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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
scotoma
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Enlarged blind spot; Enlarged paracaecal scotoma; ..
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Enlarged paracaecal scotoma; Enlarged blind spot; Enlarged angioscotoma; Blind spot area scotoma; Generalized visual field contraction or constriction; Scotoma of blind spot area; Sector or arcuate visual field defects
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n_a
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allergic asthma
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extrinsic asthma with status asthmaticus; extrinsi..
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extrinsic asthma with status asthmaticus; extrinsic asthma with acute exacerbation; atopic asthma
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An asthma that is characterized by symptoms that a.. [+]
An asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. Allergic asthma is airway obstruction and inflammation that is partially reversible with medication. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness.
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cholesteatoma of external ear
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external canal cholesteatoma
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A cholesteatoma which involves invasion of the squ.. [+]
A cholesteatoma which involves invasion of the squamous tissue into a localized area of bony erosion of the ear canal. It may develop spontaneously or as a consequence of infection, trauma or surgery.
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acute ethmoiditis
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ethmoidal sinus - acute; acute ethmoid sinusitis; ..
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ethmoidal sinus - acute; acute ethmoid sinusitis; acute ethmoidal sinusitis
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A ethmoid sinusitis which lasts for less than 4 we.. [+]
A ethmoid sinusitis which lasts for less than 4 weeks.
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perianal hematoma
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External thrombosed haemorrhoids; Thrombosed exter..
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External thrombosed haemorrhoids; Thrombosed external hemorrhoids
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n_a
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microinvasive gastric cancer
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early gastric cancer; early gastric cancer (disord..
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early gastric cancer; early gastric cancer (disorder); Surface gastric cancer
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n_a
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adrenoleukodystrophy
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Encephalitis periaxialis, Schilder's; Encephalitis..
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Encephalitis periaxialis, Schilder's; Encephalitis periaxialis concentrica; ALD; Bronze Schilder disease; diffuse cerebral sclerosis of Schilder; diffuse sclerosis; Schilder disease; Schilder's disease; Siemerling-Creutzfeldt Disease; SUDANOPHILIC CEREBRAL SCLEROSIS; X-linked adrenoleukodystrophy
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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.
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protein-losing enteropathy
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Exudative enteropathy (disorder); Enteropathy, exu..
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Exudative enteropathy (disorder); Enteropathy, exudative; Protein-losing enteropathy (disorder)
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n_a
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Kuhnt-Junius degeneration
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Exudative senile macular degeneration of retina; N..
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Exudative senile macular degeneration of retina; Neovascular age-related macular degeneration; Senile macular degeneration, wet; Wet senile macular retinal degeneration
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n_a
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cholesteatoma of middle ear
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Epidermosis of ear; Epidermosis of middle ear; Cho..
[+]
Epidermosis of middle ear; Epidermosis of ear; Cholesteatoma of middle ear; Cholesteatoma of middle ear (disorder); Cholesteatoma of middle ear and mastoid; Cholesteatoma of middle ear and/or mastoid; Cholesteatoma of the middle ear; middle ear cholesteatoma; Unspecified cholesteatoma (morphologic abnormality)
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n_a
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acute hemorrhagic conjunctivitis
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Epidemic hemorrhagic conjunctivitis; Apollo diseas..
[+]
Epidemic hemorrhagic conjunctivitis; Apollo disease; viral conjunctivitis
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A viral infectious disease that results_in inflamm.. [+]
A viral infectious disease that results_in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted_by contaminated fomites or transmitted_by contact with contaminated hands. The infection has_symptom vascular dilation, has_symptom eyelid edema, has_symptom photophobia, has_symptom redness of the eyes, has_symptom watering of the eye, has_symptom conjunctival congestion, and has_symptom superficial punctate epithelial keratitis.
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typhus
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Exanthematic Typhus fever; Exanthematous typhus; E..
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Exanthematous typhus; Exanthematic Typhus fever; European typhus; Epidemic louse-borne typhus fever due to Rickettsia prowazekii; epidemic louse-borne typhus; Epidemic (louse-borne) typhus; Endemic Typhus fever; endemic flea-borne typhus; Classical typhus (fever); Famine fever; Flea typhus; Flea-borne rickettsiosis; Flea-borne typhus; Hospital fever; Jail fever; Louse-borne [epidemic] typhus; Louse-borne rickettsiosis; Louse-borne typhus; Mexican typhus; Moscow typhus; Murine [endemic] typhus; Murine typhus; Petechial fever; Prison fever; Rat flea typhus; Ship fever; Shop typhus; Typhus exanthematique; Typhus fever; Urban typhus
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A primary bacterial infectious disease that refers.. [+]
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.
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fallopian tube endometriosis
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Endometriosis of fallopian tube
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n_a
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Chandler syndrome
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Endothelial corneal dystrophy; Chandler's syndrome..
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Endothelial corneal dystrophy; Chandler's syndrome (disorder); Dystrophy of corneal endothelium; Posterior membrane corneal dystrophy; Chandler's syndrome
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A corneal dystrophy that is characterized by corne.. [+]
A corneal dystrophy that is characterized by corneal edema, iris atrophy, and secondary angle-closure glaucoma caused by an inflammatory or infectious insult that causes the endothelium to fail to pump aqueous humor from the cornea, leading to fluid accumulation, microcystic edema, and angle-closure glaucoma.
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limb-girdle muscular dystrophy
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Erb's muscular dystrophy; Leyden-Mbius muscular dy..
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Erb's muscular dystrophy; Leyden-Mbius muscular dystrophy; limb girdle muscular dystrophy
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A muscular dystrophy that is characterized by weak.. [+]
A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles.
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visual epilepsy
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epilepsy, visual
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n_a
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clubfoot
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Equinovarus deformity of foot (finding); congenita..
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Equinovarus deformity of foot (finding); congenital clubfoot; Congenital equinovarus; congenital talipes equinovarus
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A bone development disease where one or both are i.. [+]
A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities.
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cryptococcosis
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European cryptococcosis; Busse-Buschke's disease; ..
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European cryptococcosis; Busse-Buschke's disease; cryptococcal infection; cryptococcus neoformans infection; torula; torulosis
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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.
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alveolar echinococcosis
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echinococcus multilocularis infection; alveolococc..
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echinococcus multilocularis infection; alveolococcosis; Multilocular hydatid; small fox tapeworm
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An echinococcosis that is caused by the larvae of .. [+]
An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain.
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filarial elephantiasis
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Elephantiasis of eyelid (disorder); elephantiasis ..
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Elephantiasis of eyelid (disorder); elephantiasis of eyelid; Bancroftian elephantiasis (disorder); Bancroftian filarial chyluria; Lymphatic filariasis (disorder)
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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.
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viral labyrinthitis
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Epidemic vertigo (finding); Epidemic vertigo (diso..
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Epidemic vertigo (finding); Epidemic vertigo (disorder); Epidemic vertigo; Viral labyrinthitis (disorder)
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A labyrinthitis which involves viral infection of .. [+]
A labyrinthitis which involves viral infection of the inner ear through the upper airway or the blood stream. The symptoms may include hearing loss and ringing in the ears. If the virus reaches the vestibular system, dizziness, severe vertigo with nausea and vomiting, and imbalance can occur.
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Graves' disease
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exophthalmic goiter; Basedow's disease; Grave's di..
[+]
exophthalmic goiter; Basedow's disease; Grave's disease; Graves disease
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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.
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complex partial epilepsy
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epilepsy, psychomotor; Complex partial epileptic s..
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epilepsy, psychomotor; Complex partial epileptic seizure; Psychomotor epilepsy; psychomotor epilepsy; Psychomotor epilepsy (disorder)
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n_a
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intermittent explosive disorder
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explosive personality disorder
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An impulse control disorder that involves the epis.. [+]
An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness.
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olecranon bursitis
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Elbow bursitis (& olecranon); Bursitis of elbow; B..
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Elbow bursitis (& olecranon); Bursitis of elbow; Bursitis of elbow region; Capped elbow; Miner's elbow; Miners' elbow; Shoe boil
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n_a
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vestibular neuronitis
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Epidemic neurolabyrinthitis; Vestibular neuritis
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A inner ear infectious disease caused by a viral i.. [+]
A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent.
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shipyard eye
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Epidemic keratoconjunctivitis; EKC
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n_a
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hordeolum externum
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external stye
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A blepharitis that is characterized by an infectio.. [+]
A blepharitis that is characterized by an infection of the sebaceous glands of Zeis at the base of the eyelashes, or an infection of the apocrine sweat glands of Moll.
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cutaneous porphyria
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Erythropoietic porphyria (disorder)
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n_a
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tuberous sclerosis
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Epiloia; Bourneville's disease; cerebral sclerosis..
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Epiloia; Bourneville's disease; cerebral sclerosis; Tuberose sclerosis; Tuberous sclerosis; Tuberous sclerosis syndrome (disorder)
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n_a
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post-vaccinal encephalitis
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Encephalitis following immunization procedures; Po..
[+]
Encephalitis following immunization procedures; Postvaccinal encephalomyelitis
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n_a
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necrotizing ulcerative gingivitis
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early acute necrotising gingivitis; (Vincent's ang..
[+]
early acute necrotising gingivitis; (Vincent's angina) or (trench mouth); acute necrotising ulcerative gingivitis; acute necrotising ulcerative gingivitis [Ambiguous]; acute necrotising ulcerative gingivostomatitis; acute necrotising ulcerative gingivostomatitis [Ambiguous]; acute necrotizing ulcerative gingivitis; acute necrotizing ulcerative gingivostomatitis (disorder); acute ulceromembranous gingivitis; Angina - Vincents; ANUG; Trench mouth; Vincent angina; Vincent's Angina; Vincent's angina; Vincent's angina - pharyngitis (disorder); Vincent's angina NOS; Vincent's disease; Vincent's infection, any site
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n_a
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gastrointestinal tularemia
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Enteric tularemia; intestinal tularaemia
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A tularemia that results in formation of ulcerativ.. [+]
A tularemia that results in formation of ulcerative lesions located_in gastrointestinal tract. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom muscle aches, and has_symptom vomiting.
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skin epithelioid hemangioma
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epithelioid hemangioma of skin (disorder); Angioly..
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epithelioid hemangioma of skin (disorder); Angiolymphoid Cutaneous hyperplasia
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n_a
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sphenoid sinus squamous cell carcinoma
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Epidermoid carcinoma of the Sphenoidal sinus
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n_a
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type I Ehlers-Danlos syndrome
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Ehlers-Danlos syndrome, type 1 (disorder)
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n_a
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type III Ehlers-Danlos syndrome
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Ehlers-Danlos syndrome, type 3 (disorder)
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n_a
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autosomal recessive type IV Ehlers-Danlos syndrome
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Ehlers-Danlos syndrome, recessive type 4; Ehlers-D..
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Ehlers-Danlos syndrome, recessive type 4; Ehlers-Danlos syndrome, recessive type 4 (disorder)
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An Ehlers-Danlos syndrome that is characterized by.. [+]
An Ehlers-Danlos syndrome that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits.
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hypohidrotic ectodermal dysplasia
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Ectodermal Dysplasia 1, Anhydrotic; anhidrotic ect..
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Ectodermal Dysplasia 1, Anhydrotic; anhidrotic ectodermal dysplasia 3; Christ-Siemens-Touraine Syndrome; Hypohidrotic X-linked ectodermal dysplasia (disorder)
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A monogenic disease that is characterized by malfo.. [+]
A monogenic disease that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth).
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human monocytic ehrlichiosis
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Ehrlichiosis chafeensis
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An ehrlichiosis that results in infection located .. [+]
An ehrlichiosis that results in infection located in monocyte or located in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted by black-legged tick (Ixodes scapularis), transmitted by western black-legged tick (Ixodes pacificus) or transmitted by castor bean tick (Ixodes ricinus). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash.
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Rocky Mountain spotted fever
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Exanthematic typhus of Sao Paulo; So Paulo fever; ..
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Exanthematic typhus of Sao Paulo; So Paulo fever; Brazillian spotted; Choix; Fiebre maculosa; Fiebre manchada; Sao Paulo typhus; Tick typhus; Tobia fever
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A spotted fever that has_material_basis_in Rickett.. [+]
A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash.
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Lambert-Eaton myasthenic syndrome
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Eaton-Lambert syndrome; Lambert-Eaton syndrome; LE..
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Eaton-Lambert syndrome; Lambert-Eaton syndrome; LEMS
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A neuromuscular junction disease that is character.. [+]
A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal.
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paranasal sinus cancer
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Epidermoid carcinoma of the paranasal sinus; adeno..
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Epidermoid carcinoma of the paranasal sinus; adenoid cystic carcinoma of Accessory sinus; adenoid cystic carcinoma of paranasal sinus; Mucoepidermoid carcinoma of Accessory sinus; paranasal sinus adenocarcinoma; paranasal sinus adenoid cystic carcinoma; paranasal sinus mucoepidermoid carcinoma; paranasal sinus squamous cell carcinoma; squamous cell carcinoma of paranasal sinus
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A respiratory system cancer that is located_in the.. [+]
A respiratory system cancer that is located_in the paranasal sinuses.
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biliary tract benign neoplasm
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extrahepatic bile duct neoplasm; neoplasm of extra..
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extrahepatic bile duct neoplasm; neoplasm of extrahepatic bile ducts (disorder); tumor of the extrahepatic bile duct; neoplasm of extrahepatic bile ducts
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A hepatobiliary benign neoplasm located_in the bil.. [+]
A hepatobiliary benign neoplasm located_in the biliary tract.
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atrioventricular septal defect
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ECD; endocardial cushion defect; atrioventricular ..
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endocardial cushion defect; ECD; atrioventricular canal defect; AVCD; AVSD
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A congenital heart septal defect characterized by .. [+]
A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.
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Ohtahara syndrome
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EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15; Ear..
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EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15; Early Infantile Epileptic Encephalopathy with Burst-Suppression; Early Infantile Epileptic Encephalopathy
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A neonatoal period electroclinical syndrome that i.. [+]
A neonatoal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.
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social emotional agnosia
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expressive agnosia
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An agnosia that is a loss of the ability to percei.. [+]
An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction.
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parietal foramina
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enlarged parietal foramina; Caitlin marks; heredit..
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enlarged parietal foramina; Caitlin marks; hereditary cranium bifidum
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n_a
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Meier-Gorlin syndrome
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ear-patella-short stature syndrome
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An autosomal recessive disorder characterized by s.. [+]
An autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia and hypoplastic patellae.
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adenoid hypertrophy
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enlarged adenoids; adenoidal hypertrophy
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An upper respiratory tract disease characterized b.. [+]
An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has_symptom snoring, has_symptom hyponasality, has_symptom otitis media with effusion, has symptom mouth breathing.
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