| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
|
decubitus ulcer
|
bedsore; Decubitus (pressure) ulcer; Decubitus ulc..
[+]
bedsore; Decubitus (pressure) ulcer; Decubitus ulcer; Decubitus ulcer any site; Decubitus ulcer, elbow; Decubitus ulcer, lower back; Decubitus ulcer, other site; Decubitus ulcer, upper back; 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; grade III squamous Intraepithelial Lesion of penis; Penile intraepithelial neoplasia grade III; Queyrat's erythroplasia
[-]
|
n_a
|
|
|
|
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.
[-]
|
|
|
|
scotoma
|
Blind spot area scotoma; Enlarged angioscotoma; En..
[+]
Blind spot area scotoma; Enlarged angioscotoma; Enlarged blind spot; Enlarged paracaecal scotoma; Generalized visual field contraction or constriction; Scotoma of blind spot area; Sector or arcuate visual field defects
[-]
|
n_a
|
|
|
|
hordeolum
|
Boil of eyelid; Furuncle of eyelid; Stye
|
Hordeolum is a sequelae of infectious and parasiti.. [+]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.
[-]
|
|
|
|
osteonecrosis
|
bone necrosis; Avascular necrosis of bone
|
An ischemic bone disease that results_in necrosis .. [+]An ischemic bone disease that results_in necrosis located_in bone.
[-]
|
|
|
|
anthracosis
|
black lung; Coal Miner's Pneumoconiosis; Coal work..
[+]
black lung; Coal Miner's Pneumoconiosis; Coal workers' lung; Coal workers' pneumoconiosis; Melanoedema
[-]
|
n_a
|
|
|
|
yaws
|
Bouba; frambesia; frambesia tropica; frambosie; po..
[+]
Bouba; frambesia; frambesia tropica; frambosie; polypapilloma tropicum; thymosis
[-]
|
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; chancre of yaws; Frambesia, initial or primary; Initial frambesial ulcer; Initial lesions of yaws; 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; Diffuse glob..
[+]
beta galactocerebrosidase deficiency; Diffuse globoid body sclerosis; Galactosylceramide beta-galactosidase deficiency (disorder); globoid cell leukodystrophy; GLOBOID CELL LEUKOENCEPHALOPATHY; Krabbe's disease; Krabbe's leukodystrophy
[-]
|
n_a
|
|
|
|
adrenoleukodystrophy
|
Bronze Schilder disease; ALD; diffuse cerebral scl..
[+]
Bronze Schilder disease; ALD; diffuse cerebral sclerosis of Schilder; diffuse sclerosis; Encephalitis periaxialis concentrica; Encephalitis periaxialis, Schilder's; Schilder disease; Schilder's disease; Siemerling-Creutzfeldt Disease; SUDANOPHILIC CEREBRAL SCLEROSIS; X-linked adrenoleukodystrophy
[-]
|
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
|
n_a
|
|
|
|
mastitis
|
breast inflammation; Inflammatory breast disease; ..
[+]
breast inflammation; Inflammatory breast disease; Inflammatory disease of breast
[-]
|
n_a
|
|
|
|
fat necrosis of breast
|
breast Fat necrosis
|
n_a
|
|
|
|
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.
[-]
|
|
|
|
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; acute gastric ulcer with hemorrhage AND obstruction (disorder); acute gastric ulcer with hemorrhage AND perforation; 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 perforation, with obstruction; acute gastric ulcer with hemorrhage and perforation, without mention of obstruction; 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 obstruction; acute gastric ulcer with hemorrhage, with perforation AND with obstruction (disorder); acute gastric ulcer with perforation; acute gastric ulcer with perforation AND obstruction; acute gastric ulcer with perforation AND obstruction (disorder); acute gastric ulcer with perforation, with obstruction; acute gastric ulcer without hemorrhage and without perforation; acute gastric ulcer without hemorrhage, without perforation AND without obstruction; 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; chronic gastric ulcer without hemorrhage AND without perforation but with obstruction; chronic gastric ulcer without hemorrhage AND without perforation but with obstruction (disorder); chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction
[-]
|
n_a
|
|
|
|
epidemic pleurodynia
|
Bamble disease; Bornholm disease; devil's grip; ep..
[+]
Bornholm disease; Bamble disease; devil's grip; epidemic myalgia; Epidemic pleurisy; Epidemic, myositis
[-]
|
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.
[-]
|
|
|
|
asphyxia neonatorum
|
Birth asphyxia; Asphyxia - birth; Asphyxia, in liv..
[+]
Birth asphyxia; Asphyxia - birth; Asphyxia, in liveborn infant; postnatal asphyxia
[-]
|
n_a
|
|
|
|
cat-scratch disease
|
benign lymphoreticulosis; cat scratch fever; Debre..
[+]
benign lymphoreticulosis; cat scratch fever; Debre's Syndrome; Debre-Mollaret Syndrome; Foshay-Mollaret 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 (disorder); benig..
[+]
benign intracranial hypertension (disorder); benign intracranial hypertension; 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
[-]
|
n_a
|
|
|
|
Frey syndrome
|
Baillarger syndrome; gustatory hyperhidrosis (diso..
[+]
Baillarger syndrome; gustatory hyperhidrosis (disorder); gustatory sweating
[-]
|
n_a
|
|
|
|
infant gynecomastia
|
breast engorgement in newborn; Neonatal gynaecomas..
[+]
breast engorgement in newborn; Neonatal gynaecomastia
[-]
|
n_a
|
|
|
|
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 genetic disease that is characterized by slow gr.. [+]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.
[-]
|
|
|
|
Lyme disease
|
Bannworth's syndrome; Bannwarth syndrome (disorder..
[+]
Bannworth's syndrome; Bannwarth syndrome (disorder); Lyme borreliosis; lyme neuroborreliosis; neuroborreliosis; Neurological Lyme disease
[-]
|
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.
[-]
|
|
|
|
cryptococcosis
|
Busse-Buschke's disease; cryptococcal infection; c..
[+]
Busse-Buschke's disease; cryptococcal infection; cryptococcus neoformans infection; European cryptococcosis; torula; torulosis
[-]
|
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, dyspnea, alveolar infiltrates on chest radiograph, and various degrees of anaemia. Following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h.
[-]
|
|
|
|
dengue disease
|
breakbone fever; classic dengue; classical dengue; ..
[+]
breakbone fever; classic dengue; classical dengue; Dengue Fever
[-]
|
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.
[-]
|
|
|
|
filarial elephantiasis
|
Bancroftian filarial chyluria; Bancroftian elephan..
[+]
Bancroftian filarial chyluria; Bancroftian elephantiasis (disorder); elephantiasis of eyelid; Elephantiasis of eyelid (disorder); Lymphatic filariasis (disorder)
[-]
|
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 cirrhosis
|
biliary liver cirrhosis; cholestatic cirrhosis; ch..
[+]
biliary liver cirrhosis; cholestatic cirrhosis; chronic nonsuppurative destructive cholangitis
[-]
|
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; Fragilitas ossium; Lobstein'..
[+]
brittle bone disease; Fragilitas ossium; Lobstein's syndrome; Osteopsathyrosis; Vrolik's disease
[-]
|
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.
[-]
|
|
|
|
Graves' disease
|
Basedow's disease; exophthalmic goiter; Grave's di..
[+]
Basedow's disease; exophthalmic goiter; Grave's disease; 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.
[-]
|
|
|
|
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
[-]
|
n_a
|
|
|
|
ataxia telangiectasia
|
Boder-Sedgwick syndrome; Louis Bar syndrome
|
n_a
|
|
|
|
Sly syndrome
|
beta-glucuronidase deficiency; deficiency of beta-..
[+]
beta-glucuronidase deficiency; deficiency of beta-glucuronidase; MPS VII - Sly syndrome; mucopolysaccharidosis VII
[-]
|
A mucopolysaccharidosis characterized by a deficie.. [+]A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans.
[-]
|
|
|
|
thromboangiitis obliterans
|
Buerger's disease; Presenile gangrene; Presenile g..
[+]
Buerger's disease; Presenile gangrene; Presenile gangrene (disorder); Thromboangiitis obliterans; Thromboangiitis obliterans (disorder); Thromboangiitis obliterans [Buerger's disease]; Thromboangiitis obliterans NOS (disorder)
[-]
|
n_a
|
|
|
|
endomyocardial fibrosis
|
Becker's disease; (Becker's disease) or (obscure A..
[+]
Becker's disease; (Becker's disease) or (obscure African cardiomyopathy); African endomyocardial fibrosis; Endomyocardial sclerosis; Obscure African cardiomyopathy (disorder)
[-]
|
n_a
|
|
|
|
pernicious anemia
|
Biermer's anemia; Addison's anaemia; ANEMIA PERNIC..
[+]
Biermer's anemia; Addison's anaemia; ANEMIA PERNICIOUS
[-]
|
n_a
|
|
|
|
color blindness
|
BLINDNESS COLOR; Colour blindness; Colour vision d..
[+]
BLINDNESS COLOR; Colour blindness; Colour vision deficiency
[-]
|
A blindness that is characterized by the inability.. [+]A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions.
[-]
|
|
|
|
tuberous sclerosis
|
Bourneville's disease; cerebral sclerosis; Epiloia..
[+]
Bourneville's disease; cerebral sclerosis; Epiloia; Tuberose sclerosis; Tuberous sclerosis; Tuberous sclerosis syndrome (disorder)
[-]
|
n_a
|
|
|
|
purulent labyrinthitis
|
bacterial labyrinthitis; acute suppurative labyrin..
[+]
bacterial labyrinthitis; acute suppurative labyrinthitis; Suppurative labyrinthitis; Suppurative labyrinthitis (disorder)
[-]
|
A labyrinthitis which is a bacterial infectious di.. [+]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.
[-]
|
|
|
|
cholestasis
|
bile occlusion; Obstruction of bile duct
|
n_a
|
|
|
|
hypermobility syndrome
|
benign joint hypermobility; hypermobility syndrome..
[+]
benign joint hypermobility; hypermobility syndrome (disorder)
[-]
|
n_a
|
|
|
|
myringitis bullosa hemorrhagica
|
Bullous myringitis
|
A tympanic membrane disease that is characterized .. [+]A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection.
[-]
|
|
|
