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Disease	Synonyms	Description
arterial tortuosity syndrome		A connective tissue disease that is characterized ..[+] A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta. [-]
arteriolosclerosis	Arteriolosclerosis (morphologic abnormality);	An arteriosclerosis that is characterized by thick..[+] An arteriosclerosis that is characterized by thickening of the wall of the small arteries and arterioles, caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy, and results in lumen narrowing and tissue ischemia. [-]
arteriosclerosis	Arteriosclerosis (morphologic abnormality); Arteri.. [+] Arteriosclerosis (morphologic abnormality); Arteriosclerosis NOS; Arteriosclerotic vascular disease (disorder); Arteriosclerotic vascular disease NOS; [-]	An artery disease that is characterized by a thick..[+] An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries. [-]
arteriosclerosis obliterans	Arteriosclerosis obliterans (disorder); Arterioscl.. [+] Arteriosclerosis obliterans (disorder); Arteriosclerosis obliterans (disorder) [Ambiguous]; [-]	n_a
arteriosclerotic cardiovascular disease	Arteriosclerotic Cardiovascular disease; Arteriosc.. [+] Arteriosclerotic Cardiovascular disease; Arteriosclerotic cardiovascular disease; Arteriosclerotic cardiovascular disease, NOS; Atherosclerotic Cardiovascular disease; Atherosclerotic cardiovascular disease; Cardiovascular arteriosclerosis unspecified (disorder); [-]	n_a
arteriovenous malformation	Arteriovenous hemangioma (disorder); Cirsoid aneur.. [+] Arteriovenous hemangioma (disorder); Cirsoid aneurysm; Racemose aneurysm (morphologic abnormality); Racemose Angioma; Racemose hemangioma (morphologic abnormality); [-]	An anomalous configuration of blood vessels that s..[+] An anomalous configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system. [-]
arteriovenous malformations of the brain	cerebral arteriovenous malformation; intracranial .. [+] cerebral arteriovenous malformation; intracranial arteriovenous malformation; [-]	An arteriovenous malformation that is located_in t..[+] An arteriovenous malformation that is located_in the brain. [-]
arteritic anterior ischemic optic neuropathy		n_a
artery disease		A vascular disease that is located_in an artery.
arthritis	Inflammatory disorder of joint;	A bone inflammation disease that involves a respon..[+] A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint and/or redness located_in skin over the joint. [-]
arthrogryposis due to muscular dystrophy	congenital muscular dystrophy producing arthrogryp.. [+] congenital muscular dystrophy producing arthrogryposis; [-]	A congenital muscular dystrophy characterized by n..[+] A congenital muscular dystrophy characterized by nonprogressive myopathy resulting in an arthrogryposis syndrome. [-]
arthrogryposis multiplex congenita		A nervous system disease that is characterized by ..[+] A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth. [-]
arthrogryposis multiplex congenita-5		An arthrogryposis multiplex congenita that has_mat..[+] An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the TOR1A gene on chromosome 9q34. [-]
arthropathy	ankylosis of ankle and foot joint; ankylosis of fo.. [+] ankylosis of ankle and foot joint; ankylosis of forearm joint; ankylosis of hand joint; Ankylosis of joint of ankle and/or foot (disorder); Ankylosis of joint of forearm (disorder); Ankylosis of joint of hand (disorder); Ankylosis of joint of lower leg (disorder); ankylosis of joint of multiple sites; Ankylosis of joint of multiple sites (disorder); ankylosis of joint of pelvic region and thigh; ankylosis of joint of shoulder region; Ankylosis of joint of shoulder region (disorder); Ankylosis of joint of upper arm (disorder); ankylosis of lower leg joint; Ankylosis of multiple joints; ankylosis of upper arm joint; Infectious arthropathy; Joint ankylosis of the ankle and foot; Joint ankylosis of the ankle and/or foot (disorder); Joint ankylosis of the forearm; Joint ankylosis of the forearm (disorder); Joint ankylosis of the hand; Joint ankylosis of the lower leg; Joint ankylosis of the lower leg (disorder); Joint ankylosis of the pelvic region and thigh; Joint ankylosis of the pelvic region and thigh (disorder); Joint ankylosis of the shoulder region; Joint ankylosis of the shoulder region (disorder); Joint ankylosis of the upper arm; Joint ankylosis of the upper arm (disorder); [-]	A bone inflammation disease that is located_in joi..[+] A bone inflammation disease that is located_in joint. [-]
arthus reaction	Arthus Phenomenon; Arthus phenomenon; Arthus react.. [+] Arthus Phenomenon; Arthus phenomenon; Arthus reaction (function); Arthus type urticaria; [-]	A hypersensitivity reaction type III disease that ..[+] A hypersensitivity reaction type III disease that is characterized by local vasculitis, has_symptom pain, edema, hemorrhage, or necrosis, and has_material_basis_in deposition of antigen-antibody immune complexes in vascular or serosal walls. [-]
articular cartilage disease		n_a
articulation disorder	Articulation impairment; Phonological disorder;	A speech disorder that involves mispronouncing spe..[+] A speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand. [-]
aryepiglottic fold cancer	malignant neoplasm of hypopharyngeal aspect of ary.. [+] malignant neoplasm of hypopharyngeal aspect of aryepiglottic fold; malignant tumor aryepiglottic fold - hypopharyngeal aspect (disorder); malignant tumor aryepiglottic fold - hypopharyngeal aspect; [-]	n_a
asbestos-related lung carcinoma		n_a
asbestosis		A pneumoconiosis caused by inhalation and retentio..[+] A pneumoconiosis caused by inhalation and retention of asbestos fibers. [-]
ascariasis	Ascariasis - roundworm; Ascaris lumbricoides infec.. [+] Ascariasis - roundworm; Ascaris lumbricoides infection; [-]	A parasitic helminthiasis infectious disease that ..[+] A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation. [-]
ascaridiasis		A parasitic helminthiasis infectious disease that ..[+] A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia. [-]
ascending cholangitis	Ascending Cholangitis; Ascending cholangitis (diso.. [+] Ascending Cholangitis; Ascending cholangitis (disorder); [-]	n_a
ascending colon cancer	Ca ascending colon; Ca ascending colon (disorder);.. [+] Ca ascending colon; Ca ascending colon (disorder); malignant neoplasm of right colon; malignant tumor of ascending colon (disorder); [-]	n_a
aseptic meningitis	acute aseptic meningitis; Aseptic meningitis; Asep.. [+] acute aseptic meningitis; Aseptic meningitis; Aseptic meningitis (disorder); [-]	n_a
aspartylglucosaminuria	ASPARTYLGLUCOSAMINIDASE DEFICIENCY; aspartylglycos.. [+] ASPARTYLGLUCOSAMINIDASE DEFICIENCY; aspartylglycosaminuria; GLYCOSYLASPARAGINASE DEFICIENCY; [-]	n_a
aspergillosis	Infection due to Aspergillus;	An opportunistic mycosis that involves a spectrum ..[+] An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney,heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system. [-]
asphyxia neonatorum	Asphyxia - birth; Asphyxia, in liveborn infant; Bi.. [+] Asphyxia - birth; Asphyxia, in liveborn infant; Birth asphyxia; postnatal asphyxia; [-]	n_a
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. [-]
asphyxiating thoracic dystrophy 1	ATD1; short-rib thoracic dysplasia 1 with or witho.. [+] ATD1; short-rib thoracic dysplasia 1 with or without polydactyly; SRTD1; [-]	An asphyxiating thoracic dystrophy associated with..[+] An asphyxiating thoracic dystrophy associated with variation in the region 15q13. [-]
asphyxiating thoracic dystrophy 2	ATD2; short-rib thoracic dysplasia 2 with or witho.. [+] ATD2; short-rib thoracic dysplasia 2 with or without polydactyly ; SRTD2; [-]	An asphyxiating thoracic dystrophy that has_materi..[+] An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25. [-]
asphyxiating thoracic dystrophy 3	ATD3; polydactyly with neonatal chondrodystrophy, .. [+] ATD3; polydactyly with neonatal chondrodystrophy, type I; polydactyly with neonatal chondrodystrophy, type III; Saldino-Noonan syndrome; short rib-polydactyly syndrome, type I; short rib-polydactyly syndrome, type IIB; short-rib thoracic dysplasia 3 with or without polydactyly; SRPS1; SRPS2B; SRPS3; SRTD3; Verma-Naumoff syndrome; [-]	An asphyxiating thoracic dystrophy that has_materi..[+] An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. [-]
asphyxiating thoracic dystrophy 4	ATD4; short-rib thoracic dysplasia 4 with or witho.. [+] ATD4; short-rib thoracic dysplasia 4 with or without polydactyly ; SRTD4; [-]	An asphyxiating thoracic dystrophy has_material_ba..[+] An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24. [-]
asphyxiating thoracic dystrophy 5	ATD5; short-rib thoracic dysplasia 5 with or witho.. [+] ATD5; short-rib thoracic dysplasia 5 with or without polydactyly; SRTD5; [-]	An asphyxiating thoracic dystrophy that has_materi..[+] An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14. [-]
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. [-]
aspiration pneumonitis	Chemical pneumonitis; Mendelson's Syndrome;	A pneumonia that is defined as an acute lung injur..[+] A pneumonia that is defined as an acute lung injury after the inhalation of foreign material such as regurgitated acidic gastric contents, petroleum products and laxative oils. This syndrome occurs in patients who have a marked disturbance of consciousness such as that resulting from a drug overdose, seizures, a massive cerebrovascular accident, or the use of anesthesia. Aspiration of gastric contents results in a chemical burn of the tracheobronchial tree and pulmonary parenchyma, causing an intense parenchymal inflammatory reaction. The disease has_symptom non-productive cough, has_symptom tachypnea, has_symptom bronchospasm, has_symptom bloody sputum, has_symptom frothy sputum, or has_symptom respiratory distress, 2-5 hrs after aspiration. [-]
aspirin allergy	acetylsalicylic acid allergy; ASA allergy;	A drug allergy that has_allergic_trigger acetylsal..[+] A drug allergy that has_allergic_trigger acetylsalicylic acid. [-]
associative agnosia		An agnosia that is a loss of the ability to recogn..[+] An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them. [-]
astereognosia	somatosensory agnosia;	An agnosia that is the loss of the ability to reco..[+] An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight. [-]
asthenopia	Accommodative strain;	n_a
asthma	bronchial hyperreactivity; chronic obstructive ast.. [+] bronchial hyperreactivity; chronic obstructive asthma; chronic obstructive asthma with acute exacerbation; chronic obstructive asthma with status asthmaticus; Exercise induced asthma; exercise-induced asthma; [-]	A bronchial disease that is characterized by chron..[+] A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing. [-]
asthma, nasal polyps, and aspirin intolerance	ASA triad;	A respiratory system disease characterized by asth..[+] A respiratory system disease characterized by asthma, aspirin-induced bronchoconstriction, and nasal polyps. [-]
astigmatism		A refractive error characterized by the optics of ..[+] A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision. [-]
astroblastoma	Astroblastoma (morphologic abnormality);	n_a
astroblastoma, MN1-altered	CNS high-grade neuroepithelial tumors with MN1 alt.. [+] CNS high-grade neuroepithelial tumors with MN1 alteration; [-]	An astroblastoma that is characterized by astrobla..[+] An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q. [-]
astrocytoma	Astrocytic tumor; astrocytoma of brain (disorder);.. [+] Astrocytic tumor; astrocytoma of brain (disorder); astrocytoma of Cerebrum; astrocytoma, no ICD-O subtype (morphologic abnormality); astroglioma; cerebral astrocytoma; [-]	A malignant glioma that is has_material_basis_in a..[+] A malignant glioma that is has_material_basis_in astocyte cells, a type of star-shaped glial cell, located_in the cerebrum. [-]
astrocytoma, IDH-mutant, grade 2		An IDH-mutant anaplastic astrocytoma that is chara..[+] An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system. [-]
astrocytoma, IDH-mutant, grade 3		An IDH-mutant anaplastic astrocytoma that is chara..[+] An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features. [-]
astrocytoma, IDH-mutant, grade 4		An IDH-mutant anaplastic astrocytoma that is chara..[+] An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas. [-]
asymmetric motor neuropathy		n_a

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