DISEASES Text-mining Gene-Disease Assocation Evidence Scores Dataset

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
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  1. 15309 genes
  2. 4628 diseases
  3. 832618 gene-disease associations

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disease Gene Sets

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 and characterized by an enlarged heart.
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 hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.
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 An autoimmune disease of gastrointestinal tract 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.
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 lipomatous cancer that arises in fat cells in deep soft tissue retroperitoneum.
periodontitis
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 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 mood disorder that involves alternating periods of mania and depression.
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 hypersensitivity reaction type II disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.
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 OMIM mapping confirmed by DO. [SN].
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 A leukocyte disorder that is a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection.
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
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 A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint and/or redness located_in skin over the joint.
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 A rectal disease that involves inflammation of the rectal mucosa, which results from infection, inflammatory bowel disease, or radiation. Sexually transmitted pathogens (Neisseria gonorrhoeae, Chlamydia trachomatis, herpes simplex virus 1 and 2, Treponema pallidum) and enteric pathogens (Campylobacter, Shigella, Salmonella) are involved in the disease. Symptoms are rectal discomfort and bleeding.
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 skin carcinoma affecting basal cells.
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
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 A cell type benign neoplasm that has_material_basis_in glial-type cells.
rubeosis iridis
acinar cell cystadenocarcinoma
uterine fibroid A uterine benign neoplasm derived from the smooth muscle layer of the uterus.
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 glomerulonephritis characterized by build up of IgA antibody in the glomerulus.
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 A skin disease where there is a diffuse infection of connective tissue with severe inflammation of dermal and subcutaneous layers of the skin. Cellulitis can be caused by normal skin flora or by exogenous bacteria, and often occurs where the skin has previously been broken: cracks in the skin, cuts, blisters, burns, insect bites, surgical wounds, or sites of intravenous catheter insertion.
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 sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.
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 A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision.
dacryoadenitis
papillary craniopharyngioma
retroperitoneal hemangiopericytoma
colitis An inflammatory bowel disease that involves inflammation located_in colon.
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 myeloma that is located_in the plasma cells in bone marrow.
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 connective tissue cancer that has_material_basis_in cells derived from transformed cells that produce cartilage.
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 parasitic protozoa 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 malignant glioma that is has_material_basis_in astocyte cells, a type of star-shaped glial cell, located_in the cerebrum.
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 An ischemic bone disease that results_in necrosis located_in bone.
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
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 A thyroid cancer that has_material_basis_in epithelial cells.
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 primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage.
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
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 A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.
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 cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.
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
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
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 hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.
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 heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.
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 hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures.
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 A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue.
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 vascular tumor that results_in rapidly proliferating, extensively infiltrating anaplastic cells derived_from blood vessels and derived_from the lining of irregular blood-filled spaces.
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 characterized by the inability to see farther objects clearly.
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
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 renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.
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 A skeletal muscle cancer that arise from skeletal muscle progenitors.
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
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
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 A connective tissue cancer that has_material_basis_in fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern.
extrapulmonary tuberculosis A tuberculosis that occurs at body sites other than the lung.
esophageal carcinoma A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
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 A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.
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 lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.
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 An anxiety disorder that involves discress but neither delusions nor hallucinations.
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 An anxiety disorder 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
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 An idiopathic interstitial pneumonia which is a distinctive type of chronic fibrosing interstitial pneumonia with thick scarring in the lung creating a honeycomb appearance. The main symptoms start insidiously as shortness of breath on exertion, cough, and diminished stamina. Other common complaints include weight loss and fatigue. The level of oxygen in the blood decreases, and the skin may take on a bluish tinge (called cyanosis) and the ends of the fingers may become thick or club-shape. In most people, symptoms worsen over a period ranging from about 6 months to several years.
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
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 tauopathy that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting 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.
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 Segmental accumulation of scar tissue in individual (but not all) glomeruli.
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 viral infectious disease that results_in infection located_in respiratory tract, has_material_basis_in 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.
testicular disease
acute maxillary sinusitis A maxillary sinusitis which lasts for less than 4 weeks.
pineal region teratoma
leiomyosarcoma A malignant smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis.
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 cell type cancer that has_material_basis_in abnormally proliferating cells derived_from precursor cells called blast 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 An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.
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
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 An eye disease where one or both eyeballs are abnormally small.
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 An arthritis that has_material_basis_in uric acid crystal deposits located_in joint.
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
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 A substance dependence that involves the continued use of drugs despite problems related to use of the substance.
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 disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.
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 urinary system disease that is located_in the kidney.
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
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 bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, 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
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