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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
anorectal stricture
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Stenosis of rectum and anus NOS (disorder); Stenos..
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Stenosis of rectum and anus NOS (disorder); Stenosis of rectum and anus (disorder); Stenosis of rectum and anus; Anorectal stricture (disorder); Anorectal stricture
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n_a
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trench fever
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shin bone fever; His-Werner disease; Quintan fever..
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shin bone fever; His-Werner disease; Quintan fever; Trench fever; tibialgic fever; Wolhynian fever
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A primary bacterial infectious disease that result.. [+]
A primary bacterial infectious disease that results in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted by body lice (Pediculus humanus corporis). The infection has symptom relapsing fever, has symptom headache, has symptom shin pain, and has symptom soreness of the muscles of the legs and back.
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acquired thrombocytopenia
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secondary thrombocytopenia NOS (disorder); seconda..
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secondary thrombocytopenia NOS (disorder); secondary thrombocytopenia NOS; secondary thrombocytopenia; acquired thrombocytopenia (disorder)
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n_a
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miliaria rubra
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Sudamina; Miliaria crystallina; Prickly heat - mil..
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Sudamina; Miliaria crystallina; Prickly heat - miliaria; prickly heat
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A miliaria that is characterized by erythematous p.. [+]
A miliaria that is characterized by erythematous papules resulting in leakage of sweat into the deeper, subcorneal layers of the epidermis provoking a local inflammatory reaction.
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buphthalmos
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simple buphthalmos; primary congenital glaucoma 3A..
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simple buphthalmos; primary congenital glaucoma 3A
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A hydrophthalmos characterized by early onset glau.. [+]
A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss.
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Brill-Zinsser disease
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Sporadic typhus; Brill's disease; Brill-Zinsser di..
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Sporadic typhus; Brill's disease; Brill-Zinsser disease (disorder); Latent typhus; Recrudescent typhus; Brill Zinsser disease
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An epidemic typhus that is a mild form of the dise.. [+]
An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses.
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typhus
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Shop typhus; Ship fever; Classical typhus (fever); ..
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Ship fever; Shop typhus; Classical typhus (fever); endemic flea-borne typhus; Endemic Typhus fever; Epidemic (louse-borne) typhus; Exanthematic Typhus fever; Exanthematous typhus; Flea-borne rickettsiosis; Louse-borne [epidemic] typhus; Louse-borne typhus; Murine typhus; Rat flea typhus; Typhus fever; European typhus; Famine fever; Mexican typhus; Urban typhus; Classical typhus; epidemic louse-borne typhus; Flea typhus; Jail fever; Murine [endemic] typhus; Prison fever; Typhus exanthematique; Epidemic louse-borne typhus fever due to Rickettsia prowazekii; Flea-borne typhus; Hospital fever; Louse-borne rickettsiosis; Moscow typhus; Petechial fever
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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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cercarial dermatitis
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Sea bather's eruption; Sea bather's eruption (diso..
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Sea bather's eruption; Sea bather's eruption (disorder); Cutaneous schistosomiasis
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A schistosomiasis that is a short-term, cutaneous .. [+]
A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has symptom skin reddening, has symptom skin itching, in the water or immediately after emerging and has symptom itchy, raised papules, occur within hours of infection.
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Phlebotomus fever
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Sandfly-borne phleboviral disease; Sandfly-borne b..
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Sandfly-borne phleboviral disease; Sandfly-borne bunyavirus fever; Sandfly fever; Sandfly-borne bunyavirus fever (disorder); Sandfly-borne arboviral fever; pappataci fever
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A viral infectious disease that results in infecti.. [+]
A viral infectious disease that results in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted by Phlebotomus papatasi sandfly. The infection has symptom fever, has symptom severe frontal headaches, has symptom muscle ache, has symptom joint aches, has symptom flushing of the face, and has symptom tachycardia.
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lens subluxation
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Subluxation of lens
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n_a
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adult respiratory distress syndrome
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Shock lung; ARDS; Non-cardiogenic pulmonary edema; ..
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Shock lung; ARDS; Non-cardiogenic pulmonary edema; adult RDS; acute respiratory distress syndrome
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A respiratory failure that results from diffuse in.. [+]
A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.
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fissured tongue
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scrotal tongue; Congenital fissure of tongue; Cong..
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scrotal tongue; Congenital fissure of tongue; Congenital plicated tongue; geographic tongue and fissured tongue; Plicated tongue; lingua plicata; Furrowed tongue; Tongue, Fissured; Fissure of tongue; Fissure of tongue, congenital
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n_a
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laryngostenosis
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Stenosis of larynx
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n_a
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phlyctenulosis
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Strumous ophthalmia; Phlyctenular keratoconjunctiv..
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Strumous ophthalmia; Phlyctenular keratoconjunctivitis
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n_a
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polycystic ovary syndrome
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Stein-Leventhal synd.; Stein-Leventhal syndrome; P..
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Stein-Leventhal syndrome; Stein-Leventhal synd.; PCOS; Polycystic Ovarian disease; Polycystic ovaries (disorder); Polycystic ovary syndrome; Multicystic ovaries; Polycystic ovaries; polycystic ovary
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An ovarian dysfunction that is characterized by hy.. [+]
An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight.
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1 articles
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accommodative spasm
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Spasm of accommodation
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n_a
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myotonic dystrophy type 1
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Steinert disease; congenital myotonic dystrophy; D..
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Steinert disease; congenital myotonic dystrophy; Dystrophia myotonica; myotonic dystrophy of Steinert
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A myotonic disease that is characterized by progre.. [+]
A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.
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bladder sarcoma
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sarcoma of bladder (disorder); sarcoma of bladder; ..
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sarcoma of bladder; sarcoma of bladder (disorder); sarcoma of the urinary bladder
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A sarcoma and malignant neoplasm of urinary bladde.. [+]
A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder.
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bladder dome cancer
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Superior Surface of bladder; malignant neoplasm of..
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Superior Surface of bladder; malignant neoplasm of apex of urinary bladder; malignant tumor of vault of bladder (disorder); malignant neoplasm of dome of urinary bladder; malignant tumor of vault of bladder
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n_a
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myopia
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short-sightedness; near vision; near-sightedness
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A refractive error characterized by the inability .. [+]
A refractive error characterized by the inability to see farther objects clearly.
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1 articles
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penis sarcoma
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sarcoma of penis
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A sarcoma and malignant neoplasm of penis that is .. [+]
A sarcoma and malignant neoplasm of penis that is located_in the penis.
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Creutzfeldt-Jakob disease
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Subacute spongiform encephalopathy; CJD (Creutzfel..
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Subacute spongiform encephalopathy; CJD (Creutzfeldt Jakob disease); Creutzfeldt Jacob syndrome; Creutzfeldt Jakob disease; Jakob-Creutzfeldt disease; Transmissible virus dementia (disorder); CJD; Transmissible virus dementia; Creutzfeldt-Jacob disease
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n_a
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postmenopausal atrophic vaginitis
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Senile vaginitis; atrophic vaginitis
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A vaginitis that occurs in postmenopausal women an.. [+]
A vaginitis that occurs in postmenopausal women and is characterized by vaginal atrophy secondary to estrogen deficiency.
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morbid obesity
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Severe obesity
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n_a
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trachea sarcoma
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sarcoma of the trachea
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A sarcoma and malignant tumor of trachea that is l.. [+]
A sarcoma and malignant tumor of trachea that is located_in the trachea.
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trachea squamous cell carcinoma
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squamous cell carcinoma of trachea (disorder); squ..
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squamous cell carcinoma of trachea (disorder); squamous cell carcinoma of trachea; Tracheal Epidermoid carcinoma
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A squamous cell carcinoma that is located_in the t.. [+]
A squamous cell carcinoma that is located_in the trachea.
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factor VIII deficiency
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Subhemophilia; Congenital factor VIII disorder; cl..
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Subhemophilia; Congenital factor VIII disorder; classic hemophilia A; Hemophilia A
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A blood coagulation disease that has_material_basi.. [+]
A blood coagulation disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.
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alveolar echinococcosis
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small fox tapeworm; alveolococcosis; echinococcus ..
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small fox tapeworm; alveolococcosis; echinococcus multilocularis infection; Multilocular hydatid
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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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pseudoretinitis pigmentosa
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secondary pigmentary retinal degeneration; seconda..
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secondary pigmentary retinal degeneration; secondary pigmentary degeneration of retina
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n_a
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common variable immunodeficiency
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sporadic hypogammaglobulinemia; acquired agammaglo..
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sporadic hypogammaglobulinemia; acquired agammaglobulinemia; acquired hypogammaglobulinemia; CVID; common variable agammaglobulinemia
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An agammaglobulinemia that is characterized by low.. [+]
An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that esults in insufficient production of antibodies needed to respond to exposure of pathogens.
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Lewy body dementia
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Senile dementia of the Lewy body type; Senile deme..
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Senile dementia of the Lewy body type; Senile dementia of the Lewy body type (disorder); Diffuse Lewy body disease (disorder); Diffuse Lewy body disease; Lewy body disease; Dementia with Lewy bodies
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A dementia that is characterized by the developmen.. [+]
A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies.
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anal margin squamous cell carcinoma
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squamous cell carcinoma of anal margin (disorder); ..
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squamous cell carcinoma of anal margin (disorder); squamous cell carcinoma of anal margin; Perianal skin squamous cell carcinoma
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n_a
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male genital organ stricture
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Stricture of male genital organs
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n_a
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varicocele
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Scrotal varices
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n_a
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juvenile spinal muscular atrophy
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Spinal Muscular Atrophy Type 3; spinal muscular at..
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Spinal Muscular Atrophy Type 3; spinal muscular atrophy of childhood; Spinal muscular atrophy, familial; SMA3; Kugelberg-Welander disease; Type III Spinal Muscular Atrophy
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A childhood spinal muscular atrophy that has age o.. [+]
A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that has_material_basis_in homozygous or compound heterozygous mutation in the SMN1 gene on chromosome 5q13.
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bagassosis
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sugar cane worker pneumonitis
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An extrinsic allergic alveolitis that is an indust.. [+]
An extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic actinomycetes.
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Duane retraction syndrome
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Stilling-Turk-Duane syndrome; Duane's syndrome
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n_a
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olecranon bursitis
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Shoe boil; Bursitis of elbow; Bursitis of elbow re..
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Shoe boil; Bursitis of elbow; Bursitis of elbow region; Capped elbow; Elbow bursitis (& olecranon); Miner's elbow; Miners' elbow; Elbow bursitis
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n_a
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velocardiofacial syndrome
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Shprintzen syndrome; 22q11 Deletion Syndrome; dele..
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Shprintzen syndrome; 22q11 Deletion Syndrome; deletion 22q11.2 syndrome; VCF-Velocardiofacial syndrome
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A chromosomal deletion disease that has_material_b.. [+]
A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations.
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acute leukemia
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Stem cell Leukemia; Stem cell leukaemia
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A lymphoid leukemia that occurs when a hematopoiet.. [+]
A lymphoid leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity producing large numbers of white blood cells to be produced and enter the blood stream.
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2 articles
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binocular vision disease
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simultaneous visual perception without fusion
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n_a
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mucopolysaccharidosis III
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Sanfilippo syndrome B; Sanfilippo's syndrome; Sanf..
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Sanfilippo's syndrome; Sanfilippo syndrome B; Sanfilippo syndrome A; heparan sulfate sulfatase deficiency; MPS IIIA - Sanfilippo syndrome A; MPS IIIC - Sanfilippo syndrome C; MPS IIID - Sanfilippo syndrome D; mucopolysaccharidosis type IIIA; mucopolysaccharidosis type IIIB; Mucopolysaccharidosis, MPS-III-B; N-acetyl-alpha-D-glucosaminidase deficiency; naglu deficiency; MPS IIIB - Sanfilippo syndrome B; N-sulphoglucosamine sulphohydrolase deficiency; Mucopolysaccharidosis, MPS-III
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A mucopolysaccharidosis characterized by a deficie.. [+]
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.
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mucocele of salivary gland
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Salivary Cyst; Salivary gland mucocele; Mucous ret..
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Salivary gland mucocele; Salivary Cyst; Mucous retention cyst of salivary gland; Ranula
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n_a
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hereditary spherocytosis
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spherocytic anemia; Congenital spherocytic hemolyt..
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spherocytic anemia; Congenital spherocytic hemolytic anemia; Minkowski Chauffard syndrome
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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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carotid stenosis
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Stenosis, carotid artery; Carotid artery stenosis ..
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Stenosis, carotid artery; Carotid artery stenosis (disorder); Carotid artery stenosis
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n_a
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tick-borne relapsing fever
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soft tick relapsing fever; Relapsing fever, tick-b..
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soft tick relapsing fever; Relapsing fever, tick-borne; Tick-borne relapsing fever (disorder); Tick-borne relapsing fever NOS (disorder); Tick-borne relapsing fever
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A relapsing fever that is characterized by relapsi.. [+]
A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia hermsii, has_material_basis_in Borrelia parkeri or has_material_basis_in Borrelia duttoni, which are transmitted_by soft ticks (Ornithodoros parkeri and Ornithodoros hermsii). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy.
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acute sphenoidal sinusitis
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Sphenoidal sinus -acute
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A sphenoid sinusitis which lasts for less than 4 w.. [+]
A sphenoid sinusitis which lasts for less than 4 weeks.
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hemangioma of subcutaneous tissue
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Subcutaneous hemangioma; Subcutaneous haemangioma; ..
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Subcutaneous haemangioma; Subcutaneous hemangioma; Subcutaneous hemangioma (disorder); Angioma of the Subcutaneous tissue; hemangioma of subcutaneous tissue (disorder)
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n_a
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Lown-Ganong-Levine syndrome
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syndrome of short P-R interval, normal QRS complex..
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syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias; atrial tachyarrhythmia with short PR interval
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A syndrome that involves pre-excitation of the ven.. [+]
A syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles.
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Werdnig-Hoffmann disease
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SMA1; Spinal muscular atrophy 1; HMN (Hereditary m..
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Spinal muscular atrophy 1; SMA1; HMN (Hereditary motor Neuropathy) Proximal type I; infantile muscular atrophy; Werdnig-Hoffman disease; hereditary motor neuropathy proximal type I; progressive muscular atrophy of infancy
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A childhood spinal muscular atrophy that is a seve.. [+]
A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted and that has_material_basis_in a mutation or deletion in the telomeric copy of the SMN gene, known as SMN1, on chromosome 5q13.
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