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Disease	Synonyms	Description
alpha-methylacyl-CoA racemase deficiency	AMACR deficiency;	A peroxisomal disease that is characterized by ret..[+] A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1. [-]
alternating esotropia		n_a
alternating exotropia		n_a
alternating hemiplegia of childhood	AHC;	A hemiplegia characterized by recurrent episodes o..[+] A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body. [-]
alveolar echinococcosis	alveolococcosis; echinococcus multilocularis infec.. [+] alveolococcosis; echinococcus multilocularis infection; Multilocular hydatid; small fox tapeworm; [-]	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. [-]
alveolar periostitis	Alveolar periostitis (disorder); Alveolitis of jaw.. [+] Alveolar periostitis (disorder); Alveolitis of jaw; Alveolitis of jaw (disorder); Alveolitis of jaw NOS (disorder); Dry socket; Dry tooth socket; [-]	n_a
alveolar rhabdomyosarcoma	alveolar childhood rhabdomyosarcoma; Alveolar Rhab.. [+] alveolar childhood rhabdomyosarcoma; Alveolar Rhabdomyosarcoma; Alveolar rhabdomyosarcoma (disorder); Alveolar rhabdomyosarcoma (morphologic abnormality); pediatric Alveolar Rhabdomyosarcoma; [-]	n_a
alveolar soft part sarcoma	adult alveolar soft part sarcoma; Alveolar Soft Pa.. [+] adult alveolar soft part sarcoma; Alveolar Soft Part sarcoma; childhood alveolar soft part sarcoma; pediatric Alveolar soft Part sarcoma; [-]	A soft tissue cancer that is a slow growing tumor ..[+] A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults. [-]
alveoli adenoma	adenoma of alveoli; adenoma of the alveoli; Alveol.. [+] adenoma of alveoli; adenoma of the alveoli; Alveolar adenoma (morphologic abnormality); [-]	n_a
amblyopia		n_a
amebiasis	amoebiasis; chronic intestinal amebiasis; entamoeb.. [+] amoebiasis; chronic intestinal amebiasis; entamoebiasis; [-]	A parasitic protozoa infectious disease that invol..[+] A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs. [-]
amelanotic melanoma	Amelanotic melanoma; Amelanotic melanoma (morpholo.. [+] Amelanotic melanoma; Amelanotic melanoma (morphologic abnormality); [-]	n_a
ameloblastoma		A cell type benign neoplasm that has_material_basi..[+] A cell type benign neoplasm that has_material_basis_in odontogenic epithelium. [-]
amelogenesis imperfecta		A dental enamel hypoplasia characterized by abnorm..[+] A dental enamel hypoplasia characterized by abnormal enamel formation. [-]
amelogenesis imperfecta hypomaturation type 2A2	AI2A2; amelogenesis imperfecta hypomaturation type.. [+] AI2A2; amelogenesis imperfecta hypomaturation type IIA2; amelogenesis imperfecta pigmented hypomaturation type 2; amelogenesis imperfecta type IIA2; [-]	An amelogenesis imperfecta that has material basis..[+] An amelogenesis imperfecta that has material basis in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20). [-]
amelogenesis imperfecta hypomaturation type 2A3	AI2A3; amelogenesis imperfecta hypomaturation type.. [+] AI2A3; amelogenesis imperfecta hypomaturation type IIA3; amelogenesis imperfecta type IIA3; [-]	An amelogenesis imperfecta caused by homozygous mu..[+] An amelogenesis imperfecta caused by homozygous mutation in the WDR72 gene. [-]
amelogenesis imperfecta hypomaturation type 2A4	AI2A4; amelogenesis imperfecta hypomaturation type.. [+] AI2A4; amelogenesis imperfecta hypomaturation type IIA4; amelogenesis imperfecta type IIA4; [-]	An amelogenesis imperfecta caused by homozygous m..[+] An amelogenesis imperfecta caused by homozygous mutation in the C4ORF26 gene on chromosome 4q21. [-]
amelogenesis imperfecta hypomaturation type 2A5	AI2A5; amelogenesis imperfecta hypomaturation type.. [+] AI2A5; amelogenesis imperfecta hypomaturation type IIA5; amelogenesis imperfecta type IIA5; [-]	An amelogenesis imperfecta that has_material_basis..[+] An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the SLC24A4 gene on chromosome 14q32. [-]
amelogenesis imperfecta type 1A	AI1A; amelogenesis imperfecta hypoplastic type IA;.. [+] AI1A; amelogenesis imperfecta hypoplastic type IA; amelogenesis imperfecta type IA; [-]	An amelogenesis imperfecta that has material basis..[+] An amelogenesis imperfecta that has material basis in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32. [-]
amelogenesis imperfecta type 1B	AI1B; AIH2; amelogenesis imperfecta type IB; autos.. [+] AI1B; AIH2; amelogenesis imperfecta type IB; autosomal dominant hypoplastic local amelogenesis imperfecta; hereditary localized enamel hypoplasia; [-]	An amelogenesis imperfecta that has material basis..[+] An amelogenesis imperfecta that has material basis in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13. [-]
amelogenesis imperfecta type 1C	AI1C; amelogenesis imperfecta type IC; autosomal r.. [+] AI1C; amelogenesis imperfecta type IC; autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion; autosomal recessive amelogenesis imperfecta local hypoplastic type; [-]	An amelogenesis imperfecta that has material basis..[+] An amelogenesis imperfecta that has material basis in homozygous mutation in the enamelin gene (ENAM). [-]
amelogenesis imperfecta type 1E	AIH1; amelogenesis imperfecta hypomaturationtype w.. [+] AIH1; amelogenesis imperfecta hypomaturationtype with snow-capped teeth; amelogenesis imperfecta type IE; X-linked amelogenesis imperfecta 1; X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1; X-linked enamel hypoplasia; [-]	An amelogenesis imperfecta that has material basis..[+] An amelogenesis imperfecta that has material basis in mutation in the gene encoding amelogenin (AMELX). [-]
amelogenesis imperfecta type 1F	AI1F; amelogenesis imperfecta hypoplastic type IF;.. [+] AI1F; amelogenesis imperfecta hypoplastic type IF; amelogenesis imperfecta type IF; [-]	An amelogenesis imperfecta that has material basis..[+] An amelogenesis imperfecta that has material basis in homozygous mutation in the ameloblastin gene (AMBN) on chromosome 4q13. [-]
amelogenesis imperfecta type 1G	AI1G; AIGFS; amelogenesis imperfecta and gingival .. [+] AI1G; AIGFS; amelogenesis imperfecta and gingival fibromatosis syndrome; amelogenesis imperfecta hypoplastic with nephrocalcinosis; amelogenesis imperfecta type IG; enamel-renal syndrome; enamel-renal-gingival syndrome; ERS; [-]	An amelogenesis imperfecta that has material basis..[+] An amelogenesis imperfecta that has material basis in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24. [-]
amelogenesis imperfecta type 1H	AI1H; amelogenesis imperfecta type IH;	An amelogenesis imperfecta that has material basis..[+] An amelogenesis imperfecta that has material basis in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24. [-]
amelogenesis imperfecta type 2A1	AI2A1; amelogenesis imperfecta pigmented hypomatur.. [+] AI2A1; amelogenesis imperfecta pigmented hypomaturation type 1; amelogenesis imperfecta type IIA1; [-]	An amelogenesis imperfecta that has_material_basis..[+] An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13. [-]
amelogenesis imperfecta type 3	AI3; hypocalcified amelogenesis imperfecta;	An amelogenesis imperfecta characterized by soft e..[+] An amelogenesis imperfecta characterized by soft enamel that is initially of normal thickness but lost soon after tooth eruption. [-]
amelogenesis imperfecta type 3A	ADHCAI; AI3; amelogenesis imperfecta hypomineraliz.. [+] ADHCAI; AI3; amelogenesis imperfecta hypomineralization type; amelogenesis imperfecta type III; autosomal dominant amelogenesis imperfecta hypocalcification type; [-]	An amelogenesis imperfecta type 3 that has_materia..[+] An amelogenesis imperfecta type 3 that has_material_basis_in heterozygous mutation in the FAM83H gene on chromosome 8q24. [-]
amelogenesis imperfecta type 4	AI4; AIHHT; amelogenesis imperfecta hypomaturation.. [+] AI4; AIHHT; amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism; [-]	An amelogenesis imperfecta which can have material..[+] An amelogenesis imperfecta which can have material basis in mutation in the DLX3 gene. [-]
amenorrhea	absence of menstruation; amenia;	n_a
ametropic amblyopia	Refractive amblyopia;	n_a
amino acid metabolic disorder	inborn errors of amino acid metabolism;	An inherited metabolic disorder that is characteri..[+] An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids. [-]
aminoglycoside-induced deafness	streptomycin ototoxicity; streptomycin-induced dea.. [+] streptomycin ototoxicity; streptomycin-induced deafness; [-]	A drug-induced hearing loss characterized by heari..[+] A drug-induced hearing loss characterized by hearing loss induced by therapeutic doses of aminoglycoside antibiotics that has_material_basis_in mutation in the mitochondrial genes MTRNR1 or MTCO1 in combination with homozygous mutation in TRMU on chromosome 22q13.31. [-]
amnestic disorder	amnesia; Amnestic syndrome; Korsakoff's psychosis .. [+] amnesia; Amnestic syndrome; Korsakoff's psychosis or syndrome; [-]	A cognitive disorder where the memory is disturbed..[+] A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information. [-]
amodiaquine allergy	Camoquin allergy; Flavoquine allergy;	A drug allergy that has_allergic_trigger amodiaqui..[+] A drug allergy that has_allergic_trigger amodiaquine. [-]
amphetamine abuse		A substance abuse that involves the recurring use ..[+] A substance abuse that involves the recurring use of amphetamines despite negative consequences. [-]
ampulla of Vater adenocarcinoma	adenocarcinoma of ampulla of vater; ampullary aden.. [+] adenocarcinoma of ampulla of vater; ampullary adenocarcinoma; [-]	An ampulla of Vater carcinoma that derives_from ep..[+] An ampulla of Vater carcinoma that derives_from epithelial cells of glandular origin. [-]
ampulla of Vater adenosquamous carcinoma		An ampulla of Vater carcinoma that derives_from sq..[+] An ampulla of Vater carcinoma that derives_from squamous cells and gland-like cells. [-]
ampulla of Vater cancer	malignant tumour of ampulla of vater;	n_a
ampulla of Vater carcinoma	ampulla of vater cancer; ampullary carcinoma; carc.. [+] ampulla of vater cancer; ampullary carcinoma; carcinoma of ampulla of vater (disorder); carcinoma of ampulla of vater; [-]	An ampulla of Vater cancer that has_material_basis..[+] An ampulla of Vater cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. [-]
ampulla of Vater clear cell adenocarcinoma		n_a
ampulla of Vater mucinous adenocarcinoma		n_a
ampulla of Vater neoplasm	tumor of the ampulla of Vater;	n_a
ampulla of Vater small cell carcinoma	ampullary small cell carcinoma;	n_a
ampulla of Vater squamous cell carcinoma		An ampulla of Vater carcinoma that derives_from ep..[+] An ampulla of Vater carcinoma that derives_from epithelial squamous cells. [-]
ampullary signet ring cell adenocarcinoma	ampullary signet ring cell carcinoma;	n_a
amusia	receptive amusia;	An agnosia that is a loss of the ability to recogn..[+] An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals. [-]
amyloid tumor	Amyloid neoplasm; Amyloid tumor (morphologic abnor.. [+] Amyloid neoplasm; Amyloid tumor (morphologic abnormality); [-]	n_a
amyloidosis	amyloid disease;	A disease of metabolsism that is characterized by ..[+] A disease of metabolsism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition. [-]
amyotrophic lateral sclerosis	ALS; Lou Gehrig's disease; motor neuron disease, b.. [+] ALS; Lou Gehrig's disease; motor neuron disease, bulbar; [-]	A motor neuron disease that is characterized by mu..[+] A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing. [-]

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