashi syndrome | OMIM mapping confirmed by DO. [SN]. |
| mucopolysaccharidosis vi | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase. |
| seminal vesicle tumor | |
| cystic fibrosis | An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs. |
| atrophic muscular disease | |
| fanconi's anemia | A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. |
| steatitis | |
| 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. |
| kidney hypertrophy | |
| papillary carcinoma | A carcinoma that is derived_from epithelial cells with finger like projections. |
| larynx cancer | A respiratory system cancer that is located_in the larynx. |
| stereotypic movement disorder | A specific developmental disorder that is characterized by repeated, rhythmic, purposeless movements or activities such as head banging, nail biting, or body rocking. |
| thanatophoric dysplasia | An osteochondrodysplasia that results_in short arms and legs with excess folds of skin. |
| malignant sertoli cell tumor | |
| toxic pneumonitis | A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects. |
| flinders island spotted fever | A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy. |
| 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. |
| ovarian cancer | A female reproductive organ cancer that is located_in the ovary. |
| infarct of liver | |
| tyrosinemia type i | A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body. |
| anaplastic large cell lymphoma | A non-Hodgkin lymphoma involving aberrant T-cells. |
| syndactyly | A synostosis that results_in the fusion of two or more digits. |
| 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. |
| nodular medulloblastoma | |
| pediculus humanus capitis infestation | A lice infestation that involves colonization of the hair and skin by the parasitic insect Pediculus humanus capitis, which feeds on blood several times daily and resides close to the scalp to maintain its body temperature. The symptoms include tickling feeling of something moving in the hair, itching, caused by an allergic reaction to louse saliva, and irritability. |
| infantile onset spinocerebellar ataxia | |
| indolent systemic mastocytosis | |
| liposarcoma | A malignant lipomatous neoplasm that arises in fat cells in deep soft tissue retroperitoneum.|A malignant tumor derived from primitive or embryonal lipoblastic cells. It may be composed of well-differentiated fat cells or may be dedifferentiated: myxoid (LIPOSARCOMA, MYXOID), round-celled, or pleomorphic, usually in association with a rich network of capillaries. Recurrences are common and dedifferentiated liposarcomas metastasize to the lungs or serosal surfaces. (From Dorland, 27th ed; Stedman, 25th ed)|A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Representative morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid/round cell liposarcoma. The metastatic potential is higher in less differentiated tumors. |
| periodontitis | Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology) |
| hyperimmunoglobulin syndrome | |
| chronic eosinophilic pneumonia | An eosinophilic pneumonia which slowly progresses over weeks to months. Life-threatening shortness of breath can develop if the condition is not treated. Individuals are often diagnosed with asthma before the advent of this disease. |
| epidural abscess | Epidural abscess is a CNS abscess characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine. The abscess causes swelling in the area. Epidural abscess is a rare disorder caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges). This infectious disease is called an intracranial epidural abscess if it is inside the skull area, or a spinal epidural abscess if it is found in the spine area. Nine out of 10 cases are located in the spine. |
| rectosigmoid junction cancer | |
| multifocal osteogenic sarcoma | |
| reproductive system disease | A disease of anatomical entity that is located_in reproductive system organs. |
| pyuria | |
| irritable bowel syndrome | A disorder with chronic or recurrent colonic symptoms without a clearcut etiology. This condition is characterized by chronic or recurrent ABDOMINAL PAIN, bloating, MUCUS in FECES, and an erratic disturbance of DEFECATION.|A syndrome that is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause. |
| bipolar disorder | A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence.|A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence (MeSH). |
| bone marrow cancer | A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow. |
| hereditary sensory neuropathy | |
| collagen disease | |
| chagas disease | A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis. |
| lichen planus | A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes. The cause is not known. |
| acanthocephaliasis | A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools. |
| rh isoimmunization | |
| small intestine carcinoma | A small intestine cancer that develops from epithelial cells and is located_in the small intestine. |
| paranasal sinus neoplasm | |
| acrodysostosis | A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency. |
| 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. |
| tinea pedis | A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot. |
| colon adenocarcinoma | A colon carcinoma that derives_from epithelial cells of glandular origin. |
| lung sarcoma | A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin. |
| acute conjunctivitis | |
| papillary thymic adenocarcinoma | |
| parotitis | A parotid disease characterized by the inflammation of one or both parotid glands. |
| leopard syndrome | OMIM mapping confirmed by DO. [SN]. |
| cerebellar disease | |
| neonatal candidiasis | A candidiasis that involves fungal infection in neonates caused by Candida species. Low birthweight and age, prolonged intravascular catheterization and the use of antibiotic drugs are the principle predisposing conditions for systemic candidiasis in neonates. |
| 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. |
| parotid disease | |
| nasal cavity squamous cell carcinoma | A nasal cavity carcinoma that has_material_basis_in squamous cells. |
| sinusitis | A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip. |
| choriocarcinoma of the testis | |
| granulomatous hepatitis | |
| congenital disorder of glycosylation | A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids. |
| progeria | OMIM mapping confirmed by DO. [SN]. |
| uveal melanoma | A uveal cancer that has_material_basis_in uvea pigment cells. |
| phacolytic glaucoma | |
| cicatricial pemphigoid | A bullous skin disease characterized by skin lesions and scaring and located_in mucous membranes and located_in skin. |
| miller fisher syndrome | A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia. |
| islet cell tumor | A pancreatic cancer that is located_in the pancreatic islet cells. |
| spastic quadriplegia | A spastic cerebral palsy that affects all four limbs. The individuals have difficulty with walking and talking. |
| eye disease | An eye and adnexa disease that is located_in the eye. |
| 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. |
| osmotic diarrhea | Osmotic diarrhea is a dirrhea where diarrhea occurs when too much water is drawn into the bowels. This can be the result of maldigestion (e.g., pancreatic disease or Coeliac disease), in which the nutrients are left in the lumen to pull in water. Osmotic diarrhea can also be caused by osmotic laxatives (which work to alleviate constipation by drawing water into the bowels). In healthy individuals, too much magnesium or vitamin C or undigested lactose can produce osmotic diarrhea and distention of the bowel. A person who does not have lactose intolerance can have difficulty absorbing lactose after an extraordinarily high intake of dairy products. |
| chronic purulent otitis media | A suppurative otitis media which is persistent and long-lasting. |
| hyperlipoproteinemia type iii | |
| leukocyte-adhesion deficiency syndrome | |
| phlyctenulosis | |
| bladder urothelial papillary carcinoma | |
| funisitis | A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord. |
| myelodysplastic myeloproliferative cancer | A bone marrow cancer that results_in the overproduction of white blood cells. |
| cholesteatoma of middle ear | |
| inflammatory and toxic neuropathy | |
| angiokeratoma of fordyce | |
| glomeruloid hemangioma | |
| aortic disease | An artery disease that is characterized by degeneration of the cells composing the aortic wall. |
| gestational choriocarcinoma | |
| sweat gland carcinoma | |
| malignant histiocytosis | |
| communicating hydrocephalus | |
| cerebral angioma | |
| bullous keratopathy | |
| ocular motility disease | |
| brain stem infarction | |
| cerebral primitive neuroectodermal tumor | |
| chorea-acanthocytosis | |
| necrotizing gastritis | |
| carotid stenosis | |
| spindle cell liposarcoma | |
| periostitis | |
| 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. |
| mevalonic aciduria | OMIM mapping confirmed by DO. [SN]. |
| lipodystrophy | |
| typhoid fever | A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia. |
| cerebral palsy | A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance. |
| pituitary infarct | |
| orofacial cleft | |
| skull base chordoma | A chordoma that is located_in the skull base. |
| endometrial adenocarcinoma | An endometrial carcinoma that derives_from epithelial cells of glandular origin. |
| euthyroid sick syndrome | |
| mucinous tubular and spindle renal cell carcinoma | |
| hypertrophy of breast | |
| gastric mucosal hypertrophy | OMIM mapping confirmed by DO. [SN]. |
| conjunctival cancer | |
| myocardial stunning | |
| smooth muscle tumor | |
| pancreas adenocarcinoma | A pancreatic carcinoma that derives_from epithelial cells of glandular origin. |
| prostate cancer | A male reproductive organ cancer that is located_in the prostate. |
| cranial nerve malignant neoplasm | |
| pulmonary embolism | An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot. |
| anal canal cancer | A large intestine cancer that is located_in the terminal part of the large intestine. |
| bacterial esophagitis | |
| malignant leydig cell tumor | |
| sneddon syndrome | |
| dyshidrosis | |
| polycythemia vera | |
| tinea corporis | A dermatophytosis that results_in fungal infection located_in skin, limited to the stratum corneum of the epidermis, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, and has_symptom red colored skin rash. The border of the rash lesions look scaly. |
| facial hemiatrophy | OMIM mapping confirmed by DO. [SN]. |
| bladder adenocarcinoma | A bladder carcinoma that derives_from epithelial cells of glandular origin. |
| liver leiomyosarcoma | A leiomyosarcoma and sarcoma of liver that is located_in the liver. |
| 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. |
| adie syndrome | A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon. |
| leukocoria | |
| pleomorphic adenoma | A gastrointestinal benign neoplasm that is a located_in the salivary glands. |
| intestinal atresia | |
| pthirus pubis infestation | A lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. The symptoms include itching in the pubic and groin area. Intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin. |
| leukopenia | decrease in no. of leukocytes |
| bjornstad syndrome | OMIM mapping confirmed by DO. [SN]. |
| calcific tendinitis | |
| hemoglobin d disease | |
| functional diarrhea | |
| chronic monocytic leukemia | |
| ovary serous adenocarcinoma | An ovary adenocarcinoma that derives_from the lining of a cavity that produces a serum-like fluid (a serous cavity). |
| relapsing fever | A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia, which is transmitted_by tick or transmitted_by body louse. |
| purulent acute otitis media | A suppurative otitis media with sudden onset and a short course. |
| neurofibroma | A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands. (From Adams et al., Principles of Neurology, 6th ed, p1016)|An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors.|A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands (MeSH). |
| 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. |
| haemonchiasis | A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue. |
| supratentorial cancer | A brain cancer that is located_in the supratentorial region. |
| verruciform xanthoma of skin | |
| clear cell ependymoma | |
| branchiootorenal syndrome | OMIM mapping confirmed by DO. [SN]. |
| anal squamous cell carcinoma | An anal carcinoma that arises near the squamocolumnar junction. |
| monodermal teratoma | |
| spindle cell lipoma | A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men. |
| benign perivascular tumor | |
| chronic wasting disease | |
| polyradiculoneuropathy | |
| lateral sclerosis | A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs. |
| keratitis | |
| ureter urothelial papilloma | |
| fallopian tube endometrioid adenocarcinoma | |
| systolic heart failure | |
| sternum cancer | A bone cancer and neoplasm of chest wall and sternal disorder that is located_in the sternum. |
| perinatal necrotizing enterocolitis | |
| kidney sarcoma | A kidney cancer that is located_in the kidney's connective tissue. |
| tongue cancer | |
| premature ovarian failure | An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40. |
| uveoparotid fever | |
| invasive bladder transitional cell carcinoma | |
| subglottis neoplasm | |
| adult t-cell leukemia | A T-cell leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions. |
| glycogen storage disease xv | |
| tuberculous empyema | A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula. |
| tenosynovitis | |
| jejunal cancer | |
| aleukemic leukemia cutis | |
| oxyphilic adenoma | |
| mixed type thymoma | |
| west nile encephalitis | A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in West Nile virus, which is transmitted_by Culex, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis. |
| melancholia | |
| leiomyoma | A cell type benign neoplasm that is a benign tumor of smooth muscle cells. |
| peripheral t-cell lymphoma | A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus. |
| breast lobular carcinoma | A breast carcinoma that derives_from breast lobules (milk glands). |
| oral submucous fibrosis | |
| kleine-levin syndrome | A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior. |
| subglottis cancer | |
| paranasal sinus disease | |
| breast fibrosarcoma | |
| body dysmorphic disorder | A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image). |
| birt-hogg-dube syndrome | OMIM mapping confirmed by DO. [SN]. |
| mitochondrial encephalomyopathy | |
| 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. |
| adnexa disease | |
| arthritis | Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints. |
| retroperitoneum carcinoma | |
| plasmodium ovale malaria | A malaria characaterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously. |
| duodenal gastrinoma | |
| pityriasis rosea | |
| 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). |
| anus disease | |
| familial lipoprotein lipase deficiency | OMIM mapping confirmed by DO. [SN]. |
| congenital disorder of glycosylation type ii | A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain. |
| premature menopause | |
| lymph node disease | |
| neuronitis | |
| 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. |
| scleroderma | A rheumatic disease and collagen disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs. |
| hereditary renal cell carcinoma | |
| 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. |
| lymph node tuberculosis | An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough. |
| fibrogenesis imperfecta ossium | A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures. |
| bullous retinoschisis | |
| borderline glaucoma | |
| petrous apex meningioma | |
| clear cell cystadenofibroma | |
| transvestism | |
| arteriosclerotic cardiovascular disease | |
| megakaryocytic leukemia | A leukemia that derives_from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers. |
| malignant otitis externa | A otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes. |
| liver neoplasm | |
| choledocholithiasis | |
| hemoglobin c disease | |
| nephrogenic diabetes insipidus | An impaired renal function disease characterized by a complete or partial resistance of the kidneys to vasopressin (ADH). |
| extrahepatic cholestasis | |
| pilocytic astrocytoma | An astrocytoma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain. |
| adenosquamous carcinoma | A squamous cell carcinoma that contains squamous cells and gland-like cells. |
| small cell osteogenic sarcoma | |
| exfoliation syndrome | OMIM mapping confirmed by DO. [SN]. |
| endometriosis of ovary | |
| choroideremia | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| aortic aneurysm | An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size. |
| coccidiosis | A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection. |
| orbit rhabdomyosarcoma | |
| ovarian serous cystadenofibroma | |
| proctitis | Proctitis is an inflammation of the rectum. |
| muscular dystrophy | A myopathy is characterized by progressive skeletal muscle weakness degeneration. |
| autonomic peripheral neuropathy | |
| serous cystadenocarcinoma | A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. |
| noonan syndrome | OMIM mapping confirmed by DO. [SN]. |
| megacolon | A colonic disease that is characterized by an abnormal dilation of the colon. |
| microcephaly | OMIM mapping confirmed by DO. [SN]. |
| familial hypertriglyceridemia | A lipid metabolism disorder characterized by elevated triglyceride levels as a result of excess hepatic production of VLDL or heterozygous LPL deficiency. |
| duodenogastric reflux | |
| alpers syndrome | A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions. |
| ossifying fibromyxoid tumor | |
| myotonic disease | A muscular dystrophy that is characterized by progressive muscle wasting and weakness. |
| propionic acidemia | An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy. |
| papillary thyroid carcinoma | A thyroid carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer. |
| neurodermatitis | |
| 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). |
| extragonadal germ cell cancer | A germ cell cancer that derives_from germ cells that are found in areas of the body other than the ovary or testicle. The tumors originate in the sperm forming cells in the testicles or egg producing cells in the ovary. |
| acquired thrombocytopenia | |
| atherosclerosis | A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA. |
| cerebral sarcoidosis | |
| l-2-hydroxyglutaric aciduria | An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia). |
| sciatic neuropathy | PRISM. |
| chorioretinal scar | |
| 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. |
| aortitis | |
| ganglioglioma | |
| rubeosis iridis | |
| acinar cell cystadenocarcinoma | |
| uterine fibroid | A benign tumor derived from smooth muscle tissue, also known as a fibroid tumor. They rarely occur outside of the UTERUS and the GASTROINTESTINAL TRACT but can occur in the SKIN and SUBCUTANEOUS TISSUE, probably arising from the smooth muscle of small blood vessels in these tissues.|A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.|An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain. |
| liver rhabdomyosarcoma | A rhabdomyosarcoma and sarcoma of liver that are located_in the liver. |
| sickle cell anemia | OMIM mapping confirmed by DO. [LS]. |
| cholesterol ester storage disease | |
| chickenpox | A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters. |
| benign familial infantile epilepsy | An infancy electroclinical syndrome that is characterized by convulsions, with onset at age 3 to 12 months. |
| urethral intrinsic sphincter deficiency | |
| hard palate cancer | |
| extraosseous chondrosarcoma | A chondrosarcoma that is located_in exclusively soft tissue. |
| giardiasis | A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting. |
| brown-vialetto-van laere syndrome | OMIM mapping confirmed by DO. [SN]. |
| hemangioma of intra-abdominal structure | |
| hypophosphatasia | OMIM mapping confirmed by DO. [SN]. |
| trachea adenoid cystic carcinoma | |
| african histoplasmosis | A histoplasmosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of nodules, results_in_formation_of ulcers and results_in_formation_of osteolytic bone lesions. |
| 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. |
| thrombotic thrombocytopenic purpura | |
| kidney failure | A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood. |
| congenital intrinsic factor deficiency | A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption. |
| retinopathy of prematurity | |
| iga glomerulonephritis | A chronic form of glomerulonephritis characterized by deposits of predominantly immunoglobulin A in the mesangial area (glomerular mesangium). Deposits of complement C3 and immunoglobulin G are also often found. Clinical features may progress from asymptomatic hematuria to end-stage kidney disease. |
| malignant ovarian cyst | |
| constipation | |
| plica syndrome | |
| vesiculitis | |
| peripheral nervous system neoplasm | A nervous system cancer that is located_in the peripheral nervous system. |
| extraskeletal myxoid chondrosarcoma | An extraosseous chondrosarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage and is characterized by a marked abundance of extracellular mucoid (myxoid) matrix. |
| prostate lymphoma | |
| malignant ovarian germ cell neoplasm | |
| otitis externa | An external ear disease that involves inflammation of the outer ear and ear canal. It can be caused by active bacterial or fungal infection. |
| malignant dermis tumor | |
| lung leiomyosarcoma | A leiomyosarcoma and sarcoma of lung that is located_in the lung. |
| tibial adamantinoma | An adamantinoma of long bone that is located_in the tibia. |
| mucopolysaccharidosis iv | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain. |
| occlusion precerebral artery | |
| cerebrum cancer | A supratentorial cancer that is located_in the cerebrum. |
| dermatomycosis | A cutaneous mycosis that results_in fungal infection located_in skin or of its appendages, has_material_basis_in Ascomycota fungi other than the dermatophytes. |
| multicentric papillary thyroid carcinoma | |
| breast medullary carcinoma | |
| histidinemia | A histidine metabolism disease that involves a deficiency of the enzyme histidase. |
| lichen nitidus | |
| bladder diverticulum | OMIM mapping confirmed by DO. [SN]. |
| aortic valve insufficiency | An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle. |
| peroneal nerve paralysis | |
| metaphyseal dysplasia | An osteochondrodysplasia that results_in thinning and the tendency to fracture located_in bone. |
| legionellosis | A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea. |
| thrombocytopenia due to platelet alloimmunization | |
| female urethral cancer | |
| primary angle-closure glaucoma | |
| chromosomal disease | A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes. |
| 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. |
| small intestine neuroendocrine neoplasm | |
| pediatric lymphoma | |
| bone deterioration disease | A bone structure disease that results_in change or damage of structure located_in bone. |
| perivascular tumor | |
| merrf syndrome | OMIM mapping confirmed by DO. [SN]. |
| malignant fibroxanthoma | |
| somatization disorder | |
| epiglottis neoplasm | |
| guillain-barre syndrome | An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system. |
| dental pulp necrosis | |
| apperceptive agnosia | An agnosia that is a loss of the ability to distinguish visual shapes. |
| raynaud disease | OMIM mapping confirmed by DO. [SN]. |
| chronic leukemia | A leukemia that develops slowly. |
| borna disease | A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus, which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment. |
| lipoadenoma | An adenoma that is composed_of adipose tissue. |
| interval angle-closure glaucoma | |
| brain stem astrocytic neoplasm | |
| pustulosis of palm and sole | |
| cervical adenoma malignum | |
| lung papillary adenocarcinoma | |
| malignant epithelial mesothelioma | |
| malignant acrospiroma | |
| ascariasis | A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation. |
| velocardiofacial syndrome | A chromosomal disease that has_material_basis_in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features. |
| parasitic infectious disease | A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host. |
| peritoneal serous adenocarcinoma | |
| retinal vein occlusion | |
| middle lobe syndrome | A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection. |
| gamma heavy chain disease | A heavy chain disease that results from an overproduction of gamma antibody (IgG). |
| squamous cell carcinoma | A carcinoma that derives_from squamous epithelial cells. |
| calcaneonavicular coalition | OMIM mapping confirmed by DO. [LS]. |
| tooth disease | |
| gastrointestinal neuroendocrine benign tumor | |
| spermatocele | |
| pneumocystosis | An opportunistic mycosis that is located_in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has_symptom nonproductive cough, has_symptom shortness of breath, and has_symptom fever. |
| 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. |
| intracranial sinus thrombosis | |
| intracranial chondrosarcoma | |
| regular astigmatism | |
| pelizaeus-merzbacher disease | OMIM mapping confirmed by DO. [SN]. |
| cholesterol embolism | A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream. |
| thoracic outlet syndrome | A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles. |
| detrusor sphincter dyssynergia | |
| cellulitis | |
| citrullinemia | An urea cycle disorder that involves the accumulation of ammonia in the blood. |
| kyasanur forest disease | A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Kyasanur forest disease virus, which is transmitted_by Haemaphysalis spinigera tick bite. The infection has_symptom fever, has_symptom headache, has_symptom stiffness of the neck, has_symptom severe muscle pain, has_symptom cough, has_symptom dehydration, and has_symptom bleeding problems. |
| alcoholic neuropathy | |
| acute frontal sinusitis | A frontal sinusitis which lasts for less than 4 weeks. |
| hepatobiliary benign neoplasm | A gastrointestinal system benign neoplasm located_in the hepatobiliary system. |
| pharyngoconjunctival fever | A viral infectious disease that results_in infection located_in pharynx or located_in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted_by droplet spread of respiratory secretions or transmitted_by fomites. The infection has_symptom fever, has_symptom lymphadenopathy of the neck, and has_symptom headache. |
| acute pyelonephritis | |
| barrett's adenocarcinoma | |
| 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). |
| bell's palsy | A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve). |
| anovulation | |
| olfactory neuroblastoma | |
| anisometropia | |
| 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. |
| demyelinating disease | |
| chiasmal syndrome | |
| adrenal neuroblastoma | An adrenal gland cancer that derives_from immature neuroblastic cells. |
| lymphoplasmacyte-rich meningioma | |
| vulvar sarcoma | |
| atypical neurofibroma | |
| listeriosis | A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth. |
| organ system cancer | A cancer that is classified based on the organ it starts in. |
| reticulosarcoma | OMIM mapping confirmed by DO. [SN]. |
| askin's tumor | |
| spondylitis | |
| benign essential hypertension | |
| mitochondrial metabolism disease | An inherited metabolic disorder that involves mitochondrial metabolism dysfunction. |
| follicular thyroid carcinoma | A thyroid carcinoma that has_material_basis_in follicular cells. |
| primary hypertrophic osteoarthropathy | OMIM mapping confirmed by DO. [SN]. |
| coccidioidomycosis | A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules. |
| infiltrative basal cell carcinoma | |
| mastitis | |
| acne | A chronic disorder of the pilosebaceous apparatus associated with an increase in sebum secretion. It is characterized by open comedones (blackheads), closed comedones (whiteheads), and pustular nodules. The cause is unknown, but heredity and age are predisposing factors. |
| middle cerebral artery infarction | |
| brooke-spiegler syndrome | OMIM mapping confirmed by DO. [SN]. |
| pancreatic steatorrhea | |
| drug-induced hepatitis | |
| avian influenza | An influenza that results_in infection located_in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted_by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress. |
| transitional cell carcinoma | A carcinoma that derives_from transitional epithelial cells. |
| thyrotoxicosis | A thyroid gland disease that is characterized by excess thyroid hormone. |
| brain ischemia | |
| diffuse pulmonary fibrosis | |
| red color blindness | |
| leiomyomatosis | |
| mixed testicular germ cell tumor | A mixed germ cell cancer that is located_in the testis. |
| sarcomatoid transitional cell carcinoma | A transitional cell carcinoma that has sarcoma-like components arising from the malignant transitional epithelium. |
| anuria | |
| conn's syndrome | An adrenal admenoma characterized by over production of aldosterone. |
| angiomyolipoma | A cell type benign neoplasm that from perivascular epithelioid cells. |
| 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. |
| carcinoma of supraglottis | |
| hajdu-cheney syndrome | OMIM mapping confirmed by DO. [SN]. |
| cheilitis | A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa. |
| transient hypogammaglobulinemia of infancy | |
| astigmatism | Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed). |
| dacryoadenitis | |
| papillary craniopharyngioma | |
| retroperitoneal hemangiopericytoma | |
| 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. |
| juvenile type testicular granulosa cell tumor | |
| transitional papilloma | |
| secondary parkinson disease | |
| smooth muscle cancer | |
| spastic hemiplegia | A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side,the arm and leg may not develop normally. |
| hemangiopericytoma | A soft tissue cancer that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries. |
| primary polycythemia | |
| malignant spiradenoma | |
| brain glioblastoma multiforme | |
| gastroesophageal junction adenocarcinoma | |
| arthus reaction | |
| venous insufficiency | A vein disease that is characterized by impaired flow of blood through the veins. |
| periampullary adenocarcinoma | |
| cyclothymic disorder | A bipolar disorder that involves recurrent hypomanic and dysthymic episodes, but no full manic episodes or full major depressive episodes. |
| hidrocystoma | |
| endometriosis of uterus | OMIM mapping confirmed by DO. [SN]. |
| mucinous cystadenofibroma | |
| non-invasive bladder papillary urothelial neoplasm | |
| uterine body mixed cancer | A uterine corpus cancer that has_material_basis_in more than one type of cell. |
| liver sarcoma | A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver. |
| nephritis | |
| lown-ganong-levine syndrome | A syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles. |
| bronchitis | A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness. |
| breast signet ring cell adenocarcinoma | |
| subacute glomerulonephritis | |
| folic acid deficiency anemia | |
| hypolipoproteinemia | |
| cervix uteri carcinoma in situ | |
| hypodermyiasis | A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful. |
| prostatic hypertrophy | |
| carotid artery disease | |
| retinal microaneurysm | |
| paralytic ileus | |
| estrogen-receptor negative breast cancer | |
| chandler syndrome | |
| splenic artery aneurysm | |
| glycogen storage disease viii | |
| bartter disease | |
| spotted fever | A primary bacterial infectious disease that results_in infection, located_in endothelial cell of artery or located_in endothelial cell of vein, has_material_basis_in Rickettsia, which is transmitted_by ticks and mites. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom muscle aches, and has_symptom maculopapular or petechial rash. A distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite. |
| adrenal carcinoma | An adrenal cancer that is located_in the cortex (steroid hormone-producing tissue) of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| hyperostosis | A bone remodeling disease that results in an abnormal growth of located_in bone. |
| bile duct mucoepidermoid carcinoma | |
| gastric tubular adenocarcinoma | |
| ischemic bone disease | A bone disease that results_in an interruption of blood supply located_in bone. |
| occlusion of gallbladder | |
| cortical blindness | |
| retinoblastoma | A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina. |
| low tension glaucoma | |
| hodgkin's lymphoma, lymphocytic-histiocytic predominance | |
| cystic teratoma | |
| keratinizing squamous cell carcinoma | A squamous cell carcinoma that presents as single, isolated cells with bizzare cytoplasmic shapes, intense cytoplasmic eosinophilia, and intensely hyperchromatic, angular nuclei in a background of necrotic and keratinous debris. |
| mucopolysaccharidosis | A lysosomal storage disease that involves he accumulation of glycosaminoglycans in the tissues and their excretion in the urine. |
| paraphilia disorder | |
| gastrointestinal lymphoma | |
| brain glioma | A brain cancer that has_material_basis_in glial cells. |
| adult mesoblastic nephroma | A mixed neoplasm that is seen mostly in early infancy and that consists of classic and cellular (atypical) variants. |
| adult spinal muscular atrophy | OMIM mapping confirmed by DO. [SN]. |
| learning disability | A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information. |
| localized pulmonary fibrosis | |
| thyroid sarcoma | A thyroid cancer that is located_in the supporting cells of the thyroid. |
| tularemia | A primary bacterial infectious disease that has_material_basis_in Francisella tularensis, which is transmitted_by dog tick bite (Dermacentor variabilis), transmitted_by deer flies (Chrysops sp) or transmitted_by contact with infected animal tissues. |
| sarcomatoid basal cell carcinoma | |
| vaccinia | A viral infectious disease that results_in infection, located_in skin, has_material_basis_in Vaccinia virus, which is used as a live vaccine against smallpox. The virus is transmitted_by contact with the vaccination site before it has healed, or transmitted_by fomites that have been contaminated with live virus from the vaccination site. The infection has_symptom rash, has_symptom fever, and has_symptom body aches. |
| scleritis | |
| facial dermatosis | |
| ureteral disease | A urinary system disease that is located_in the ureter. |
| orbit lymphoma | |
| subependymal giant cell astrocytoma | |
| hypersensitivity reaction type i disease | An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods. |
| familial melanoma | |
| psammomatous meningioma | |
| tsh producing pituitary tumor | |
| exanthema subitum | A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human herpesvirus 6 or has_material_basis_in Human herpesvirus 7 and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck. |
| vestibular nystagmus | |
| migraine without aura | A migraine that is characterized by migraine headaches that are not accompanied by an aura. |
| opiate dependence | A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance. |
| breast mucinous carcinoma | |
| blindness | |
| multiple intestinal atresia | OMIM mapping confirmed by DO. [SN]. |
| myasthenia gravis | OMIM mapping confirmed by DO. [SN]. |
| dystonia | |
| corneal disease | |
| streptococcal meningitis | |
| lymphocytic choriomeningitis | A viral infectious disease that results_in infection located_in brain, or located_in meninges, or located_in brain and meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom lack of appetite, has_symptom headache, has_symptom muscle aches, has_symptom malaise, has_symptom nausea, and has_symptom vomiting. |
| gastroenteritis | A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen. |
| asymptomatic dengue | A dengue disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms. |
| immune system disease | A disease of anatomical entity that is located_in the immune system. |
| 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. |
| external ear cancer | |
| hair follicle neoplasm | |
| acute pericementitis | |
| 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. |
| plasmodium malariae malaria | A malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals. |
| 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. |
| pars planitis | OMIM mapping confirmed by DO. [SN]. |
| skin squamous cell carcinoma | A skin carcinoma that has_material_basis_in squamous cells. |
| colon carcinoma in situ | |
| phacogenic glaucoma | |
| malignant ovarian brenner tumor | |
| intraductal papillary breast neoplasm | |
| lateral cystocele | |
| langerhans cell sarcoma | A histiocytic and dendritic cell cancer that derives_from the lymph nodes, derives_from the skin, derives_from the liver, derives_from the spleen and derives_from bones. |
| open-angle glaucoma | A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage. |
| myoepithelial carcinoma | A carcinoma that derives_from myoepithelial cells. |
| acute urate nephropathy | |
| ureter adenocarcinoma | An ureter carcinoma that derives_from epithelial cells of glandular origin. |
| pyromania | An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive. |
| x-linked hypophosphatemia | A metal metabolism disorder that results from the inactivation of hormone-like substances (phosphatonins) that promote phosphate excretion which has_material_basis_in a X-linked mutation in the PHEX gene. |
| spastic entropion | |
| dermatitis | A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin. |
| endomyocardial fibrosis | |
| swayback | |
| anal canal carcinoma | An anal canal cancer that derives_from epithelial cells. |
| nasal cavity neoplasm | |
| fox fordyce disease | |
| intrahepatic cholestasis | Xref MGI. |
| opisthorchiasis | A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma. |
| chronic pulmonary heart disease | |
| urethral calculus | |
| nervous system disease | A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. |
| 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. |
| coats disease | OMIM mapping confirmed by DO. [SN]. |
| partial central choroid dystrophy | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| prostate small cell carcinoma | |
| tongue disease | |
| interstitial nephritis | |
| endophthalmitis | A globe disease that is characterized by inflammation of the inside of the eye. |
| thymus large cell carcinoma | |
| granulomatous orchitis | |
| mechanical ectropion | |
| 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. |
| venezuelan hemorrhagic fever | A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Guanarito virus, which is transmitted_by cotton rat, Sigmodon alstoni and transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia. |
| complex partial epilepsy | |
| dipetalonemiasis | A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis. |
| plantar fasciitis | |
| atrophy of prostate | |
| amphetamine abuse | A substance abuse that involves the recurring use of amphetamines despite negative consequences. |
| gastric papillary adenocarcinoma | |
| bolivian hemorrhagic fever | A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Machupo virus, which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts. |
| hypermobility syndrome | |
| inflammatory diarrhea | A gastrointestinal system infectious disease involving diarrhea that occurs when there is damage to the mucosal lining or brush border, which leads to a passive loss of protein-rich fluids, and a decreased ability to absorb these lost fluids. It can be caused by bacterial infections, viral infections, parasitic infections, or autoimmune problems such as inflammatory bowel diseases. It can also be caused by tuberculosis, colon cancer, and enteritis. |
| schnitzler syndrome | |
| striatonigral degeneration | OMIM mapping confirmed by DO. [LS]. |
| patellar tendinitis | |
| ampulla of vater cancer | |
| hemiplegia | |
| inverted papilloma | |
| frontal sinusitis | A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead. |
| allergic bronchopulmonary aspergillosis | An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has_symptom cough, has_symptom wheezing and has_symptom fever. |
| pancreatic acinar cell adenocarcinoma | A pancreas adenocarcinoma that has_material_basis_in cells with morphological resemblance to acinar cells and is associated with increased serum lipase. |
| hirschsprung's disease | A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel. |
| obstructive hydrocephalus | |
| bladder leiomyoma | |
| peripheral retinal degeneration | |
| epidermal appendage tumor | |
| chondrosarcoma | A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed)|A malignant mesenchymal tumor arising from cartilage-forming tissues involving the bones. It affects middle-aged to elderly adults, and the pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion. |
| childhood oligodendroglioma | |
| 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. |
| ovary epithelial cancer | An ovarian cancer that is derived_from ovarian surface epithelium. |
| laron syndrome | OMIM mapping confirmed by DO. [SN]. |
| cutaneous leiomyosarcoma | |
| cerebral atherosclerosis | |
| lattice corneal dystrophy | |
| neurogenic bowel | |
| vacterl association | A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. |
| foramen magnum meningioma | |
| stevens-johnson syndrome | |
| malaria | A protozoan disease caused in humans by four species of the PLASMODIUM genus: PLASMODIUM FALCIPARUM; PLASMODIUM VIVAX; PLASMODIUM OVALE; and PLASMODIUM MALARIAE; and transmitted by the bite of an infected female mosquito of the genus ANOPHELES. Malaria is endemic in parts of Asia, Africa, Central and South America, Oceania, and certain Caribbean islands. It is characterized by extreme exhaustion associated with paroxysms of high FEVER; SWEATING; shaking CHILLS; and ANEMIA. Malaria in ANIMALS is caused by other species of plasmodia.|Malaria is a parasitic disease characterized as a vector-borne arthropod infectious acute or chronic disease caused by the presence of sporozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. Occurrance is widespread in tropical and subtropical regions, including parts of the Americas, Asia, and Africa.|A protozoan infection caused by the genus Plasmodium. There are four species of Plasmodium that can infect humans: Plasmodium falciparum, vivax, ovale, and malariae. It is transmitted to humans by infected mosquitoes. Signs and symptoms include paroxysmal high fever, sweating, chills, and anemia.|An Aconoidasida infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. |
| 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. |
| clouston syndrome | OMIM mapping confirmed by DO. [SN]. |
| vaginal carcinoma | A vaginal cancer that has_material_basis_in epithelial cells. |
| retinal disease | An eye disease that is located_in the retina. |
| 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. |
| spondyloepimetaphyseal dysplasia, strudwick type | A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). |
| astrocytoma | A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation (MeSH).|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082) |
| bacterial meningitis | |
| glottis carcinoma | |
| urethral disease | A urinary system disease that is located_in the urethra. |
| motor neuron disease | A neurodegenerative disease that is located_in the motor neurones. |
| staphyloenterotoxemia | A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness. |
| 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). |
| mantle cell lymphoma | A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles. |
| stomach disease | A gastrointestinal system disease that is located_in the stomach. |
| esophageal disease | A gastrointestinal system disease that is located_in the esophagus. |
| ovarian primitive germ cell tumor | |
| ovarian serous adenofibroma | |
| akinetic mutism | A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness. |
| vitreous disease | An eye and adnexa disease that is located in the vitreous of the eye. |
| space motion sickness | |
| shigellosis | A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces. |
| verrucous papilloma | |
| mediastinitis | |
| splenic sequestration | |
| nervous system benign neoplasm | An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system. |
| brain germinoma | |
| ovarian lymphoma | |
| spleen cancer | A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen. |
| jejunal somatostatinoma | |
| porokeratosis | Xref MGI. |
| juxtacortical chondroma | |
| chronic sphenoidal sinusitis | A sphenoid sinusitis which lasts for 12 weeks or more. |
| pertussis | A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). |
| 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. |
| bone resorption disease | A bone remodeling disease that results in an abnormal decrease of bone density or mass. |
| tracheal cancer | A respiratory system cancer that is located_in the trachea. |
| 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. |
| constrictive pericarditis | |
| nasopharyngitis | A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx. |
| familial combined hyperlipidemia | OMIM mapping confirmed by DO. [SN]. |
| uterine cancer | A female reproductive organ cancer that is located_in the uterus. |
| filariasis | A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea. |
| juvenile glaucoma | |
| prostate calculus | |
| cecal disease | |
| familial renal oncocytoma | |
| intestinal schistosomiasis | A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia. |
| 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. |
| laryngitis | A laryngeal disease involving an inflammation of the larynx leading to hoarse voice or a complete loss of voice due to irritation of the vocal cords caused by viral, bacterial or fungal infection, inflammation due to overuse of the vocal cords and excessive coughing, smoking, or alcohol consumption. |
| hymenolepiasis | A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness. |
| unilateral retinoblastoma | A retinoblastoma that effects only one eye. |
| maturity-onset diabetes of the young | A genetic disease that has_material_basis_in mutations in the MODY genes disrupting insulin production. |
| sclerosing liposarcoma | |
| scrub typhus | A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted_by trombiculid mites (Leptotrombidium deliense). The infection has_symptom fever, has_symptom headache, has_symptom muscle pain, has_symptom cough, has_symptom maculopapular rash, has_symptom eschar, has_symptom splenomegaly and has_symptom lymphadenopathy. |
| osteonecrosis | Death of a bone or part of a bone, either atraumatic or posttraumatic. |
| partial third-nerve palsy | |
| mouth disease | A gastrointestinal system disease that is located_in the mouth. |
| retinal telangiectasia | |
| bile duct adenoma | An adenoma and biliary tract cancer that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma. |
| angioid streaks | OMIM mapping confirmed by DO. [SN]. |
| interdigitating dendritic cell sarcoma | A histiocytic and dendritic cell cancer and histiocytosis that effect dendritic cells. |
| cholelithiasis | Presence or formation of GALLSTONES in the BILIARY TRACT, usually in the gallbladder (CHOLECYSTOLITHIASIS) or the common bile duct (CHOLEDOCHOLITHIASIS). |
| testicular yolk sac tumor | |
| cerebrovascular disease | An artery disease that is characterized by dysfunction of the blood vessels supplying the brain. |
| seminal vesicle adenocarcinoma | A male reproductive organ cancer that derives_from epithelial cells of glandular origin. |
| coenzyme q10 deficiency disease | A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis. |
| hydrocele | |
| 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. |
| weaver syndrome | OMIM mapping confirmed by DO. [LS]. |
| cystadenoma | An adenoma that is a cystic. |
| simultanagnosia | An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time. |
| chronic fatigue syndrome | A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions. |
| rete testis adenocarcinoma | A rete testis neoplasm that derives_from epithelial cells of glandular origin. |
| psat deficiency | A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid. |
| cervix carcinoma | A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| thyroid carcinoma | |
| ornithosis | A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia. |
| friedreich ataxia | Xref MGI. |
| photokeratitis | |
| thymus gland disease | |
| persistent fetal circulation syndrome | OMIM mapping confirmed by DO. [SN]. |
| breast myoepithelial neoplasm | |
| ovarian benign neoplasm | |
| biliary dyskinesia | A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree. |
| jansen's metaphyseal chondrodysplasia | A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism. |
| 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. |
| myxoid chondrosarcoma | |
| fetishism | |
| prolymphocytic leukemia | |
| peripheral vertigo | |
| hypercementosis | |
| polycystic liver disease | |
| congenital generalized lipodystrophy | OMIM mapping confirmed by DO. [SN]. |
| nodular goiter | |
| spastic diplegia | A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk. |
| congenital structural myopathy | |
| cervical squamous cell carcinoma | A cervix carcinoma that has_material_basis_in squamous cells of the cervix. |
| melas syndrome | OMIM mapping confirmed by DO. [SN]. |
| acute cholangitis | |
| connective tissue cancer | A musculoskeletal system cancer that is located_in connective tissue. |
| branchiooculofacial syndrome | An autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts. |
| eccrine acrospiroma | |
| 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. |
| skin sarcoidosis | |
| anodontia | |
| cutaneous anthrax | An anthrax disease that results_in infection located_in skin, has_material_basis_in Bacillus anthracis, which is transmitted_by contact with infected animals or animal products. The infection has_symptom skin lesion that eventually forms an ulcer with a black center. |
| intracranial thrombosis | |
| inherited blood coagulation disease | |
| juvenile xanthogranuloma | |
| 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. |
| nutmeg liver | |
| sympathetic ophthalmia | |
| parapsoriasis | |
| tinea cruris | A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze. |
| glossitis | |
| 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. |
| malignant skin fibrous histiocytoma | |
| clear cell adenocarcinoma | An adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. |
| liver inflammatory pseudotumor | |
| lipid metabolism disorder | An inherited metabolic disorder that involves the creation and degradation of lipids. |
| nodular basal cell carcinoma | |
| osteitis fibrosa | A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone. |
| acute dacryoadenitis | |
| dysgerminoma | A germ cell cancer that derives_from cells that give rise to egg cells. |
| bartholin's gland adenocarcinoma | |
| hereditary lymphedema | A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system. |
| glycogen storage disease iv | OMIM mapping confirmed by DO. [SN]. |
| central core myopathy | OMIM mapping confirmed by DO. [SN]. |
| t-cell leukemia | |
| musculoskeletal system disease | A disease of anatomical entity that occurs in the muscular and/or skeletal system. |
| external ear disease | |
| diabetic retinopathy | Disease of the RETINA as a complication of DIABETES MELLITUS. It is characterized by the progressive microvascular complications, such as ANEURYSM, interretinal EDEMA, and intraocular PATHOLOGIC NEOVASCULARIZATION. |
| bacteriuria | A urinary system disease which consists of the presence of bacteria in urine. |
| malignant choroid melanoma | |
| hypoparathyroidism | A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood. |
| human granulocytic anaplasmosis | An ehrlichiosis that results_in infection located_in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted_by lone start tick (Amblyomma americanum ). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash. |
| 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. |
| solar retinopathy | |
| discrete subaortic stenosis | |
| transitional meningioma | |
| trypanosomiasis | A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans. |
| lymphangitis | A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning. |
| pseudomembranous conjunctivitis | A acute conjunctivitis which involves a fibrin-rich exudate formation on the surface of the conjunctiva. Infectious causes of pseudomembranes include Corynebacterium diphtheriae, streptococci, pneumococci, herpes simplex virus, adenovirus, Chlamydia and gonococci. Other causes include chemical (alkali) irritants, erythema multiforme, and ocular pemphigoid. |
| phaeohyphomycosis | A primary systemic mycosis located_in subcutaneous tissues, located_in brain, located_in sinuses, located_in lungs, or located_in peritoneal cavity, has_material_basis_in Exophiala dermatitidis, has_material_basis_in Phialophora, has_material_basis_in Bipolaris hawaiiensis, has_material_basis_in Exserohilum, has_material_basis_in Cladophialophora bantiana, has_material_basis_in Phaeoannellomyces, has_material_basis_in Aureobasidium, has_material_basis_in Cladosporium cladosporoides, has_material_basis_in Alternaria or has_material_basis_in Rhinocladiella mackenziei and results_in_formation_of subcutaneous abscesses arising at the site of minor trauma, and occur in both immunosuppressed and immunocompetent individuals. |
| endometrial carcinoma | A endometrial cancer that is located_in the tissue lining the uterus. |
| angioma serpiginosum | Angioma serpiginosum is a skin condition in which there are small blood vessels near the skin surface. It presents as small red dots (puncta) that cluster together to form a linear or snake-like array (serpiginous pattern) or ring-shaped (gyrate) pattern. There is no bleeding, inflammation or pigmentation. |
| cerebritis | |
| tinea manuum | A dermatophytosis that results_in fungal skin infection located_in hand, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, has_symptom burning, has_symptom cracking, and has_symptom scaling. |
| fatal familial insomnia | OMIM mapping confirmed by DO. [SN]. |
| maxillary sinus cancer | |
| epidermolysis bullosa dystrophica | |
| stiff-person syndrome | A movement disease that is of unknown etiology characterized by progressive rigidity. |
| central nervous system organ benign neoplasm | |
| bullous pemphigoid | An autoimmune disease of skin and connective tissue characterized by large blisters. |
| distal muscular dystrophy | |
| ataxic cerebral palsy | A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing. |
| epithelioid neurofibroma | |
| pernicious anemia | OMIM mapping confirmed by DO. [SN]. |
| pre-malignant neoplasm | A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer. |
| renal tubular acidosis | A renal tubular transport disease characterized by excess levels of acid in the blood, due to a failure of the kidneys to appropriately acidify the urine. |
| carbamoyl phosphate synthetase i deficiency disease | An amino acid metabolic disorder that involves accumulation of ammonia in the blood. |
| choroid cancer | |
| hidradenitis suppurativa | OMIM mapping confirmed by DO. [SN]. |
| hyperandrogenism | |
| 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. |
| adenosarcoma | A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium. |
| granulomatous angiitis | |
| panic disorder | An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress. |
| intracranial hypertension | |
| subacute bacterial endocarditis | |
| thyroid medullary carcinoma | A follicular thyroid carcinoma that has_material_basis_in parafollicular cells. |
| acute dacryocystitis | |
| dentin sensitivity | |
| eccrine sweat gland neoplasm | |
| post-vaccinal encephalitis | |
| gastric body carcinoma | |
| solitary osseous plasmacytoma | |
| crohn's disease | An intestinal disease that involves inflammation located_in intestine. |
| non-secretory myeloma | |
| tracheitis | A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions. |
| subependymal glioma | |
| nephrogenic adenoma of urinary bladder | |
| eyelid neoplasm | |
| intestinal botulism | A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. |
| female breast cancer | |
| batten disease | |
| hypoglossal nerve neoplasm | |
| atelosteogenesis | OMIM mapping confirmed by DO. [SN]. |
| endometriosis | The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs. |
| rectum squamous cell carcinoma | |
| japanese encephalitis | A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis. |
| astroblastoma | |
| cat-scratch disease | A primary bacterial infectious disease that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain. |
| methemoglobinemia | |
| corneal staphyloma | |
| pure red-cell aplasia | |
| conventional fibrosarcoma | |
| peripheral neuropathy | A neuropathy that is located_in nerves of the peripheral nervous system. |
| primary amebic meningoencephalitis | A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma. |
| penis carcinoma in situ | |
| splenic infarction | |
| triple-a syndrome | OMIM mapping confirmed by DO. [SN]. |
| papillary ependymoma | |
| morpheaform basal cell carcinoma | |
| lipid pneumonia | An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent. |
| histiocytosis | A lymphatic system disease that is characterized by an excessive number of histiocytes. |
| viral hepatitis | A hepatitis that involves viral infection causing inflammation of the liver. |
| kidney cortex necrosis | |
| sarcocystosis | A coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, muscle swelling, erythema, muscle tenderness,cough, arthralgia, transient pruritic rashes, headache, malaise and lymphadenopathy. |
| scirrhous adenocarcinoma | An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma. |
| salivary gland cancer | An oral cavity cancer that is located_in the salivary gland. |
| diaper rash | |
| leukocyte adhesion deficiency | OMIM mapping confirmed by DO. [SN]. |
| retinoschisis | |
| adenoid squamous cell carcinoma | A squamous cell carcinoma that is characterized by a tubular microscopic pattern and keratinocyte acantholysis. |
| silver-russell syndrome | OMIM mapping confirmed by DO. [LS]. |
| autoimmune thrombocytopenic purpura | A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies. |
| lipid-rich carcinoma | |
| comedo carcinoma | A carcinoma that is in situ (very early-stage breast cancer). |
| malignant secondary hypertension | |
| krukenberg carcinoma | |
| hypospadias | A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum. |
| ostertagiasis | A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia. |
| 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. |
| oculopharyngeal muscular dystrophy | OMIM mapping confirmed by DO. [SN]. |
| large cell medulloblastoma | A medulloblastoma that is characterized by cells that are larger than would be normally expected. |
| adrenal gland hyperfunction | |
| barth syndrome | A lipid metabolism disorder that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin. |
| peliosis hepatis | |
| 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). |
| jejunal neoplasm | |
| tricuspid valve prolapse | |
| focal epithelial hyperplasia | A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity. |
| ovarian endometrioid stromal sarcoma | |
| blount's disease | An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally. |
| female stress incontinence | |
| choriocarcinoma | An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected. |
| gonadal disease | An endocrine system disease that is located_in the gonads. |
| malignant giant cell tumor | |
| cowden disease | An autosomal dominant disease characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. It is caused by mutations in the PTEN, SDHB, SDHD and KLLN genes. |
| 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. |
| 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). |
| gastroduodenitis | |
| dentin dysplasia | A teeth hard tissue disease characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology. |
| rosacea | |
| congenital nervous system abnormality | |
| astereognosia | An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight. |
| chronic ethmoiditis | A ethmoid sinusitis which lasts for 12 weeks or more. |
| heart septal defect | |
| lacrimal system cancer | |
| 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. |
| quadriplegia | |
| childhood electroclinical syndrome | An electroclinical syndrome with onset in childhood between one and 12 years of age. |
| gallbladder small cell carcinoma | |
| pulmonary eosinophilia | |
| retinal vasculitis | |
| lymphangiosarcoma | |
| pediatric ovarian dysgerminoma | A dysgerminoma of ovary that occurs in children. |
| argininosuccinic aciduria | An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine. |
| homocystinuria | An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. |
| 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. |
| inverted follicular keratosis | |
| juvenile spinal muscular atrophy | OMIM mapping confirmed by DO. [SN]. |
| chronic cervicitis | |
| gallbladder lymphoma | |
| eye degenerative disease | |
| germ cell cancer | A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from germ cells. |
| rhinitis | A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip. |
| antithrombin iii deficiency | An inherited blood coagulation disease characterized by the tendency to form clots in the veins. |
| 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. |
| intracranial vasospasm | |
| corneal edema | |
| mucoepidermoid thyroid carcinoma | |
| neurofibroma of the esophagus | |
| bile duct adenocarcinoma | A bile duct carcinoma that derives_from epithelial cells of glandular origin. |
| recurrent corneal erosion | |
| echinococcosis | A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys. |
| achondroplasia | An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone. |
| fanconi syndrome | A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. |
| barbiturate dependence | A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance. |
| retinal degeneration | |
| cork-handlers' disease | |
| visual epilepsy | |
| scrotum squamous cell carcinoma | |
| colonic disease | |
| sebaceous carcinoma | |
| mature teratoma | |
| alpha thalassemia | Alpha thalassemia is a thalassemia involving the genes HBA1and HBA2 hemoglobin genes. |
| colon carcinoma | A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| placenta praevia | A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix. |
| liver cancer | A gastrointestinal system cancer that is located_in the liver. |
| echinostomiasis | A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain. |
| nephrogenic adenoma of the urethra | |
| esophagitis | |
| acinar cell carcinoma | A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells. |
| intracranial primitive neuroectodermal tumor | |
| pulpitis | |
| vulval paget's disease | |
| taylor's syndrome | |
| bladder calculus | |
| sweat gland cancer | |
| de quervain disease | |
| factor xiii deficiency | OMIM mapping confirmed by DO. [SN]. |
| intravenous leiomyomatosis | |
| 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. |
| bladder benign neoplasm | |
| 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. |
| vulvitis | |
| focal dermal hypoplasia | OMIM mapping confirmed by DO. [SN]. |
| pancreatic intraductal papillary-mucinous neoplasm | |
| chordoma | A notochordal cancer that derives_from cellular remnants of the notochord. |
| 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. |
| abcd syndrome | An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB). |
| secretory meningioma | |
| diffuse cutaneous mastocytosis | |
| sezary's disease | |
| cowpox | A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus, which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face. |
| infant botulism | A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness. |
| capillariasis | A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species. |
| tyrosinemia | An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine. |
| cryoglobulinemia | A condition characterized by the presence of cryoglobulins in the blood. Cryoglobulins are abnormal proteins that precipitate within the microvasculature on exposure to cold; microvasculature effects of cryoglobulinemia may result in restricted tissue blood flow, tissue hypoxia, and tissue necrosis. --2004 |
| hcl-v | |
| intraductal breast neoplasm | |
| tactile agnosia | An agnosia that is a loss of the ability to recognize or identify objects by touch alone. |
| 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. |
| b cell linker protein deficiency | A hypobammaglobulinemia that is a B cell deficiency caused by a mutation a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation. |
| hepatorenal syndrome | |
| malignant conjunctiva melanoma | |
| deep angioma | |
| tetanus | A primary bacterial infectious disease that results_in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli. |
| intermediate uveitis | |
| leukorrhea | |
| trachea leiomyoma | |
| tibial neuropathy | |
| mite infestation | A parasitic ectoparasitic infectious disease that involves infestation of mites belonging to the family Sarcoptidae, Trombiculidae and Demodicidae. |
| small intestine leiomyoma | |
| dissociative amnesia | A dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress. |
| glycogen-rich clear cell breast carcinoma | |
| gastric signet ring cell adenocarcinoma | |
| peyronie's disease | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| bamforth-lazarus syndrome | OMIM mapping confirmed by DO. [SN]. |
| biliary papillomatosis | A biliary tract neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree. |
| rheumatic disease | |
| advanced sleep phase syndrome | A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning. |
| septicemic plague | A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs. |
| diastolic heart failure | |
| glomerulosclerosis | A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney. |
| bone giant cell tumor | A giant cell tumor and bone cancer and bone tissue neoplasm that results_in the presence of multinucleated giant cells (osteoclast-like cell). |
| breast pericanalicular fibroadenoma | |
| anonychia congenita | OMIM mapping confirmed by DO. [SN]. |
| ohtahara syndrome | A neonatoal period electroclinical syndrome that is characterized by tonic spasms and partial seizures. |
| orbit sarcoma | |
| hallermann-streiff syndrome | A syndrome that affects growth, cranial development, hair growth and dental development. |
| subcorneal pustular dermatosis | |
| long bone adamantinoma | An adamantinoma that is located_in the long bones and results_in focal epithelial differentiation. |
| granular cell tumor | |
| leptospirosis | A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted_by contact with water, food, or soil containing urine from the infected animals. The infection has_symptom jaundice, has_symptom chills, has_symptom fever, has_symptom muscle pain, and has_symptom hepatomegaly. |
| hand, foot and mouth disease | A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet. |
| angiosarcoma | A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma. |
| 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. |
| dengue shock syndrome | A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth. |
| clear cell adenoma | An adenoma that is composed_of cells with a clear cytoplasm located_in ovary. |
| xanthogranulomatous pyelonephritis | |
| chancroid | A primary bacterial infectious disease that is a sexually transmitted infection located_in skin of the genitals, has_material_basis_in Haemophilus ducreyi, which is transmitted_by sexual contact. The infection has_symptom painful and soft ulcers. |
| organic acidemia | An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids. |
| anemia of prematurity | |
| generalized atherosclerosis | |
| chronic cholangitis | |
| binocular vision disease | |
| gastric leiomyoma | |
| tertiary neurosyphilis | A tertiary syphilis that results_in infection located_in brain or located_in spinal cord. |
| werner syndrome | OMIM mapping confirmed by DO. [LS]. |
| teeth hard tissue disease | |
| histrionic personality disorder | A personality disorder that is characterized by a pattern of excessive emotionality and attention-seeking, including an excessive need for approval and inappropriately seductive behavior, usually beginning in early adulthood. |
| cadasil | |
| inflammatory mfh | |
| mastocytosis | OMIM mapping confirmed by DO. [LS]. |
| reye syndrome | |
| arcus senilis | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| paralytic poliomyelitis | A poliomyelitis that results_in destruction located_in motor neurons of central nervous system, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom loss of reflexes, has_symptom muscle spasms, and has_symptom acute flaccid paralysis. |
| peroxisomal disease | An inherited metabolic disorder that involves peroxisome malfunction. |
| malignant iris melanoma | |
| esophageal adenosquamous carcinoma | An esophageal carcinoma that derives_from squamous cells and gland-like cells. |
| kaposi's sarcoma | A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (HHV8). |
| bone inflammation disease | A bone disease that results_in inflammation of the located_in bone. |
| ideomotor apraxia | |
| personality disorder | A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work. |
| epilepsy syndrome | A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. |
| lower respiratory tract disease | A respiratory system disease which involves the lower respiratory tract. |
| 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. |
| cholangitis | A bile duct disease that is an inflammation of the bile duct. |
| pituitary gland disease | An endocrine system disease that is located_in the pituitary gland. |
| aphasia | A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language. |
| monoclonal paraproteinemia | |
| prader-willi syndrome | OMIM mapping confirmed by DO. [SN]. |
| prostate neuroendocrine neoplasm | |
| coronary artery anomaly | |
| duodenal somatostatinoma | |
| iron metabolism disease | |
| acrodermatitis | |
| farber lipogranulomatosis | OMIM mapping confirmed by DO. [SN]. |
| acanthoma | |
| neuritis | |
| exotropia | |
| corneal granular dystrophy | |
| obstructive jaundice | |
| lymphoid interstitial pneumonia | An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses. |
| ankylosis | Ankylosis is a arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself. |
| elephantiasis | |
| vitreous syneresis | |
| scleral staphyloma | |
| juvenile pilocytic astrocytoma | |
| mucinoses | |
| mucinous stomach adenocarcinoma | |
| kernicterus | |
| diphyllobothriasis | A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia. |
| mild pre-eclampsia | A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation. |
| 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. |
| inappropriate adh syndrome | |
| eccrine sweat gland cancer | |
| necrotizing ulcerative gingivitis | |
| 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. |
| labyrinthitis | A inner ear infectious disease which involves inflammation of the labyrinths. |
| reticulohistiocytic granuloma | |
| brachyolmia | An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature. |
| pancreatic cystadenoma | |
| monophasic synovial sarcoma | |
| nonepidermolytic palmoplantar keratoderma | A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles. |
| 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. |
| chronic closed-angle glaucoma | |
| endometrial mucinous adenocarcinoma | |
| anus cancer | A large intestine cancer that is located_in the anus. |
| cri-du-chat syndrome | OMIM mapping confirmed by DO. [SN]. |
| chronic laryngitis | A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease. |
| loeffler endocarditis | A restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils. |
| cellular schwannoma | A neurilemmoma with a predominantly cellular growth but no Verocay bodies. |
| hypervitaminosis a | |
| 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. |
| mineral metabolism disease | An acquired metabolic disease that is characterized by abnormal mineral metabolism. |
| parasitic ectoparasitic infectious disease | A parasitic infectious disease that is caused by organisms that live primarily on the surface of the host. |
| male reproductive organ benign neoplasm | |
| musculoskeletal system benign neoplasm | An organ system benign neoplasm that is located_in the muscular and skeletal organs. |
| spinal stenosis | A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord. |
| achondrogenesis type ii | An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis,a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis. |
| deficiency anemia | |
| thrombocytopenia-absent radius syndrome | OMIM mapping confirmed by DO. [LS]. |
| achondrogenesis type ib | An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen. |
| hyperinsulinism | |
| upper respiratory tract disease | A respiratory system disease which involves the upper respiratory tract. |
| peripheral nervous system disease | A nervous system disease that affects the peripheral nervous system. |
| ovarian cyst | Ovarian cysts are small fluid-filled sacs that develop in a woman's ovaries. |
| 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. |
| acute proliferative glomerulonephritis | |
| nail-patella syndrome | OMIM mapping confirmed by DO. [SN]. |
| tyrosinemia type ii | A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. |
| subclavian steal syndrome | |
| hemorrhagic disease | |
| orchitis | |
| respiratory failure | A lung disease characterized by inadequate gas exchange by the respiratory system. |
| chronic pyelonephritis | |
| cellular leiomyoma | |
| polyp of corpus uteri | |
| multiple mucosal neuroma | |
| ellis-van creveld syndrome | OMIM mapping confirmed by DO. [SN]. |
| cd3delta deficiency | A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development. |
| duodenal disease | |
| posterior uveal melanoma | |
| onchocerciasis | A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy. |
| proliferative fasciitis | |
| cortical thymoma | |
| night blindness | |
| poems syndrome | |
| porphyria cutanea tarda | An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin. |
| hidradenoma | |
| breast adenomyoepithelioma | A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells. |
| choreatic disease | A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next. |
| 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. |
| spiradenoma | |
| mixed connective tissue disease | A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen. |
| trichotillomania | An impulse control disorder that involves the uncontrollable plucking of ones hair. |
| partial fetal alcohol syndrome | A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure. |
| xerophthalmia | |
| lung combined type small cell carcinoma | A lung small cell carcinoma that is characterized as a multiphasic lung cancer comprised of a mixture of small cell and non-small cell lung carcinoma cells. |
| chest wall lymphoma | A thoracic cancer that is located_in the chest wall. |
| myelofibrosis | A myeloma that is located_in the bone marrow which results_in bone marrow being replaced by fibrous (scar) tissue. |
| intestinal neuroendocrine benign tumor | |
| ventilation pneumonitis | An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease. |
| double outlet right ventricle | OMIM mapping confirmed by DO. [SN]. |
| angiokeratoma | |
| compartment syndrome | |
| iron deficiency anemia | |
| psychotic disorder | A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality. |
| pregnancy adenoma | |
| hyperkalemic periodic paralysis | OMIM mapping confirmed by DO. [SN]. |
| appendicitis | A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever. |
| rhabdomyosarcoma | |
| impaired renal function disease | |
| bone remodeling disease | A bone disease that results_in formation or resorption abnormalities located_in bone. |
| associative agnosia | An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them. |
| nodular tenosynovitis | |
| tonsillitis | An upper respiratory tract disease which involves inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat (which may be experienced as referred pain to the ears), painful/difficult swallowing, coughing, headache, myalgia (muscle aches), fever and chills. Tonsillitis is characterized by signs of red, swollen tonsils which may have a purulent exudative coating of white patches (i.e. pus). Swelling of the cheeks and neck may occur. |
| retroperitoneal sarcoma | A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space. |
| inclusion conjunctivitis | A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus. |
| congenital afibrinogenemia | OMIM mapping confirmed by DO. [SN]. |
| fourth cranial nerve palsy | |
| erythema multiforme | A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness. |
| salivary gland carcinoma | A salivary gland cancer that has_material_basis_in epithelial cells. |
| tympanic membrane disease | |
| bone marrow disease | |
| aqueous misdirection | |
| pericardium disease | A cardiovascular system disease that is located_in the fibrous sac surrounding the heart. |
| atypical teratoid rhabdoid tumor | A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system. |
| choroid plexus carcinoma | A choroid plexus cancer that has_material_basis_in epithelial cells of the choroid plexus. |
| senile cataract | |
| hereditary spastic paraplegia | A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs. |
| schizotypal personality disorder | A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs. |
| endemic goiter | |
| herpes simplex | A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which are transmitted_by direct contact with an active lesion or body fluid of an infected person. |
| cardiovascular cancer | An organ system cancer that located_in the heart and blood vessels. |
| liver angiosarcoma | An angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is located_in the liver. |
| protein s deficiency | |
| hepatobiliary disease | A gastrointestinal system disease that is located_in the liver and/or biliary tract. |
| urinary tract papillary transitional cell benign neoplasm | |
| nicotine dependence | |
| childhood type dermatomyositis | |
| ulcerative stomatitis | |
| prostate carcinoma in situ | |
| cerebral malaria | A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species. |
| norum disease | OMIM mapping confirmed by DO. [SN]. |
| cavernous sinus thrombosis | |
| bilateral breast cancer | A breast carcinoma that is characterized by an individual having breast cancer in both breasts, either simultaneously or at different times. |
| nasal cavity disease | |
| suppurative otitis media | A otitis media which involves inflammation of the middle ear with infected effusion containing pus. |
| polyarteritis nodosa | |
| hyperlipoproteinemia type iv | OMIM mapping confirmed by DO. [SN]. |
| loeffler syndrome | An eosinophilic pneumonia described as a form of pulmonary eosinophilia characterized as a mild pneumonitis marked by transitory pulmonary infiltration and eosinophilia and usually considered to be an allergic reaction. It can occur in response to a parasitic infection. |
| mixed glioma | |
| neonatal anemia | |
| chronic kidney failure | |
| eumycotic mycetoma | A dermatomycosis that effects skin and subcutaneous tissue located_in foot, located_in trunk, located_in buttocks, located_in eyelids, located_in lacrimal glands, located_in paranasal sinuses, located_in mandible, located_in scalp, located_in neck, located_in perineum, or located_in testes and has_symptom sinus discharge and results_in_formation_of nodules. |
| myocardial infarction | Xref MGI. |
| extracranial neuroblastoma | |
| essential tremor | A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms. |
| ovarian cystic teratoma | |
| bile reflux | |
| gorham's disease | A syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones. |
| lethal midline granuloma | |
| 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. |
| calcium metabolism disease | |
| colon neuroendocrine neoplasm | |
| lobular neoplasia | |
| cerebellar liponeurocytoma | |
| respiratory system disease | A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm. |
| glycine encephalopathy | An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues. |
| labyrinthine dysfunction | |
| type i ehlers-danlos syndrome | OMIM mapping confirmed by DO. [LS]. |
| kallmann syndrome | OMIM mapping confirmed by DO. [SN]. |
| blood platelet disease | |
| intracranial aneurysm | |
| malignant mesothelioma | A cell type cancer that has_material_basis_in mesothelial tissue. |
| acute anterolateral myocardial infarction | |
| chronic conjunctivitis | |
| pancreatic cancer | An endocrine gland cancer located_in the pancreas. |
| rectal neoplasm | |
| chondroma | A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern. |
| sexual disorder | A disease of mental health that involves the impairment in normal sexual functioning. |
| trichosporonosis | An opportunistic mycosis that results_in disseminated infection, has_material_basis_in Trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body. |
| hodgkin's lymphoma, lymphocytic depletion | |
| ductal carcinoma in situ | |
| intracystic papillary adenoma | |
| pulmonary alveolar proteinosis | A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange. |
| epidermolysis bullosa simplex | |
| facioscapulohumeral muscular dystrophy | OMIM mapping confirmed by DO. [SN]. |
| pulmonary plasma cell granuloma | |
| tonsil cancer | |
| phlebotomus fever | A viral infectious disease that results_in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted_by Phlebotomus papatasi sandfly. The infection has_symptom fever, has_symptom severe frontal headaches, has_symptom muscle ache, has_symptom joint aches, has_symptom flushing of the face, and has_symptom tachycardia. |
| progressive bulbar palsy | |
| albright's hereditary osteodystrophy | An osteochondrodysplasia that has_material_basis_in lack of responsiveness to parathyroid hormone which results_in shortening and widening of long bones of the located_in hand or located_in foot along with short stature, obesity, and rounded face. |
| periodontosis | |
| cervical adenosarcoma | A cervical carcinosarcoma that is located_in the cervix. |
| ehrlichiosis | A primary bacterial infectious disease that results_in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone start stick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash. |
| adrenal cortical hypofunction | |
| gamma chain deficiency | A severe combined immunodeficiency that is a X-linked SCID caused by mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells. |
| extrinsic cardiomyopathy | A cardiomyopathy that is characterized by the pathology occuring outside of the myocardium. |
| nezelof syndrome | OMIM mapping confirmed by DO. [SN]. |
| biliary atresia | A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder. |
| subacute lymphocytic thyroiditis | |
| monoclonal gammopathy of uncertain significance | |
| mulibrey nanism | OMIM mapping confirmed by DO. [SN]. |
| acquired polycythemia | |
| uterine disease | A female reproductive system disease that is located_in the uterus. |
| myeloid sarcoma | |
| epithelioid cell synovial sarcoma | |
| trilateral retinoblastoma | A retinoblastoma that refers to bilateral retinoblastoma associated with an intracranial primitive neuroectodermal tumor located_in the pineal or suprasellar region. |
| intermediate spinal muscular atrophy | OMIM mapping confirmed by DO. [SN]. |
| mixed lacrimal gland cancer | |
| urinary schistosomiasis | A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer. |
| trench fever | A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted_by body lice (Pediculus humanus corporis). The infection has_symptom relapsing fever, has_symptom headache, has_symptom shin pain, and has_symptom soreness of the muscles of the legs and back. |
| frontal sinus neoplasm | |
| toxic optic neuropathy | |
| uterine inversion | |
| gangliosidosis gm1 | OMIM mapping confirmed by DO. [SN]. |
| skin cancer | An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells. |
| benign neoplasm | A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize. |
| corneal ectasia | |
| benign mesenchymoma | |
| cystoid macular edema | OMIM mapping confirmed by DO. [SN]. |
| pituitary apoplexy | |
| cardiovascular syphilis | A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries. |
| mental depression | |
| asperger syndrome | An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development. |
| gastric lymphoma | |
| epithelial-myoepithelial carcinoma | |
| coenurosis | A parasitic helminthiasis infectious disease that involves infection by metacestode larval stage (coenurus) of Taenia multiceps or Taenia serialis. Coenuri in the skin or subcutaneous tissue present as painless nodules, which manifest on the trunk, sclera, subconjuctiva, neck, shoulders, head and limbs. Coenuri in the central nervous system may cause headache, fever, vomiting, nerve palsies, jacksonian epilepsy, pachymeningitis, obstructive or communicating hydrocephalus, and intracranial arteritis with transient hemiparesis. Coenuri in the eye cause both intraocular and orbital infections. |
| psoriatic arthritis | A syndrome that occurs in humans with psoriasis who also experience symptoms similar to arthritis. |
| supratentorial primitive neuroectodermal tumor | |
| richter's syndrome | |
| denture stomatitis | |
| purulent labyrinthitis | A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma. |
| laryngeal small cell carcinoma | |
| mixed germ cell cancer | A germ cell cancer that occurs in many forms. |
| cauda equina neoplasm | |
| congenital granular cell tumor | |
| precursor b lymphoblastic lymphoma/leukemia | |
| hairy cell leukemia | |
| lung meningioma | |
| 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. |
| gliofibroma | |
| chronic mucocutaneous candidiasis | A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp. |
| pancreatitis | Inflammation of the pancreas.|INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis. |
| carbohydrate metabolic disorder | An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates. |
| follicular dendritic cell sarcoma | A dendritic cell sarcoma cancer that effects the follicular dendritic cells. |
| macular retinal edema | |
| breast myofibroblastoma | |
| dysbaric osteonecrosis | An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone. |
| cutaneous fibrous histiocytoma | |
| herpetic whitlow | A herpes simplex that results_in infection located_in skin of the finger, toe, or thumb, has_material_basis_in Human herpesvirus 1 and has_material_basis_in Human herpesvirus 2 and has_symptom lesions, has_symptom fever, and has_symptom swollen lymph nodes. |
| encephalomyelitis | A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature. |
| childhood kidney neoplasm | |
| sideroblastic anemia with spinocerebellar ataxia | OMIM mapping confirmed by DO. [LS]. |
| epididymitis | |
| brain stem cancer | |
| entropion | |
| hemarthrosis | |
| adult acute lymphocytic leukemia | |
| bronchial neoplasm | |
| vogt-koyanagi-harada disease | A hypersensitivity reaction type II disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis. |
| wolf-hirschhorn syndrome | OMIM mapping confirmed by DO. [LS]. |
| synovium cancer | |
| breast cystic hypersecretory carcinoma | |
| toxoplasmosis | A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia. |
| hordeolum | Hordeolum is a sequelae of infectious and parasitic disease consisting of an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection. |
| spinocerebellar degeneration | |
| descending colon cancer | |
| urticaria pigmentosa | OMIM mapping confirmed by DO. [LS]. |
| vitamin metabolic disorder | An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism. |
| myositis ossificans | A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles. |
| skeletal tuberculosis | An extrapulmonary tuberculosis that results in formation of lesions located_in bone. |
| keratoconjunctivitis | |
| intermittent claudication | |
| 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. |
| preretinal fibrosis | |
| 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. |
| sialolithiasis | |
| visual agnosia | An agnosia that is a loss of the ability to visually recognize objects. |
| cerebral artery occlusion | |
| 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. |
| fibrosarcoma | |
| extrapulmonary tuberculosis | A tuberculosis that occurs at body sites other than the lung. |
| esophageal carcinoma | Tumors or cancer of the ESOPHAGUS. |
| non-specific x-linked mental retardation | A non-syndromic intellectual disability characterized by a X-linked inheritance pattern. |
| high pressure neurological syndrome | |
| adenosquamous pancreas carcinoma | A pancreatic ductal carcinoma that derives_from squamous cells and gland-like cells. |
| choriocarcinoma of ovary | |
| tooth and nail syndrome | A syndrome that affects the teeth, nails, hair, and/or skin. It is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary (permanent) teeth occurring in association with improper development of the nails, particularly the toenails. |
| optic nerve disease | A cranial nerve disease that is located_in the optic nerve. |
| chronic progressive external ophthalmoplegia | |
| perinephritis | |
| acute disseminated encephalomyelitis | An encephalomyelitis characterized by inflammation located_in brain and located_in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection. |
| breast benign neoplasm | |
| periapical granuloma | |
| somatostatinoma | |
| hereditary retinal dystrophy | |
| dermatitis herpetiformis | |
| brain stem glioma | |
| parametritis | |
| male urethral cancer | |
| senile entropion | |
| ventricular septal defect | A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles. |
| renal agenesis | |
| urethral stricture | |
| larsen syndrome | An autosomal dominant disease that is characterized by large-joint dislocations and characteristic craniofacial abnormalities. |
| gallbladder carcinoma | A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| sertoli cell-only syndrome | OMIM mapping confirmed by DO. [SN]. |
| sex cord-stromal neoplasm | |
| corneal neovascularization | |
| chronic myeloproliferative disease | A myeloma that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood. |
| transsexualism | A gender identity disorder that is characterized by an individual's identification with a gender inconsistent or not culturally associated with their biological sex. |
| tinea capitis | A dermatophytosis that results_in contagious fungal infection located_in scalp, located_in hair of head, located_in eyebrow or located_in eyelash, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching of the scalp, has_symptom pus filled lesions on the scalp, and has_symptom patches of hair loss, sometimes with a 'black dot' pattern. |
| muscle cancer | A musculoskeletal system cancer that is located_in muscle. |
| corneal dystrophy | |
| intrinsic asthma | An asthma that is triggered by factors not related to allergies such as anxiety, stress, exercise, cold air, dry air, hyperventilation, smoke, viruses, chemical irritants, autonomic imbalance, hormonal deficiencies and psychogenic influences. It is characterized by airway obstruction and inflammation that is at least partially reversible with medication. The symptoms include coughing, wheezing, shortness of breath or rapid breathing, and chest tightness. |
| cervical adenitis | |
| job's syndrome | OMIM mapping confirmed by DO. [SN]. |
| photosensitive trichothiodystrophy | OMIM mapping confirmed by DO. [SN]. |
| niemann-pick disease | OMIM mapping confirmed by DO. [SN]. |
| 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). |
| renal clear cell carcinoma | A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope. |
| immunoglobulin alpha deficiency | A B cell deficiency that is an autosomal recessive disorder caused by mutation in the IgA (CD79 alpha) antigen receptor. |
| melanotic neurilemmoma | |
| giant cell tumor | |
| tinea nigra | A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions. |
| acute apical periodontitis | |
| primary optic atrophy | |
| extrapyramidal and movement disease | |
| bannayan-riley-ruvalcaba syndrome | OMIM mapping confirmed by DO. [SN]. |
| microcystic meningioma | |
| localized osteosarcoma | |
| chronic frontal sinusitis | A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage. |
| pancreas lymphoma | |
| squamous papillomatosis | |
| hemangioblastoma | |
| thrombophlebitis | A phlebitis that results from a blood clot in the vessel. |
| 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. |
| physical urticaria | An urticaria induced by external physical influences. |
| neurogenic bladder | |
| intestinal disaccharidase deficiency | |
| nut allergic reaction | |
| cicatricial entropion | |
| ebola hemorrhagic fever | A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted_by contaminated fomites, or transmitted_by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding. |
| syphilis | A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years. |
| prostate transitional cell carcinoma | |
| skin atrophy | |
| gastric outlet obstruction | |
| intraventricular meningioma | |
| eyelid disease | An adnexa disease that is located_in the eyelid. |
| gingival overgrowth | |
| aortic atherosclerosis | |
| allergic conjunctivitis | A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant. |
| cardiac sarcoidosis | |
| silicosis | A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles. |
| mast-cell sarcoma | |
| prostate leiomyosarcoma | A prostate sarcoma that is located_in the prostate. |
| 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. |
| posteroinferior myocardial infarction | |
| spleen angiosarcoma | An angiosarcoma and hemangioma of intra-abdominal structure and malignant soft tissue neoplasm of the spleen that results_in a nonhematolymphoid malignant neoplasm of the spleen. |
| 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. |
| clonorchiasis | A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop. |
| parathyroid carcinoma | An endocrine gland cancer located_in the parathyroid glands located in the neck. |
| testicular lymphoma | |
| fibroepithelial polyp of the anus | |
| krabbe disease | OMIM mapping confirmed by DO. [SN]. |
| conjunctival pterygium | |
| prostate adenoid cystic carcinoma | |
| mood disorder | A cognitive disorder that involves an excessive, irrational dread of everyday situations. |
| gingival disease | |
| myxosarcoma | |
| penile disease | |
| breast adenoma | |
| pericardial tuberculosis | An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction. |
| bartholin's gland neoplasm | |
| reflex sympathetic dystrophy | OMIM mapping confirmed by DO. [SN]. |
| ecthyma | |
| folliculitis | |
| olecranon bursitis | |
| enterocele | |
| superficial urinary bladder cancer | A carcinoma of bladder that originates in the epithelial cells (the internal lining) of the bladder wall and is limited to this area. |
| phagocyte bactericidal dysfunction | A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection. |
| ureter cancer | A urinary system cancer that is located_in the ureter. |
| frasier syndrome | OMIM mapping confirmed by DO. [SN]. |
| artemis deficiency | A severe combined immunodeficiency that is caused when the DCLREI1, DNA cross-link repair 1C gene contains mutations resulting in the inability to repair DNA. |
| hemopneumothorax | |
| pseudomyxoma peritonei | An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis. |
| anal carcinoma | A anus cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anus. |
| testicular trophoblastic tumor | |
| gum cancer | |
| lymphogranuloma venereum | A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis. |
| cornea cancer | |
| orbital granuloma | |
| hypersensitivity reaction type iii disease | |
| gastric gastrinoma | |
| lens disease | |
| scotoma | |
| thyroid hurthle cell adenoma | |
| kluver-bucy syndrome | An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior. |
| alexithymia | An agnosia that is a deficiency in understanding, processing, or describing emotions. |
| vaginal carcinosarcoma | |
| microcytic anemia | OMIM mapping confirmed by DO. [SN]. |
| coronary aneurysm | |
| wegener's granulomatosis | An autoimmune disease that is a vasculitis that is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels. |
| vulva squamous cell carcinoma | A vulva carcinoma and has_material_basis_in squamous cells and is located_in the epidermis of the vulvar tissue. |
| epididymis cancer | |
| neurotic disorder | Disorders in which the symptoms are distressing to the individual and recognized by him or her as being unacceptable. Social relationships may be greatly affected but usually remain within acceptable limits. The disturbance is relatively enduring or recurrent without treatment. |
| 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. |
| epiglottitis | An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor. |
| conduct disorder | A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated. |
| endocardial fibroelastosis | An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers. |
| dyscalculia | A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page. |
| blackwater fever | A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax. |
| vulva adenocarcinoma | A vulva carcinoma that derives_from epithelial cells of glandular origin. |
| cd40 deficiency | A combined T cell and B cell immunodeficiency that is caused by mutation in TNFRSF5 resulting in type 3 hyper-IgM immunodeficiency characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation. |
| breast angiosarcoma | An angiosarcoma and sarcoma of breast and vascular neoplasm of breast that is located_in the cells that line the blood vessels within the breast or underarm area. |
| 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. |
| sm-ahnmd | |
| heart aneurysm | |
| urinary tract obstruction | |
| 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. |
| angiokeratoma circumscriptum | |
| bartholin's gland carcinoma | A vulva carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in Bartholin's gland. |
| dna ligase iv deficiency | A combined T cell and B cell immunodeficiency that is caused by a mutatino in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay. |
| glossopharyngeal neuralgia | |
| mycosis fungoides | OMIM mapping confirmed by DO. [SN]. |
| myelophthisic anemia | A myeloma and anemia that is located_in some people with diseases that affect the bone marrow. |
| bone ewing's sarcoma | A peripheral primitive neuroectodermal tumor that is located_in bone. |
| mononeuritis of upper limb and mononeuritis multiplex | |
| theileriasis | A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks. |
| punctate epithelial keratoconjunctivitis | |
| blastomycosis | A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening. |
| prostate stromal sarcoma | A stromal sarcoma and sarcoma of prostate and tumor of specialized prostatic stroma that is located_in the prostate. |
| osteochondrosis | An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone. |
| endocrine exophthalmos | |
| colorado tick fever | A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus, which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue. |
| axial osteomalacia | An osteosclerosis that results_in coarsening located_in trabecular bone. |
| chronic intestinal vascular insufficiency | |
| extratemporal epilepsy | An epilepsy syndrome that is located_in an area of the brain other than the temporal lobe. |
| papillary adenoma | |
| lung mixed small cell and squamous cell carcinoma | |
| ethmoid sinus adenoid cystic carcinoma | |
| marfan syndrome | OMIM mapping confirmed by DO. [SN]. |
| frontal sinus cancer | |
| pleomorphic adenoma carcinoma | |
| tetanus neonatorum | A tetanus that occurs in newborn babies when the birth cord stump gets dirty through cutting it with an unclean blade or applying substances containing bacteria to it. The infection has_symptom stiff body, has_symptom muscle spasms, has_symptom difficulty in breathing, and has_symptom exhaustion. |
| intracranial abscess | |
| beare-stevenson cutis gyrata syndrome | OMIM mapping confirmed by DO. [SN]. |
| colonic benign neoplasm | An intestinal benign neoplasm that is located_in the colon. |
| nodular nonsuppurative panniculitis | |
| sex cord-gonadal stromal tumor | A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary and testis. |
| dyspepsia | |
| corneal abscess | |
| vaginal yolk sac tumor | |
| vulvar proximal-type epithelioid sarcoma | |
| post-traumatic stress disorder | A class of traumatic stress disorders with symptoms that last more than one month. There are various forms of post-traumatic stress disorder, depending on the time of onset and the duration of these stress symptoms. In the acute form, the duration of the symptoms is between 1 to 3 months. In the chronic form, symptoms last more than 3 months. With delayed onset, symptoms develop more than 6 months after the traumatic event.|A class of traumatic stress disorders with symptoms that last more than one month. There are various forms of post-traumatic stress disorder, depending on the time of onset and the duration of these stress symptoms. In the acute form, the duration of the symptoms is between 1 to 3 months. In the chronic form, symptoms last more than 3 months. With delayed onset, symptoms develop more than 6 months after the traumatic event (MeSH).|An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term.|An anxiety disease which results from a traumatic experience that results in psychological trauma. |
| myxedema | OMIM mapping confirmed by DO. [SN]. |
| alcoholic hepatitis | |
| acute intermittent porphyria | |
| foster-kennedy syndrome | |
| gastrointestinal tuberculosis | An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom change in bowel habits, has_symptom nausea, and has_symptom vomiting. |
| pulmonary sarcoidosis | |
| paranasal sinus lymphoma | |
| 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. |
| meningeal melanomatosis | |
| buruli ulcer disease | A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin. |
| primary thrombocytopenia | |
| choledochal cyst | |
| lobomycosis | A dermatomycosis that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Lacazia loboi and has_symptom crusty plaques, has_symptom tumors and results_in_formation_of nodular lesions. |
| strongyloidiasis | A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis. |
| primary biliary cirrhosis | A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts. |
| pancreatic cystadenocarcinoma | |
| nelson syndrome | |
| ovarian germ cell teratoma | |
| ovarian stromal hyperthecosis | |
| capillary leak syndrome | |
| rhinoscleroma | A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis. |
| malignant essential hypertension | |
| cd45 deficiency | A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age. |
| vulvar squamous tumor | |
| plummer's disease | |
| hemophilia b | An inherited blood coagulation disease that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait. |
| chondroblastoma | A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells. It occurs primarily in the epiphyses of adolescents. It is relatively rare and represents less than 2% of all primary bone tumors. The peak incidence is in the second decade of life; it is about twice as common in males as in females. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1846)|A benign, lytic neoplasm usually arising from the cartilage in epiphysis and metaphysis of bone. It is a well circumscribed tumor characterized by the presence of chondroblasts, osteoclast-like giant cells, myxoid stroma formation, calcification, and mitotic activity. In aggressive cases, there is rearrangement of the 8q21 chromosome band. The tumor occurs most frequently in children and young adults. |
| morbid obesity | |
| geniculate herpes zoster | A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache. |
| caplan's syndrome | A pneumoconiosis that results_in humans that also have rheumatoid arthritis. |
| white piedra | A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Trichosporon beigelii. Infected hairs develop soft greyish-white nodules along the shaft. |
| morgagni cataract | |
| large intestine cancer | An intestinal cancer that effects the long, tube-like organ that is connected to the small intestine at one end and the anus at the other. |
| idiopathic pulmonary fibrosis | Chronic and progressive fibrosis of the lung parenchyma of unknown cause. |
| lacrimal gland adenoid cystic carcinoma | |
| syringocystadenoma papilliferum | |
| rheumatoid lung disease | |
| thymoma | A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus. |
| cranio-facial dystonia | A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck. |
| reticular dysgenesis | A severe combined immunodeficiency that is the most severe form of SCID and is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions. |
| sensory peripheral neuropathy | A peripheral neuropathy that involves damage to nerves of the peripheral nervous system. |
| ovarian brenner tumor | |
| stomach cancer | A gastrointestinal system cancer that is located_in the stomach. |
| gastrointestinal adenoma | |
| blau syndrome | An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas caused_by NOD2/CARD15 mutations. |
| proliferative glomerulonephritis | |
| medulloepithelioma | |
| louse-borne relapsing fever | A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material basis_in Borrelia recurrentis, which is transmitted_by body louse (Pediculus humanus). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy. |
| sly syndrome | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. |
| spindle cell carcinoma | A squamous cell carcinoma that is usually composed of the squamous cell type and results in fusiform development of rapidly proliferating cells. |
| yellow nail syndrome | A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached. |
| priapism | A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain. |
| periventricular nodular heterotopia | A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain. |
| epilepsy with generalized tonic-clonic seizures | An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type. |
| vaginitis | |
| pleomorphic xanthoastrocytoma | |
| familial nephrotic syndrome | |
| congenital hypogammaglobulinemia | |
| organ system benign neoplasm | A benign neoplasm that is classified by the organ system from which it is arising from. |
| yellow fever | A viral infectious disease that results_in infection, has_material_basis_in Yellow fever virus, which is transmitted_by Aedes, transmitted_by Haemagogus, or transmitted_by Sabethes species of mosquitoes. The infection has_symptom fever, has_symptom muscle pain, has_symptom backache, has_symptom headache, has_symptom shivers, has_symptom loss of appetite, has_symptom jaundice, and has_symptom bleeding from the mouth, nose, eyes or stomach leading to vomitus containing blood. |
| sagittal sinus thrombosis | |
| tick-borne relapsing fever | A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material basis_in Borrelia hermsii, has_material basis_in Borrelia parkeri or has_material basis_in Borrelia duttoni, which are transmitted_by soft ticks (Ornithodoros parkeri and Ornithodoros hermsii). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy. |
| egg allergy | A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms. |
| asymmetric motor neuropathy | |
| abdominal tuberculosis | An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas. |
| gastric squamous cell carcinoma | |
| sarcomatoid squamous cell skin carcinoma | |
| myxoid leiomyosarcoma | |
| chronic tic disorder | A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year. |
| actinobacillosis | A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media. |
| 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. |
| facial paralysis | |
| hyperaldosteronism | An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands. |
| pyriform sinus cancer | |
| visual cortex disease | |
| cutaneous ganglioneuroma | |
| uterine carcinosarcoma | A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma. |
| 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. |
| brody myopathy | OMIM mapping confirmed by DO. [SN]. |
| end stage renal failure | |
| cutaneous mastocytosis | |
| ocular hypotension | |
| x-linked disease | A monogenic disease that has_material_basis_in muations in genes on the X chromosome. |
| familial glomangioma | |
| mixed hepatoblastoma | |
| central nervous system teratoma | |
| normal pressure hydrocephalus | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| factor viii deficiency | An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait. |
| spondyloepimetaphyseal dysplasia, missouri type | A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities. |
| pulmonary venoocclusive disease | OMIM mapping confirmed by DO. [SN]. |
| apparent mineralocorticoid excess syndrome | |
| 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. |
| atypical lipomatous tumor | |
| anterograde amnesia | An amnestic disorder that involves the impaired or lost ability to memorize new things. |
| laryngeal disease | |
| asymptomatic neurosyphilis | A tertiary neurosyphilis that results_in mild meningitis. |
| liver disease | Any disease or dysfunction of the liver and the intrahepatic bile ducts.|Pathological processes of the LIVER. |
| croup | A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus. |
| pulmonary valve stenosis | |
| splenic abscess | |
| breast apocrine carcinoma | |
| vascular hemostatic disease | |
| perivascular epithelioid cell tumor | |
| 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. |
| autoimmune polyendocrine syndrome | An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. |
| bestrophinopathy | OMIM mapping confirmed by DO. [SN]. |
| subclavian artery aneurysm | |
| 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. |
| renal oncocytoma | OMIM mapping confirmed by DO. [SN]. |
| langerhans-cell histiocytosis | A histiocytosis that is characterized by clonal proliferation of Langerhans cells. |
| chronic inflammatory demyelinating polyradiculoneuropathy | |
| avoidant personality disorder | A personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction. |
| vaginal cancer | A female reproductive system cancer that is located_in the vagina. |
| glossopharyngeal nerve disease | |
| early yaws | A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur. |
| conventional angiosarcoma | |
| hypertrophic pyloric stenosis | A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting. |
| 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. |
| dextrocardia | |
| n syndrome | |
| hyperuricemia | An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood. |
| invasive ductal carcinoma | |
| pseudohypoparathyroidism | OMIM mapping confirmed by DO. [SN]. |
| anterior spinal artery syndrome | |
| hemoglobin e disease | |
| congenital syphilis | A syphilis that results_in a multisystem infection in the fetus via the placenta. |
| small intestine leiomyosarcoma | A small intestine sarcoma that affects the involuntary smooth muscles of the small intestines. |
| ullrich congenital muscular dystrophy | OMIM mapping confirmed by DO. [SN]. |
| tietze's syndrome | |
| 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. |
| 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. |
| testicular non-seminomatous germ cell cancer | |
| focal segmental glomerulosclerosis | A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE. |
| pulmonary sclerosing hemangioma | |
| 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. |
| ulcerative colitis | A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores. |
| byssinosis | |
| malignant hypertension | |
| hereditary angioedema | OMIM mapping confirmed by DO. [SN]. |
| acidophil adenoma | |
| miliaria | |
| hypertensive retinopathy | |
| posterior scleritis | |
| fallopian tube disease | |
| congenital heart block | OMIM mapping confirmed by DO. [SN]. |
| chronic salpingo-oophoritis | |
| water-clear cell adenoma | An adenoma that derives_from epithelial cells which have clear cytoplasm. |
| artery disease | A vascular disease that is located_in an artery. |
| olfactory groove meningioma | |
| spinal cord astrocytoma | |
| pyoderma | Pyoderma is a skin infectious disease where the infection is pyogenic causing the formation of pus. |
| hyperinsulinemic hypoglycemia | A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin. |
| monilethrix | OMIM mapping confirmed by DO. [SN]. |
| gingival recession | |
| temporal arteritis | OMIM mapping confirmed by DO. [LS]. |
| cd3zeta deficiency | A severe combined immunodeficiency that affects the development and function of T cells. |
| 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. |
| squamous cell papilloma | |
| ectropion | |
| glandular tularemia | A tularemia that results_in swelling of regional lymph glands. |
| extraosseous osteosarcoma | |
| impetigo herpetiformis | Impetigo herpetiformis is a impetigo described as a form of severe pustular psoriasis occurring in pregnancy. |
| macular holes | |
| blind loop syndrome | |
| gingivitis | |
| glomangioma | |
| pyoderma gangrenosum | |
| taeniasis | A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted_by ingestion of undercooked contaminated meat. |
| severe acute respiratory syndrome | A coronavirus infectious disease and is_a respiratory system infectious disease that results_in infection located_in respiratory tract, has_agent SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.|Severe acute respiratory syndrome is a respiratory tract infection described as a severe respiratory illness that is transmitted especially by contact with infectious material (as respiratory droplets or body fluids), is caused by a single-stranded RNA virus of the genus Coronavirus (SARS-CoV), is characterized by fever, headache, body aches, a dry cough, and hypoxia and usually by pneumonia.|A respiratory system infectious disease and is_a coronavirus infectious disease that results_in infection located_in respiratory tract, has_agent SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.|A viral disorder characterized by high FEVER, dry COUGH, shortness of breath (DYSPNEA) or breathing difficulties, and atypical PNEUMONIA. A virus in the genus CORONAVIRUS is the suspected agent.|A respiratory system infectious disease that is a severe respiratory illness characterized by fever, headache, body aches, a dry cough, and hypoxia and pneumonia caused by a single-stranded RNA virus of the genus SARS coronavirus (SARS-CoV). |
| testicular disease | |
| acute maxillary sinusitis | A maxillary sinusitis which lasts for less than 4 weeks. |
| pineal region teratoma | |
| leiomyosarcoma | A sarcoma containing large spindle cells of smooth muscle. Although it rarely occurs in soft tissue, it is common in the viscera. It is the most common soft tissue sarcoma of the gastrointestinal tract and uterus. The median age of patients is 60 years. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1865)|A malignant smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis.|An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas. |
| exposure keratitis | |
| testicular spermatocytic seminoma | |
| telangiectatic osteogenic sarcoma | |
| metagonimiasis | A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Metagonimus yokogawai. The symptoms are diarrhea and colicky abdominal pain. The heart and brain can also be infected. |
| hypokalemic periodic paralysis | OMIM mapping confirmed by DO. [SN]. |
| thrombocytosis | A myeloma and blood platelet disease that is characterized by the presence of high platelet counts in the blood. |
| neurilemmoma | |
| hypobetalipoproteinemia | |
| adrenal cortex cancer | |
| prolactin producing pituitary tumor | |
| vaginal benign neoplasm | |
| uterine benign neoplasm | |
| gallbladder melanoma | |
| neutropenia | |
| excessive tearing | |
| mononeuropathy | |
| 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. |
| cystinuria | An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder. |
| infantile refsum disease | OMIM mapping confirmed by DO. [SN]. |
| blastoma | A malignant neoplasm composed of undifferentiated cells. |
| animal phobia | A specific phobia that involves a fear caused by the presence or thought of a specific animal that poses little or no danger at all. |
| 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. |
| liver leiomyoma | |
| anal paget's disease | |
| tyrosinemia type iii | A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine. |
| salpingitis | |
| oligodendroglioma | A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO.)|A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2052; Adams et al., Principles of Neurology, 6th ed, p655)|A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO)|A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO.)|A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms (MeSH).|A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor of adults, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). It generally recurs locally, with median post-operative survival times ranging from 3 to 5 years for patients with all histological grades. (Adapted from WHO.) |
| skull cancer | |
| bursitis | |
| spinal cancer | A central nervous system cancer that is located_in the spinal cord. It is mostly formed from metastases from primary cancers elsewhere (commonly breast, prostate, and lung cancer). |
| borderline leprosy | A leprosy that results in small numerous red irregularly shaped plaques. |
| glycogen metabolism disorder | A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen. |
| hellp syndrome | A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count. |
| peptic ulcer perforation | |
| multiple chemical sensitivity | A syndrome that is an adverse physical reaction to low levels of many common chemicals. |
| esophageal atresia | |
| pathological gambling | An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life. |
| sandhoff disease | OMIM mapping confirmed by DO. [SN]. |
| plantar wart | A viral infectious disease that results_in benign epithelial tumors located_in skin of the sole or toes of the foot, has_material_basis_in human papillomavirus (types 1, 2, 4 or 63), has_symptom lesions that appear on the sole of the foot. |
| acute hemorrhagic leukoencephalitis | A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema. |
| placental abruption | A placenta disease that is characterized by separation of the placental lining from the uterus of the mother. |
| pulmonary alveolar microlithiasis | OMIM mapping confirmed by DO. [SN]. |
| vulvar dystrophy | |
| tinea favosa | A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring. |
| glucocorticoid-remediable aldosteronism | OMIM mapping confirmed by DO. [SN]. |
| intraocular retinoblastoma | A retinoblastoma that is located_in the eye and has not spread to other parts of the body. |
| iris cancer | |
| cystoisosporiasis | A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss. |
| ileal neoplasm | |
| adult respiratory distress syndrome | A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia. |
| sebaceous adenocarcinoma | |
| dysthymic disorder | A mood disorder that involves the presence of a low mood almost daily over a span of at least two years. |
| hailey-hailey disease | OMIM mapping confirmed by DO. [SN]. |
| trophoblastic neoplasm | A germ cell and embryonal cancer that derives_from trophoblastic tissue. |
| pilocytic astrocytoma of cerebellum | |
| lacrimal gland mucoepidermoid carcinoma | |
| dysostosis | A bone development disease that results_in defective ossification of located_in bone. |
| dubowitz syndrome | A syndrome that is a rare genetic disorder characterized by microcephaly, growth retardation and a characteristic facial appearance like small, round, triangular shaped with a pointed, receding chin, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids. |
| pilomatrixoma | OMIM mapping confirmed by DO. [SN]. |
| basosquamous carcinoma | |
| spondyloepiphyseal dysplasia congenita | OMIM mapping confirmed by DO. [SN]. |
| perforated corneal ulcer | |
| occult macular dystrophy | A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings. |
| amyotrophic neuralgia | OMIM mapping confirmed by DO. [SN]. |
| spondyloepimetaphyseal dysplasia, sponastrime type | A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance. |
| bubonic plague | A plague that results_in infection located_in lymph node producing a bubo, which is an inflamed, necrotic, and hemorrhagic lymphoid tissue. The infection has_symptom enlarged, tender lymph nodes, has_symptom fever, has_symptom chills and has_symptom prostration. |
| monkeypox | A viral infectious disease that results_in infection of primates, rodents and humans, located_in skin, has_material_basis_in Monkeypox virus, which is transmitted_by contact with the animal's blood, body fluids, rash, or with the body fluids of a sick person, transmitted_by fomites, and transmitted_by respiratory droplets. The infection has_symptom fever, has_symptom muscle ache, has_symptom headache, and has_symptom lymphadenopathy. |
| central nervous system origin vertigo | |
| osteoblastoma | |
| urinary system benign neoplasm | An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra. |
| tuberous sclerosis | OMIM mapping confirmed by DO. [LS]. |
| malignant spindle cell melanoma | A melanoma that is most commonly located_in sun-exposed skin and results_in_formation_ of spindle-like shaped cells that have a high recurrence rate even with treatment. |
| mononeuritis | |
| steatorrhea | |
| lateral medullary syndrome | |
| hydrophthalmos | |
| malignant struma ovarii | |
| cervical keratinizing squamous cell carcinoma | |
| roberts syndrome | OMIM mapping confirmed by DO. [SN]. |
| ulceroglandular tularemia | A tularemia that results_in painful regional lymphadenopathy and an ulcerated skin lesion. |
| pacinian tumor | |
| microphthalmia | |
| chronic interstitial cystitis | |
| clubfoot | OMIM mapping confirmed by DO. [SN]. |
| epithelioid leiomyosarcoma | |
| suppurative cholangitis | |
| factor vii deficiency | |
| cavernous hemangioma | |
| ovarian cystadenocarcinoma | |
| hepatitis a | A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. |
| ludwig's angina | |
| burning mouth syndrome | |
| 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. |
| hyperargininemia | An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine. |
| sleeping sickness | A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances. |
| granular cell leiomyosarcoma | |
| urethra clear cell adenocarcinoma | |
| atypical choroid plexus papilloma | |
| triple-receptor negative breast cancer | |
| pelger-huet anomaly | OMIM mapping confirmed by DO. [SN]. |
| sphenoid sinusitis | A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head. |
| adult astrocytic tumour | |
| multinodular goiter | A goiter characterized by a multinodular enlargement of the thyroid gland. |
| infective endocarditis | An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents. |
| neurogenic arthropathy | |
| severe congenital neutropenia | A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections. |
| lipoma of colon | |
| schwannoma of twelfth cranial nerve | |
| angiodysplasia | A vascular disease that is characterized as a small vascular malformation of the gut. |
| adult fibrosarcoma | |
| tracheal stenosis | |
| intracranial hypotension | |
| mixed cell adenoma | |
| lacrimal duct obstruction | |
| dacryocystocele | |
| carotid artery dissection | |
| hyperlucent lung | |
| encephalomalacia | |
| chronic inflammatory demyelinating polyneuritis | |
| kidney angiomyolipoma | |
| patent foramen ovale | |
| estrogen-receptor positive breast cancer | |
| pericoronitis | |
| apocrine adenoma | |
| 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. |
| 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. |
| selective igg deficiency disease | |
| aortic valve prolapse | |
| 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. |
| subacute thyroiditis | |
| acute t cell leukemia | |
| acheiropody | OMIM mapping confirmed by DO. [SN]. |
| cranial nerve palsy | |
| factor xii deficiency | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| exanthem | |
| central epithelioid sarcoma | |
| septal myocardial infarction | |
| bone development disease | A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage. |
| pineal region choriocarcinoma | |
| hemosiderosis | An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload. |
| impetigo | A pyoderma consisting of three forms of skin lesions having either a thick, adherent, recurrent, dirty yellow crust with an erythematous margin (common or superficial impetigo) or lessions which are superficial, thin-walled, and bullous as found in bullous impetigo. The lesions in bullous (staphylococcal) impetigo, which are always caused by S aureus, are superficial, thin-walled, and bullous. |
| dysentery | An intestinal infectious disease that involves inflammation of the intestines, especially colon, due to chemical irritants, bacteria, protozoa, or parasitic worms, which results in severe diarrhea with passage of mucus and blood. |
| hypothalamic neoplasm | |
| west nile fever | A viral infectious disease that results_in infection, has_material_basis_in West Nile virus, which is transmitted_by Culex and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom body ache, has_symptom nausea, has_symptom maculopapular rash and has_symptom vomiting. |
| autoimmune hemolytic anemia | An autoimmune disease of blood that is characterized by deficient red blood cells caused by auto-antibodies. |
| intestinal cancer | A gastrointestinal system cancer that is located_in the intestine. |
| cd40 ligand deficiency | A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE. |
| bowel dysfunction | |
| dicrocoeliasis | A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain. |
| tinea barbae | A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules. |
| substance-induced psychosis | |
| alveolar periostitis | |
| drug dependence | Disorders related to substance abuse, the side effects of a medication, or toxin exposure. |
| acute leukemia | A leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity. These lymphocytes (acute lymphocytic leukemia [ALL]) or myeloid cells (acute myelocytic leukemia [AML]) proliferate abnormally, replacing normal marrow tissue and hematopoietic cells and inducing anemia, thrombocytopenia, and granulocytopenia. |
| mucinous ovarian cystadenoma | |
| ureter inverted papilloma | |
| 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. |
| clear cell hidradenoma | |
| prostatic acinar adenocarcinoma | |
| nonphotosensitive trichothiodystrophy | OMIM mapping confirmed by DO. [SN]. |
| diabetic autonomic neuropathy | |
| laryngotracheitis | An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe. |
| arthropathy | A bone inflammation disease that is located_in joint. |
| uterine corpus cancer | A uterine cancer that is located_in the uterine corpus. |
| meningothelial meningioma | |
| pulmonary immaturity | |
| coffin-lowry syndrome | OMIM mapping confirmed by DO. [SN]. |
| periodic limb movement disorder | A sleep disorder that involves involuntary limb movement during sleep. |
| anogenital venereal wart | A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, and throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts. |
| lung giant cell carcinoma | A lung carcinoma that is located_in large undifferentiated cells. |
| cerebral convexity meningioma | |
| lymphoepithelioma-like thymic carcinoma | |
| systemic mycosis | A fungal infectious disease that results_in infection of internal organs and tissues located_in human body, has_material_basis_in Fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread through the bloodstream to multiple organs. |
| endometrial cancer | A uterine cancer that is located_in tissues lining the uterus. |
| heavy chain disease | A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains. |
| malignant teratoma | |
| thoracic disease | A disease of anatomical entity that is located_in the thoracic cavity. |
| nevoid basal cell carcinoma syndrome | OMIM mapping confirmed by DO. [SN]. |
| anal spasm | |
| limited scleroderma | |
| benign meningioma | |
| hypersensitivity reaction disease | An immune system disease that is caused by abnormal immune responses. |
| nodular ganglioneuroblastoma | |
| exocrine pancreatic insufficiency | |
| esophageal basaloid squamous cell carcinoma | |
| adrenal cortical adenocarcinoma | An adrenalcortical carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin. |
| hypoglycemia | |
| epidermolysis bullosa | |
| cutaneous diphtheria | A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin. |
| fallopian tube adenocarcinoma | A fallopian tube carcinoma that derives_from epithelial cells of glandular origin. |
| rhabdoid meningioma | |
| 46 xy gonadal dysgenesis | A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo. |
| isovaleric acidemia | An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine. |
| sipple syndrome | An autosomal dominant disease characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis. |
| blepharospasm | A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks. |
| graves' disease | An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland. |
| 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. |
| cholestasis | |
| diverticulitis | |
| 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. |
| fatty liver disease | A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in liver cells via the process of steatosis. |
| granuloma annulare | |
| cannabis abuse | A substance abuse that involves the recurring use of cannabis despite negative consequences. |
| testicular infarct | |
| neuromuscular disease | A neuropathy that affect the nerves that control the voluntary muscles. |
| takayasu's arteritis | A syndrome that involves inflammation of the aorta that carries blood from the heart to the rest of the body. |
| gastrinoma | A neuroendocrine tumor that results_in an overproduction of gastric acid. |
| orbital cyst | |
| aggressive digital papillary adenocarcinoma | |
| myoepithelioma | A sweat gland neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland. |
| phosphorus metabolism disease | |
| cystitis cystica | |
| cholangiolocellular carcinoma | |
| combat disorder | An acute stress disorder that involves neurotic reactions to unusual, severe, or overwhelming military stress. |
| expressive language disorder | A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits. |
| epithelioid sarcoma | |
| gynecomastia | |
| la crosse encephalitis | A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis. |
| sick sinus syndrome | Xref MGI. |
| intestinal disease | A gastrointestinal system disease that is located_in the intestine. |
| middle ear squamous cell carcinoma | A middle ear carcinoma that has_material_basis_in squamous cells. |
| gender identity disorder | A disease of mental health that involves a conflict between a person's actual physical gender and the gender that person identifies himself or herself as. |
| oculoglandular tularemia | A tularemia that results_in inflammation of eye and swelling of lymph glands in front of the ear. |
| acrokeratosis verruciformis | OMIM mapping confirmed by DO. [SN]. |
| placental insufficiency | A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy. |
| breast squamous cell carcinoma | |
| hemopericardium | A pericardial effusion that results from blood in the pericardial sac. |
| eccrine papillary adenocarcinoma | |
| hereditary night blindness | OMIM mapping confirmed by DO. [SN]. |
| crimean-congo hemorrhagic fever | A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo hemorrhagic fever virus, which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine. |
| mucolipidosis | A lysosomal storage disease that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). |
| 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. |
| mitral valve prolapse | A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole. |
| diffuse interstitial keratitis | |
| 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. |
| kuhnt-junius degeneration | |
| agranulocytosis | |
| breast mucoepidermoid carcinoma | |
| algoneurodystrophy | |
| peptic esophagitis | |
| paranasal sinus cancer | A respiratory system cancer that is located_in the paranasal sinuses. |
| angiostrongyliasis | A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis. |
| carrion's disease | A primary bacterial infectious disease that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed. |
| cystic echinococcosis | An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected. |
| 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. |
| cystitis | |
| hepatic vein thrombosis | |
| familial hyperlipidemia | |
| hilar cholangiocellular carcinoma | |
| cyclic hematopoiesis | OMIM mapping confirmed by DO. [SN]. |
| kidney disease | A disease affecting the kidneys |
| 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. |
| eczema herpeticum | A herpes simplex that results_in infection located_in skin, effected by preexisting dermatosis, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2. The infection has_symptom watery blisters, has_symptom fever, and has_symptom swelling of the lymph nodes. |
| granulomatous dermatitis | |
| hypogonadism | A gonadal disease that is characterized by diminished functional activity of the gonads. |
| glomerulonephritis | A nephritis that causes inflammation of the glomeruli located_in kidney. |
| purine-pyrimidine metabolic disorder | An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism. |
| brachial plexus neuritis | |
| 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. |
| apocrine sweat gland neoplasm | |
| twin-to-twin transfusion syndrome | |
| thalamic disease | |
| progesterone-receptor positive breast cancer | |
| serine deficiency | An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine. |
| facial neuralgia | |
| common bile duct disease | |
| maxillary sinus squamous cell carcinoma | |
| benign breast phyllodes tumor | |
| inner ear disease | |
| trigeminal neuralgia | OMIM mapping confirmed by DO. [LS]. |
| anal gland adenocarcinoma | An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal gland. |
| bile duct sarcoma | A sarcoma and malignant tumor of extrahepatic bile duct that is located_in the bile duct. |
| amino acid metabolic disorder | An inherited metabolic disorders which impair the synthesis and degradation of amino acids. |
| african tick-bite fever | A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash. |
| alcohol-related birth defect | A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure. |
| corneal degeneration | |
| tuberculous salpingitis | An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube. |
| lactic acidosis | An acquired metabolic disease that has_material_basis_in low pH in body tissues and blood accompanied by the buildup of lactate especially D-lactate. |
| leukemoid reaction | |
| mucosulfatidosis | OMIM mapping confirmed by DO. [SN]. |
| ulnar nerve lesion | |
| asbestosis | A pneumoconiosis caused by inhalation and retention of asbestos fibers. |
| atypical follicular adenoma | |
| hyperhomocysteinemia | An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood. |
| fabry disease | OMIM mapping confirmed by DO. [SN]. |
| central nervous system hereditary degenerative disease | |
| central nervous system leukemia | A hematologic cancer located_in the central nervous system. |
| skin lipoma | |
| parachordoma | |
| hypercalcemic type ovarian small cell carcinoma | |
| mucocutaneous leishmaniasis | A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa. |
| connective tissue benign neoplasm | A musculoskeletal system benign neoplasm that is located_in connective tissue. |
| silent myocardial infarction | |
| scrotum neoplasm | |
| uremic neuropathy | |
| follicular adenoma | |
| sarcomatoid renal cell carcinoma | |
| vulvar leiomyoma | |
| 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. |
| kidney clear cell sarcoma | A kidney sarcoma that has_material_basis_in clear cells that are characterized as cells that look clear when viewed under a microscope. |
| far eastern spotted fever | A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy. |
| erythropoietic protoporphyria | An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue. |
| esophageal cancer | A gastrointestinal system cancer that is located_in the esophagus. |
| cervical adenosquamous carcinoma | A cervical carcinoma that derives_from squamous cells and gland-like cells. |
| tricuspid valve insufficiency | A tricuspid valve disease that is characterized by failure of the heart's tricuspid valve to close properly during systole. As a result, with each heart beat, blood is pumped out from the right side of the heart in the opposite direction to normal. |
| vesicoureteral reflux | A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter. |
| spindle cell sarcoma | A sarcoma that results_in cells that are spindle-shaped. They are usually resistant to radiation therapy. |
| pseudobulbar palsy | |
| 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. |
| x-linked sideroblastic anemia | OMIM mapping confirmed by DO. [LS]. |
| histiocytic and dendritic cell cancer | A sarcoma and hematologic cancer that derives_from follicular lymphoma. |
| penis squamous cell carcinoma | A penis carcinoma that has_material_basis_in squamous cells. |
| renal tuberculosis | An urogenital tuberculosis that results_in formation of granulomas located_in kidney. |
| pericarditis | A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain. |
| colloid adenoma | |
| malignant mesenchymoma | |
| bone epithelioid hemangioma | |
| cutaneous solitary mastocytoma | |
| atrioventricular block | A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart. |
| perineurioma | |
| bronchiolitis | A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen. |
| lymphosarcoma | |
| large intestine lipoma | |
| creutzfeldt-jakob disease | OMIM mapping confirmed by DO. [SN]. |
| internal hemorrhoid | |
| pyridoxine-responsive sideroblastic anemia | OMIM mapping confirmed by DO. [LS]. |
| methylmalonic aciduria and homocystinuria type cblc | A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase. |
| urethral benign neoplasm | |
| ascaridiasis | A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia. |
| pallister-hall syndrome | OMIM mapping confirmed by DO. [SN]. |
| cystadenocarcinoma | An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed. |
| mucoepidermoid carcinoma | A salivary gland carcinoma that is characterized by squamous cells, mucus-secreting cells, and intermediate cells. |
| cardiovascular organ benign neoplasm | An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system. |
| cocaine abuse | A substance abuse that involves the recurring use of cocaine despite negative consequences. |
| bone disease | A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. |
| childhood disintegrative disease | A pervasive developmental disorder that is a rare condition characterized by late onset (>3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress. |
| retinal drusen | OMIM mapping confirmed by DO. [SN]. |
| breast papillomatosis | |
| adiaspiromycosis | A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens. |
| laryngeal squamous cell carcinoma | A laryngeal carcinoma that has_material_basis_in squamous cells. |
| histoplasmosis | A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains. |
| skin carcinoma in situ | A carcinoma in situ that is characterized by the spread of cancer in skin and the lack of invasion of surrounding tissues. |
| chorioamnionitis | A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection. |
| fibrosclerosis of breast | |
| urinary system cancer | An organ system cancer that is located_in the kidneys, ureteres, bladder or urethra. |
| ampulla of vater neoplasm | |
| pneumoconiosis due to talc | |
| non-langerhans-cell histiocytosis | |
| sennetsu fever | A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia. |
| typhus | A primary bacterial infectious disease that refers to a group of diseases, located_in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted_by lice, transmitted_by fleas, and transmitted_by mites. |
| malignant biphasic mesothelioma | |
| foodborne botulism | A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted_by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has_symptom blurred vision, has_symptom diplopia, has_symptom dysarthria, has_symptom dysphonia, has_symptom dysphagia and has_symptom descending muscle paralysis. |
| scabies | A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades. |
| bladder carcinoma in situ | |
| necrotizing fasciitis | |
| interleukin-7 receptor alpha deficiency | A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus. |
| vascular dementia | A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain. |
| diabetic macular edema | |
| thoracic aortic aneurysm | An aortic aneurysm that is located_in the thoracic aorta. |
| pterygium | A fleshy mass of thickened conjunctiva that grows over part of the cornea usually from the inner side of the eyeball and causes a disturbance of vision. |
| toxic shock syndrome | A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus , which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities. |
| enamel caries | |
| urethral diverticulum | |
| 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. |
| colonic pseudo-obstruction | |
| phlebitis | A vein disease that is characterized by inflammation of a vein. |
| epithelioid trophoblastic tumor | |
| 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). |
| synovitis | A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling. |
| ovarian biphasic or triphasic teratoma | |
| paranoid personality disorder | A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others. |
| breast osteosarcoma | |
| intussusception | OMIM mapping confirmed by DO. [SN]. |
| bacterial conjunctivitis | |
| pediatric fibrosarcoma | |
| mediastinal lipomatosis | |
| alcoholic pancreatitis | |
| ampulla of vater carcinoma | An ampulla of Vater cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| anus adenocarcinoma | An anal carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin. |
| pseudohermaphroditism | |
| geotrichosis | An opportunistic mycosis that has_material_basis_in Galactomyces geotrichum, results_in systemic infection in immunocompromised people. |
| ritter's disease | A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptoms redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability. |
| jaccoud's syndrome | |
| vulvar syringoma | |
| epstein-barr virus hepatitis | A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice. |
| hemangioma of lung | |
| cervix endometriosis | |
| lymphatic system disease | An immune system disease that is located_in the lymphatic system. |
| struma ovarii | |
| dieulafoy lesion | |
| hepatic angiomyolipoma | |
| prolactinoma | OMIM mapping confirmed by DO. [SN]. |
| schizoaffective disorder | A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact with reality. |
| 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. |
| basilar artery occlusion | |
| gallbladder adenocarcinoma | A gallbladder carcinoma that derives_from epithelial cells of glandular origin. |
| thyroiditis | Updating to more specific UMLS_CUI from C0029495 to C0040147. |
| 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. |
| dentin caries | |
| exocervical carcinoma | |
| mooren's ulcer | |
| podoconiosis | |
| pigmented villonodular synovitis | |
| biliary tract cancer | A gastrointestinal system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct. |
| pituitary adenoma | |
| peanut allergic reaction | A food allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms. |
| congenital hypoplastic anemia | |
| coronary stenosis | |
| ovarian gonadoblastoma | |
| gestational trophoblastic neoplasm | OMIM mapping confirmed by DO. [SN]. |
| empty sella syndrome | |
| eosinophilia-myalgia syndrome | |
| ovarian squamous cell carcinoma | |
| necrobiosis lipoidica | |
| amblyopia | |
| purpura | |
| retrocochlear disease | |
| thyroid hurthle cell carcinoma | OMIM mapping confirmed by DO. [LS]. |
| glomangiomyoma | |
| fibrous histiocytoma | |
| tick infestation | A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice. |
| interstitial myocarditis | |
| nasal cavity lymphoma | |
| ependymoblastoma | |
| conjunctival deposit | |
| duane retraction syndrome | OMIM mapping confirmed by DO. [SN]. |
| brown induration | A lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. Examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macrophages (siderophages), and the lung biopsy shows numerous siderophages in the alveoli. Alveolar hemorrhage is characterized by hemoptysis, dyspnea, alveolar infiltrates on chest radiograph, and various degrees of anaemia. Following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h. |
| tethered spinal cord syndrome | OMIM mapping confirmed by DO. [LS]. |
| hypochromic microcytic anemia | A microcytic anemia characterized by paler than normal blood cells. |
| ovary transitional cell carcinoma | |
| disease of cellular proliferation | A disease that is characterized by abnormally rapid cell division. |
| atrophy of testis | |
| cd3gamma deficiency | A severe combined immunodeficiency an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected. |
| sphingolipidosis | |
| hepatic encephalopathy | |
| heart lymphoma | |
| hereditary wilms' tumor | A nephroblastoma that results_in either bilateral disease or a family history of Wilms' tumour. |
| splenic disease | |
| bone structure disease | A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure. |
| apical myocardial infarction | |
| enlarged vestibular aqueduct | OMIM mapping confirmed by DO. [SN]. |
| congenital adrenal insufficiency | OMIM mapping confirmed by DO. [SN]. |
| tropical sprue | |
| anthrax disease | A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath. |
| 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. |
| hepatitis | |
| stress polycythemia | |
| fetal alcohol syndrome | A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction. |
| polyclonal hypergammaglobulinemia | |
| proteus syndrome | OMIM mapping confirmed by DO. [SN]. |
| calcinosis | A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue. |
| adult-onset still's disease | An arthritis that is a rare from of inflammatory arthritis characterized by fevers, rash, and joint pain. |
| multiple symmetrical lipomatosis | |
| heart sarcoma | A sarcoma and malignant neoplasm of heart that is located_in the heart. |
| femoral neuropathy | |
| childhood malignant schwannoma | |
| pituitary cancer | An endocrine gland cancer located_in the pituitary gland located at the base of the brain. |
| thyroid adenoma | |
| 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. |
| pellagra | |
| contact dermatitis | |
| functioning pituitary adenoma | |
| intracranial embolism | |
| acromesomelic dysplasia | An osteochondrodysplasia that has_material_basis_in mesomelia and acromelia, which results_in short limb Dwarfism. |
| pancytopenia | |
| vitamin b12 deficiency | A vitamin metabolic disorder that results from low blood levels of vitamin B12. |
| epidemic typhus | A typhus that has_material_basis_in Rickettsia prowazekii, which is transmitted_by human body louse (Pediculus humanus corporis). The infection has_symptom high fever, has_symptom cough, has_symptom rash, has_symptom severe muscle pain, has_symptom chills, has_symptom falling blood pressure, has_symptom stupor, has_symptom sensitivity to light, and has_symptom delirium. |
| gait apraxia | |
| focal chorioretinitis | |
| gingival hypertrophy | |
| bacterial infectious disease | A disease by infectious agent that results_in infection, has_material_basis_in Bacteria. |
| blepharophimosis, ptosis, and epicanthus inversus syndrome | OMIM mapping confirmed by DO. [SN]. |
| dyslexia | |
| optic nerve neoplasm | |
| benign paroxysmal positional nystagmus | |
| esophagus adenocarcinoma | An esophageal carcinoma that derives_from epithelial cells of glandular origin. |
| metabolic acidosis | A lactic acidosis that has_material_basis_in high levels of acid. |
| invasive malignant thymoma | |
| 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. |
| 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. |
| placenta disease | A uterine disease that is located_in the placenta. |
| tooth ankylosis | OMIM mapping confirmed by DO. [LS]. |
| ossifying fibroma | A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma. |
| sporadic breast cancer | |
| toxic myocarditis | |
| spondyloarthropathy | Heterogeneous group of arthritic diseases sharing clinical and radiologic features. They are associated with the HLA-B27 ANTIGEN and some with a triggering infection. Most involve the axial joints in the SPINE, particularly the SACROILIAC JOINT, but can also involve asymmetric peripheral joints. Subsets include ANKYLOSING SPONDYLITIS; REACTIVE ARTHRITIS; PSORIATIC ARTHRITIS; and others. |
| acute cor pulmonale | |
| 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. |
| mixed germ cell-sex cord neoplasm | |
| glycogen storage disease iii | OMIM mapping confirmed by DO. [SN]. |
| rhabdoid cancer | A childhood kidney neoplasm that is located_in the in the kidney as well as other locations outside the kidneys such as the liver, muscle, heart, lung, soft tissues, skin, the central nervous system. |
| 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. |
| laryngeal tuberculosis | A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia. |
| placenta cancer | |
| nocardiosis | An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy. |
| muscle benign neoplasm | |
| synucleinopathy | A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. |
| familial hypercholesterolemia | A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. |
| extraosseous ewing's sarcoma | |
| central pontine myelinolysis | |
| breast leiomyosarcoma | |
| senile ectropion | |
| chondromalacia | |
| alcoholic psychosis | |
| chronic nk-cell lymphocytosis | |
| hyperglycemia | |
| pleural cancer | A connective tissue cancer that located_in the pleura. |
| pick's disease | OMIM mapping confirmed by DO. [SN]. |
| murray valley encephalitis | A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Murray Valley encephalitis virus, which is transmitted_by Culex annulirostris mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom drowsiness, has_symptom confusion, has_symptom fitting, and has_symptom weakness. |
| choroiditis | |
| lemierre's syndrome | A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling. |
| signet ring basal cell carcinoma | |
| sleep disorder | A disease of mental health that involves disruption of sleep patterns. |
| renal artery atheroma | |
| periodontal disease | |
| balkan nephropathy | An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria. |
| superficial basal cell carcinoma | |
| chronic orbital inflammation | |
| familial periodic paralysis | |
| parathyroid adenoma | |
| borderline personality disorder | A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods. |
| cyclosporiasis | A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue. |
| hereditary conventional renal cell carcinoma | |
| 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. |
| cartilage disease | |
| chronic myeloid leukemia | A myeloid leukemia that is characterized by over production of white blood cells. |
| breast cancer | A thoracic cancer that originates in the mammary gland. |
| 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) |
| secretory diarrhea | Secretory diarrhea is a diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions. |
| uremia | |
| granulomatous endometritis | |
| osteochondrodysplasia | A bone development disease that results_in defective development of cartilage or bone. |
| 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. |
| benign mesothelioma | A cell type benign neoplasm that has_material_basis in mesothelium. |
| pelvic inflammatory disease | |
| thymus lipoma | |
| salpingitis isthmica nodosa | |
| aleutian mink disease | A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia. |
| rothmund-thomson syndrome | OMIM mapping confirmed by DO. [SN]. |
| malignant glandular tumor of peripheral nerve sheath | |
| vestibular neuronitis | A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent. |
| breast secretory carcinoma | |
| poland syndrome | OMIM mapping confirmed by DO. [SN]. |
| schneiderian carcinoma | |
| nephrolithiasis | Formation of stones in the KIDNEY. |
| mixed malaria | A malaria that involves infection with more than one species of Plasmodium at the same time. |
| articulation disorder | A speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand. |
| 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. |
| giant cell reparative granuloma | |
| vascular cancer | A cardiovascular cancer that is located_in blood vessels. |
| 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. |
| pigmented basal cell carcinoma | |
| anxiety disorder | A cognitive disorder that involves an excessive, irrational dread of everyday situations. |
| seminoma | A germinoma that has_material_basis_in cells that make sperm and eggs. |
| 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. |
| bloom syndrome | OMIM mapping confirmed by DO. [SN]. |
| cystadenofibroma | An adenofibroma that is composed_of epithelial ovarian tissue. |
| vesiculobullous skin disease | |
| 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. |
| vulvar leiomyosarcoma | |
| early myoclonic encephalopathy | |
| chondromalacia patellae | OMIM mapping confirmed by DO. [SN]. |
| early invasive cervical adenocarcinoma | |
| hypopharynx cancer | A pharynx cancer that is located_in the hypopharynx. |
| mucoepidermoid esophageal carcinoma | |
| cleft palate | An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate. |
| epididymis adenocarcinoma | An epididymis cancer that derives_from epithelial cells of glandular origin. |
| bile duct carcinoma | A bile duct cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| in situ carcinoma | A carcinoma that is an early development defined by the absence of invasion of surrounding tissues. |
| auditory system 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. |
| hepatic vascular disease | A vascular disease that is located_in the liver. |
| childhood leukemia | A leukemia that occurs in children. |
| 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. |
| multiple carboxylase deficiency | An amino acid metabolic disorder that involves failures of carboxylation enzymes. |
| psychosexual disorder | |
| meningitis | Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents. |
| allergic urticaria | |
| chondroid chordoma | A chordoma that histologically derives_from chordoma, derives_from chondroma, and derives_from chondrosarcoma. |
| endometrium carcinoma in situ | |
| acrodermatitis enteropathica | |
| vestibular disease | |
| ocular cancer | A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye. |
| multiple symmetric lipomatosis | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| endometrioid ovary carcinoma | |
| 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. |
| anterior horn cell disease | |
| nutritional deficiency disease | |
| mixed ductal-endocrine carcinoma | |
| wernicke encephalopathy | |
| 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. |
| measles | A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash. |
| patellofemoral pain syndrome | |
| microcystic adenoma | |
| rhinosporidiosis | A parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. Disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed. |
| suppurative thyroiditis | |
| fibrosarcomatous osteosarcoma | |
| mycobacterium avium complex disease | A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons. |
| polyhydramnios | A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac. |
| hydrarthrosis | |
| hypokalemia | |
| familial meningioma | OMIM mapping confirmed by DO. [SN]. |
| hypogonadotropism | |
| fibroepithelial basal cell carcinoma | |
| renal tubular transport disease | |
| johanson-blizzard syndrome | An autosomal recessive disease that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner. |
| hyperlipoproteinemia type v | OMIM mapping confirmed by DO. [SN]. |
| balloon cell malignant melanoma | |
| pancreatic cholera | |
| superficial mycosis | A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host. |
| rectum cancer | A colorectal cancer that is located_in the rectum. |
| pulmonary neuroendocrine tumor | |
| coronary artery vasospasm | |
| antisocial personality disorder | A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood. |
| intracranial arterial disease | |
| cortical deafness | An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact. |
| composite lymphoma | A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time. |
| congenital ichthyosiform erythroderma | OMIM mapping confirmed by DO. [SN]. |
| otitis media | A otitis which involves inflammation of the middle ear. |
| patau syndrome | OMIM mapping confirmed by DO. [LS]. |
| reproductive organ benign neoplasm | An organ system benign neoplasm that is located_in reproductive system organs. |
| periosteal chondrosarcoma | |
| lipomatosis | |
| conjunctivochalasis | |
| anauxetic dysplasia | OMIM mapping confirmed by DO. [SN]. |
| goodpasture syndrome | A hypersensitivity reaction type II disease that is characterized by glomerulonephritis located_in kidney and hemorrhaging located_in lung. |
| x-linked ichthyosis | OMIM mapping confirmed by DO. [LS]. |
| central nervous system germinoma | |
| adult pleomorphic rhabdomyosarcoma | |
| influenza | A viral infectious disease that results_in infection, located_in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness. |
| hyperpituitarism | |
| anterior compartment syndrome | |
| keratosis | |
| acute contagious conjunctivitis | |
| dependent personality disorder | A personality disorder that is characterized by a pervasive psychological dependence on other people. |
| subacute sclerosing panencephalitis | A viral infectious disease that results_in infection located_in brain, has_material_basis_in Measles virus which is immune resistant (which can be a result of a mutation of the virus itself). |
| scalp dermatosis | |
| degenerative disc disease | A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc. |
| papilloma | A cell type benign neoplam that is composed_of epithelial tissue on papillae of vascularized connective tissue. |
| arc syndrome | A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis, caused_by homozygous or compound heterozygous mutation located_in VPS33B gene. |
| congenital nonspherocytic hemolytic anemia | |
| macroglobulinemia | |
| 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. |
| benign fibrous mesothelioma | |
| 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. |
| prostate signet ring cell adenocarcinoma | |
| senile angioma | |
| tick-borne encephalitis | A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. |
| pancreatic ductal adenocarcinoma | A pancreas adenocarcinoma that derives_from pancreatic duct cells. |
| osteosclerotic myeloma | |
| neonatal leukemia | |
| bernard-soulier syndrome | OMIM mapping confirmed by DO. [SN]. |
| anterior cranial fossa meningioma | |
| thyroid lymphoma | |
| ocular albinism | |
| macrocytic anemia | |
| megakaryocytic tumor | |
| eyelid carcinoma | |
| capillary disease | A vascular disease that is located_in the capillaries. |
| epicondylitis | A bone inflammation disease that results_in inflammation located_in epicondyle. |
| cervicitis | |
| pleural empyema | A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath. |
| palmoplantar keratosis | A keratosis characterized by abnormal thickening of the palms and the soles. |
| cell type cancer | A cancer that is classified by the type of cell from which it is derived. |
| aggressive periodontitis | A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium. |
| pachyonychia congenita | OMIM mapping confirmed by DO. [SN]. |
| aniseikonia | |
| 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. |
| acute diffuse nephritis | |
| mucopolysaccharidosis iii | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. |
| pediatric ependymoma | |
| endolymphatic hydrops | |
| ehrlich tumor carcinoma | |
| newborn respiratory distress syndrome | A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts. |
| scimitar syndrome | |
| specific bursitis often of occupational origin | |
| normocytic anemia | |
| hypertrichosis | |
| nephrosclerosis | |
| viral esophagitis | |
| gliomatosis cerebri | |
| autosomal dominant nonsyndromic deafness | A nonsyndromic deafness characterized by an autosomal dominant inheritance mode. |
| soft palate cancer | |
| hydronephrosis | |
| 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. |
| 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. |
| danon disease | OMIM mapping confirmed by DO. [SN]. |
| bizarre leiomyoma | |
| suppurative lymphadenitis | |
| neuroectodermal tumor | |
| hemoglobinopathy | |
| thymus adenocarcinoma | A thymic carcinoma that derives_from epithelial cells of glandular origin. |
| phencyclidine abuse | A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences. |
| transient arthritis | |
| allergic rhinitis | A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites. |
| paracoccidioidomycosis | A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis. |
| merkel cell carcinoma | |
| bladder squamous cell carcinoma | A carcinoma of bladder that is manifested in squamous cells of the bladder. |
| ataxia telangiectasia | OMIM mapping confirmed by DO. [SN]. |
| thyroid hormone resistance syndrome | OMIM mapping confirmed by DO. [LS]. |
| cronkhite-canada syndrome | |
| meckel's diverticulum | OMIM mapping confirmed by DO. [SN]. |
| brucellosis | A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue. |
| wernicke-korsakoff syndrome | OMIM mapping confirmed by DO. [LS]. |
| encephalitozoonosis | A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem. |
| panhypopituitarism | |
| congenital toxoplasmosis | A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur. |
| paratyphoid fever | A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly. |
| severe nonproliferative diabetic retinopathy | |
| eunuchism | A hypogonadism that is characterized by the lack of mature male germ cells and testicular hormones. |
| brain ependymoma | |
| neuroendocrine carcinoma | A carcinoma that derives_from neuroendocrine cells. |
| 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. |
| plasma protein metabolism disease | An inherited metabolic disorder that involves plasma protein metabolism malfunction. |
| glottis cancer | |
| bladder disease | A urinary system disease that is located_in the bladder. |
| japanese spotted fever | A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities. |
| congenital mesoblastic nephroma | |
| mansonelliasis | A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies. |
| germ cell and embryonal cancer | A germ cell cancer that is derived_from a mixture of germs cells and embryonal cells. |
| poliomyelitis | A viral infectious disease that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, has_symptom muscle spasms, and has_symptom acute flaccid paralysis. |
| 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. |
| endocrine pancreas disease | |
| supravalvular aortic stenosis | |
| cryptococcosis | An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii. |
| lymphoplasmacytic lymphoma | A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells. |
| inclusion body myositis | A myositis that is characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs that can occur in a sporadic or hereditary forms. |
| bronchus carcinoma | A bronchus cancer that has_material_basis_in epithelial cells. |
| trichuriasis | A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation. |
| intestinal volvulus | |
| vasomotor rhinitis | A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food. |
| conjunctivitis | Conjunctivitis is a conjunctival disease described as a inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids, which is most commonly due to an allergic reaction or an infection (usually viral, but sometimes bacterial. Fungal infections are rare and occur mainly in people who use corticosteroid eye drops for a long time or have eye injuries involving vegetable matter. Newborns are particularly susceptible to eye infections, which they acquire from organisms in the mother's birth canal (neonatal conjunctivitis. |
| cerebral creatine deficiency syndrome | |
| marantic endocarditis | An endocarditis that results from the deposition of small sterile vegetations on valve leaflets. |
| common wart | A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection has_symptom raised wart with roughened surface, most common on hands, but can grow anywhere on the body. |
| nervous system cancer | An organ system cancer located_in the nervous sytem that affects the central or peripheral nervous system. |
| urethra adenocarcinoma | An urethra cancer that derives_from epithelial cells of glandular origin. |
| pituitary carcinoma | |
| toxic megacolon | |
| suppurative periapical periodontitis | |
| multilocular clear cell renal cell carcinoma | |
| colorectal cancer | A large intestine cancer that is located in the colon and/or located in the rectum. |
| eccrine mixed tumor of skin | |
| somatoform disorder | A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate. |
| sarcomatosis of the meninges | |
| biliary tract neoplasm | A hepatobiliary benign neoplasm located_in the biliary tract. |
| submandibular gland disease | |
| urethritis | |
| abdominal aortic aneurysm | An aortic aneurysm that is located_in the abdominal aorta. |
| keratomalacia | |
| dermoid cyst | |
| steroid inherited metabolic disorder | A lipid metabolism disorder that involves defects in steroid metabolism. |
| factor xi deficiency | OMIM mapping confirmed by DO. [SN]. |
| melorheostosis | An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex. |
| hepatocellular carcinoma | A primary malignant neoplasm of epithelial liver cells. It ranges from a well-differentiated tumor with EPITHELIAL CELLS indistinguishable from normal HEPATOCYTES to a poorly differentiated neoplasm. The cells may be uniform or markedly pleomorphic, or form GIANT CELLS. Several classification schemes have been suggested.|Tumors or cancer of the LIVER.|A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation. --2002|A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation. |
| chronic cystitis | |
| atrioventricular septal defect | A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs. |
| hypoplastic left heart syndrome | A congenital heart disease characterized by abnormal development of the left-sided structures of the heart. |
| hypotropia | |
| adamantinous craniopharyngioma | |
| prostate sarcoma | A prostate cancer that is located_in the prostate. |
| oral tuberculosis | A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located_in tongue, located_in palate, located_in maxilla or located_in mandible. |
| fibrous meningioma | |
| tuberculous epididymitis | An urogenital tuberculosis that is located_in epididymis, has_symptom pain and has_symptom scrotal swelling. |
| brain compression | |
| breast sarcoma | A breast cancer that has_material_basis_in abnormally proliferating cells derives_from mesenchymal cells. |
| hemangiopericytic tumor | |
| lip disease | |
| chronic polyneuropathy | |
| pleomorphic carcinoma | A carcinoma that is consisting of spindle or giant cells (or both) combined with squamous cell carcinoma, adenocarcinoma, or large-cell carcinoma. |
| ichthyosis vulgaris | OMIM mapping confirmed by DO. [SN]. |
| myopathy of extraocular muscle | |
| lung adenocarcinoma | A non-small cell lung carcinoma that derives_from epithelial cells of glandular origin. |
| treacher collins syndrome | OMIM mapping confirmed by DO. [SN]. |
| gastrointestinal system benign neoplasm | An organ system benign neoplasm located_in gastrointestinal tract organs. |
| coronin-1a deficiency | A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs. |
| lymphadenitis | |
| 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) |
| nephrogenic adenoma | |
| glandular cystitis | |
| testicular cancer | A male reproductive system cancer that is located_in the testicles. |
| 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. |
| loeys-dietz syndrome | |
| congenital heart disease | OMIM mapping confirmed by DO. [SN]. |
| gas gangrene | A commensal bacterial infectious disease that results_in infection, located_in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has_symptom large blisters, has_symptom pain in the infected area, has_symptom myonecrosis, has_symptom gas production, and has_symptom sepsis. |
| postgastrectomy syndrome | |
| duodenum cancer | A small intestine cancer that is located_in the beginning section of the small intestine. |
| gitelman syndrome | OMIM mapping confirmed by DO. [SN]. |
| dyshormonogenic goiter | |
| favism | A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans. |
| pancreatic somatostatinoma | |
| autosomal genetic disease | A monogenic disease that is caused by a mutation in a single gene on one of the non-sex chromosomes. |
| lung large cell carcinoma | |
| generalized anxiety disorder | An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation. |
| esophagus squamous cell carcinoma | An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus. |
| food allergy | A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system. |
| arterial tortuosity syndrome | A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta. |
| dentine erosion | |
| orbit embryonal rhabdomyosarcoma | |
| acute pulmonary heart disease | |
| lung lymphoma | |
| refractory hairy cell leukemia | A refractory hematologic cancer that is a mature B cell cancer that does not yield readily to treatment. |
| eye lymphoma | A lymphoma by site that is manifested in immune system cells called lymphocytes. |
| ovarian large-cell neuroendocrine carcinoma | |
| ethmoid sinusitis | A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead. |
| acromegaly | A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb. |
| metal metabolism disorder | An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. |
| churg-strauss syndrome | A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding. |
| 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. |
| cranial nerve neoplasm | |
| dissociative disorder | A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated). |
| ectomesenchymoma | |
| kidney benign neoplasm | |
| 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. |
| esophageal tuberculosis | A gastrointestinal tuberculosis that involves formation of tuberculous ulcers located_in esophagus. The infection has_symptom dysphagia, has_symptom cough, has_symptom chest pain, has_symptom fever and has_symptom weight loss. |
| 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. |
| eye carcinoma | An ocular cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells and arises_from the tissues that cover structures located_in the eye. |
| paralytic squint | |
| colon cancer | A colorectal cancer that is located_in the colon. |
| meige syndrome | A cranio-facial dystonia that is accompanied by blepharospasm. |
| alveolar echinococcosis | An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain. |
| myoma | |
| linitis plastica | |
| nodular malignant melanoma | A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule. |
| agnosia | A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss. |
| borjeson-forssman-lehmann syndrome | An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene. |
| spinal cord disease | |
| eustachian tube disease | A non-suppurative otitis media and eustachian tube disorder in which the tube is either too narrow or too wide. It can also be cuased by nasal inflammation which leads to inflammatory swelling and obstruction of the eustachian tube, which, in turn, leads to increased negative pressure in the middle ear and improper ventilation. |
| tympanosclerosis | |
| cerebellar ataxia | A cerebellar disease characterized by ataxia originating in the cerebellum. |
| argentine hemorrhagic fever | A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations. |
| 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. |
| nijmegen breakage syndrome | OMIM mapping confirmed by DO. [SN]. |
| eosinophilic variant of chromophobe renal cell carcinoma | |
| malignant granular cell myoblastoma | |
| thyroid cancer | An endocrine gland cancer located_in the thryoid gland located in the neck below the thyroid cartilage. |
| blue toe syndrome | |
| cerebral degeneration | |
| anterior uveitis | |
| transient hypogammaglobulinemia | |
| chordoid glioma | |
| subglottis carcinoma | |
| melanoacanthoma | |
| cleft lip | |
| acute vascular insufficiency of intestine | |
| 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. |
| hemolytic anemia | A type of anemia caused by premature destruction of red blood cells (hemolysis). |
| barrett's esophagus | Metaplasia of the lower esophagus that is characterized by replacement of squamous epithelium with columnar epithelium, occurs especially as a result of chronic gastroesophageal reflux, and is associated with an increased risk for esophageal carcinoma. |
| pituitary-dependent cushing's disease | |
| vernal conjunctivitis | |
| pelvic varices | |
| integumentary system benign neoplasm | An organ system benign neoplasm located_in the integumentary system organs. |
| phaeochromocytoma | |
| subdural empyema | |
| null-cell leukemia | |
| combined thymoma | |
| osteosarcoma | A sarcoma originating in bone-forming cells, affecting the ends of long bones. It is the most common and most malignant of sarcomas of the bones, and occurs chiefly among 10- to 25-year-old youths. (From Stedman, 25th ed)|A malignant mesenchymal tumor arising from the bone.|A usually aggressive malignant bone-forming mesenchymal tumor, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs. |
| chronic salpingitis | |
| 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). |
| multidrug-resistant tuberculosis | A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs. |
| peritoneal carcinoma | A carcinoma that is located_in the inside of the abdomen. |
| malignant pineal area germ cell neoplasm | |
| multiple cranial nerve palsy | |
| transient cerebral ischemia | |
| 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. |
| 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. |
| oral cavity cancer | A gastrointestinal system cancer that is located_in the oral cavity. |
| 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. |
| factor x deficiency | |
| andersen-tawil syndrome | A long QY syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly. |
| brain edema | |
| mixed cell type cancer | A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from two germinal layers of tissue. |
| q fever | A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia. |
| acute pancreatitis | |
| osteomalacia | A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone. |
| cystic nephroma | |
| shipyard eye | |
| parathyroid gland disease | An endocrine system disease that is located_in the parathyroid gland. |
| 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. |
| adiposis dolorosa | OMIM mapping confirmed by DO. [SN]. |
| central nervous system germ cell tumor | |
| lung acinar adenocarcinoma | |
| myxopapillary ependymoma | |
| retina lymphoma | |
| dracunculiasis | A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection. |
| osgood-schlatter's disease | A bone inflammation disease that involves rupture of the growth plate in children located_in tibia. |
| lactocele | |
| eosinophilic pneumonia | A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night. |
| t-cell adult acute lymphocytic leukemia | |
| bronchiolitis obliterans | A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults. |
| lafora disease | OMIM mapping confirmed by DO. [SN]. |
| ovarian mucinous adenofibroma | |
| giant hemangioma | |
| secondary hypertension | |
| larynx verrucous carcinoma | |
| thymus cancer | An immune system cancer located_in the thymus. |
| cell type benign neoplasm | A benign neoplasm that is classified by the type of cell or tissue from which it is derived. |
| ochronosis | |
| hand dermatosis | |
| mediastinal malignant lymphoma | |
| cerebellar medulloblastoma | A cerebellum cancer that begins in the lower part of the brain on the floor of the skull. |
| adenoid basal cell carcinoma | |
| optic papillitis | |
| apraxia | An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities. |
| embryonal cancer | A germ cell cancer that is associated with an embryo. |
| gerstmann syndrome | A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia. |
| becker muscular dystrophy | OMIM mapping confirmed by DO. [SN]. |
| renal osteodystrophy | |
| schizoid personality disorder | A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world. |
| 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. |
| autosomal recessive nonsyndromic deafness | A nonsyndromic deafness characterized by an autosomal recessive inheritance mode. |
| peritonitis | A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output. |
| idiopathic cd4-positive t-lymphocytopenia | A lymphopenia that is caused by a reduction of CD4+ T lymphocytes. |
| lagophthalmos | |
| inflammatory bowel disease | An intestinal disease characterized by inflammation located_in all parts of digestive tract. |
| bacterial pneumonia | A pneumonia involving inflammation of the lungs caused by bacteria. |
| gangliosidosis | |
| hemorrhagic thrombocythemia | A chronic myeloproliferative and megakaryocytic tumor and thrombocytosis that is a rare chronic disorder that results_in the overproduction of platelets. |
| granuloma inguinale | A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers. |
| extrahepatic bile duct carcinoma | |
| premenstrual tension | |
| pyelonephritis | |
| ovarian solid teratoma | |
| dry eye syndrome | |
| acalculous cholecystitis | |
| weill-marchesani syndrome | An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. |
| pancreatic endocrine carcinoma | An islet cell tumor that has_material_basis_in epithelial cells. |
| filamentary keratitis | |
| lumbosacral lipoma | |
| mucinous cystadenocarcinoma | A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells. |
| scleredema adultorum | |
| alkaptonuria | An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct. |
| progesterone-receptor negative breast cancer | |
| parotid gland cancer | A salivary gland cancer that is located_in the parotid gland. |
| intracranial arteriosclerosis | |
| fetal alcohol spectrum disorder | A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy. |
| 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. |
| malignant glioma | A cell type cancer that has_material_basis_in glial cells and is located_in brain or located_in spine. |
| kidney osteogenic sarcoma | A kidney sarcoma that starts in the bones and that is located_in the kidney. |
| cll/sll | A chronic lymphocytic leukemia that is characterized by the presence of immature lymphocytes in the blood and bone marrow and/or in the lymph nodes. |
| botulism | A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located_in neuromuscular junction, resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. |
| viral exanthem | |
| lymphatic system cancer | An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue. |
| porphyria | An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. |
| aniridia | OMIM mapping confirmed by DO. [SN]. |
| mutism | A speech disorder that involves a complete inability to speak. |
| temporal lobe epilepsy | |
| costello syndrome | OMIM mapping confirmed by DO. [SN]. |
| multiple personality disorder | A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities. |
| peripartum cardiomyopathy | |
| obstructive lung disease | |
| endometritis | |
| 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. |
| polydactyly | |
| brain oligodendroglioma | A brain glioma that has_material_basis_in oligodendrocytes. |
| 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. |
| anal canal squamous cell carcinoma | An anal canal cancer that derives_from epithelial squamous cells. |
| intrahepatic biliary papillomatosis | |
| anthracosilicosis | |
| 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. |
| heel spur | An exostosis that results_in an abnormal growth located_in calcaneus. |
| b-cell lymphoma | A non-Hodgkin lymphoma that has_material_basis_in B cells. |
| paraplegia | |
| baylisascariasis | A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of Baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in permanent neurologic damage, blindness, or death. |
| ganglioneuroma | |
| lynch syndrome | Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer (CRC), endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinay tract cancer) that are frequently diagnosed at an early age. Two types of HNPCC have been reported: Muir-Torre syndrome and non-polyposis Turcot syndrome (see these terms). |
| alport syndrome | A monogenic disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss. |
| alcohol abuse | A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences. |
| c1 inhibitor deficiency | A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue. |
| pyelitis | |
| pylorospasm | |
| prothrombin deficiency | OMIM mapping confirmed by DO. [SN]. |
| skull base meningioma | |
| skin papilloma | |
| physical disorder | A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. |
| ulcerative blepharitis | |
| spindle cell synovial sarcoma | |
| 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. |
| cervix erosion | |
| retinal vascular occlusion | |
| mitral valve stenosis | A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart. |
| papillary renal cell carcinoma | A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors. |
| neonatal diabetes mellitus | |
| visceral heterotaxy | A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen. |
| retinitis | |
| malignant pleural mesothelioma | A pleural cancer that has_material_basis_in mesothelium cells. |
| holocarboxylase synthetase deficiency | A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase. |
| insulinoma | A benign tumor of the PANCREATIC BETA CELLS. Insulinoma secretes excess INSULIN resulting in HYPOGLYCEMIA.|A usually benign, well circumscribed neoplasm arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin. |
| monocytic leukemia | |
| lipoma | A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue. |
| indolent myeloma | |
| 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. |
| adrenal gland disease | An endocrine system disease that is located_in the adrenal gland. |
| papillary adenocarcinoma | An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures and exhibit compressive, destructive growth that replaces the normal tissue. |
| malignant ependymoma | A malignant glioma that is derived from ependymal cells, a type of glial cell, located_in ventricle lining within the central part of the brain. |
| pulmonary systemic sclerosis | |
| sapho syndrome | |
| pulsating exophthalmos | |
| malignant ovarian surface epithelial-stromal neoplasm | |
| cough variant asthma | An asthma that is characterized by chronic nonproductive cough without shortness of breath. |
| internuclear ophthalmoplegia | |
| 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. |
| hermaphroditism | |
| hypoglycemic coma | |
| pancreatic serous cystadenoma | |
| arteriovenous malformation | An anomalous configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system. |
| dermis tumor | |
| x-linked sideroblastic anemia with ataxia | OMIM mapping confirmed by DO. [SN]. |
| seborrheic dermatitis | A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss. |
| bladder transitional cell papilloma | |
| lung carcinoma | A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis. |
| x-linked hyper igm syndrome | |
| testicular fibroma | |
| selective iga deficiency disease | A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract. |
| plasmacytoma | |
| thymus mucoepidermoid carcinoma | |
| gastric cardia carcinoma | |
| autosomal dominant microcephaly | OMIM mapping confirmed by DO. [SN]. |
| fuchs' heterochromic uveitis | A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface. |
| lymph node cancer | A lymphatic system cancer that is located_in the lymph node. |
| eosinophilia | |
| nasopharyngeal disease | |
| gastric dilatation | |
| fibrillary astrocytoma | An astrocytoma that is characterized as a low grade astrocytoma and has_material_basis_in neoplastic astrocytes. |
| scrotal carcinoma | |
| integumentary system disease | A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages. |
| evans' syndrome | |
| hemangioma of orbit | |
| multiple system atrophy | OMIM mapping confirmed by DO. [LS]. |
| cervical mucinous adenocarcinoma | |
| mononeuritis of lower limb | |
| leber hereditary optic neuropathy | OMIM mapping confirmed by DO. [SN]. |
| weissenbacher-zweymã¼ller syndrome | |
| exophthalmic ophthalmoplegia | |
| bart-pumphrey syndrome | OMIM mapping confirmed by DO. [SN]. |
| demyelinating polyneuropathy | |
| band keratopathy | OMIM mapping confirmed by DO. [SN]. |
| oral candidiasis | A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes. |
| rectum adenocarcinoma | A rectum cancer that derives_from epithelial cells of glandular origin. |
| glomangiosarcoma | |
| beckwith-wiedemann syndrome | A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations. |
| hemolytic-uremic syndrome | Xref MGI. |
| schistosomiasis | A parasitic helminthiasis infectious disease that involves infection of the intestine, urinary tract, skin, liver and spleen caused by multiple species of the trematode fluke of the genus Schistosoma. The symptoms include fever, chills, nausea, abdominal pain, diarrhea, malaise, myalgia, liver and spleen enlargement, rash and hematuria. |
| acatalasia | |
| central nervous system mesenchymal non-meningothelial tumor | |
| retinal edema | |
| keratoacanthoma | |
| paraganglioma | Xref MGI. |
| dermatofibrosarcoma protuberans | A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly. |
| embryonal rhabdomyosarcoma | A form of RHABDOMYOSARCOMA arising primarily in the head and neck, especially the orbit, of children below the age of 10. The cells are smaller than those of other rhabdomyosarcomas and are of two basic cell types: spindle cells and round cells. This cancer is highly sensitive to chemotherapy and has a high cure rate with multi-modality therapy. (From Holland et al., Cancer Medicine, 3d ed, p2188)|A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis. There are three histologic types, spindle cell, botryoid and anaplastic. |
| severe pre-eclampsia | A pre-eclampsia that has_symptom at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema or cyanosis, oliguria, persistent headaches, epigastric pain and/or impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption. |
| liver lymphoma | |
| fallopian tube carcinoma | A fallopian tube cancer that is located_in the fallopian tube. |
| vertebrobasilar insufficiency | |
| distal hereditary motor neuropathy | OMIM mapping confirmed by DO. [SN]. |
| cerebellar astrocytoma | |
| spastic ectropion | |
| panuveitis | |
| osteomyelitis | A bone inflammation disease that results_from infection located_in bone and located_in bone marrow. |
| thomsen disease | OMIM mapping confirmed by DO. [SN]. |
| peripheral vascular disease | A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain. |
| renal wilms' tumor | |
| mesenchymal chondrosarcoma | |
| endocervical carcinoma | |
| idiopathic interstitial pneumonia | A pneumonia located_in the lung parenchyma of unknown cause. |
| male infertility | |
| neuropathy | A nervous system disease that is located in the nervous system. |
| skeletal muscle cancer | |
| middle ear cholesteatoma | |
| 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. |
| polymyalgia rheumatica | |
| small intestine lymphoma | |
| peutz-jeghers syndrome | OMIM mapping confirmed by DO. [SN]. |
| rift valley fever | A viral infectious disease that results_in infection, has_material_basis_in Rift Valley fever virus, which is transmitted_by Aedes mosquitoes. The virus affects domestic animals (cattle, buffalo, sheep, goats, and camels) and humans. The infection has_symptom jaundice, has_symptom vomiting blood, has_symptom passing blood in the feces, has_symptom ecchymoses (caused by bleeding in the skin), has_symptom bleeding from the nose or gums, has_symptom menorrhagia and has_symptom bleeding from venepuncture sites. |
| genital herpes | A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands. |
| liddle syndrome | OMIM mapping confirmed by DO. [SN]. |
| riley-day syndrome | OMIM mapping confirmed by DO. [SN]. |
| ophthalmomyiasis | A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain. |
| rhinotracheitis | An upper respiratory tract disease involving inflammation of the nasal cavities and trachea caused by feline herpesvirus 1, of the family Herpesviridae in cats and especially young kittens that is characterized by sneezing, conjunctivitis with discharge, and nasal discharges. |
| rectal disease | |
| respiratory bronchiolitis-associated interstitial lung disease | An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation. |
| keratopathy | |
| trachea carcinoma | A tracheal cancer that effects the airway that leads from the larynx to the bronchi. |
| papillary transitional carcinoma | A transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium. |
| noma | |
| olfactory nerve neoplasm | |
| gastric ulcer | A peptic ulcer of the gastric mucosa. |
| familial juvenile hyperuricemic nephropathy | A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease. |
| mesenchymal cell neoplasm | A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system. |
| breast fibrocystic disease | |
| male breast cancer | |
| spongiotic dermatitis | |
| kidney cancer | A urinary system cancer that is located_in the kidney. |
| ovarian clear cell adenocarcinoma | |
| pontiac fever | A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days. |
| mandibular cancer | A jaw cancer and mandibular disease that affects your lower jawbone. |
| non-gestational choriocarcinoma | |
| nephrocalcinosis | |
| benign epilepsy with centrotemporal spikes | |
| 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. |
| hodgkin's lymphoma, mixed cellularity | |
| spastic cerebral palsy | A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements. |
| axillary lipoma | An organ system benign neoplasm located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue. |
| voyeurism | |
| queensland tick typhus | A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy. |
| chest wall lipoma | |
| phimosis | |
| childhood kidney cell carcinoma | |
| melkersson-rosenthal syndrome | OMIM mapping confirmed by DO. [SN]. |
| superficial keratitis | |
| boutonneuse fever | A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. |
| neuroleptic malignant syndrome | |
| situs inversus | OMIM mapping confirmed by DO. [LS]. |
| central sleep apnea | A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing. |
| 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. |
| 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). |
| appendix carcinoma | An appendix cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| amebiasis | A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs. |
| progressive multifocal leukoencephalopathy | A viral infectious disease that involves reactivation of JC polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma. |
| sjogren-larsson syndrome | OMIM mapping confirmed by DO. [LS]. |
| intestinal impaction | |
| pharynx cancer | A gastrointestinal system cancer that is located_in the pharyx. |
| autoimmune disease of central nervous system | An autoimmune disease of the central nervous system. |
| 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. |
| movement disease | |
| myxoid liposarcoma | OMIM mapping confirmed by DO. [SN]. |
| herpes gestationis | |
| disuse amblyopia | |
| lingual-facial-buccal dyskinesia | |
| pneumonic tularemia | A tularemia that is located_in lungs. The bacteria are transmitted_by breathing dusts or aerosols containing the organisms. The infection has_symptom cough, has_symptom chest has_symptom pain, and has_symptom difficulty breathing. |
| lymphocytic gastritis | |
| communication disorder | A specific developmental disorder that involves specific developmental disorders of speech and language. |
| blepharochalasis | |
| bagassosis | An extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic actinomycetes. |
| angiomatous meningioma | |
| t-cell large granular lymphocyte leukemia | A chronic lymphocytic leukemia that exhibits an unexplained, chronic (> 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood. |
| dysgraphia | A writing disorder that involves a deficiency in the ability to write where the writing is distorted or incorrect, spelling difficulty, poor handwriting or trouble putting thoughts on paper. |
| primary cutaneous amyloidosis | An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis. |
| oculocutaneous albinism | An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes. |
| 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. |
| ovarian carcinosarcoma | |
| 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. |
| adenocarcinoma in situ | |
| bartholin's gland adenoma | |
| 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. |
| myoblastoma | |
| vaginal adenosarcoma | A vaginal carcinosarcoma derives_from the glands that line the uterus. |
| sertoli-leydig cell tumor | |
| siderosis | |
| lens subluxation | |
| diffuse large b-cell lymphoma | Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation.|A non-Hodgkin lymphoma characterized by a diffuse proliferation of predominantly large neoplastic B lymphocytes. It is the most frequently seen type of non-Hodgkin lymphoma, representing 30%-40% of the cases. Morphologic variants include centroblastic lymphoma, immunoblastic lymphoma, and anaplastic lymphoma. Subtypes/entities include T-cell/histiocyte rich large B-cell lymphoma, primary diffuse large B-cell lymphoma of the central nervous system, plasmablastic lymphoma, primary cutaneous diffuse large B-cell lymphoma, leg type, and ALK-positive large B-cell lymphoma. |
| hyperopia | |
| pleomorphic liposarcoma | |
| fallopian tube cancer | A female reproductive organ cancer that is located_in fallopian tube. |
| neurohypophyseal diabetes insipidus | OMIM mapping confirmed by DO. [SN]. |
| prostate disease | |
| sporotrichosis | A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation. |
| color blindness | A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions. |
| breast intraductal proliferative lesion | |
| rapidly progressive glomerulonephritis | |
| scarlet fever | An upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose, throat, and mouth, generalized toxemia, and a red rash. |
| hypopyon | |
| pharyngitis | An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. The infection is often referred to as sore throat. The symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever. |
| primary open angle glaucoma | OMIM mapping confirmed by DO. [SN]. |
| conventional central osteosarcoma | |
| ileus | |
| sialadenitis | |
| alcohol-induced mental disorder | |
| yaws | A primary bacterial infectious disease that results_in infection located_in skin, located_in joint or located_in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted_by direct skin contact with an infected person. The infection has_symptom skin lesions. |
| hypersensitivity reaction type ii disease | An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues. |
| anterior scleritis | |
| heterophyiasis | A parasitic helminthiasis infectious disease that involves intestinal infection by the parasite of the genus Heterophyes. The symptoms are diarrhea and colicky abdominal pain. Migration of the eggs to the heart, results in fatal myocardial and valvular damage. Brain can also be infected. |
| genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |
| diphtheria | A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys. |
| respiratory system benign neoplasm | An organ system benign neoplasm that is located_in the respiratory system which extends from the nasal sinuses to the diaphragm. |
| klinefelter's syndrome | No OMIM mapping, confirmed by DO. [LS]. |
| viral infectious disease | A disease by infectious agent that results_in infection, has_material_basis_in Viruses. |
| hypochondroplasia | An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism. |
| benign mammary dysplasia | |
| ureterolithiasis | |
| aicardi syndrome | A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye. |
| granulomatous amebic encephalitis | A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death. |
| orbital cancer | A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis. |
| achalasia | An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing. |
| pericardial mesothelioma | |
| acute cystitis | A cystitis characterized by a sudden onset or severe symptoms. |
| intraneural perineurioma | |
| aleukemic leukemia | A leukemia that arises from changes in the tissues forming white blood cells and characterized by a normal or decreased number of white blood cells in the circulating blood. |
| histidine metabolism disease | An amino acid metabolic disorder that involves deficiency in histidine. |
| placenta accreta | A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium. |
| teratoma | A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers. |
| 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. |
| optic disk drusen | |
| ascending cholangitis | |
| subcutaneous mycosis | A fungal infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Fungi, which penetrate the dermis or even deeper during or after a skin trauma. |
| relapsing-remitting multiple sclerosis | A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles. |
| axonal neuropathy | |
| 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. |
| cartilage-hair hypoplasia | OMIM mapping confirmed by DO. [SN]. |
| diabetic polyneuropathy | |
| ciliary body cancer | |
| 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. |
| anisakiasis | A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung. |
| dressler's syndrome | A pericarditis characterized by inflammation, occurring after injury, located_in pericardium. |
| trachoma | A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea. |
| horner's syndrome | |
| immune-complex glomerulonephritis | |
| spinal cord ependymoma | A spinal cord glioma that has_material_basis_in cells linking the spinal cord central canal. |
| biliary tract disease | |
| thyroid angiosarcoma | A thyroid sarcoma and angiosarcoma that results_in a high prevalence of iodine-deficient goiter. |
| adenosquamous prostate carcinoma | A prostate carcinoma that derives_from squamous cells and gland-like cells. |
| henoch-schoenlein purpura | |
| medullomyoblastoma | |
| short bowel syndrome | |
| myositis fibrosa | |
| ophthalmia neonatorum | |
| whipple disease | |
| acromesomelic dysplasia, maroteaux type | An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the located_in vertebral column and shortening of middle and distal segments in the located_in limb. |
| acral lentiginous melanoma | A skin melanoma that is characterized by slow growth of a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin and occurs on occurs on non hair-bairing surfaces including hands and feet, subungual sites, and fingers or toes. |
| compensatory emphysema | |
| 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. |
| marasmus | |
| heart cancer | A cardiovascular cancer located_in the heart. |
| alcohol dependence | A primary, chronic disease with genetic, psychosocial, and environmental factors influencing its development and manifestations. The disease is often progressive and fatal. It is characterized by impaired control over drinking, preoccupation with the drug alcohol, use of alcohol despite adverse consequences, and distortions in thinking, most notably denial. Each of these symptoms may be continuous or periodic. (Morse & Flavin for the Joint Commission of the National Council on Alcoholism and Drug Dependence and the American Society of Addiction Medicine to Study the Definition and Criteria for the Diagnosis of Alcoholism: in JAMA 1992;268:1012-4)|Disorders related to or resulting from abuse or mis-use of alcohol. |
| pityriasis rubra pilaris | OMIM mapping confirmed by DO. [SN]. |
| luteoma | |
| autoimmune disease of the nervous system | |
| allergic asthma | An asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. Allergic asthma is airway obstruction and inflammation that is partially reversible with medication. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness. |
| smith-lemli-opitz syndrome | OMIM mapping confirmed by DO. [LS]. |
| dentinogenesis imperfecta | OMIM mapping confirmed by DO. [SN]. |
| ethmoid sinus cancer | |
| vulvar sebaceous carcinoma | |
| dyskinesia of esophagus | |
| intermittent explosive disorder | An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness. |
| aspergillosis | An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney,heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system. |
| dengue disease | A viral infectious disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom severe headache, has_symptom severe pain behind the eyes, has_symptom joint pain, has_symptom muscle and bone pain, has_symptom rash, and has_symptom mild bleeding. |
| her2-receptor positive breast cancer | |
| anterior cerebral artery infarction | |
| anthracosis | |
| cholera | A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock. |
| loiasis | A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis. |
| macular corneal dystrophy | A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea. |
| orbital plasma cell granuloma | |
| lesion of sciatic nerve | |
| ovarian mucinous cystadenocarcinoma | |
| acute cervicitis | |
| dic in newborn | |
| bladder carcinoma | A carcinoma that forms in tissues of the bladder.|Bladder carcinoma is a carcinoma arising from the bladder epithelium. Approximately 90% of the bladder carcinomas are transitional cell carcinomas. The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas.|A carcinoma that arises_from tissues of the bladder.|A carcinoma arising from the bladder epithelium. Approximately 90% of the bladder carcinomas are transitional cell carcinomas. The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas. |
| heart disease | A cardiovascular system disease that involves the heart. |
| carney complex | An autosomal dominant disease characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. |
| ovarian carcinoma | Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS. |
| sweat gland disease | |
| acute laryngitis | A laryngitis which lasts less than a few days. |
| conventional leiomyosarcoma | |
| tuberculum sellae meningioma | |
| pleural tuberculosis | An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac. |
| acute kidney failure | |
| biphasic synovial sarcoma | |
| frey syndrome | OMIM mapping confirmed by DO. [SN]. |
| sarcoid meningitis | |
| diffuse idiopathic skeletal hyperostosis | A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine. |
| motion sickness | OMIM mapping confirmed by DO. [SN]. |
| worth's syndrome | A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate. |
| clear cell acanthoma | |
| chronic lymphocytic leukemia | A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease. |
| rectal prolapse | |
| ovarian mucinous adenocarcinoma | |
| tangier disease | OMIM mapping confirmed by DO. [LS]. |
| cavernous sinus meningioma | |
| maxillary sinusitis | A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache. |
| 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. |
| uveitis | |
| endemic typhus | A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted_by fleas (Xenopsylla cheopis). The infection has_symptom headache, has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom nausea, has_symptom vomiting, has_symptom cough and has_symptom rash. |
| pulmonary blastoma | An embryoma and malignant neoplasm of lung that derives_from tissues of the lung and derives_from pleura (a thin layer of tissue that covers the lungs and lines the interior wall of the chest cavity). It is most commonly effects children. |
| middle ear carcinoma | A middle ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| brachydactyly | A bone development disease characterized by short fingers and toes. |
| charcot-marie-tooth disease | |
| female breast carcinoma | A breast carcinoma that is manifested in the female breast. |
| apocrine adenosis of breast | |
| acute porphyria | A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis. |
| pyridoxine deficiency anemia | |
| extraskeletal chondroma | |
| cutaneous mucoepidermoid carcinoma | |
| supraglottis cancer | |
| enamel erosion | |
| 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. |
| secondary hyperparathyroidism | |
| chronic dacryocystitis | |
| cerebral neuroblastoma | |
| interstitial keratitis | |
| 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. |
| nasal cavity carcinoma | A nasal cavity cancer that_has_material_basis_in epithelial cells. |
| thrombocytopenia | A blood platelet disease characterized by low a platelet count in the blood. |
| pediatric ovarian germ cell tumor | |
| aarskog-scott syndrome | A monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face. |
| bronchiolo-alveolar adenocarcinoma | |
| pneumonia | A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing. |
| prostate carcinoma | A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| globe disease | |
| adamantinoma | A bone cancer that is located_in almost exclusively in the long bones. |
| nose disease | |
| endometrial clear cell adenocarcinoma | |
| endometrial disease | |
| epicardium cancer | |
| cancerophobia | |
| vaginal disease | |
| pineoblastoma | A pineal gland neoplasm located_in the brain. |
| subendocardial myocardial infarction | |
| penile neoplasm | |
| gonadoblastoma | A cell type benign neoplasm that is composed_of a mixture of gonadal elements. |
| trigonitis | |
| incontinentia pigmenti achromians | |
| histiocytoid hemangioma | |
| vulva carcinoma | A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| varicocele | |
| intraocular lymphoma | |
| dermoid cyst of ovary | OMIM mapping confirmed by DO. [SN]. |
| epidermolytic hyperkeratosis | OMIM mapping confirmed by DO. [SN]. |
| intestinal obstruction | |
| neurodegenerative disease | A central nervous system disease that results_in the progressive deterioration of function or structure of neurons. |
| speech disorder | A communication disorder that involves difficulty with the act of speech production. |
| epidermolysis bullosa acquisita | |
| endometrial stromal tumor | |
| arteriosclerosis | An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries. |
| toxic encephalopathy | |
| middle ear adenoma | |
| choroid plexus papilloma | OMIM mapping confirmed by DO. [SN]. |
| autonomic nervous system disease | |
| tolosa-hunt syndrome | |
| acute interstitial pneumonia | A idiopathic interstitial pneumonia which develops suddenly and is severe. Initially, the lung shows edema, hyaline membranes, and interstitial acute inflammation. Later,it develops loose organizing fibrosis, mostly within alveolar septa and type II pneumocyte hyperplasia. Fever, cough, and difficulty breathing develop over 1 to 2 weeks, typically progressing to acute respiratory failure. |
| gastric adenocarcinoma | A stomach carcinoma that derives_from epithelial cells of glandular origin. |
| postencephalitic parkinson disease | |
| rheumatic myocarditis | |
| abnormal retinal correspondence | |
| erysipelas | |
| substernal goiter | |
| hypochondrogenesis | An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen. |
| klippel-trenaunay syndrome | A rare congenital syndrome characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. |
| fascioliasis | A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. During the acute phase, manifestations include abdominal pain, hepatomegaly, fever, vomiting, diarrhea, urticaria and eosinophilia. Occasionally, infection occurs in intestinal wall, lungs, subcutaneous tissue, and pharyngeal mucosa. |
| cerebral infarction | |
| 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. |
| ovarian endodermal sinus tumor | |
| benign pleural mesothelioma | |
| sigmoid colon cancer | |
| good syndrome | An agammaglobulinemia that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma. |
| postsurgical hypothyroidism | |
| prostate squamous cell carcinoma | |
| arteriolosclerosis | |
| schneckenbecken dysplasia | |
| pineal region meningioma | |
| appendix adenocarcinoma | An appendix carcinoma that derives_from epithelial cells of glandular origin. |
| legg-calve-perthes disease | An osteochondrosis that results_in death and fracture located_in hip joint. |
| optic neuritis | An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision. |
| lacrimal apparatus disease | |
| amelanotic melanoma | |
| aland island eye disease | |
| benign ependymoma | |
| acute monocytic leukemia | OMIM mapping confirmed by DO. [SN]. |
| biotinidase deficiency | A multiple carboxylase deficiency that involves a deficiency in biotinidase. |
| mesenchymoma | |
| primary syphilis | A syphilis that is the first stage of syphilis, marked by the development of a chancre, which is characterized by mononuclear leukocytic infiltration, macrophages, and lymphocytes. |
| ureter carcinoma | An ureter cancer that is located_in the ureter. |
| osteochondritis dissecans | An ischemic bone disease that results_in necrosis located_in epiphysis. |
| tungiasis | A parasitic ectoparasitic infectious disease that is an inflammatory skin disease caused by the parasitic infestation of the female chigoe flea, Tunga penetrans in animals and humans. The symptoms include skin inflammation, severe pain, itching, and a lesion at the site of infection that is characterized by a black dot at the center of a swollen red lesion, surrounded a white halo. |
| tooth erosion | |
| photosensitivity disease | |
| exhibitionism | |
| intrahepatic cholangiocarcinoma | |
| eccrine porocarcinoma | |
| trichostrongyloidiasis | A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea. |
| acute endophthalmitis | |
| radioulnar synostosis | OMIM mapping confirmed by DO. [SN]. |
| oculocerebrorenal syndrome | OMIM mapping confirmed by DO. [SN]. |
| malignant triton tumor | |
| palindromic rheumatism | A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms. |
| sulfhemoglobinemia | |
| parasitic helminthiasis infectious disease | A parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes. |
| splenic marginal zone lymphoma | A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp. |
| narcolepsy | A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work. |
| breast lymphoma | |
| ureteral obstruction | |
| mixed-type liposarcoma | |
| appendix cancer | A intestinal cancer that is located_in the appendix. |
| post-thrombotic syndrome | A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis. |
| infratentorial cancer | A brain cancer that is located_in the infratentorial region. |
| hepatoerythropoietic porphyria | |
| chromophobe adenocarcinoma | A renal cell carcinoma that has_material_basis_in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells. |
| syndromic intellectual disability | An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms. |
| frozen shoulder | |
| myositis | An inflammatory process affecting the skeletal muscles. Causes include infections, injuries, and autoimmune disorders.|Inflammation of a muscle or muscle tissue. |
| hallucinogen dependence | A drug dependence that involves the continued use of hallucinogenic drugs despite problems related to use of the substance. |
| turner syndrome | No OMIM mapping, confirmed by DO. [LS]. |
| rapadilino syndrome | |
| protein-energy malnutrition | |
| retinal perforation | |
| autistic disorder | An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years. |
| 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. |
| sebaceous gland neoplasm | |
| non-functioning pancreatic endocrine tumor | |
| oculomotor nerve paralysis | |
| farmer's lung | An extrinsic allergic alveolitis which is induced by the inhalation of spores (Aspergillus sp and thermophilic actinomycetes) in dust from moldy hay or straw. It is characterized by sudden onset, fever, cough, expectoration, and breathlessness. |
| afferent loop syndrome | |
| attention deficit hyperactivity disorder | A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-IV) |
| carotid artery occlusion | |
| pyosalpinx | |
| spindle cell rhabdomyosarcoma | |
| mucinous intrahepatic cholangiocarcinoma | |
| pathologic nystagmus | |
| epidermolytic acanthoma | |
| myiasis | A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue. |
| brain disease | |
| thalassemia | OMIM mapping confirmed by DO. [LS]. |
| 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. |
| cryptorchidism | Cryptorchidism (derived from the Greek κρυπτός, kryptos, meaning hidden and ὄρχις, orchis, meaning testicle) is the absence of one or both testes from the scrotum. It is the most common birth defect regarding male genitalia. In unique cases, cryptorchidism can develop later in life, often as late as young adulthood. About 3% of full-term and 30% of premature infant boys are born with at least one undescended testis. However, about 80% of cryptorchid testes descend by the first year of life (the majority within three months), making the true incidence of cryptorchidism around 1% overall. Cryptorchidism is distinct from monorchism the condition of having only one testicle. |
| vaginal discharge | |
| dental caries | Localized destruction of the tooth surface initiated by decalcification of the enamel followed by enzymatic lysis of organic structures and leading to cavity formation. If left unchecked, the cavity may penetrate the enamel and dentin and reach the pulp. The three most prominent theories used to explain the etiology of the disease are that acids produced by bacteria lead to decalcification; that micro-organisms destroy the enamel protein; or that keratolytic micro-organisms produce chelates that lead to decalcification. |
| 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. |
| mesoblastic nephroma | A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life. |
| esophageal candidiasis | A candidiasis that involves fungal infection of the esophagus by Candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain. |
| hormone producing pituitary cancer | |
| peritoneal mesothelioma | A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum. |
| cystinosis | |
| bipolar i disorder | A bipolar disorder that is characterized by at least one manic or mixed episode. |
| cecum carcinoma | A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| testicular granulosa cell tumor | |
| nontoxic goiter | |
| israeli tick typhus | A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities. |
| congenital epulis | |
| mesenteric lymphadenitis | |
| peroneal neuropathy | |
| endocervicitis | |
| hypothalamic disease | |
| central nervous system primitive neuroectodermal neoplasm | |
| 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) |
| intravascular fasciitis | |
| fissured tongue | OMIM mapping confirmed by DO. [SN]. |
| meniere's disease | A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss. |
| indeterminate leprosy | A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules. |
| synovial sarcoma | A synovium cancer which develops in the synovial membrane of the joints. |
| nodular hidradenoma | |
| fasciitis | |
| anhidrosis | OMIM mapping confirmed by DO. [SN]. |
| adenofibroma | A cell type benign neoplasm that is composed_of glandular and fibrous tissues, with a relatively large proportion of glands. |
| parasitic protozoa infectious disease | A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes. |
| retrograde amnesia | An amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection. |
| lymphangioma | |
| subvalvular aortic stenosis | |
| asphyxia neonatorum | |
| male reproductive system disease | A reproductive system disease that affects male reproductive organs. |
| smallpox | A viral infectious disease that results_in infection located_in skin, has_material_basis_in Variola virus, which is transmitted_by droplets from oral, nasal or pharyngeal mucosa, transmitted_by contact with the body fluids, or transmitted_by fomites. The infection results_in_formation_of lesions, first on the face, hands and forearms and later on the trunk. |
| 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. |
| gonadal dysgenesis | A hypogonadism that is characterized by a progressive loss of germ cells on the developing gonads of an embryo. |
| pre-eclampsia | A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy. |
| supine hypotensive syndrome | A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus. |
| neuromuscular junction disease | A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction. |
| breast ductal carcinoma | A breast carcinoma that derives_from the lining of milk ducts. |
| 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. |
| lung adenoma | |
| hereditary mucosal leukokeratosis | A skin disease characterized by a defect in the normal process of keratinization of the mucosa. |
| peripheral nerve sheath neoplasm | A peripheral nervous system neoplasm that is located_in the connective tissue surrounding nerves. |
| vein disease | A vascular disease that is located_in a vein. |
| 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. |
| kidney rhabdoid cancer | A embryonal cancer that is located in the kidney. |
| basophil adenoma | |
| diffuse infiltrative lymphocytosis syndrome | A syndrome that occurs in human immunodeficiency virus (HIV) positive patients, which is accompanied by decreased kidney function. The spectrum of kidney involvement includes acute or chronic kidney disease, primarily tubular proteinuria and dense lymphocytic tubulointerstitial infiltrates predominantly composed of CD8 T cells. |
| rh deficiency syndrome | OMIM mapping confirmed by DO. [SN]. |
| beta-ketothiolase deficiency | OMIM mapping confirmed by DO. [SN]. |
| gastrointestinal stromal tumor | OMIM mapping confirmed by DO. [SN]. |
| auditory agnosia | An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal. |
| congenital hemolytic anemia | |
| transient neonatal neutropenia | |
| infertility | Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility. |
| cervix disease | |
| fungal meningitis | |
| 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. |
| sebaceous adenoma | |
| clear cell sarcoma | A sarcoma that is characterized by solid nests and fascicles of tumor cells with clear cytoplasm and prominent nucleoli. It presents as a slow growing mass that especially affects tendons and aponeuroses and it is deeply situated. |
| werdnig-hoffmann disease | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| angelman syndrome | OMIM mapping confirmed by DO. [SN]. |
| atypical polypoid adenomyoma | |
| type vi ehlers-danlos syndrome | OMIM mapping confirmed by DO. [LS]. |
| pulmonary valve insufficiency | A pulmonary valve disease that occurs when the pulmonary valve is not strong enough to prevent backflow into the right ventricle. If it is secondary to pulmonary hypertension it is referred to as a Graham Steell murmur. |
| coronary artery disease | Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE).|Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause.|Narrowing of the coronary arteries due to fatty deposits inside the arterial walls.|An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels. |
| chronic follicular conjunctivitis | |
| osteopoikilosis | An osteosclerosis that results_in numerous bone islands located_in skeleton. |
| platelet storage pool deficiency | |
| inflammatory leiomyosarcoma | |
| ciliary body disease | |
| diencephalic neoplasm | |
| cholangiocarcinoma | |
| calciphylaxis | |
| infectious mononucleosis | A viral infectious disease that results_in inflammation, located_in pharynx, has_material_basis_in Human herpesvirus 4 and has_symptom fever, has_symptom fatigue, has_symptom lymphadenopathy, and has_symptom splenomegaly. |
| eosinophilic gastritis | |
| plexopathy | |
| kleptomania | An impulse control disorder that involves the repeated impulse to steal for no great gain, when he or she has sufficient money to pay for the item and no need for what is stolen. |
| commensal bacterial infectious disease | A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder. |
| uveal cancer | |
| aspartylglucosaminuria | OMIM mapping confirmed by DO. [SN]. |
| gray zone lymphoma | A lymphoma that is characterized by having cellular features of both classic Hodgkin's lymphomas and large B-cell Lymphomas. |
| disseminated intravascular coagulation | |
| serous labyrinthitis | A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections. |
| protein-losing enteropathy | OMIM mapping confirmed by DO. [SN]. |
| lateral myocardial infarction | |
| vaginal adenoma | |
| cryptogenic organizing pneumonia | An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope. |
| piebaldism | OMIM mapping confirmed by DO. [SN]. |
| gastric small cell carcinoma | |
| hypersplenism | |
| canavan disease | OMIM mapping confirmed by DO. [SN]. |
| capgras syndrome | A delusional disorder in which a person holds a delusion that a friend, spouse, parent, or other close family member has been replaced by an identical-looking impostor. |
| pancreas disease | An endocrine system disease that is located_in the pancreas. |
| portal vein thrombosis | A vein disease that is characterized by a blood clot that forms within the hepatic portal vein. |
| diffuse glomerulonephritis | |
| lupus erythematosus | |
| blepharoconjunctivitis | A blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis. |
| villonodular synovitis | |
| cerebral arteritis | |
| anteroseptal myocardial infarction | |
| mixed endometrial stromal and smooth muscle tumor | |
| cholesteatoma | |
| myelitis | |
| orbital periostitis | |
| opioid abuse | A substance abuse that involves the recurring use of opioid drugs despite negative consequences. |
| angiomyoma | |
| cystic kidney | |
| breast disease | A thoracic disease that is located_in the breast. |
| hydrops of gallbladder | |
| sella turcica neoplasm | |
| female reproductive organ benign neoplasm | |
| epithelioid cell melanoma | |
| sea-blue histiocyte syndrome | OMIM mapping confirmed by DO. [SN]. |
| neonatal jaundice | A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant. |
| signet ring cell adenocarcinoma | An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which have signet ring appearance. |
| melioidosis | A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain. |
| spinocerebellar ataxia | A spinocerebellar degeneration that is characterized by degeneration of the cerebellum leading to loss of muscle coordination. |
| wermer syndrome | An autosomal dominant disease that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas. |
| extrahepatic bile duct adenocarcinoma | An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin. |
| prolapse of female genital organ | |
| 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. |
| spinal canal and spinal cord meningioma | |
| acrocephalosyndactylia | A synostosis that results_in craniosynostosis and syndactyly. |
| right bundle branch block | |
| endodermal sinus tumor | A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo. |
| necrosis of pituitary | |
| coronary thrombosis | |
| corpus luteum cyst | |
| urinary bladder cancer | An urinary system cancer that results_in malignant growth located_in the urinary bladder. |
| colloid carcinoma of the pancreas | |
| fatal infantile encephalocardiomyopathy | A mitochondrial metabolism disease that has_material_basis_in a mutation in the SCO2 gene which encodes a COX assembly factor and results in deficiency of cytochrome c oxidase. |
| seborrheic infantile dermatitis | A seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown scales over the child's scalp. |
| prediabetes syndrome | |
| choanal atresia | OMIM mapping confirmed by DO. [SN]. |
| neonatal period electroclinical syndrome | An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age. |
| dumping syndrome | |
| ischemic fasciitis | |
| fallopian tube gestational choriocarcinoma | |
| acute myocardial infarction | |
| crescentic glomerulonephritis | |
| molluscum contagiosum | A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center. |
| gallbladder squamous cell carcinoma | |
| 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. |
| refractory hematologic cancer | A hematologic cancer that is located_in the blood or bone marrow that doesn't respond to treatment. |
| dravet syndrome | An epilepsy that is characterized by frequent febrile seizures with onset before 1 year. |
| glycogen storage disease vii | OMIM mapping confirmed by DO. [SN]. |
| netherton syndrome | OMIM mapping confirmed by DO. [SN]. |
| freemartinism | |
| embryonal testis carcinoma | An embryonal carcinoma that is located_in the testis. |
| anterior ischemic optic neuropathy | |
| adrenal adenoma | An endocrine organ benign neoplasm that is a benign tumor of the glandular type (adenoma) in the adrenal gland. |
| optic nerve sheath meningioma | |
| germinoma | A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain. |
| growth hormone secreting pituitary adenoma | OMIM mapping confirmed by DO. [SN]. |
| botryoid rhabdomyosarcoma | |
| gnathomiasis | A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis. |
| brain angioma | |
| gastroparesis | |
| lymphoepithelioma-like carcinoma | A carcinoma that is a malignant epithelial neoplasm densely infiltrated by lymphoid cells. |
| bone lymphoma | A bone cancer and lymphoma by site that results_in lymphoma starting in the bone. |
| nasal cavity adenocarcinoma | A nasal cavity carcinoma that derives_from epithelial cells of glandular origin. |
| non-hodgkin lymphoma | A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma. |
| cerebral meningioma | |
| focal dystonia | A dystonia that is localized to a specific part of the body. |
| malignant anus melanoma | |
| 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. |
| bladder sarcoma | A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder. |
| integumentary system cancer | An organ system cancer that is located_in the skin, hair and nails. |
| panniculitis | |
| eosinophilic meningitis | |
| ocular hyperemia | |
| cardia cancer | |
| hepatoblastoma | |
| acute retinal necrosis syndrome | |
| bilateral retinoblastoma | A retinoblastoma that develops in both eyes. |
| cranial nerve disease | A neuropathy that is located_in one of the twelve cranial nerves. |
| central neurocytoma | |
| megaesophagus | |
| mesangial proliferative glomerulonephritis | |
| candidiasis | An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons. |
| obsessive-compulsive personality disorder | A personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency. |
| bladder neck obstruction | |
| leukostasis | |
| diffuse scleroderma | |
| pituitary hypoplasia | |
| retinal ischemia | |
| tanycytic ependymoma | |
| von hippel-lindau disease | OMIM mapping confirmed by DO. [LS]. |
| peripheral osteosarcoma | |
| syphilitic meningitis | |
| anal carcinoma in situ | |
| acute thyroiditis | |
| schizophreniform disorder | A psychotic disorder that involves schizophrenia symptoms over time period of one month. |
| inferior myocardial infarction | |
| rheumatic fever | |
| keratoconjunctivitis sicca | |
| benign familial neonatal epilepsy | |
| capillary lymphangioma | |
| congenital nystagmus | A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction. |
| 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. |
| otospondylomegaepiphyseal dysplasia | An osteochondrodysplasia that results from mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss. |
| adult lymphoma | |
| neuromyelitis optica | A central nervous system disease characterized by acute neuritis located_in eye and demyelination located_in optic nerve and located_in spinal cord. |
| 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. |
| chorioangioma | |
| disease of anatomical entity | A disease that manifests in a defined anatomical structure. |
| wilson disease | OMIM mapping confirmed by DO. [SN]. |
| carcinoma | A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. |
| smoldering myeloma | A multiple myeloma that is a slow growing type of myeloma in which abnormal plasma cells results_in too much of a single type of monoclonal antibody. |
| extraocular retinoblastoma | A retinoblastoma that has spread from the soft tissues surrounding the eye or to the optic nerve beyond the margin of resection to other parts of the body. |
| bladder lymphoma | |
| partial motor epilepsy | |
| toxocariasis | A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions. |
| carcinosarcoma | A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. |
| peritoneal benign neoplasm | An organ system benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom. |
| acute diarrhea | A diarrhea that is of rapid onset and course characterized by 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. |
| episodic ataxia | A neuromuscular disease characterized by sporadic bouts of ataxia with or without continuous muscle movement. |
| scleral disease | |
| pseudopapilledema | OMIM mapping confirmed by DO. [SN]. |
| achilles bursitis | |
| acquired immunodeficiency syndrome | A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per µL of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS. |
| small cell carcinoma | A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. |
| small cell sarcoma | |
| lung occult squamous cell carcinoma | |
| neuroschistosomiasis | A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure. |
| spinal cord melanoma | |
| low compliance bladder | |
| optic nerve glioma | |
| galactosemia | A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. |
| unverricht-lundborg syndrome | OMIM mapping confirmed by DO. [LS]. |
| meningeal melanocytoma | |
| 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. |
| pseudopterygium | |
| listeria meningitis | |
| erythematosquamous dermatosis | |
| conidiobolomycosis | An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions. |
| carotid body cancer | A vascular cancer that is characterized by an encapsulated, firm round mass at the bifurcation of the common carotid artery. |
| erdheim-chester disease | |
| kimura disease | |
| spinal meningioma | |
| biotin-responsive basal ganglia disease | OMIM mapping confirmed by DO. [SN]. |
| giant papillary conjunctivitis | |
| type 2 diabetes mellitus | A diabetes mellitus that involves high blood glucose resulting from cells fail to use insulin properly. |
| beriberi | |
| vasculogenic impotence | |
| craniodiaphyseal dysplasia | An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal. |
| testicular pure germ cell tumor | |
| bronchiolitis obliterans organizing pneumonia | An obstructive lung disease that involves granulation tissue plugs within lumens of small airways, sometimes with complete obstruction of small airways and granulation tissue extending into alveolar ducts and alveoli. |
| stomach carcinoma | A stomach cancer that is located_in the stomach. |
| discitis | |
| facial nerve disease | |
| herpangina | A viral infectious disease that results_in infection located_in mouth, has_material_basis_in Human coxsackievirus A16, has_material_basis_in Human enterovirus 71, has_material_basis_in group B coxsackievirus, or has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom sore throat, and has_symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars. |
| cd3epsilon deficiency | A severe combined immunodeficiency that is an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. |
| 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. |
| urethral obstruction | |
| chromophobe adenoma | |
| vulvar disease | |
| cerebral arterial disease | |
| endometrial squamous cell carcinoma | |
| endocardium disease | A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart. |
| otitis interna | A otitis which involves inflammation of the inner ear. |
| pelvic lipomatosis | |
| cerebral falx meningioma | |
| median rhomboid glossitis | |
| hereditary choroidal atrophy | |
| chronic endophthalmitis | |
| fetal erythroblastosis | |
| eclampsia | A pre-eclampsia characterized by the presence of seizures. |
| myofascial pain syndrome | |
| malignant fibrous histiocytoma of bone | |
| tertiary syphilis | A syphilis that is characterized as the third stage of syphilis that develops after the disappearance of the secondary symptoms and is marked by ulcers and gummas under the skin and commonly by involvement of the skeletal, cardiovascular, and nervous systems. |
| mhc class i deficiency | OMIM mapping confirmed by DO. [SN]. |
| alcohol-related neurodevelopmental disorder | A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure. |
| gastroesophageal reflux disease | Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER. |
| chronic obstructive pulmonary disease | A group of disorders affecting the bronchi and the lung parenchyma. It is characterized by chronic and irreversible obstruction of the airflow. It includes chronic bronchitis and pulmonary emphysema.|A disease of chronic diffuse irreversible airflow obstruction. Subcategories of COPD include CHRONIC BRONCHITIS and PULMONARY EMPHYSEMA.|A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema. |
| impotence | |
| 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. |
| root caries | |
| invasive aspergillosis | An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage. |
| drug psychosis | |
| atrophic gastritis | |
| testicular malignant germ cell cancer | |
| meninges hemangiopericytoma | |
| idiopathic corneal edema | |
| emery-dreifuss muscular dystrophy | A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle. |
| scrapie | |
| alternating exotropia | |
| 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). |
| spermatocytoma | |
| lymphoid leukemia | |
| skin pilomatrix carcinoma | |
| carotenemia | |
| lymphangioleiomyomatosis | |
| diabetes insipidus | |
| cercarial dermatitis | A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has_symptom skin reddening, has_symptom skin itching, in the water or immediately after emerging and has_symptom itchy, raised papules, occur within hours of infection. |
| inflammatory breast carcinoma | |
| 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. |
| wolman disease | |
| aortic valve stenosis | An aortic valve disease that has_physical_basis_in incomplete opening of the aortic valve. |
| amnestic disorder | A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information. |
| auditory system cancer | An organ system cancer located_in the ear and characterized by uncontrolled cellular proliferation of the auditory organs. |
| breast adenocarcinoma | A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast. |
| cloacogenic carcinoma | OMIM mapping confirmed by DO. [SN]. |
| placental choriocarcinoma | |
| sensory organ benign neoplasm | A nervous system benign neoplasm that is located_in a sensory organ. |
| myeloid leukemia | A leukemia that is located_in myeloid tissue. |
| trichostrongylosis | A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia. |
| 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. |
| large cell carcinoma with rhabdoid phenotype | |
| diffuse lipomatosis | |
| nodular prostate | |
| granulomatous gastritis | |
| varicose veins | A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin. |
| rubella | A viral infectious disease that results_in infection located_in skin, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom rash on the face which spreads to the trunk and limbs, has_symptom fever, has_symptom lymphadenopathy, has_symptom joint pains, has_symptom headache, and has_symptom conjunctivitis. |
| precursor t-lymphoblastic lymphoma/leukemia | |
| dental enamel hypoplasia | |
| rabies | A viral infectious disease that results_in inflammation located_in brain or located_in spinal cord, has_material_basis_in Rabies virus, which is transmitted_by bite of an infected animal, or transmitted_by contact of mucous membranes with saliva of an infected animal. The infection has_symptom fever, has_symptom headache, has_symptom prickling or itching sensation at the site of bite, has_symptom anxiety, has_symptom confusion, has_symptom agitation, has_symptom delirium, has_symptom difficulty swallowing, has_symptom hydrophobia, and has_symptom paralysis. |
| buphthalmos | OMIM mapping confirmed by DO. [LS]. |
| cerebral ventricle cancer | A cerebrum cancer that is located_in the cerebral ventricles. |
| parasagittal meningioma | |
| ovarian germ cell monodermal and highly specialized teratoma | |
| basaloid squamous cell carcinoma | A squamous cell carcinoma that has a solid, closely packed growth of cells with hyperchromatic nuclei, scant cytoplasm, small cystic spaces, and foci of necrosis. It has overlying squamous dysplasia, rare foci of overt keratinization, and/or coexistent keratinizing squamous cell carcinoma. |
| marburg hemorrhagic fever | A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Marburgvirus, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding. |
| intraductal papilloma | |
| laryngeal benign neoplasm | |
| reading disorder | A learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process. |
| human immunodeficiency virus infectious disease | A viral infectious disease that results_in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has_symptom diarrhea, has_symptom fatigue, has_symptom fever, has_symptom vaginal yeast infection, has_symptom headache, has_symptom mouth sores, has_symptom muscle aches, has_symptom sore throat, and has_symptom swollen lymph glands. |
| posterolateral myocardial infarction | |
| appendiceal neoplasm | |
| desquamative interstitial pneumonia | An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation. |
| tendinitis | |
| testicular leukemia | |
| 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. |
| neuroendocrine tumor | An endocrine gland cancer that has_material_basis_in neuroendocrine cells. |
| diaphragmatic eventration | |
| reactive arthritis | An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body. |
| seborrheic keratosis | OMIM mapping confirmed by DO. [SN]. |
| thymic dysplasia | |
| ileum cancer | A small intestine cancer that is located_in the ileum. |
| miliary tuberculosis | An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs. |
| retinal vascular disease | |
| periarthritis | |
| achondrogenesis type ia | An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine. |
| pleomorphic rhabdomyosarcoma | |
| cervical carcinosarcoma | |
| syringomyelia | |
| chronic inflammation of lacrimal passage | |
| amenorrhea | |
| atrophic glossitis | |
| c-p angle neurinoma | |
| ampulla of vater adenocarcinoma | An ampulla of Vater carcinoma that derives_from epithelial cells of glandular origin. |
| amyloidosis | An acquired metabolic disease that involves abnormal deposited of amyloid proteins in organs and/or tissues. |
| lung cancer | A respiratory system cancer that is located_in the lung. |
| writing disorder | A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition. |
| sclerosing cholangitis | |
| chorea gravidarum | |
| acute salpingitis | |
| cicatricial ectropion | |
| gallbladder papillomatosis | |
| 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. |
| 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). |
| skull base neoplasm | |
| 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. |
| hypothyroidism | A deficiency of thyroid hormone. |
| pseudopseudohypoparathyroidism | OMIM mapping confirmed by DO. [SN]. |
| fasciolopsiasis | A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Fasciolopsis buski. The symptoms include diarrhea, abdominal pain, fever, ascites, anasarca and intestinal obstruction. |
| chondroblastic osteosarcoma | |
| tracheal lymphoma | |
| x-linked nonsyndromic deafness | A nonsyndromic deafness characterized by an X-linked inheritance mode. |
| tenosynovial giant cell tumor | |
| conjunctival degeneration | |
| cherubism | OMIM mapping confirmed by DO. [SN]. |
| portal hypertension | |
| transverse colon cancer | |
| pancreatic gastrinoma | |
| recombinase activating gene 1 deficiency | A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. |
| 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. |
| erythrokeratodermia variabilis | OMIM mapping confirmed by DO. [SN]. |
| dendritic cell sarcoma | A histiocytic and dendritic cell cancer that is mainly located_in lymph nodes. |
| periapical periodontitis | |
| squamous cell neoplasm | A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities. |
| mongolian spot | |
| spinal muscular atrophy | A motor neuron disease that is a degenerative neuromuscular disease characterized by motor neuron degeration. |
| spindle cell hemangioma | |
| squamous blepharitis | |
| spondylolisthesis | A bone structure disease that has_material_basis_in displacement located_in set of vertebrae. |
| adenosquamous cell lung carcinoma | |
| follicular mucinosis | |
| muscular atrophy | |
| pleomorphic lipoma | A lipoma that is characterized by floret giant cells with overlapping nuclei. |
| glucose intolerance | |
| nephroblastoma | A kidney cancer that affects the kidneys and typically located_in children. |
| vagus nerve neoplasm | |
| 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. |
| cushing's syndrome | An adrenal gland hyperfunction that is caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland. |
| shwartzman phenomenon | |
| neuroma | A nervous system benign neoplasm that is characterized as a nerve tissue tumor. |
| 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. |
| pearson syndrome | A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction. |
| hemoglobinuria | |
| craniofrontonasal syndrome | OMIM mapping confirmed by DO. [SN]. |
| gallbladder disease | A gastrointestinal system disease that is located_in the gallbladder. |
| natural killer cell leukemia | |
| addison's disease | An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands. |
| 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. |
| liver carcinoma | A liver cancer that has_material_basis_in epithelial cells. |
| charcot-marie-tooth disease type x | |
| arachnoiditis | |
| pinguecula | |
| 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). |
| lymphoblastic leukemia | A leukemia that has_material_basis_in lymphoblasts (immature white blood cells). |
| landau-kleffner syndrome | OMIM mapping confirmed by DO. [SN]. |
| pancreatic carcinoma | A carcinoma that is manifested in cells found in the tissues of the pancreas.|Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA).|A carcinoma that is located_in cells found in the tissues of the pancreas. |
| anus basaloid carcinoma | |
| binder syndrome | OMIM mapping confirmed by DO. [SN]. |
| balanoposthitis | |
| ovarian angiosarcoma | |
| 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). |
| paralytic lagophthalmos | |
| acute kidney tubular necrosis | |
| legionnaires' disease | A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough. |
| acute hemorrhagic conjunctivitis | A viral infectious disease that results_in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted_by contaminated fomites or transmitted_by contact with contaminated hands. The infection has_symptom vascular dilation, has_symptom eyelid edema, has_symptom photophobia, has_symptom redness of the eyes, has_symptom watering of the eye, has_symptom conjunctival congestion, and has_symptom superficial punctate epithelial keratitis. |
| t cell deficiency | |
| bilirubin metabolic disorder | An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism. |
| 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. |
| tubular adenocarcinoma | An adenocarcinoma that derives_from epithelial cells originating in glandular tissue. The tumor has branched angular tubules embedded in a loose fibrous stroma. |
| epithelioid malignant peripheral nerve sheath tumor | |
| adrenocortical carcinoma | An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| plasma cell neoplasm | |
| red-green color blindness | Xref MGI. |
| gestational diabetes | |
| mixed liposarcoma | |
| breast scirrhous carcinoma | |
| maxillary sinus adenoid cystic carcinoma | |
| lymphedema | |
| synchronous bilateral breast carcinoma | |
| 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. |
| 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. |
| antiphospholipid syndrome | A hypersensitivity reaction type II disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin). |
| angle-closure glaucoma | |
| keshan disease | |
| rectosigmoid cancer | |
| metabolic syndrome x | OMIM mapping confirmed by DO. [SN]. |
| neonatal thyrotoxicosis | |
| 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. |
| bile duct disease | |
| bruxism | A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping. |
| ariboflavinosis | |
| vulvar glandular tumor | |
| vascular skin disease | |
| balanitis xerotica obliterans | |
| muir-torre syndrome | OMIM mapping confirmed by DO. [SN]. |
| non-small cell lung carcinoma | A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy. |
| immune system organ benign neoplasm | An organ system benign neoplasm located_in the immune system organs. |
| apocrine adenocarcinoma | An apocrine sweat gland cancer that derives_from epithelial cells of glandular origin. |
| gallbladder cancer | A biliary tract cancer that is located_in the gallbladder. |
| brain infarction | |
| ureter leiomyoma | |
| ceruminoma | |
| overnutrition | Updated outdated UMLS CUI. |
| endometrial transitional cell carcinoma | |
| 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. |
| 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. |
| partial optic atrophy | |
| language disorder | A communication disorder that involves the processing of linguistic information. |
| hypervitaminosis d | |
| acute endometritis | |
| dendritic cell thymoma | |
| accommodative esotropia | |
| psph deficiency | A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine. |
| frontal convexity meningioma | |
| breast metaplastic carcinoma | |
| intestinal perforation | |
| testicular leydig cell tumor | |
| lassa fever | A viral infectious disease that results_in infection, has_material_basis_in Lassa virus, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding. |
| hepatopulmonary syndrome | |
| duodenal benign neoplasm | |
| acute orbital inflammation | |
| orbital disease | An adnexa disease that is located_in the eye socket. |
| craniopharyngioma | |
| cauda equina syndrome | A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord. |
| frontal sinus squamous cell carcinoma | |
| sideroblastic anemia | An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). |
| iridocyclitis | |
| basal ganglia disease | |
| pineal gland cancer | An endocrine gland located_in the pineal gland located in the brain. |
| vitreous detachment | |
| ametropic amblyopia | |
| asphyxiating thoracic dystrophy | OMIM mapping confirmed by DO. [SN]. |
| irregular astigmatism | |
| stickler syndrome | OMIM mapping confirmed by DO. [SN]. |
| telangiectasis | |
| lower urinary tract calculus | A urinary system disease that is located_in the lower urinary tract and is characterized by the formation of a stone. |
| hypertensive encephalopathy | |
| williams-beuren syndrome | OMIM mapping confirmed by DO. [LS]. |
| erysipeloid | A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin. |
| intracranial structure hemangioma | |
| dengue hemorrhagic fever | A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. |
| gangliosidosis gm2 | |
| prostate rhabdomyosarcoma | A rhabdomyosarcoma and sarcoma of prostate that is located_in the prostate. |
| sheehan syndrome | |
| cognitive disorder | A disease of mental health that affects cognitive functions including memory processing, perception and problem solving. |
| chordoid meningioma | |
| familial partial lipodystrophy | A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. |
| kennedy's disease | |
| bloch-sulzberger syndrome | OMIM mapping confirmed by DO. [SN]. |
| locked-in syndrome | |
| adult xanthogranuloma | |
| rocky mountain spotted fever | A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash. |
| fallopian tube squamous cell carcinoma | |
| spondyloepimetaphyseal dysplasia | An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis. |
| cutaneous lupus erythematosus | A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight. |
| dental fluorosis | |
| giant cell glioblastoma | A glioblastoma multiforme that is characterized by a prevalence of bizarre, multinucleated giant cells. |
| seasonal affective disorder | A mental depression that involves presentation of depressive symptoms only during a specific season of the year. |
| developmental coordination disorder | A specific developmental disorder that involves disordered motor skills where coordinated muscle movement is impaired. |
| otomycosis | A otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. It is characterized by inflammation, pruritus, scaling and severe discomfort. The most common fungi are Aspergillus niger and Candida albicans. |
| von economo's disease | |
| metachromatic leukodystrophy | A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system. |
| basidiobolomycosis | A subcutaneous mycosis that involves a chronic inflammatory or granulomatous fungal infection of the subcutaneous tissue of the limbs, chest, back or buttocks caused by Basidiobolus ranarum. Lesions appear as subcutaneous nodules which develop into massive, firm, indurated, painless swellings which are freely movable over the underlying muscle, but are attached to the skin which may become hyperpigmented but not ulcerated. |
| corneal ulcer | |
| 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. |
| mitral valve insufficiency | |
| charcot-marie-tooth disease type 4 | Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. |
| meningovascular neurosyphilis | A tertiary neurosyphilis that results_in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has_symptom poor concentration, has_symptom memory loss, has_symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries. |
| charcot-marie-tooth disease type 2 | |
| charcot-marie-tooth disease type 3 | OMIM mapping confirmed by DO. [SN]. |
| charcot-marie-tooth disease type 1 | OMIM mapping confirmed by DO. [SN]. |
| chronic tympanitis | |
| variant creutzfeldt-jakob disease | |
| cochlear disease | |
| alcoholic cardiomyopathy | |
| benign glioma | A cell type benign neoplasm that has_material_basis_in glial cells. |
| polyneuropathy | |
| cholinergic urticaria | An urticaria induced by sweating. |
| oligohydramnios | A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion. |
| psoriasis | A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis. |
| periosteal osteogenic sarcoma | |
| 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. |
| hyperglobulinemic purpura | |
| 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. |
| microsporidiosis | An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members. |
| neonatal abstinence syndrome | A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment. |
| thrombophilia | OMIM mapping confirmed by DO. [LS]. |
| 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. |
| 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. |
| epidural neoplasm | |
| abnormality of glucagon secretion | |
| brain meningioma | |
| alveolar soft part sarcoma | A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults. |
| relapsing polychondritis | |
| infiltrating lipoma | |
| testis seminoma | |
| skin sarcoma | |
| pycnodysostosis | An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges. |
| dysembryoplastic neuroepithelial tumor | |
| ectopic thymus | |
| plexiform neurofibroma | |
| aspiration pneumonia | A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough. |
| median neuropathy | |
| prostatitis | Infiltration of inflammatory cells into the parenchyma of PROSTATE. The subtypes are classified by their varied laboratory analysis, clinical presentation and response to treatment. |
| spinal cord lymphoma | A spinal cancer that is located_in the spinal cord and derives_from lymphocytes. |
| parenchymatous neurosyphilis | A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has_symptom irritability, has_symptom difficulty concentrating, has_symptom deterioration of memory, has_symptom defective judgment, has_symptom headaches, has_symptom insomnia, has_symptom fatigue, and has_symptom lethargy. |
| sphenoorbital meningioma | |
| vulva basal cell carcinoma | |
| hydranencephaly | |
| acneiform dermatitis | |
| cardiac tamponade | A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch. |
| uveal disease | |
| mucinous adenocarcinoma | An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. |
| campylobacteriosis | A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever. |
| ovarian dysfunction | |
| sclerosing keratitis | |
| bietti crystalline corneoretinal dystrophy | OMIM mapping confirmed by DO. [SN]. |
| extragonadal seminoma | |
| partington syndrome | |
| purulent endophthalmitis | |
| osteogenesis imperfecta | An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. |
| cutaneous porphyria | OMIM mapping confirmed by DO. [SN]. |
| gastrin secretion abnormality | |
| infancy electroclinical syndrome | An electroclinical syndrome with onset in infancy occurring between birth and one year of age. |
| pulmonary aspergilloma | An aspergillosis that presents as a clump of tangled mass of Aspergillus fungus fibres, blood clots, and white blood cells, which exists in the cavities of the lungs that develop in an area of previous lung disease or lung scarring. |
| hepatitis d | A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma. |
| hepatitis e | A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus, which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice. |
| enthesopathy | |
| paragonimiasis | A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected. |
| lipoid proteinosis | OMIM mapping confirmed by DO. [SN]. |
| pancreatoblastoma | |
| hepatitis b | A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, transmitted_by blood transfusions, and transmitted_by fomites like needles or syringes. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. |
| hepatitis c | A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. |
| nosophobia | A specific phobia that involves an irrational fear of contracting a disease. |
| third cranial nerve disease | |
| atrophic rhinitis | A rhinitis which involves inflammation of the nose characterised by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues. |
| 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. |
| lymphocele | |
| eating disorder | A specific developmental disorder that is characterized by abnormal eating habits that may involve either insufficient or excessive food intake to the detriment of an individual's physical and emotional health. |
| ancylostomiasis | A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition. |
| bile duct cystadenocarcinoma | |
| pneumonic plague | A plague that results_in infection located_in lung, which results from direct inhalation of the bacillus and has_symptom fever, has_symptom chills, has_symptom cough and has_symptom difficulty breathing. |
| chromoblastomycosis | A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection. |
| adult medulloblastoma | |
| adrenal rest tumor | |
| kidney fibrosarcoma | |
| thymic carcinoma | A thymus cancer that derives_from epithelial cells. The tumor cells in a thymic carcinoma look very different from the normal cells of the thymus, grow more quickly, and have usually spread to other parts of the body when the cancer is found. |
| heart conduction disease | A cardiovascular system disease that involves the heart's electrical conduction system. |
| hyperprolactinemia | An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood. |
| miliaria rubra | |
| cerebellum cancer | |
| substance abuse | A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning. |
| autonomic nervous system neoplasm | A peripheral nervous system neoplasm that is located_in the autonomic nervous system. |
| primary systemic mycosis | A systemic mycosis that results_in infection located_in human body, has_material_basis_in Fungi, which can overcome the physiological and cellular defences of the normal human host. The primary deep pathogens usually gain access to the host via the respiratory tract. |
| laryngeal carcinoma | A larynx cancer that has_material_basis_in epithelial cells. |
| sparganosis | A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected. |
| morphine dependence | An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance. |
| vertebral artery insufficiency | |
| nonspecific interstitial pneumonia | An idiopathic interstitial pneumonia that occurs mainly in women, people who do not smoke, and people younger than 50 years with no known cause or risk factors. Lung biopsies may show predominantly interstitial inflammation or fibrosis or a combination of inflammation and fibrosis. A dry cough and shortness of breath develop over 6 to 18 months. Low-grade fever and a feeling of illness (malaise) may occur. |
| pleuropulmonary blastoma | A pulmonary blastoma that derives_from the lung or pleural cavity. |
| urogenital tuberculosis | An extrapulmonary tuberculosis that is located_in urogenital system. |
| opportunistic bacterial infectious disease | A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised. |
| hepatic coma | |
| hyperthyroxinemia | |
| amyloid tumor | |
| testicular germ cell tumor non-seminomatous | |
| fusariosis | An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma. |
| pediatric osteosarcoma | |
| presbyopia | |
| tarsal tunnel syndrome | |
| carbuncle | |
| papillary hidradenoma | |
| tinea profunda | A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses. |
| mu chain disease | A heavy chain disease that results from an overproduction of mu antibody (IgM). |
| mitochondrial myopathy | A myopathy that is characterized by mitochondrial dysfunction. |
| blood protein disease | |
| 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. |
| irritant dermatitis | |
| small intestine adenocarcinoma | A small intestine carcinoma that derives_from epithelial cells of glandular origin. |
| bronchus adenoma | |
| viral meningitis | |
| syndrome | A disease comprised of a group of signs and symptoms that occur together and characterize a particular abnormality. |
| adult malignant schwannoma | |
| spinal chordoma | A chordoma that derives_from the spine. |
| scurvy | OMIM mapping confirmed by DO. [SN]. |
| malignant syringoma | |
| postpoliomyelitis syndrome | A poliomyelitis that results_in atrophy located_in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has_symptom muscle weakness, has_symptom muscle pain, has_symptom sleep apnea, and has_symptom breathing problems. |
| adenoiditis | An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has_symptom pain, has_symptom redness, has_symptom swelling, and has_symptom difficulty swallowing. |
| congenital bile acid synthesis defect | |
| rumination disorder | An eating disorder that is characterized by effortless regurgitation of most meals following consumption. |
| eosinophilic esophagitis | An esophagitis characterized by inflammation involving eosinophils located_in esophagus. |
| gastric antral vascular ectasia | |
| refsum disease | OMIM mapping confirmed by DO. [SN]. |
| breast duct papilloma | |
| bladder transitional cell carcinoma | A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder. |
| 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. |
| tabes dorsalis | A tertiary neurosyphilis that results_in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has_symptom intense, stabbing pain in the back and legs that recurs irregularly, has_symptom gait ataxia, has_symptom hyperesthesia, has_symptom paresthesia, has_symptom loss of bladder sensation leading to urine retention, has_symptom erectile dysfunction. |
| central nervous system melanocytic neoplasm | |
| photoallergic dermatitis | |
| balantidiasis | A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath. |
| salivary gland adenoid cystic carcinoma | A salivary gland carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. |
| background diabetic retinopathy | |
| cryptosporidiosis | A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection. |
| tuberculosis | A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes. |
| basilar artery insufficiency | |
| pulmonary tuberculosis | A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis. |
| gastric teratoma | |
| brown-sequard syndrome | |
| septic arthritis | An arthritis that involves infection by a pathogen located_in joint. |
| tall cell variant papillary carcinoma | |
| spondylolysis | A bone structure disease that involves a defect located_in lumbar vertebral column. |
| acute tympanitis | |
| meninges sarcoma | |
| spondylosis | An bone structure disease that involves degeneration between vertebra located_in vertebral column. |
| pericardial effusion | A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity. |
| ovarian disease | |
| gastrointestinal system disease | A disease of anatomical entity that is located_in the gastrointestinal tract. |
| sclerosing hemangioma | |
| viral encephalitis | An encephalitis that involves inflammation of the brain caused by viral infection. |
| central nervous system vasculitis | |
| critical illness polyneuropathy | |
| phototoxic dermatitis | |
| lichen disease | |
| coronary restenosis | |
| duodenum adenocarcinoma | A duodenum cancer that derives_from epithelial cells of glandular origin. |
| chronic rhinitis | A rhinitis which is persistent and long-lasting. It may occur with diseases such as syphilis, tuberculosis, rhinoscleroma, rhinosporidiosis, leishmaniasis, blastomycosis, histoplasmosis, and leprosy, all of which are characterized by the formation of inflamed lesions (granulomas) and the destruction of soft tissue, cartilage, and bone. Chronic rhinitis causes nasal obstruction, pus-filled discharge from the nose, and frequent bleeding. |
| plasmodium vivax malaria | A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals. |
| peritoneum cancer | An organ system cancer that is located in the peritoneum. |
| status asthmaticus | An asthma that is a life threatening condition with progressive respiratory failure, which does not respond to standard treatment. |
| nasopharynx carcinoma | A pharynx cancer that is located_in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract. |
| epulis | |
| gastric liposarcoma | |
| mumps | A viral infectious disease that results_in inflammation located_in salivary gland, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom headache, has_symptom muscle aches, has_symptom tiredness, has_symptom loss of appetite, has_symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face. |
| withdrawal disorder | A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol. |
| toxic diffuse goiter | |
| hobnail hemangioma | |
| mature cataract | |
| degeneration of macula and posterior pole | |
| hemochromatosis | A metal metabolism disorder characterized by the accumulation of iron in various organs of the body. |
| lung benign neoplasm | |
| angiolipoma | A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma. |
| prosopagnosia | An agnosia that results in the loss of the ability to consciously recognize familiar faces. |
| neurocirculatory asthenia | A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormatlities. |
| sarcomatoid mesothelioma | |
| boomerang dysplasia | OMIM mapping confirmed by DO. [SN]. |
| lennox-gastaut syndrome | |
| extrinsic allergic alveolitis | An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss. |
| carbohydrate metabolism disease | An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism. |
| musculoskeletal system cancer | An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs. |
| embryonal carcinoma | An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes. |
| 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. |
| emphysematous cholecystitis | Emphysematous cholecystitis is a bacterial infectious disease consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues. |
| myocarditis | An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle. |
| 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. |
| variegate porphyria | |
| progressive muscular atrophy | |
| plexiform schwannoma | |
| 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. |
| osteosclerosis | A bone remodeling disease that results_in abnormal elevated bone density or mass. |
| form agnosia | An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details. |
| penis carcinoma | A penile cancer that is located_in the skin or tissues of the penis. |
| ischemia | A hypoperfusion of the BLOOD through an organ or tissue caused by a PATHOLOGIC CONSTRICTION or obstruction of its BLOOD VESSELS, or an absence of BLOOD CIRCULATION. |
| gastroschisis | OMIM mapping confirmed by DO. [SN]. |
| bowen-conradi syndrome | OMIM mapping confirmed by DO. [SN]. |
| scheuermann's disease | An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column. |
| impulse control disorder | A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others. |
| proteinuria | |
| dyskinetic cerebral palsy | A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions. |
| conjunctival intraepithelial neoplasm | |
| neovascular glaucoma | |
| ovarian mucinous neoplasm | |
| ocular hypertension | |
| familial visceral amyloidosis | OMIM mapping confirmed by DO. [SN]. |
| skin disease | An integumentary system disease that is located_in skin. |
| dermatographia | An urticaria induced by stroking of the skin. |
| delusional disorder | A psychotic disorder that involves an uncommon psychiatric condition in which patients present with circumscribed symptoms of non-bizarre delusions, but with the absence of prominent hallucinations and no thought disorder, mood disorder, or significant flattening effect. |
| complement factor i deficiency | OMIM mapping confirmed by DO. [SN]. |
| carotid artery thrombosis | |
| endogenous depression | A mental depression that is characterized by a dysregulation of the endogenous opioid system and not of the monaminergic system. |
| glucosephosphate dehydrogenase deficiency | A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH). |
| neonatal myasthenia gravis | |
| neuroaxonal dystrophy | |
| agoraphobia | A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable. |
| cycloplegia | |
| dermatomyositis | A myositis and is_a dermatitis that results_in inflammation located_in muscle and located_in skin. The disease may result from either a viral infection or an autoimmune reaction.|A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6) |
| protein c deficiency | |
| alpha chain disease | A heavy chain disease that results from an overproduction of alpha antibodies (IgA). |
| hypophosphatemia | |
| cutaneous leishmaniasis | A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions. |
| inhalation anthrax | An anthrax disease that results_in infection located_in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches. |
| pineal parenchymal tumor of intermediate differentiation | |
| brachydactyly-syndactyly syndrome | OMIM mapping confirmed by DO. [SN]. |
| erythrasma | |
| papillon-lefevre disease | OMIM mapping confirmed by DO. [SN]. |
| fundus dystrophy | |
| renal artery obstruction | |
| pain agnosia | An agnosia that is a loss of the ability to perceive and process pain. |
| 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. |
| adrenal cortex disease | |
| norwegian scabies | A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching. |
| prostate leiomyoma | |
| nephrogenic adenofibroma | |
| blepharophimosis | |
| 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). |
| neuroacanthocytosis | |
| parovarian cyst | |
| radial neuropathy | |
| spina bifida | |
| juvenile astrocytoma | |
| 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. |
| thyroid crisis | |
| large cell acanthoma | |
| papillary conjunctivitis | |
| protoplasmic astrocytoma | |
| embryoma | A carcinosarcoma and embryonal cancer that is located_in embryonic tissue and results_in a mass of rapidly growing cells. |
| branch retinal artery occlusion | |
| intestinal benign neoplasm | A gastrointestinal system benign neoplasm that is located_in the intestine. |
| interstitial lung disease | |
| neonatal respiratory failure | |
| duodenal ulcer | Adding UMLS CUI for Curling Ulcer C0013295. |
| familial atrial fibrillation | An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes. |
| alcoholic liver cirrhosis | |
| clear cell basal cell carcinoma | |
| bone benign neoplasm | A connective tissue benign neoplasm that is located_in bone. |
| opportunistic mycosis | A systemic mycosis that results_in fungal infection located_in human body of immunocompromised individuals, has_material_basis_in Fungi. The organisms invade via the respiratory tract, alimentary tract, or intravascular devices. |
| acth-secreting pituitary adenoma | A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome. |
| keratosis follicularis | OMIM mapping confirmed by DO. [SN]. |
| bethlem myopathy | OMIM mapping confirmed by DO. [SN]. |
| secondary hypertrophic osteoarthropathy | |
| lepromatous leprosy | A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas. |
| frontal sinus inverted papilloma | |
| immature cataract | |
| acrocapitofemoral dysplasia | OMIM mapping confirmed by DO. [SN]. |
| posterior cranial fossa meningioma | |
| endometrial adenosquamous carcinoma | An endometrial carcinoma that derives_from squamous cells and gland-like cells. |
| hypertropia | |
| acute transudative otitis media | A non-suppurative otitis media and eustachian tube disorder with a sudden onset and a short course. |
| recurrent hypersomnia | A sleep disorder that involves recurring bouts of excessive amounts of sleepiness. |
| felty's syndrome | A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia. |
| hodgkin's lymphoma, nodular sclerosis | |
| marginal zone b-cell lymphoma | A B-cell lymphoma that is characterized by initial formation in the marginal zones of lymph tissue. |
| parasitic ichthyosporea infectious disease | A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals. |
| penile cancer | |
| juvenile myelomonocytic leukemia | OMIM mapping confirmed by DO. [SN]. |
| specific developmental disorder | A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. |
| glanders | A primary bacterial infectious disease that results_in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted_by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has_symptom fever, has_symptom chills, has_symptom sweating, has_symptom muscle aches, has_symptom chest pain, has_symptom muscle tightness, has_symptom headache, has_symptom mucopurulent nasal discharge, and has_symptom nodular lesions in the lungs. |
| azoospermia | A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen. |
| posterior polar cataract | OMIM mapping confirmed by DO. [SN]. |
| generalized dystonia | A dystonia that affects most or all of the body. |
| exostosis | A hyperostosis that involves formation of new bone on the surface of preexisting bone. |
| 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. |
| amyotrophic lateral sclerosis type 8 | A type of ALS caused_by mutation located_in VAPB gene located_in chromosome 20. |
| patent ductus arteriosus | OMIM mapping confirmed by DO. [SN]. |
| tooth resorption | |
| pancreatic ductal carcinoma | A pancreatic carcinoma located_in the pancreatic duct. |
| spinal canal intradural extramedullary neoplasm | |
| klatskin's tumor | |
| vulvar melanoma | |
| spermatic cord torsion | |
| spinal cord oligodendroglioma | |
| root resorption | |
| retinal cancer | |
| meningioma | A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges. |
| pseudo-torch syndrome | No OMIM mapping, confirmed by DO. [SN]. |
| adenomyoma | A carcinosarcoma that has_material_basis_in gland and muscle components. |
| kidney leiomyosarcoma | A leiomyosarcoma and sarcoma of kidney that is located_in the kidney. |
| splenic flexure cancer | |
| childhood endodermal sinus tumor | An endodermal sinus tumor that occurs in children. |
| interstitial cystitis | |
| central nervous system disease | A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system. |
| heroin dependence | An opiate dependence that involves the continued use of heroin despite problems related to use of the substance. |
| papillary cystadenocarcinoma | A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections. |
| atransferrinemia | OMIM mapping confirmed by DO. [SN]. |
| actinomycosis | A commensal bacterial infectious disease that results_in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures. |
| korean hemorrhagic fever | A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload. |
| epidemic pleurodynia | A viral infectious disease that results_in necrosis located_in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has_symptom severe chest pain, has_symptom fever, has_symptom malaise, has_symptom pleuritis, and has_symptom headache. |
| 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. |
| conjunctival disease | |
| diffuse meningeal melanocytosis | |
| hiatus hernia | OMIM mapping confirmed by DO. [SN]. |
| goiter | Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency ( HYPOTHYROIDISM), or hormone overproduction ( HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic ( GOITER, ENDEMIC). |
| cannabis dependence | A drug dependence that involves the continued use of cannabis despite problems related to use of the substance. |
| alopecia | A hypotrichosis that is characterized by a loss of hair from the head or body. |
| adult oligodendroglioma | |
| petroclival meningioma | |
| drug-induced mental disorder | |
| pericardium cancer | |
| ovarian small cell carcinoma | |
| acute myocarditis | |
| progressive myoclonus epilepsy | |
| 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. |
| malignant peripheral nerve sheath tumor | Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category.|An uncommon, highly aggressive malignant tumor, arising from the peripheral nerves and affecting mostly adults in their third to sixth decades of life. It usually occurs in medium-sized and large nerves of the buttock, thigh, upper arm, or the paraspinal region. It may be associated with neurofibromatosis 1 (NF1). |
| chronic apical periodontitis | |
| waardenburg's syndrome | An autosomal disease characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes. |
| pneumoconiosis | An interstitial lung disease that is caused by the inhalation of dust. |
| spindle cell thymoma | |
| atrial heart septal defect | Xref MGI. |
| anosognosia | An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments. |
| histiocytoma | A neoplasm consisting of histiocytes. Forms include BENIGN FIBROUS HISTIOCYTOMA; and MALIGNANT FIBROUS HISTIOCYTOMA (MeSH) |
| central retinal artery occlusion | A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery. |
| vulvar benign neoplasm | |
| tricuspid valve disease | |
| actinic keratosis | |
| ophthalmoplegia | |
| external ear carcinoma | An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| asthenopia | |
| supraglottis neoplasm | |
| intramuscular hemangioma | |
| melanotic neuroectodermal tumor | |
| pseudosarcomatous fibromatosis | |
| lip cancer | |
| myeloma | A bone marrow cancer that affects plasma cells in which abnormal plasma cells multiply uncontrollably in the bone marrow and occasionally in other parts of the body. |
| hair disease | An integumentary system disease that is located_in hair. |
| gallbladder sarcoma | A sarcoma that is located_in the gallbladder. |
| trigeminal nerve disease | |
| complement component 5 deficiency | OMIM mapping confirmed by DO. [SN]. |
| esotropia | Esotropia is a strabismus in which the eye turns inward toward the nose. |
| dissociated nystagmus | |
| ethmoid sinus adenocarcinoma | An ethmoid sinus cancer that derives_from epithelial cells of glandular origin. |
| medulloblastoma | A malignant neoplasm that may be classified either as a glioma or as a primitive neuroectodermal tumor of childhood (see NEUROECTODERMAL TUMOR, PRIMITIVE). The tumor occurs most frequently in the first decade of life with the most typical location being the cerebellar vermis. Histologic features include a high degree of cellularity, frequent mitotic figures, and a tendency for the cells to organize into sheets or form rosettes. Medulloblastoma have a high propensity to spread throughout the craniospinal intradural axis. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2060-1)|A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, desmoplastic medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity and advanced neuronal differentiation. (from NCI Thesuarus) |
| neurofibrosarcoma | |
| dermatosis papulosa nigra | OMIM mapping confirmed by DO. [SN]. |
| diabetic ketoacidosis | OMIM mapping confirmed by DO. [SN]. |
| pulmonary large cell neuroendocrine carcinoma | |
| gastric diffuse adenocarcinoma | |
| burkitt lymphoma | A mature B-cell neoplasm of B-cells found in the germinal center. |
| vestibular gland benign neoplasm | |
| brugada syndrome | A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. |
| transient neonatal thrombocytopenia | |
| 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. |
| small intestinal sarcoma | A sarcoma and malignant tumor of small intestine that is located_in the small intestine. |
| hypertensive heart disease | A heart disease that is caused by high blood presure. |
| alternating hemiplegia of childhood | A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body. |
| 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. |
| pyloric stenosis | |
| motor peripheral neuropathy | |
| glucose metabolism disease | |
| cerebellar angioblastoma | |
| major depressive disorder | An endogenous depression that is characterized by an all-encompassing low mood accompanied by low self-esteem, and by loss of interest or pleasure in normally enjoyable activities. |
| labyrinthine disease | |
| 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. |
| motor neuritis | |
| fukuyama congenital muscular dystrophy | OMIM mapping confirmed by DO. [SN]. |
| radiculopathy | |
| mast-cell leukemia | A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood. |
| lipomatous cancer | |
| intratubular embryonal carcinoma | An embryonal testis carcinoma that is located within a tubule. |
| granular cell carcinoma | A carcinoma that derives_from epithelial cells, with polygonal accumulation of secondary lysosomes in the cytoplasm. |
| paranoid schizophrenia | A schizophrenia that involves delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening. |
| cascade stomach | |
| chief cell adenoma | |
| mononeuritis multiplex | |
| parathyroid transitional clear cell adenoma | |
| 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. |
| lymphohistiocytoid mesothelioma | |
| benign struma ovarii | |
| potter's syndrome | An oligohydramnios desribing the typical physical appearances of a fetus or neonate due to oligohydramnios experienced in the womb where there is a decrease in amniotic fluid volume sufficient to cause disruptions in morphogenesis of the fetus. |
| ataxia with oculomotor apraxia type 1 | |
| ataxia with oculomotor apraxia type 2 | |
| pfeiffer syndrome | An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. |
| intermediate coronary syndrome | |
| hidradenitis | |
| cecum cancer | A large intestine cancer that is located_in the cecum. |
| intrinsic cardiomyopathy | A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause. |
| muscle tissue disease | |
| eccrine adenocarcinoma | An eccrine sweat gland cancer that derives_from epithelial cells of glandular origin. |
| sick building syndrome | An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building. |
| hepatocellular fibrolamellar carcinoma | |
| non-syndromic intellectual disability | An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms. |
| latent syphilis | A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease. |
| amelogenesis imperfecta | A dental enamel hypoplasia characterized by abnormal enamel formation. |
| olivopontocerebellar atrophy | A spinocerebellar ataxia that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives. |
| cellular ependymoma | |
| tooth agenesis | A tooth disease characterized by failure to develop on or more missing teeth. |
| glycogen storage disease v | OMIM mapping confirmed by DO. [SN]. |
| mature b-cell neoplasm | |
| kuru | |
| tricuspid valve stenosis | A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve. |
| hyperthyroidism | A thyroid gland disease that involves an over production of thyroid hormone. |
| variola major | A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions. |
| nail disease | An integumentary system disease that is located_in nail. |
| 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. |
| hydrocephalus | A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head. |
| disease | A disease is a disposition that describes states of disease associated with a particular sample and/or organism. |
| renal pelvis transitional cell carcinoma | |
| active peptic ulcer disease | |
| dacryocystitis | |
| common cold | An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus. |
| paraphimosis | |
| epididymo-orchitis | |
| 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. |
| breast adenoid cystic carcinoma | |
| lung adenoid cystic carcinoma | |
| lice infestation | A parasitic ectoparasitic infectious disease that involves infestation of lice, which are blood-feeding ectoparasitic insects of the order Phthiraptera. |
| louping ill | A viral infectious disease that results_in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted_by sheep tick, Ixodes ricinus. The infection has_symptom lethargy, has_symptom muscle pains, has_symptom fever, and has_symptom focal neurological signs. |
| breast fibroadenoma | A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast. |
| myoclonic cerebellar dyssynergia | OMIM mapping confirmed by DO. [SN]. |
| agammaglobulinemia | A B cell deficiency that is caused by a reduction in all types of gamma globulins. |
| cocaine dependence | A drug dependence that is a psychological dependency on the regular use of cocaine. |
| hypochromic anemia | |
| hantavirus pulmonary syndrome | A viral infectious disease that results_in infection located_in lung, has_material_basis_in Sin Nombre virus, transmitted_by deer mouse (Myodes glareolus), has_material_basis_in Black Creek Canal virus, transmitted_by cotton rat (Sigmodon hispidus), has_material_basis_in Bayou virus, transmitted_by marsh rice rat (Oryzomys palustris), has_material_basis_in Laguna Negra virus, transmitted_by small vesper mouse (Calomys laucha), or has_material_basis_in Andes virus, transmitted_by rice rat (Oligoryzomys longicaudatus). The infection has_symptom fever, has_symptom muscle pain, has_symptom headache, has_symptom cough, has_symptom vomiting, has_symptom chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications. |
| munchausen by proxy | A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others. |
| amusia | An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals. |
| diaphragm disease | A muscular disease that is located_in the diaphragm. |
| papillary serous adenocarcinoma | A papillary adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies. |
| cholecystitis | A cholangitis that is an inflammation of the gallbladder. |
| 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. |
| rete testis neoplasm | |
| gonorrhea | A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods. |
| reproductive organ cancer | An organ system cancer that is manifested in the reproductive organs. |
| hematopoietic system disease | An immune system disease that has_material_basis_in hematopoietic cells. |
| intestinal tuberculosis | A gastrointestinal tuberculosis that involves diffuse mucosal fold thickening, formation of ulcers and fistulae located_in intestine. The infection has_symptom abdominal pain, has_symptom gastrointestinal bleeding, has_symptom nausea and has_symptom vomiting. |
| trichomoniasis | A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively. |
| intestinal pseudo-obstruction | |
| duodenitis | |
| dandy-walker syndrome | OMIM mapping confirmed by DO. [SN]. |
| mast cell neoplasm | A hematologic cancer that has_material_basis_in mast cells. |
| acute stress disorder | An anxiety disorder that has_symptom flashbacks, has_symptom bad dreams, has_symptom frightening thoughts, has_symptom avoidance or has_symptom hyperarousal of PTSD occurring within one month of a traumatic experience as Acute Stress Disorder or ASD. |
| apocrine sweat gland cancer | |
| x-linked myopathy with excessive autophagy | |
| renal hypertension | |
| retinal cell cancer | A malignant neoplasm that derives_from the retina. |
| waterhouse-friderichsen syndrome | An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland. |
| prostatic cyst | |
| sensenbrenner syndrome | OMIM mapping confirmed by DO. [SN]. |
| hodgkin's lymphoma | A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell. |
| mucocele of salivary gland | |
| brain cancer | A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain. |
| congenital fibrosarcoma | |
| chondroid lipoma | A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women. |
| oncocytic breast carcinoma | |
| interstitial emphysema | |
| ornithine carbamoyltransferase deficiency | An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase. |
| non-suppurative otitis media | A otitis media which involves transudation of fluid in the middle ear without pus formation. |
| gastric cardia adenocarcinoma | |
| endocarditis | A heart disease involving non-infectious inflammation of the endocardium (inner layer of the heart).|Inflammation of the inner lining of the heart (ENDOCARDIUM), the continuous membrane lining the four chambers and HEART VALVES. It is often caused by microorganisms including bacteria, viruses, fungi, and rickettsiae. Left untreated, endocarditis can damage heart valves and become life-threatening.|Inflammation of the endocardium. |
| 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. |
| bruton-type agammaglobulinemia | A B cell deficiency that is caused by a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. |
| encapsulated thymoma | |
| hyperparathyroidism | A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body. |
| connective tissue disease | A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. |
| pyomyositis | |
| baller-gerold syndrome | OMIM mapping confirmed by DO. [SN]. |
| wiskott-aldrich syndrome | OMIM mapping confirmed by DO. [SN]. |
| myopathy | A muscular disease in which the muscle fibers do not function resulting in muscular weakness. |
| 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. |
| ross river fever | A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus, which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. |
| cutaneous adenocystic carcinoma | |
| factor v deficiency | OMIM mapping confirmed by DO. [SN]. |
| malignant giant cell tumor of soft parts | |
| hypoactive sexual desire disorder | |
| ovarian germ cell cancer | An ovarian cancer that originates in the germ (egg) cells of the ovary. |
| 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. |
| endosalpingiosis | |
| deep keratitis | |
| hemorrhoid | A pelvic varix disease characterized by swollen, inflamed veins around the anus or lower rectum. |
| tropical spastic paraparesis | A viral infectious disease that results_in inflammation located_in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, and transmitted_by breast feeding. The infection has_symptom spastic weakness of both legs, has_symptom muscle stiffness, has_symptom sensory disturbance, and has_symptom spasms. |
| beta thalassemia | A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin. |
| autoimmune hepatitis | An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells. |
| decubitus ulcer | Decubitus ulcer is a chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure. |
| premature ejaculation | |
| salpingo-oophoritis | |
| pasteurellosis | A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia. |
| meningoencephalitis | A central nervous system disease that involves encephalitis which occurs along with meningitis. |
| nephrosis | |
| eye accommodation disease | |
| geographic tongue | An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface. |
| necatoriasis | A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching. |
| fetal adenoma | |
| neuroretinitis | |
| refractive error | |
| craniosynostosis | A synostosis that results_in premature fusion located_in skull. |
| edwards syndrome | OMIM mapping confirmed by DO. [LS]. |
| lacrimal gland carcinoma | |
| sebaceous gland disease | A skin disease that is located_in the sebaceous gland. |
| angioedema | condition similar to urticarai but with swelling occuring in a lower layer of the dermis as well as in the subcutis |
| bone carcinoma | A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. |
| fiedler's myocarditis | |
| chronic maxillary sinusitis | A maxillary sinusitis which lasts for 12 weeks or more. |
| ovary sarcoma | |
| cervical incompetence | A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term. |
| oophoritis | |
| villous adenocarcinoma | An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, with villous architecture. |
| ischemic neuropathy | |
| mature teratoma of the ovary | |
| diabetic neuropathy | |
| inflamed seborrheic keratosis | |
| diabetic cataract | |
| otosclerosis | Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs. |
| iris disease | |
| jaw-winking syndrome | OMIM mapping confirmed by DO. [SN]. |
| nephrotic syndrome | Xref MGI. |
| lateral sinus thrombosis | |
| 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. |
| jmp syndrome | An autosomal recessive disease that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy. |
| goldenhar syndrome | A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch. |
| babesiosis | A parasitic protozoa infectious disease that has_symptommild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease. |
| anus neoplasm | |
| 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. |
| peptic ulcer disease | |
| pulmonary fibrosis | |
| venous hemangioma | |
| meningocele | |
| cervical cancer | A female reproductive organ cancer that is located_in the cervix. |
| skin carcinoma | A skin cancer that is located_in tissues of the skin and develops from epithelial cells. |
| variable age at onset electroclinical syndrome | |
| malignant ciliary body melanoma | |
| hypohidrosis | |
| prostatic urethral cancer | |
| leukodystrophy | A cerebral degeneration characterized by dysfunction of the white matter of the brain. |
| gemistocytic astrocytoma | |
| 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. |
| acoustic neuroma | |
| small intestine neoplasm | |
| retinal hemangioblastoma | |
| keratoconus | A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape. |
| pain disorder | A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress. |
| notochordal cancer | An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord. |
| acute chest syndrome | A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph. |
| syringoma | |
| renal artery disease | |
| ebstein anomaly | A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart. |
| hemometra | |
| lipoatrophic diabetes | A type 2 diabetes that involves severe lipodystrophy in addition to the traditional signs of diabetes. |
| paramyloidosis | |
| superior mesenteric artery syndrome | |
| congenital aphakia | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| pediatric angiosarcoma | An angiosarcoma that affects children. |
| hypersensitivity reaction type iv disease | |
| diabetic angiopathy | |
| shoulder impingement syndrome | |
| acute closed-angle glaucoma | |
| extramedullary plasmacytoma | |
| sc phocomelia syndrome | OMIM mapping confirmed by DO. [SN]. |
| orthostatic proteinuria | |
| viral pneumonia | A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus. |
| familial medullary thyroid carcinoma | OMIM mapping confirmed by DO. [SN]. |
| mucopolysaccharidosis i | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase. |
| mobius syndrome | OMIM mapping confirmed by DO. [SN]. |
| leishmaniasis | Leishmaniasis is a disease caused by protozoan parasites that belong to the genus Leishmania and is transmitted by the bite of certain species of sand fly (subfamily Phlebotominae). |
| polyradiculopathy | |
| toxicodendron dermatitis | |
| xanthogranulomatous cholecystitis | |
| sialuria | A lysosomal storage disease characterized by increased sialic acid in the urine. |
| mucinous adenofibroma | |
| protein-deficiency anemia | |
| blepharitis | An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow. |
| 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. |
| 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. |
| junctional epidermolysis bullosa | Xref MGI. |
| posterior myocardial infarction | |
| chorioretinitis | |
| non-gestational ovarian choriocarcinoma | |
| 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. |
| prostatic adenoma | |
| wagenmann-froboese syndrome | An autosomal dominant disease characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities. |
| adrenal medulla cancer | An adrenal gland cancer that is located_in the adrenal medulla. |
| schmid metaphyseal chondrodysplasia | A metaphyseal dysplasia that results_in dwarfism and bowed legs. |
| papilledema | |
| 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. |
| mixed gonadal dysgenesis | |
| acute serous otitis media | A acute transudative otitis media with thin, watery and sterile effusion. |
| prostate embryonal rhabdomyosarcoma | A prostate rhabdomyosarcoma that is most common in children. |
| deafness dystonia syndrome | A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems. |
| epidermodysplasia verruciformis | An autosomal recessive disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has_symptom lesions on the body. |
| dental pulp calcification | |
| aspiration pneumonitis | A pneumonia that is defined as an acute lung injury after the inhalation of foreign material such as regurgitated acidic gastric contents, petroleum products and laxative oils. This syndrome occurs in patients who have a marked disturbance of consciousness such as that resulting from a drug overdose, seizures, a massive cerebrovascular accident, or the use of anesthesia. Aspiration of gastric contents results in a chemical burn of the tracheobronchial tree and pulmonary parenchyma, causing an intense parenchymal inflammatory reaction. The disesae has_symptom non-productive cough, has_symptom tachypnea, has_symptom bronchospasm, has_symptom bloody sputum, has_symptom frothy sputum, or has_symptom respiratory distress, 2-5 hrs after aspiration. |
| estrogen excess | |
| acute gonococcal salpingitis | |
| cellular neurofibroma | |
| aortic valve disease | Updating out dated UMLS CUI. |
| juvenile dermatitis herpetiformis | |
| necrotizing sialometaplasia | |
| megaloblastic anemia | A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production. |
| cervix small cell carcinoma | |
| homocarnosinosis | A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine. |
| cellular congenital mesoblastic nephroma | |
| oligospermia | |
| urethra cancer | An urinary tract cancer that derives_from the tissues of the urethra. |
| 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. |
| st. louis encephalitis | A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis. |
| gastric leiomyosarcoma | |
| bone giant cell sarcoma | A malignant giant cell tumor that is composed_of multinucleated giant cells. |
| 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. |
| carpal tunnel syndrome | OMIM mapping confirmed by DO. [SN]. |
| tracheal disease | |
| adult syndrome | An autosomal dominant disease that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63. |
| axillary adenitis | |
| spinal cord primitive neuroectodermal neoplasm | |
| epiglottis cancer | |
| parapharyngeal meningioma | |
| testicular germ cell cancer | A testicular cancer that has_material_basis_in germ cells. |
| finger agnosia | An agnosia that is a loss of the ability to distinguish the fingers on the hand. |
| renal glycosuria | OMIM mapping confirmed by DO. [SN]. |
| sensorineural hearing loss | OMIM mapping confirmed by DO. [LS]. |
| pancoast tumor | |
| 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). |
| autonomic neuropathy | |
| testicular gonadoblastoma | |
| ovarian serous cystadenocarcinoma | An ovary serous adenocarcinoma that has_material_basis_in glandular epithelium, in which cystic accumulations of retained secretions are formed. |
| tauopathy | Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain. |
| distal arthrogryposis | A muscle tissue disease characterized by congenital joint contractures of hand and feet. |
| lung oat cell carcinoma | |
| 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. |
| 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. |
| nonpapillary renal cell carcinoma | OMIM mapping confirmed by DO. [SN]. |
| primary hyperoxaluria | OMIM mapping confirmed by DO. [SN]. |
| pulmonary artery leiomyosarcoma | |
| d-2-hydroxyglutaric aciduria | An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. |
| melanomatosis | |
| hypercalcemia | |
| choroid plexus cancer | A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain. |
| enterobiasis | A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching. |
| stomach carcinoma in situ | |
| familial renal papillary carcinoma | |
| hereditary fructose intolerance syndrome | |
| vitreoretinal dystrophy | |
| menkes disease | OMIM mapping confirmed by DO. [SN]. |
| bladder tuberculosis | An urogenital tuberculosis that is located_in urinary bladder, which results in fibrosis of bladder wall muscles. |
| visceral leishmaniasis | A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver. |
| uterine corpus sarcoma | An uterine corpus cancer that is located_in the muscles of the uterus or located_in other tissues that support the uterus. |
| usher syndrome | A syndrome characterized by a combination of hearing loss and visual impairment. |
| phobic disorder | An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation. |
| aplastic anemia | An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow. |
| cerebral lipidosis | |
| 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. |
| mikulicz disease | |
| vestibulocochlear nerve disease | |
| essential hypertension | A hypertension with no known cause. It is the most common type of hypertension. |
| variola minor | A smallpox that results_in milder infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions. |
| gangliocytoma | |
| synostosis | A dysostosis that results_in abnormal fusing of adjacent bones. |
| alveoli adenoma | |
| meconium aspiration syndrome | |
| donohue syndrome | OMIM mapping confirmed by DO. [SN]. |
| fucosidosis | OMIM mapping confirmed by DO. [SN]. |
| lower lip cancer | |
| cystic lymphangioma | |
| degenerative myopia | |
| localized scleroderma | |
| familial retinoblastoma | |
| esophageal varix | |
| cysticercosis | A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions. |
| membranoproliferative glomerulonephritis | |
| skin tag | |
| blue color blindness | A color blindness that is characterised by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function. |
| brain sarcoma | |
| breast neuroendocrine neoplasm | |
| mature t-cell and nk-cell lymphoma | A non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells. |
| duchenne muscular dystrophy | A muscular dystrophy that has_material_basis_in X-linked disease caused by mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. |
| juxtacortical osteosarcoma | |
| acute poststreptococcal glomerulonephritis | |
| selective immunoglobulin deficiency disease | |
| lysosomal storage disease | An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. |
| endometrial small cell carcinoma | |
| breast carcinoma in situ | |
| lambert-eaton myasthenic syndrome | A neuromuscular junction disease that results from an abnormality of acetylcholine (ACh) release at the neuromuscular junction. It results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal. |
| leukocyte disease | |
| aagenaes syndrome | A syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts. |
| iritis | |
| duodenal obstruction | |
| 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. |
| c3 deficiency | Xref MGI. |
| telogen effluvium | |
| reactive cutaneous fibrous lesion | |
| periventricular leukomalacia | |
| middle ear cancer | An auditory system cancer that is located_in the middle ear. |
| endometrial stromal nodule | |
| fibrosarcoma of bone | |
| persian gulf syndrome | A syndrome affecting returning military veterans and civilian workers of the Gulf War. |
| mitral valve disease | |
| microglandular adenosis | |
| anaerobic meningitis | |
| colon mucinous adenocarcinoma | |
| ovarian cystadenoma | |
| hyperphosphatemia | |
| respiratory system cancer | An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract. |
| laryngostenosis | |
| steroid-induced glaucoma | |
| blood coagulation disease | |
| lacrimal gland adenocarcinoma | A lacrimal gland carcinoma that derives_from epithelial cells of glandular origin. |
| visual pathway disease | |
| vertebral artery occlusion | |
| cerebral lymphoma | A cerebrum cancer that affects the lymph cells and derives_from the brain. |
| choroidal sclerosis | OMIM mapping confirmed by DO. [SN]. |
| thyroid gland disease | An endocrine system disease that is located_in the thyroid. |
| functionless pituitary adenoma | |
| gastritis | A stomach disease that is an inflammation of the lining of the stomach. |
| breast giant fibroadenoma | |
| erythema infectiosum | |
| placental site trophoblastic tumor | |
| suppression amblyopia | |
| adult dermatomyositis | |
| membranous glomerulonephritis | |
| bronchus cancer | A respiratory system cancer that is located_in the bronchus. |
| sarcoidosis | A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs. |
| glioblastoma multiforme | The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell glioblastoma and gliosarcoma. (WHO)|Glial cell derived tumors arising from the optic nerve, usually presenting in childhood. Roughly 50% are associated with NEUROFIBROMATOSIS 1. Clinical manifestations include decreased visual acuity; EXOPHTHALMOS; NYSTAGMUS, PATHOLOGIC; STRABISMUS; pallor or swelling of the optic disc; and INTRACRANIAL HYPERTENSION. The tumor may extend into the optic chiasm and hypothalamus (MeSH).|A malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage, and necrosis. They may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. Clinical presentation most frequently occurs in the fifth or sixth decade of life with focal neurologic signs or seizures (MeSH).|A malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage, and necrosis. They may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. Clinical presentation most frequently occurs in the fifth or sixth decade of life with focal neurologic signs or seizures. |
| infiltrating angiolipoma | |
| 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. |
| newcastle disease | A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Newcastle disease virus, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds. |
| complex regional pain syndrome | |
| myofibroma | |
| tinea unguium | A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. Sometimes, white islands are seen on the external nail plates. These gradually coalesce until the entire nail plate is involved. |
| cholecystolithiasis | |
| tay-sachs disease | OMIM mapping confirmed by DO. [SN]. |
| adrenal gland cancer | An endocrine gland cancer located_in the adrenal glands which are located above the kidneys. |
| ureteral benign neoplasm | |
| imperforate anus | OMIM mapping confirmed by DO. [SN]. |
| paraneoplastic polyneuropathy | |
| 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. |
| renovascular hypertension | |
| breast cyst | |
| bird fancier's lung | An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen. |
| mammary paget's disease | |
| middle ear disease | |
| nephropathia epidemica | A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Puumala virus, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure. |
| cecum adenocarcinoma | A cecum carcinoma that derives_from epithelial cells of glandular origin. |
| lymphopenia | A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood. |
| narcissistic personality disorder | A personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity. |
| anti-basement membrane glomerulonephritis | |
| anterolateral myocardial infarction | |
| verbal auditory agnosia | An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful. |
| adult teratoma | |
| baastrup's syndrome | |
| hypersensitivity vasculitis | |
| 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. |
| nerve compression syndrome | |
| axenfeld-rieger syndrome | An autosomal dominant disease characterized by abnormalities of the front part of the eye, the anterior segment. |
| bladder papillary transitional cell neoplasm | |
| exudative glomerulonephritis | |
| galactokinase deficiency | A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. |
| tibial nerve palsy | |
| nasal cavity cancer | A respiratory system cancer that is located_in the nasal cavity. |
| hepatic tuberculosis | A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice. |
| clear cell chondrosarcoma | |
| 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. |
| 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. |
| 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. |
| female reproductive endometrioid cancer | |
| fungal esophagitis | |
| glycogen storage disease ix | |
| proliferative diabetic retinopathy | |
| laurence-moon syndrome | OMIM mapping confirmed by DO. [SN]. |
| hereditary breast ovarian cancer | An autosomal dominant disease characterized by the higher than normal tendency to develop breast and ovarian cancers in genetically related families. |
| primary congenital glaucoma | Xref MGI. |
| enophthalmos | |
| choroid disease | |
| pulmonary valve disease | |
| conjugate gaze palsy | |
| 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. |
| non-proliferative fibrocystic change of the breast | |
| dysgammaglobulinemia | A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins. |
| western equine encephalitis | A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom 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. |
| extraskeletal mesenchymal chondrosarcoma | |
| sarcomatosis | A sarcoma that results_in the formation of numerous sarcomas or located_in various parts of the body. |
| tuberculoid leprosy | A leprosy that results in one erythematous large plaque with well-defined borders that are elevated and that slope down into an atrophic center. |
| patulous eustachian tube | A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection. |
| inflammatory liposarcoma | |
| vipoma | |
| bacterial vaginosis | A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis. |
| ovary adenocarcinoma | An ovarian carcinoma that derives_from epithelial cells of glandular origin. |
| retroperitoneal leiomyosarcoma | |
| lung small cell carcinoma | A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells. |
| pneumothorax | |
| swine influenza | An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea. |
| extracutaneous mastocytoma | |
| 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. |
| prostate adenocarcinoma | A prostate carcinoma that derives_from epithelial cells of glandular origin. |
| venezuelan equine encephalitis | A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region. |
| breast carcinoma | Tumors or cancer of the human BREAST.|A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla.|A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla.|A carcinoma that derives_from breast tissue.|Cancer of the human MAMMARY GLAND.|Tumor or cancer of the human MAMMARY GLAND.|A carcinoma that originates from breast tissue. |
| invasive lobular carcinoma | |
| chronic ulcer of skin | |
| chronic meningitis | |
| anal canal adenocarcinoma | An anal canal cancer that derives_from epithelial cells of glandular origin. |
| type c thymoma | |
| intestinal infectious disease | An intestinal disease that involves intestinal infection caused by viruses, bacteria, fungi and parasites. |
| 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). |
| systemic mastocytosis | |
| ovarian hyperstimulation syndrome | OMIM mapping confirmed by DO. [SN]. |
| sexual dysfunction | |
| gastric adenosquamous carcinoma | |
| childhood pilocytic astrocytoma | |
| orbital cellulitis | |
| hereditary coproporphyria | OMIM mapping confirmed by DO. [SN]. |
| congenital disorder of glycosylation type i | A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor. |
| fibrous dysplasia | A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue. |
| pedophilia | |
| capillary hemangioma | |
| disease of metabolism | A disease that involving errors in metabolic processes of building or degradation of molecules. |
| sensory system cancer | A nervous system cancer that is located_in the sensory system. |
| cellular myxoid liposarcoma | |
| lacrimal gland cancer | |
| lesch-nyhan syndrome | OMIM mapping confirmed by DO. [SN]. |
| contagious pustular dermatitis | A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus, which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis. |
| adolescence-adult electroclinical syndrome | An electroclinical syndrome with onset in adolescence and adulthood. |
| renal adenoma | |
| small intestine cancer | An intestinal cancer that is located_in the small intestine. |
| oropharynx cancer | A pharynx cancer that is located_in the oropharynx. |
| renal pelvis carcinoma | |
| seckel syndrome | An autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. |
| masters-allen syndrome | |
| tick paralysis | A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage. |
| 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. |
| urinary bladder small cell neuroendocrine carcinoma | |
| lactose intolerance | OMIM mapping confirmed by DO. [SN]. |
| brill-zinsser disease | An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses. |
| cervical adenocarcinoma | A cervix carcinoma that derives_from epithelial cells of glandular origin. |
| human monocytic ehrlichiosis | An ehrlichiosis that results_in infection located_in monocyte or located_in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted_by black-legged tick (Ixodes scapularis), transmitted_by western black-legged tick (Ixodes pacificus) or transmitted_by castor bean tick (Ixodes ricinus,). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash. |
| pseudogout | An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint. |
| antley-bixler syndrome | An autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene. |
| skin hemangioma | |
| dirofilariasis | A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions. |
| autoimmune disease of urogenital 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 urogenital tract. |
| blue cone monochromacy | An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance. |
| tuberculous peritonitis | A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation. |
| cutaneous t cell lymphoma | A non-Hodgkin's lymphoma that is caused by a mutation of T cells. |
| sclerosing hepatic carcinoma | |
| central retinal vein occlusion | |
| glomus tumor | A hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body. |
| salivary gland disease | |
| adjustment disorder | A disease of mental health that is an abnormal and excessive emotional and behavioral reaction to a life stress that develops within 3 months of a life stress, and which is stronger or greater than what would be expected for the type of event that occurred. |
| metanephric adenoma | |
| plasmacytic leukemia | |
| jaw cancer | A bone cancer and jaw disease that is located_in the jaw and results_in a swollen jaw, results_in numbness or a tingling sensation in jaw, and results_in an abnormal growth of the jaw bone. |
| radiation cystitis | |
| submandibular adenitis | |
| synchronous multifocal osteogenic sarcoma | |
| intracortical osteogenic sarcoma | |
| skin benign neoplasm | |
| mediastinal gray zone lymphoma | |
| plasmodium falciparum malaria | A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever. |
| mesenteric vascular occlusion | |
| renal pelvis adenocarcinoma | A renal pelvis carcinoma that derives_from epithelial cells of glandular origin. |
| hyperlysinemia | An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood. |
| sudden infant death syndrome | Unexpected death in infancy which remains unexplained following autopsy, review of the medical history, and investigation of the death circumstances and death scene. |
| kearns-sayre syndrome | OMIM mapping confirmed by DO. [SN]. |
| epithelial predominant wilms' tumor | |
| eye and adnexa disease | A sensory system disease that is located_in the eye or the adnexa of the eye. |
| precursor lymphoblastic lymphoma/leukemia | |
| predominantly cortical thymoma | |
| gliosarcoma | |
| peripheral primitive neuroectodermal tumor | A bone cancer that has_material_basis in neural crest cells derived_from undeveloped, undifferentiated neuroectoderm. |
| 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. |
| ulnar neuropathy | |
| cerebellopontine angle tumor | |
| breast malignant phyllodes tumor | |
| pleurisy | A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs. |
| teratocarcinoma | A mixed germ cell tumor that is a mixture of teratoma with embryonal carcinoma, or with choriocarcinoma, or with both. |
| ganglioneuroblastoma | A moderately malignant neoplasm composed of primitive neuroectodermal cells dispersed in myxomatous or fibrous stroma intermixed with mature ganglion cells. It may undergo transformation into a neuroblastoma. It arises from the sympathetic trunk or less frequently from the adrenal medulla, cerebral cortex, and other locations. Cervical ganglioneuroblastomas may be associated with HORNER SYNDROME and the tumor may occasionally secrete vasoactive intestinal peptide, resulting in chronic diarrhea.|A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, and nodular.|A moderately malignant neoplasm composed of primitive neuroectodermal cells dispersed in myxomatous or fibrous stroma intermixed with mature ganglion cells. It may undergo transformation into a neuroblastoma. It arises from the sympathetic trunk or less frequently from the adrenal medulla, cerebral cortex, and other locations. Cervical ganglioneuroblastomas may be associated with HORNER SYNDROME and the tumor may occasionally secrete vasoactive intestinal peptide, resulting in chronic diarrhea (MeSH).|A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular. |
| hemangioma of spleen | |
| conjunctival pigmentation | |
| collecting duct carcinoma | Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body). |
| cutaneous mycosis | A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions. |
| muscular dystrophy-dystroglycanopathy | Xref MGI. |
| stomatitis | |
| dental pulp disease | |
| transient global amnesia | An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories. |
| vasculitis | A vascular disease that is characterized by inflammation of the blood vessels. |
| chikungunya | A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus, which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash. |
| myotonic dystrophy type 2 | A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_physical_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one. |
| transient refractive change | |
| 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. |
| gamma-amino butyric acid metabolism disorder | An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway. |
| berylliosis | A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds. |
| sleep apnea | A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep. |
| acute lymphocytic leukemia | A lymphoblastic leukemia that is characterized by over production of lymphoblasts. |
| adenomatoid tumor | |
| plague | A primary bacterial infectious disease that results_in infection, located_in lymph node, located_in vasculature or located_in lungs, has_material_basis_in Yersinia pestis, which is transmitted_by oriental rat flea (Xenopsylla cheopis) infected by feeding on rodents and other mammals, transmitted_by air, transmitted_by direct contact or transmitted_by ingestion of contaminated undercooked food. |
| granulosa cell tumor | |
| vulva cancer | |
| benign peritoneal mesothelioma | |
| lipoid nephrosis | |
| retroperitoneal cancer | An organ system cancer located_in the retroperitoneal space that is manifested in retroperitoneal space in the abdominal cavity behind the peritoneum. |
| exophthalmos | An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit. |
| neutral lipid storage disease | A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues. |
| strabismus | |
| dysplastic nevus syndrome | OMIM mapping confirmed by DO. [SN]. |
| brachial plexus lesion | A brachial plexus neuropathy characterized by an abnormality, usually caused by disease or trauma, located in the brachial plexus. |
| large cell carcinoma | A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm. |
| panophthalmitis | |
| factitious disorder | A disease of mental health where symptoms are deliberately produced, feigned or exaggerated in order to falsely demonstrate the presence of an illness. |
| aseptic meningitis | |
| subacute myeloid leukemia | |
| posterior uveitis | |
| muscular disease | A musculoskeletal system disease that affects the muscles. |
| articular cartilage disease | |
| 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. |
| rickets | A bone remodeling disease that has_material_basis_in a vitamin D deficiency in children which results_in softening and deformity located_in bone. |
| epithelial malignant thymoma | |
| migraine with aura | A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon. |
| multicentric reticulohistiocytosis | A rare systemic granulomatous syndrome characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis. |
| atypical depressive disorder | A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite (comfort eating), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection. |
| peritoneal serous papillary adenocarcinoma | |
| vitamin k deficiency hemorrhagic disease | |
| ovarian embryonal carcinoma | An embryonal carcinoma that is located_in the ovary. |
| cervical clear cell adenocarcinoma | |
| congenital hypothyroidism | A hypothyroidism that is present at birth. |
| proliferative vitreoretinopathy | |
| tumor of exocrine pancreas | |
| walker-warburg syndrome | OMIM mapping confirmed by DO. [SN]. |
| differentiating neuroblastoma | |
| sertoli cell tumor | |
| glanzmann's thrombasthenia | OMIM mapping confirmed by DO. [LS]. |
| vulvovaginitis | |
| breast papillary carcinoma | |
| qualitative platelet defect | |
| primary cerebellar degeneration | |
| leydig cell tumor | |
| gastrointestinal system cancer | An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system. |
| bone cancer | A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue. |
| pseudoachondroplasia | An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism. |
| birk-barel syndrome | OMIM mapping confirmed by DO. [SN]. |
| trichinosis | A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi . Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur. |
| sweat gland neoplasm | |
| postcholecystectomy syndrome | |
| skeletal muscle neoplasm | |
| separation anxiety disorder | An anxiety disorder that involves the feeling of excessive and inappropriate levels of anxiety over being separated from a person to whom the individual has a strong emotional attachment or place. |
| atopic dermatitis | A dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking. |
| jervell-lange nielsen syndrome | OMIM mapping confirmed by DO. [SN]. |
| ureterocele | OMIM mapping confirmed by DO. [LS]. |
| xanthomatosis | A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts. |
| cerebellopontine angle meningioma | |
| pulmonary emphysema | |
| ascending colon cancer | |
| glottis squamous cell carcinoma | |
| optic atrophy | Xref MGI. |
| cribriform carcinoma | |
| infundibulocystic basal cell carcinoma | Xref MGI. |
| lung squamous cell carcinoma | A non-small cell lung carcinoma that has_material_basis_in the squamous cell. |
| ocular melanoma | An ocular cancer that has_material_basis_in melanocytes and is located_in the eye. |
| leiomyoma cutis | |
| clear cell adenofibroma | |
| vulvovaginal candidiasis | A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge. |
| mediastinal cancer | A thoracic cancer that is located_in the mediastinum. |
| pseudotumor cerebri | OMIM mapping confirmed by DO. [SN]. |
| 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. |
| early onset absence epilepsy | A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years. |
| functional gastric disease | |
| 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. |
| penicilliosis | An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions. |
| pericholangitis | |
| leber congenital amaurosis | A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. |
| microglandular adenosis of breast | |
| suprasellar meningioma | |
| hemorrhagic fever with renal syndrome | A viral infectious disease that is a hemorrhagic fever, located_in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade virus, has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted_by rodents. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure. |
| pilomyxoid astrocytoma | |
| eosinophilic gastroenteritis | |
| 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. |
| pneumatosis cystoides intestinalis | |
| urinary system disease | A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra. |
| survival motor neuron spinal muscular atrophy | A spinal muscular atrophy that is associated with the survival of motor neuron protein. |
| balanitis | |
| alopecia universalis | |
| clear cell meningioma | |
| osteopetrosis | An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones. |
| eastern equine encephalitis | A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted_by Aedes, transmitted_by Coquillettidia, and transmitted_by Culex species of mosquitoes. The infection has_symptom sudden onset of headache, has_symptom high fever, has_symptom chills, has_symptom vomiting, has_symptom disorientation, has_symptom seizures, and has_symptom coma. |
| anal margin carcinoma | An anal carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anal margin (where the canal meets the outside skin at the anus). |
| retinal detachment | OMIM mapping confirmed by DO. [SN]. |
| colon lymphoma | |
| alveolar rhabdomyosarcoma | A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities.|Alveolar |
| bile duct cancer | A biliary tract cancer that is located_in the bile duct. |
| liver cirrhosis | |
| erythromelalgia | |
| thromboangiitis obliterans | OMIM mapping confirmed by DO. [LS]. |
| 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. |
| functional colonic disease | |
| gyrate atrophy | OMIM mapping by NeuroDevNet. [LS]. |
