| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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hereditary spherocytosis
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Congenital spherocytic hemolytic anemia; Minkowski..
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Congenital spherocytic hemolytic anemia; Minkowski Chauffard syndrome; spherocytic anemia
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A congenital hemolytic anemia characterized by the.. [+]A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape.
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lobomycosis
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Cutaneous lobomycosis; Cutaneous blastomycosis; Cu..
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Cutaneous blastomycosis; Cutaneous lobomycosis; Cutaneous lobomycosis (disorder); infection by Loboa loboi
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A dermatomycosis that results in infection located.. [+]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.
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persistent fetal circulation syndrome
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congenital alveolar capillary dysplasia with misal..
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congenital alveolar capillary dysplasia with misalignment of pulmonary veins; Fetal circulation; Persistent fetal circulation; Persistent fetal circulation (disorder); Persistent fetal circulation syndrome (disorder); Persistent pulmonary hypertension of the newborn (disorder); persistent pulmonary hypertension of the newborn; Persistent fetal circulation syndrome; Persistent foetal circulation; Persistent foetal circulation syndrome; persistent foetal circulation syndrome; Persistent pulmonary hypertension of the newborn
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n_a
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tinea unguium
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cellulitis and abscess of upper arm and forearm; c..
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cellulitis and abscess of upper arm and forearm; cellulitis and abscess of finger and toe; cellulitis and abscess of face; cellulitis and abscess of buttock; cellulitis and abscess of trunk; cellulitis and abscess of gluteal region; cellulitis and abscess of finger; cellulitis and abscess; dermatophytic onychomycosis; Dermatophytosis of nail; Tinea unguium; Dermatophytic onychia; Onychomycosis due to dermatophyte
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A dermatophytosis that results_in fungal infection.. [+]A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. Sometimes, white islands are seen on the external nail plates. These gradually coalesce until the entire nail plate is involved.
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esophageal candidiasis
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Candidiasis of the esophagus; Candidiasis of the e..
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Candidiasis of the esophagus; Candidiasis of the esophagus (disorder); Candidal esophagitis; Candida Esophagitis; esophageal thrush; esophageal moniliasis
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A candidiasis that involves fungal infection of th.. [+]A candidiasis that involves fungal infection of the esophagus by Candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain.
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diverticulitis of colon
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colonic diverticular disease
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A colonic disease characterized by the formation a.. [+]A colonic disease characterized by the formation and inflammation of diverticula within the colon wall.
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hereditary coproporphyria
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Coproporphyrinogen oxidase deficiency; Hereditary ..
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Coproporphyrinogen oxidase deficiency; Hereditary coproporphyria; Hereditary coproporphyria (disorder); hereditary coproporphyria porphyria
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n_a
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Mycoplasma pneumoniae pneumonia
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cold agglutinin positive pneumonia; Mycoplasmal pn..
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cold agglutinin positive pneumonia; Mycoplasmal pneumonia; Pneumonia due to Eaton's agent; Pneumonia due to Mycoplasma pneumoniae; Pneumonia due to Mycoplasma pneumoniae (disorder); Mycoplasma pneumonia
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A bacterial pneumonia that is caused by the bacter.. [+]A bacterial pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat.
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diabetic cataract
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Cataract - diabetic
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A cataract that is characterized by loss of lens t.. [+]A cataract that is characterized by loss of lens transparency secondary to hyperglycemia related to diabetes mellitus.
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1 articles
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Ehlers-Danlos syndrome
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Cutis hyperelastica; elastic skin
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A collagen disease that is characterized by extrem.. [+]A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.
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2 articles
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24 matches
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scrub typhus
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Chigger-borne typhus; Chigger-borne rickettsiosis; ..
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Chigger-borne rickettsiosis; Chigger-borne typhus; Mite-borne typhus; Scrub mite-borne typhus; Tsutsugamushi; Tsutsugamushi disease; Typhus fever due to Rickettsia tsutsugamushi; Kedani fever; Tropical typhus; Mite-borne rickettsiosis; Japanese river fever; Scrub (mite-borne) typhus; Tsutsugamushi fever
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A typhus that has_material_basis_in Orientia tsuts.. [+]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.
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labia majora carcinoma
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carcinoma of labia majora; Labia Majora cancer
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A vulva carcinoma that is located_in the labia maj.. [+]A vulva carcinoma that is located_in the labia majora.
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skin sarcoidosis
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Cutaneous sarcoidosis; cutaneous sarcoidosis; Cuta..
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cutaneous sarcoidosis; Cutaneous sarcoidosis; Cutaneous sarcoidosis (disorder); Cutaneous Sarcoidosis; Cutaneous sarcoid
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n_a
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neurosarcoidosis
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Cerebral sarcoidosis; cerebral sarcoidosis; Cerebr..
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cerebral sarcoidosis; Cerebral sarcoidosis; Cerebral sarcoidosis (disorder); Cerebral Sarcoidosis
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A sarcoidosis that is characterized by involvement.. [+]A sarcoidosis that is characterized by involvement of the nervous symptom with cranial nerve palsy, diffuse meningeal disease, acute polyneuropathy, myelitis, or hypothalamic pituitary axis malformation, develops_from a type IV hypersensitivity reaction with noncaseating granulomas involving the nervous system.
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supraglottis cancer
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Ca larynx - supraglottis; Ca larynx - supraglottis..
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Ca larynx - supraglottis; Ca larynx - supraglottis (disorder); malignant neoplasm of extrinsic larynx; malignant neoplasm of supraglottis; malignant Supraglottic tumor; supraglottis; malignant tumor of supraglottis (disorder); malignant tumor of supraglottis
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n_a
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active cochleovestibular Meniere's disease
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Cochleovestibular active Mnire's disease; Cochleov..
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Cochleovestibular active Mnire's disease; Cochleovestibular active Mnire's disease (disorder); active cochleovestibular Meniere disease; active Meniere's disease, cochleovestibular
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n_a
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active cochlear Meniere's disease
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Cochlear active Mnire's disease; Cochlear active M..
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Cochlear active Mnire's disease; Cochlear active Mnire's disease (disorder); active Meniere's disease, cochlear; active cochlear Meniere disease
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n_a
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tuberous sclerosis
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cerebral sclerosis; Bourneville's disease; Tuberos..
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cerebral sclerosis; Bourneville's disease; Tuberose sclerosis; Tuberous sclerosis; Tuberous sclerosis syndrome (disorder); Epiloia; Tuberous sclerosis syndrome
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A syndrome that is characterized by the growth of .. [+]A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.
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4 articles
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angle-closure glaucoma
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Closed angle glaucoma; ACG - Angle-closure glaucom..
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Closed angle glaucoma; ACG - Angle-closure glaucoma; Angle-closure glaucoma (disorder); primary open-angle glaucoma with narrow angles; Angle Closure Glaucoma; Narrow cleft glaucoma; Angle-closure glaucoma
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A glaucoma characterized by closure of the anterio.. [+]A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.
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obstructive jaundice
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Cholestatic jaundice syndrome; Cholestatic jaundic..
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Cholestatic jaundice syndrome; Cholestatic jaundice syndrome (disorder); Cholestatic Jaundice; Obstructive hyperbilirubinemia; Obstructive hyperbilirubinemia (disorder); Obstructive jaundice NOS (disorder); Obstructive jaundice NOS; Obstructive jaundice
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A cholestasis characterized by yellowish pigmentat.. [+]A cholestasis characterized by yellowish pigmentation of the skin and sclera due to high bilirubin levels resulting from biliary tract obstruction.
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biliary atresia
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Congenital biliary atresia; Congenital biliary atr..
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Congenital biliary atresia; Congenital biliary atresia (disorder); Atresia of bile duct; biliary atresia, congenital
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A cholestasis characterized by blockage of the duc.. [+]A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.
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prostate calculus
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calculus of prostate; Prostatic stone; Stone of pr..
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calculus of prostate; Prostatic stone; Stone of prostate; Prostatic lithiasis
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n_a
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anodontia
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Complete absence of teeth; Developmental absence o..
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Complete absence of teeth; Developmental absence of tooth; Total anodontia of permanent and deciduous teeth
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A tooth disease that is characterized by complete .. [+]A tooth disease that is characterized by complete absence of permanent teeth.
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nutmeg liver
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chronic passive congestion of liver; chronic passi..
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chronic passive congestion of liver; chronic passive congestion of liver (disorder)
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n_a
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Pthirus pubis infestation
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crabs; Infestation by Phthirus pubis (disorder); P..
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crabs; Infestation by Phthirus pubis (disorder); Pediculosis Pubis; Phthiriasis pubis; Phthirus pubis; Phthirus/pediculus pubis - pubic lice - crabs (& infestation); Phthirus pubis [pubic louse]; Infestation by Phthirus pubis; Pediculus pubis; Phthirus/pediculus pubis - pubic lice - crabs
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A lice infestation that involves parasitic infesta.. [+]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.
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inclusion conjunctivitis
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Chlamydial conjunctivitis; adult inclusion conjunc..
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Chlamydial conjunctivitis; adult inclusion conjunctivitis; inclusion blenorrhea; Inclusion blennorrhoea; Paratrachoma
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A commensal bacterial infectious disease that resu.. [+]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.
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lymphogranuloma venereum
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Climatic or tropical bubo; Durand-Nicolas-Favre di..
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Climatic or tropical bubo; Durand-Nicolas-Favre disease; Lymphogranuloma inguinale; Strumous bubo; Poradenitis inguinale
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A commensal bacterial infectious disease that resu.. [+]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.
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focal labyrinthitis
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Circumscribed labyrinthitis; Circumscribed labyrin..
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Circumscribed labyrinthitis; Circumscribed labyrinthitis (disorder)
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A labyrinthitis which is an infectious inflammator.. [+]A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma.
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Tietze's syndrome
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Costochondritis; Costalchondritis; Costochondral j..
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Costalchondritis; Costochondritis; Costochondral junction syndrome; Tietze's disease; Slipping rib syndrome; Tietze syndrome
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n_a
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aorta atresia
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Congenital atresia and stenosis of aorta; Atresia ..
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Congenital atresia and stenosis of aorta; Atresia and stenosis of aorta (disorder); Atresia and stenosis of aorta
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An aortic disease that is characterized by an abse.. [+]An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta.
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root caries
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Cementum caries; Root caries; Dental caries of roo..
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Cementum caries; Root caries; Dental caries of root surface
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n_a
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boutonneuse fever
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Conor and Bruch's disease; african tick typhus; Af..
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Conor and Bruch's disease; african tick typhus; African tick typhus (disorder); Boutonneuse disease; Kenya fever; kenya tick typhus; Mediterranean spotted fever; Mediterranean tick fever; South African tick-bite fever (disorder); African tick typhus; marseilles fever; South African tick-bite fever; Rickettsia conorii spotted fever; Kenyan tick typhus
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A spotted fever that has_material_basis_in Rickett.. [+]A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities.
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multiple symmetric lipomatosis
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cervical Symmetrical Lipomatosis; LIPODYSTROPHY, C..
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cervical Symmetrical Lipomatosis; LIPODYSTROPHY, CEPHALOTHORACIC; LIPOMATOSIS, FAMILIAL BENIGN CERVICAL; Multiple symmetric lipomatosis; Launois-Bensaude's lipomatosis; multiple symmetrical lipomatosis; Madelung's neck
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n_a
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ureterolithiasis
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calculus of ureter; Ureteric calculus; Ureteric st..
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calculus of ureter; Ureteric calculus; Ureteric stone
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An ureteral disease this is characterized by the f.. [+]An ureteral disease this is characterized by the formation of stoney concentrations in the ureter.
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rheumatic congestive heart failure
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Congestive rheumatic heart failure; Congestive rhe..
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Congestive rheumatic heart failure; Congestive rheumatic heart failure (disorder); Rheumatic heart failure; Rheumatic heart failure (congestive)
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n_a
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hypophosphatasia
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childhood hypophosphatasia; childhood hypophosphat..
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childhood hypophosphatasia; childhood hypophosphatasia (disorder); deficiency of alkaline phosphatase (disorder); deficiency of alkaline phosphatase (disorder) [Ambiguous]; hypophospatasia, childhood; deficiency of alkaline phosphatase
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A syndrome characterized by disruption of minerali.. [+]A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in the ALPL gene on chromosome 1p36.12.
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tracheal calcification
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Calcification of trachea
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n_a
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Down syndrome
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Complete trisomy 21 syndrome; Complete trisomy 21 ..
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Complete trisomy 21 syndrome; Complete trisomy 21 syndrome (disorder); Down's syndrome; G Trisomy; trisomy 21 syndrome; Downs syndrome; Down's syndrome - trisomy 21
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A chromosomal disease that is characterized by fla.. [+]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.
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7 articles
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oral candidiasis
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Candidiasis of mouth; Oral moniliasis; thrush; Thr..
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Candidiasis of mouth; Oral moniliasis; thrush; Thrush, oral
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A candidiasis that involves fungal infection of th.. [+]A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes.
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neurogenic arthropathy
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Charcot's joint; Charcot's arthropathy; Neuropathi..
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Charcot's arthropathy; Charcot's joint; Neuropathic arthropathy (& Charcot's); Neuropathic arthropathy; Arthropathy associated with neurological disorder
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n_a
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Noonan syndrome with multiple lentigines
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Capute-Rimoin-Konigsmark-Esterly-Richardson syndro..
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Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome; Cardiocutaneous syndrome; Generalized lentiginosis (disorder); Gorlin syndrome II; Lentiginosis profusa syndrome; LEOPARD syndrome; Moynahan syndrome; Multiple lentigines syndrome (disorder); Noonan syndrome with multiple lentigines; Generalized lentiginosis; Progressive cardiomyopathic lentiginosis; Multiple lentigines syndrome
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A RASopathy that is characterized by autosomal dom.. [+]A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature.
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1 articles
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systemic primary carnitine deficiency disease
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carnitine uptake defect; carnitine transporter def..
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carnitine uptake defect; carnitine transporter deficiency; deficiency of plasma-membrane carnitine transporter; renal carnitine transport defect (disorder); renal carnitine transport defect; primary carnitine deficiency
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An amino acid metabolic disorder that involves def.. [+]An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.
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norwegian scabies
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Crusted scabies
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A scabies that involves infestation of human itch .. [+]A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching.
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Legg-Calve-Perthes disease
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Coxa plana; Calve - Perthes' disease; Juvenile ost..
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Calve - Perthes' disease; Coxa plana; Juvenile osteochond-hip/pelvis; juvenile osteochondrosis of hip and pelvis; Juvenile osteochondrosis of hip and/or pelvis (disorder); Legg-Calve-Perthes symptom; osteochondrosis of Legg-Calve-Perthes; Perthe's disease; Perthes disease; Juvenile osteochondrosis of hip and/or pelvis; pseudocoxalgia; Pseudocoxalgia
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An osteochondrosis that results_in death and fract.. [+]An osteochondrosis that results_in death and fracture located_in hip joint.
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Wolman disease
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complete lysosomal acid lipase deficiency; complet..
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complete lysosomal acid lipase deficiency; complete LIPA deficiency; complete LAL deficiency; complete cholesterol ester hydrolase deficiency; Acid lipase deficiency; Wolman xanthomatosis; Xanthomatosis, familial; Wolman's disease; Wolman's or triglyceride storage type III disease; Acid esterase deficiency; acute infantile lysosomal acid lipase deficiency
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A lysosomal acid lipase deficiency characterized b.. [+]A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. Death usually occurs within the first year of life.
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WAGR syndrome
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chromosome 11p13 deletion syndrome; Wilms tumor-An..
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chromosome 11p13 deletion syndrome; Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome; 11p partial monosomy syndrome (disorder); 11p partial monosomy syndrome
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A chromosomal deletion syndrome that is a nephrobl.. [+]A chromosomal deletion syndrome 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.
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disease of cellular proliferation
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cell process disease; neoplasm
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A disease that is characterized by abnormally rapi.. [+]A disease that is characterized by abnormally rapid cell division.
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148 articles
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98 matches
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thrombocytopenia-absent radius syndrome
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chromosome 1q21.1 deletion syndrome; Radial aplasi..
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chromosome 1q21.1 deletion syndrome; Radial aplasia-thrombocytopenia syndrome (disorder); Thrombocytopenia with absent radii (TAR) syndrome; Radial aplasia-thrombocytopenia syndrome
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A chromosomal deletion syndrome that is characteri.. [+]A chromosomal deletion syndrome that is characterized by absence of the radius bone and platelet deficiency and bilateral absence of the radii with the presence of both thumbs and generally transient thrombocytopenia (less than 50 platelets/nL) and that has_material_basis_in compound heterozygosity for a rare null mutation involving the RBM8A gene on chromosome 1q12 on 1 allele and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms in RBM8A on the other.
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Sotos syndrome
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cerebral gigantism
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A syndrome that occurs rarely and is characterized.. [+]A syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life.
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1 articles
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hypohidrotic ectodermal dysplasia
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Christ-Siemens-Touraine Syndrome; Ectodermal Dyspl..
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Christ-Siemens-Touraine Syndrome; Ectodermal Dysplasia 1, Anhydrotic; anhidrotic ectodermal dysplasia 3; Hypohidrotic X-linked ectodermal dysplasia (disorder); Hypohidrotic X-linked ectodermal dysplasia
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An ectodermal dysplasia that is characterized by m.. [+]An ectodermal dysplasia 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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