???pagination.result.count???
Disease |
Synonyms |
Description |
Articles |
Phenotypes |
esophageal basaloid squamous cell carcinoma
|
Basaloid squamous carcinoma of esophagus
|
n_a
|
|
|
ankylosing spondylitis
|
Bekhterev syndrome; Bekhterev's disease; Marie-Str..
[+]
Bekhterev's disease; Bekhterev syndrome; Marie-Strumpell disease
[-]
|
A bone inflammation disease that results_in inflam.. [+]
A bone inflammation disease that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.
[-]
|
|
|
anus basaloid carcinoma
|
basaloid carcinoma of the anus; anal Basaloid carc..
[+]
basaloid carcinoma of the anus; anal Basaloid carcinoma
[-]
|
n_a
|
|
|
Nijmegen breakage syndrome
|
Berlin breakage syndrome; Microcephaly, normal int..
[+]
Berlin breakage syndrome; Microcephaly, normal intelligence and immunodeficiency (disorder); Seemanova syndrome; immunodeficiency-microcephaly-chromosomal instability syndrome; Microcephaly, normal intelligence and immunodeficiency; microcephaly-immunodeficiency-lymphoreticuloma syndrome; NBS; Seemanova syndrome II; ataxia-telangiectasia variant; Seemanova syndrome type 2
[-]
|
A syndrome characterized by chromosomal instabilit.. [+]
A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3.
[-]
|
1 articles
|
|
childhood multilocular cystic kidney neoplasm
|
benign Multilocular cystic renal tumor; pediatric ..
[+]
benign Multilocular cystic renal tumor; pediatric Multilocular cystic renal tumor
[-]
|
A childhood renal Wilms cancer that occurs in chil.. [+]
A childhood renal Wilms cancer that occurs in children. It encompasses two histologically distinct but grossly indistinguishable lesions: cystic nephroma and cystic partially differentiated nephroblastoma (CPDN).
[-]
|
|
|
mediastinal psammomatous neurilemmoma
|
benign mediastinal psammomatous neurilemmoma; beni..
[+]
benign mediastinal psammomatous neurilemmoma; benign Psammomatous Schwannoma of mediastinum
[-]
|
A mediastinal neurilemmoma characterized by the pr.. [+]
A mediastinal neurilemmoma characterized by the presence of psammoma bodies.
[-]
|
|
|
thyroid Hurthle cell adenoma
|
benign oncocytoma of the thyroid
|
n_a
|
|
|
actinomycosis
|
boil; actinomycetoma; Actinomycotic madura foot (d..
[+]
boil; actinomycetoma; Actinomycotic madura foot (disorder); Actinomycotic mycetoma of foot; Madura foot due to Actinomadura (disorder); Actinomycotic madura foot; Madura foot due to Actinomadura; actinomycotic infection; Actinomycotic mycetema
[-]
|
A commensal bacterial infectious disease that resu.. [+]
A commensal bacterial infectious disease that results in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures.
[-]
|
|
|
decubitus ulcer
|
bedsore; Decubitus (pressure) ulcer; Decubitus ulc..
[+]
bedsore; Decubitus (pressure) ulcer; Decubitus ulcer; Decubitus ulcer any site; Decubitus ulcer, lower back; Decubitus ulcer, other site; Decubitus ulcer, upper back; Decubitus ulcer, elbow; pressure sores; pressure ulcer
[-]
|
A chronic ulcer of skin where the ulcer is an ulce.. [+]
A chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure.
[-]
|
|
|
penis carcinoma in situ
|
Bowen's disease of penis; carcinoma in situ of pen..
[+]
Bowen's disease of penis; carcinoma in situ of penis; Penile intraepithelial neoplasia grade III; Queyrat's erythroplasia; grade III squamous Intraepithelial Lesion of penis
[-]
|
An in situ carcinoma that is located_in the penis.
|
|
|
maple syrup urine disease
|
branched chain ketoaciduria; dihydrolipoamide dehy..
[+]
branched chain ketoaciduria; dihydrolipoamide dehydrogenase deficiency; Ketoacidaemia
[-]
|
An organic acidemia that is caused by a deficiency.. [+]
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.
[-]
|
|
|
nasal cavity benign neoplasm
|
Benign Nasal Cavity Neoplasm; neoplasm of nasal ca..
[+]
Benign Nasal Cavity Neoplasm; neoplasm of nasal cavity (disorder); tumor of the nasal cavity; neoplasm of nasal cavity
[-]
|
A respiratory system benign neoplasm that arises f.. [+]
A respiratory system benign neoplasm that arises from the nasal cavity.
[-]
|
|
|
scotoma
|
Blind spot area scotoma; Enlarged angioscotoma; En..
[+]
Blind spot area scotoma; Enlarged angioscotoma; Enlarged blind spot; Sector or arcuate visual field defects; Generalized visual field contraction or constriction; Enlarged paracaecal scotoma; Scotoma of blind spot area
[-]
|
n_a
|
|
|
hordeolum
|
Boil of eyelid; Furuncle of eyelid; Stye; Hordeolu..
[+]
Boil of eyelid; Furuncle of eyelid; Stye; Hordeolum externum
[-]
|
An eyelid disease that is characterized by an infe.. [+]
An eyelid disease that is characterized by an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection.
[-]
|
|
|
acute biphenotypic leukemia
|
B- and T-cell mixed leukemia; MPAL; mixed phenotyp..
[+]
B- and T-cell mixed leukemia; MPAL; mixed phenotype acute leukemia
[-]
|
An acute leukemia that is characterized by the occ.. [+]
An acute leukemia that is characterized by the occurrence of more than one type of leukemia at the same time resulting from either the occurrence of blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens.
[-]
|
|
|
osteonecrosis
|
bone necrosis; Avascular necrosis of bone; aseptic..
[+]
bone necrosis; Avascular necrosis of bone; aseptic necrosis
[-]
|
An ischemic bone disease that results_in necrosis .. [+]
An ischemic bone disease that results_in necrosis located_in bone.
[-]
|
|
|
anthracosis
|
black lung; Coal workers' lung; Melanoedema; Coal ..
[+]
black lung; Coal workers' lung; Melanoedema; Coal Miner's Pneumoconiosis; Coal workers' pneumoconiosis
[-]
|
A pneumoconiosis that is characterized by depositi.. [+]
A pneumoconiosis that is characterized by deposition of carbon or coal dust in the lung parenchyma leading to the formation of black nodules and emphysema.
[-]
|
|
|
yaws
|
Bouba; frambesia; frambosie; thymosis; polypapillo..
[+]
Bouba; frambesia; frambosie; thymosis; polypapilloma tropicum; frambesia tropica
[-]
|
A primary bacterial infectious disease that result.. [+]
A primary bacterial infectious disease that results in infection located in skin, located in joint or located in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted by direct skin contact with an infected person. The infection has symptom skin lesions.
[-]
|
|
|
secondary hypertrophic osteoarthropathy
|
Bamberger-Marie disease; HPOA - hypertrophic pulmo..
[+]
Bamberger-Marie disease; HPOA - hypertrophic pulmonary osteoarthropathy; hypertrophic pulmonary osteoarthropathy; hypertrophic pulmonary osteoarthropathy (disorder); hypertrophic pulmonary osteoarthropathy (disorder) [Ambiguous]; Marie Bamberger disease
[-]
|
n_a
|
|
|
early yaws
|
bone and joint yaws lesion; bone and joint lesions..
[+]
bone and joint yaws lesion; bone and joint lesions due to yaws; Initial lesions of yaws; chancre of yaws; Initial frambesial ulcer; Frambesia, initial or primary; primary frambesia
[-]
|
A yaws that results in initial papule at the site .. [+]
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.
[-]
|
|
|
Krabbe disease
|
beta galactocerebrosidase deficiency; Galactosylce..
[+]
beta galactocerebrosidase deficiency; Galactosylceramide beta-galactosidase deficiency (disorder); GLOBOID CELL LEUKOENCEPHALOPATHY; Krabbe's leukodystrophy; globoid cell leukodystrophy; Galactosylceramide beta-galactosidase deficiency; Diffuse globoid body sclerosis; Krabbe's disease
[-]
|
n_a
|
|
|
adrenoleukodystrophy
|
Bronze Schilder disease; ALD; diffuse sclerosis; E..
[+]
Bronze Schilder disease; ALD; diffuse sclerosis; Encephalitis periaxialis concentrica; Schilder disease; SUDANOPHILIC CEREBRAL SCLEROSIS; X-linked adrenoleukodystrophy; diffuse cerebral sclerosis of Schilder; Siemerling-Creutzfeldt Disease; Schilder's disease; sudanophilic cerebral sclerosis; Encephalitis periaxialis, Schilder's
[-]
|
A leukodystrophy that disrupts the breakdown of ve.. [+]
A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.
[-]
|
|
|
hypertrophy of breast
|
breasts enlarged; large breast
|
A breast disease that is characterized by the prog.. [+]
A breast disease that is characterized by the progressive, excessive enlargement of breast connective tissue.
[-]
|
|
|
mastitis
|
breast inflammation; Inflammatory breast disease; ..
[+]
breast inflammation; Inflammatory breast disease; Inflammatory disease of breast
[-]
|
A breast disease characterized by painful infectio.. [+]
A breast disease characterized by painful infection of the breast tissue.
[-]
|
|
|
fat necrosis of breast
|
breast Fat necrosis
|
A breast disease that is characterized by the deat.. [+]
A breast disease that is characterized by the death of breast adipocytes, usually secondary to injury.
[-]
|
|
|
giardiasis
|
beaver feaver; Infection by Giardia lamblia
|
A parasitic protozoa infectious disease that invol.. [+]
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.
[-]
|
1 articles
|
|
gastric ulcer
|
bleeding acute gastric ulcer; acute gastric ulcer ..
[+]
bleeding acute gastric ulcer; acute gastric ulcer with haemorrhage and perforation; acute gastric ulcer with hemorrhage AND obstruction (disorder); acute gastric ulcer with hemorrhage AND perforation; acute gastric ulcer with hemorrhage AND perforation (disorder); acute gastric ulcer with hemorrhage AND perforation [dup] (disorder); acute gastric ulcer with hemorrhage AND with perforation but without obstruction; acute gastric ulcer with hemorrhage AND with perforation but without obstruction (disorder); acute gastric ulcer with hemorrhage, with perforation AND with obstruction (disorder); acute gastric ulcer with perforation; acute gastric ulcer with perforation AND obstruction (disorder); acute gastric ulcer without hemorrhage, without perforation AND without obstruction (disorder); acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction; chronic gastric ulcer without hemorrhage AND without perforation but with obstruction; chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction; acute gastric ulcer with hemorrhage and obstruction; acute gastric ulcer with hemorrhage and perforation, without mention of obstruction; acute gastric ulcer with perforation AND obstruction; chronic gastric ulcer without hemorrhage AND without perforation but with obstruction (disorder); acute gastric ulcer with hemorrhage, with obstruction; acute gastric ulcer without hemorrhage and without perforation; acute gastric ulcer without hemorrhage, without perforation AND without obstruction; chronic gastric ulcer without hemorrhage AND without perforation; acute gastric ulcer with hemorrhage and perforation; acute gastric ulcer with hemorrhage AND obstruction; acute gastric ulcer with hemorrhage and perforation, with obstruction; acute gastric ulcer with perforation, with obstruction; acute gastric ulcer with hemorrhage, with perforation AND with obstruction
[-]
|
n_a
|
|
|
epidemic pleurodynia
|
Bornholm disease; Bamble disease; epidemic myalgia..
[+]
Bamble disease; Bornholm disease; epidemic myalgia; Epidemic, myositis; devil's grip; Epidemic pleurisy
[-]
|
A viral infectious disease that results in necrosi.. [+]
A viral infectious disease that results in necrosis located in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has symptom severe chest pain, has symptom fever, has symptom malaise, has symptom pleuritis, and has symptom headache.
[-]
|
|
|
intracranial aneurysm
|
brain aneurysm
|
n_a
|
|
|
urinary bladder cancer
|
bladder cancer; tumor of the bladder
|
An urinary system cancer that results_in malignant.. [+]
An urinary system cancer that results_in malignant growth located_in the urinary bladder.
[-]
|
1 articles
|
|
asphyxia neonatorum
|
Birth asphyxia; Asphyxia - birth; Asphyxia, in liv..
[+]
Birth asphyxia; Asphyxia - birth; Asphyxia, in liveborn infant; postnatal asphyxia
[-]
|
A respiratory system disease that is characterized.. [+]
A respiratory system disease that is characterized by deprivation of oxygen to a newborn infant that lasts long enough during the birth process to cause physical harm, usually to the brain.
[-]
|
|
|
cat-scratch disease
|
benign lymphoreticulosis; Debre's Syndrome; Debre-..
[+]
benign lymphoreticulosis; Debre's Syndrome; Debre-Mollaret Syndrome; Foshay-Mollaret Cat Scratch Fever; cat scratch fever
[-]
|
A bartonellosis that results_in infection located_.. [+]
A bartonellosis 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.
[-]
|
|
|
sarcoidosis
|
Boeck sarcoid; lymphogranulomatosis
|
A hypersensitivity reaction type IV disease charac.. [+]
A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.
[-]
|
|
|
pseudotumor cerebri
|
benign intracranial hypertension; benign intracran..
[+]
benign intracranial hypertension; benign intracranial hypertension (disorder); benign intracran. hypt.; idiopathic intracranial hypertension; Pseudotumor cerebri
[-]
|
n_a
|
|
|
Horner's syndrome
|
Bernard Horner syndrome; cervical sympathetic para..
[+]
Bernard Horner syndrome; cervical sympathetic paralysis; Horner syndrome
[-]
|
An autonomic neuropathy that is characterized by t.. [+]
An autonomic neuropathy that is characterized by the classic triad of unilateral ptosis, unilateral miosis with anisocoria, and ipsilateral facial anhidrosis, resulting from unilateral paralysis of the cervical sympathetics.
[-]
|
|
|
Frey syndrome
|
Baillarger syndrome; gustatory hyperhidrosis (diso..
[+]
Baillarger syndrome; gustatory hyperhidrosis (disorder); gustatory sweating; gustatory hyperhidrosis
[-]
|
An autonomic nervous system disease that is charac.. [+]
An autonomic nervous system disease that is characterized by facial sweating and flushing with gustatory stimulation, resulting from a disruption of the auriculotemporal nerve pathways.
[-]
|
|
|
infant gynecomastia
|
breast engorgement in newborn; Neonatal gynaecomas..
[+]
breast engorgement in newborn; Neonatal gynaecomastia
[-]
|
A breast disease that is characterized by benign p.. [+]
A breast disease that is characterized by benign proliferation of glandular breast tissue and occurs in children less than one year of age.
[-]
|
|
|
cicatricial pemphigoid
|
benign mucous membrane pemphigoid with ocular invo..
[+]
benign mucous membrane pemphigoid with ocular involvement; benign mucous membrane pemphigoid; Cicatricial pemphigoid with ocular involvement; Ocular pemphigoid; ocular pemphigus
[-]
|
A pemphigoid that is characterized by skin lesions.. [+]
A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin.
[-]
|
|
|
Cornelia de Lange syndrome
|
Brachmann de Lange syndrome; De Lange syndrome
|
A syndrome that is characterized by slow growth be.. [+]
A syndrome 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.
[-]
|
|
|
Lyme disease
|
Bannworth's syndrome; Bannwarth syndrome; Bannwart..
[+]
Bannwarth syndrome; Bannworth's syndrome; Bannwarth syndrome (disorder); Lyme borreliosis; lyme neuroborreliosis; Neurological Lyme disease; neuroborreliosis
[-]
|
A primary bacterial infectious disease that result.. [+]
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.
[-]
|
1 articles
|
|
absolute glaucoma
|
blind hypertensive eye
|
A glaucoma that is characterized by a total loss o.. [+]
A glaucoma that is characterized by a total loss of vision, uncontrolled pressure in the eye, severe pain in the eye, absence of pupillary light reflex, absence of pupillary response, and the eye has a stony appearance.
[-]
|
|
|
cryptococcosis
|
Busse-Buschke's disease; cryptococcal infection; c..
[+]
Busse-Buschke's disease; cryptococcal infection; cryptococcus neoformans infection; European cryptococcosis; torulosis; torula
[-]
|
An opportunistic mycosis that results_in fungal in.. [+]
An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii.
[-]
|
|
|
pulmonary hemosiderosis
|
brown induration; brown lung; Idiopathic pulmonary..
[+]
brown lung; brown induration; Idiopathic pulmonary hemosiderosis
[-]
|
A lung disease with an unknown etiology affecting .. [+]
A lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. Examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macrophages (siderophages), and the lung biopsy shows numerous siderophages in the alveoli. Alveolar hemorrhage is characterized by hemoptysis, shortness of breath, alveolar infiltrates on chest radiograph, and various degrees of anaemia. Following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h.
[-]
|
|
|
dengue disease
|
breakbone fever; classic dengue; Dengue Fever; cla..
[+]
breakbone fever; classic dengue; Dengue Fever; classical dengue
[-]
|
A viral infectious disease that results in infecti.. [+]
A viral infectious disease that results in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding.
[-]
|
1 articles
|
|
filarial elephantiasis
|
Bancroftian elephantiasis; Bancroftian filarial ch..
[+]
Bancroftian elephantiasis; Bancroftian filarial chyluria; Bancroftian elephantiasis (disorder); elephantiasis of eyelid; Elephantiasis of eyelid (disorder); Lymphatic filariasis (disorder); Lymphatic filariasis; Elephantiasis of eyelid
[-]
|
A filariasis that is characterized by the thickeni.. [+]
A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis.
[-]
|
|
|
primary biliary cholangitis
|
biliary liver cirrhosis; cholestatic cirrhosis; ch..
[+]
biliary liver cirrhosis; cholestatic cirrhosis; chronic nonsuppurative destructive cholangitis; primary biliary cirrhosis
[-]
|
A liver cirrhosis characterized by chronic and slo.. [+]
A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.
[-]
|
|
|
osteogenesis imperfecta
|
brittle bone disease; Lobstein's syndrome; Osteops..
[+]
brittle bone disease; Lobstein's syndrome; Osteopsathyrosis; Vrolik's disease; Fragilitas ossium
[-]
|
An osteochondrodysplasia that has_material_basis_i.. [+]
An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.
[-]
|
2 articles
|
|
Graves' disease
|
Basedow's disease; Grave's disease; exophthalmic g..
[+]
Basedow's disease; Grave's disease; exophthalmic goiter; Graves disease
[-]
|
An autoimmune disease of endocrine system that inv.. [+]
An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.
[-]
|
1 articles
|
|
shigellosis
|
bacillary dysentery; Shigella boydii infectious di..
[+]
bacillary dysentery; Shigella boydii infectious disease; Shigella flexneri infectious disease; Shigella gastroenteritis; Shigella sonnei infectious disease
[-]
|
A primary bacterial infectious disease that result.. [+]
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.
[-]
|
|
|
olecranon bursitis
|
Bursitis of elbow; Bursitis of elbow region; Cappe..
[+]
Bursitis of elbow region; Bursitis of elbow; Capped elbow; Elbow bursitis (& olecranon); Miner's elbow; Miners' elbow; Shoe boil; Elbow bursitis
[-]
|
n_a
|
|
|