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Disease	Synonyms	Description
adult-onset Still's disease	adult-onset Still disease; adult onset Still's dis.. [+] adult-onset Still disease; adult onset Still's disease [-]	An arthritis that is a rare from of inflammatory a..[+] An arthritis that is a rare from of inflammatory arthritis characterized by fevers, rash, and joint pain. [-]
ascending cholangitis	Ascending cholangitis (disorder); Ascending Cholan.. [+] Ascending cholangitis (disorder); Ascending Cholangitis [-]	n_a
acute cholangitis	acute cholangitis (disorder); acute Cholangitis	n_a
atrophic vulva	Atrophy of vulva	A vulvar disease that is characterized by the pres..[+] A vulvar disease that is characterized by the presence of atrophy and associated with decreased estrogenization. [-]
acute thyroiditis	acute thyroiditis NOS (disorder); acute thyroiditi.. [+] acute thyroiditis NOS (disorder); acute thyroiditis (disorder) [-]	n_a
abnormality of glucagon secretion	Glucagon secretion abnormality	n_a
Argyll Robertson pupil	Atypical Argyll-Robertson pupil; Argyll Robertson .. [+] Atypical Argyll-Robertson pupil; Argyll Robertson pupil, atypical; Argyll Robertson phenomenon or pupil, nonsyphilitic [-]	An abnormal pupillary function characterized by a ..[+] An abnormal pupillary function characterized by a small pupil, the absence of a pupillary light reflex and the retention of a normal pupillary near response. [-]
anaerobic meningitis		n_a
acrodysostosis		A dysostosis that results_in shortening of interph..[+] A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency. [-]
Axenfeld-Rieger syndrome	Anomaly, Rieger's; Axenfeld syndrome; Hagedoom syn.. [+] Axenfeld syndrome; Anomaly, Rieger's; Hagedoom syndrome; RGS - Rieger syndrome; Rieger's anomaly [-]	An autosomal dominant disease characterized by abn..[+] An autosomal dominant disease characterized by abnormalities of the front part of the eye, the anterior segment. [-]
autosomal dominant microcephaly		n_a
argininosuccinic aciduria	arginosuccinase deficiency; argininosuccinic acide.. [+] arginosuccinase deficiency; argininosuccinic acidemia; Argininosuccinate lyase deficiency (disorder); deficiency of argininosuccinate lyase (disorder) [-]	An amino acid metabolic disorder that involves the..[+] An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine. [-]
autosomal dominant type IV Ehlers-Danlos syndrome		n_a
autosomal recessive type IV Ehlers-Danlos syndrome	Ehlers-Danlos syndrome, recessive type 4 (disorder.. [+] Ehlers-Danlos syndrome, recessive type 4 (disorder); Ehlers-Danlos syndrome, recessive type 4 [-]	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. [-]
aspirin allergy	ASA allergy; acetylsalicylic acid allergy	A drug allergy that has_allergic_trigger acetylsal..[+] A drug allergy that has_allergic_trigger acetylsalicylic acid. [-]
amodiaquine allergy	Camoquin allergy; Flavoquine allergy	A drug allergy that has_allergic_trigger amodiaqui..[+] A drug allergy that has_allergic_trigger amodiaquine. [-]
aztreonam allergy	Azactam allergy; Primbactam allergy	A beta-lactam allergy that has_allergic_trigger az..[+] A beta-lactam allergy that has_allergic_trigger aztreonam. [-]
autoimmune peripheral neuropathy		An autoimmune disease of peripheral nervous system..[+] An autoimmune disease of peripheral nervous system that results in peripheral neuropathy. [-]
autoimmune pancreatitis		An autoimmune disease of endocrine system that is ..[+] An autoimmune disease of endocrine system that is located_in the pancreas. [-]
African tick-bite fever	Rickettsia africae spotted fever; south african ti.. [+] Rickettsia africae spotted fever; south african tick-bite fever [-]	A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash. [-]
Astrakhan spotted fever		A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. [-]
adiaspiromycosis		A primary systemic mycosis that is a fungal infect..[+] A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens. [-]
acute diarrhea		A diarrhea that is of rapid onset and course chara..[+] A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. [-]
asymptomatic dengue		A dengue disease that results_in infection, has_ma..[+] A dengue 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 no manifestations of symptoms. [-]
adenoiditis	chronic adenoiditis	An upper respiratory tract disease which involves ..[+] An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has_symptom pain, has_symptom redness, has_symptom swelling, and has_symptom difficulty swallowing. [-]
aspiration pneumonia		A bacterial pneumonia which is an acute pulmonary ..[+] A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough. [-]
autoimmune polyendocrine syndrome type 1	Autoimmune Polyglandular Syndrome I; autoimmune po.. [+] Autoimmune Polyglandular Syndrome I; autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy; Whitaker syndrom [-]	An autoimmune polyendocrine syndrome that is inher..[+] An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. [-]
autoimmune polyendocrine syndrome type 2	Schmidt syndrome	An autoimmune polyendocrine syndrome that is chara..[+] An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene. [-]
Argentine hemorrhagic fever		A viral infectious disease that is a hemorrhagic f..[+] A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations. [-]
acanthocephaliasis		A parasitic helminthiasis infectious disease that ..[+] A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools. [-]
angiostrongyliasis		A parasitic helminthiasis infectious disease that ..[+] A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis. [-]
aniseikonia		n_a
Alkhurma hemorrhagic fever		A viral infectious disease that is a hemorrhagic f..[+] A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus, which is transmitted_by Ornithodoros savignyi tick bite, transmitted_by ingestion of unpasteurized camel milk, or transmitted_by entry via skin wound. The infection has_symptom headache, has_symptom joint pain, has_symptom muscle pain, has_symptom vomiting, has_symptom thrombocytopenia, and has_symptom hemorrhagic fever. [-]
arrhythmogenic right ventricular cardiomyopathy	ARVC; ARVC cardiomyopathy; ARVD; arrhythmogenic ri.. [+] ARVD; ARVC cardiomyopathy; ARVC; arrhythmogenic right ventricular dysplasia/cardiomyopathy; arrhythmogenic right ventricular dysplasia [-]	An intrinsic cardiomyopathy that is characterized ..[+] An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle. [-]
Asperger syndrome		An autism spectrum disorder that is characterized ..[+] An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development. [-]
Andersen-Tawil syndrome	Andersen syndrome; ATS; ANDERSEN CARDIODYSRHYTHMIC.. [+] ATS; Andersen syndrome; ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Long QT syndrome 7; LQT7; Potassium-Sensitive Cardiodysrhythmic Type [-]	A long QT syndrome that has_material_basis_in auto..[+] A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly. [-]
aspartylglucosaminuria	aspartylglycosaminuria; ASPARTYLGLUCOSAMINIDASE DE.. [+] aspartylglycosaminuria; ASPARTYLGLUCOSAMINIDASE DEFICIENCY; GLYCOSYLASPARAGINASE DEFICIENCY [-]	n_a
Antley-Bixler syndrome	trapezoidocephaly-synostosis syndrome	An autosomal recessive disease that is characteriz..[+] An autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene. [-]
Alstrom syndrome		A syndrome that is characterized by multiorgan dys..[+] A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene. [-]
aneruptive fever	Rickettsia helvetica spotted fever	A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia helvetica, which is transmitted_by ticks (Ixodes sp). The infection has_symptom fever, has_symptom headache, has_symptom myalgia. [-]
adult T-cell leukemia/lymphoma	Adult T-cell leukemia/lymphoma (HTLV-1 positive); .. [+] Adult T-cell leukemia/lymphoma (HTLV-1 positive); adult T-cell leukemia; Adult T-cell leukemia/lymphoma [-]	A T-cell acute leukemia that results_in abnormal i..[+] A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1 (HTLV-1), which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions. [-]
adult spinal muscular atrophy	SPINAL MUSCULAR ATROPHY, ADULT FORM; SPINAL MUSCUL.. [+] SPINAL MUSCULAR ATROPHY, ADULT FORM; SPINAL MUSCULAR ATROPHY, TYPE IV [-]	n_a
autosomal dominant nonsyndromic deafness	autosomal dominant deafness	A nonsyndromic deafness characterized by an autoso..[+] A nonsyndromic deafness characterized by an autosomal dominant inheritance mode. [-]
autosomal recessive nonsyndromic deafness		A nonsyndromic deafness characterized by an autoso..[+] A nonsyndromic deafness characterized by an autosomal recessive inheritance mode. [-]
asphyxiating thoracic dystrophy	Jeune syndrome; short-rib thoracic dysplasia with .. [+] Jeune syndrome; short-rib thoracic dysplasia with or without polydactyly; thoracic pelvic phalangeal dystrophy [-]	A bone development disease characterized by skelet..[+] A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy. [-]
abdominal tuberculosis		An extrapulmonary tuberculosis that is located_in ..[+] An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas. [-]
ABCD syndrome	albinism, block lock, cell migration disorder of t.. [+] albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness [-]	An autosomal recessive disease that is characteriz..[+] An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB). [-]
ADULT syndrome	acro-dermato-ungual-lacrimal-tooth syndrome	An autosomal dominant disease that is characterize..[+] An autosomal dominant disease that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63. [-]
acheiropody	Acheiropodia; Horn-Kolb Syndrome	n_a
acrocapitofemoral dysplasia		n_a

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