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Disease	Synonyms	Description
alcohol-related neurodevelopmental disorder	ARND; static encephalopathy;	A fetal alcohol spectrum disorder that results in ..[+] A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure. [-]
alcohol use disorder	Ethanol abuse; alcohol abuse;	A substance abuse that involves the recurring use ..[+] A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences. [-]
alcuronium bromide allergy		A drug allergy that has_allergic_trigger alcuroniu..[+] A drug allergy that has_allergic_trigger alcuronium bromide. [-]
aleukemic leukemia	aleukemic myelosis;	A leukemia that arises from changes in the tissues..[+] A leukemia that arises from changes in the tissues forming white blood cells and characterized by the absence of leukemic cells in the peripheral blood. [-]
aleukemic leukemia cutis		An aleukemic leukemia that is characterized by the..[+] An aleukemic leukemia that is characterized by the infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. [-]
aleukemic monocytic leukemia cutis		An aleukemic leukemia cutis that is characterized ..[+] An aleukemic leukemia cutis that is characterized by infiltration of the skin by neoplastic monocytes. [-]
aleutian mink disease	Aleutian disease;	A viral infectious disease that results_in inflamm..[+] A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia. [-]
Alexander disease	Alexander's disease;	A leukodystrophy that is characterized by the dest..[+] A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes. [-]
alexia	acquired dyslexia; Aphemesthaesia;	An agnosia that is a loss of the ability to recogn..[+] An agnosia that is a loss of the ability to recognize text. [-]
alexithymia		An agnosia that is a deficiency in understanding, ..[+] An agnosia that is a deficiency in understanding, processing, or describing emotions. [-]
algoneurodystrophy	Algoneurodystrophy (disorder); Algoneurodystrophy .. [+] Algoneurodystrophy (disorder); Algoneurodystrophy NOS (disorder); [-]	n_a
alkaptonuria	alcaptonuria; deficiency of homogentisicase; Homog.. [+] alcaptonuria; deficiency of homogentisicase; Homogentisate 1,2-dioxygenase deficiency; [-]	An amino acid metabolic disorder that involves phe..[+] An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct. [-]
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. [-]
Alkuraya-Kucinskas syndrome	ALKKUCS;	A syndrome characterized by arthrogryposis, cerebr..[+] A syndrome characterized by arthrogryposis, cerebral parenchymal underdevelopment, clubfoot, and global developmental delay with severe cases being incompatible with life that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA1109 gene on chromosome 4q27. [-]
Allan-Herndon-Dudley syndrome	ALLAN-HERNDON SYNDROME; AHDS;	A syndrome that has_material_basis_in mutation in ..[+] A syndrome that has_material_basis_in mutation in the MCT8 gene on chromosome Xq13. [-]
allergic asthma	atopic asthma; extrinsic asthma with acute exacerb.. [+] atopic asthma; extrinsic asthma with acute exacerbation; extrinsic asthma with status asthmaticus; [-]	An extrinsic asthma that is characterized by sympt..[+] An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness. [-]
allergic bronchopulmonary aspergillosis	pulmonary aspergillus disease;	An aspergillosis that involves an allergic reactio..[+] An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has symptom cough, has symptom wheezing and has symptom fever. [-]
allergic conjunctivitis		A chronic conjunctivitis that is an inflammation o..[+] A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant. [-]
allergic contact dermatitis	Allergic Contact Dermatitis; Allergic contact derm.. [+] Allergic Contact Dermatitis; Allergic contact dermatitis; Allergic contact dermatitis (disorder); [-]	A contact dermatitis that is an allergic skin reac..[+] A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign. [-]
allergic contact dermatitis of eyelid	Contact and allergic dermatitis of eyelid;	A noninfectious dermatoses of eyelid that is chara..[+] A noninfectious dermatoses of eyelid that is characterized by eczema, pruritis, or erythematous vesicles or papules of the eyelids, and has_material_basis_in a type IV hypersenstivity reaction to an allergen or irritant. [-]
allergic cutaneous vasculitis	Allergic Cutaneous Angiitis; Autoimmune Hypersensi.. [+] Allergic Cutaneous Angiitis; Autoimmune Hypersensitivity angiitis; [-]	A hypersensitivity vasculitis that results_in infl..[+] A hypersensitivity vasculitis that results_in inflammation of small blood vessels, characterized clinically by palpable purpura, which is a slightly elevated purpuric rash over one or more areas of the skin. [-]
allergic disease	allergic disease; allergy; hypersensitivity; hyper.. [+] allergic disease; allergy; hypersensitivity; hypersensitivity reaction type I disease; allergic hypersensitivity disease; [-]	An immune system disease that is an exaggerated im..[+] An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods. [-]
allergic rhinitis	atopic rhinitis; hay fever; Non-seasonal allergic .. [+] atopic rhinitis; hay fever; Non-seasonal allergic rhinitis; Perenial allergic rhinitis; pollenosis; seasonal allergic rhinitis; [-]	A rhinitis that is an allergic inflammation and ir..[+] A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites. [-]
allergic urticaria	Allergic urticaria (disorder);	An urticaria that is characterized by erythematous..[+] An urticaria that is characterized by erythematous papules and plaques, has_symptom pruritis, and has_material_basis_in allergic reaction. [-]
allescheriosis	Petriellidosis;	A primary systemic mycosis that results_in systemi..[+] A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Pseudallescheria boydii, which results_in_formation_of abscesses. [-]
alopecia		A hypotrichosis that is characterized by a loss of..[+] A hypotrichosis that is characterized by a loss of hair from the head or body. [-]
alopecia areata	Circumscribed alopecia;	An autoimmune disease resulting in the loss of hai..[+] An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots. [-]
alopecia-mental retardation syndrome		A syndrome that is characterized by loss of hair o..[+] A syndrome that is characterized by loss of hair on the scalp, eyebrows, eyelashes, axillas and pubic hair, in addition to mild to severe intellectual disability. [-]
alopecia-mental retardation syndrome 1		An alopecia-mental retardation syndrome that has_m..[+] An alopecia-mental retardation syndrome that has_material_basis_in homozygous mutation in the AHSG gene on chromosome 3q27. [-]
alopecia-mental retardation syndrome 2		An alopecia-mental retardation syndrome that has_m..[+] An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 3q26.2-q26.31. [-]
alopecia-mental retardation syndrome 3		An alopecia-mental retardation syndrome that has_m..[+] An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 18q11.2âq12.2. [-]
alopecia-mental retardation syndrome 4		An alopecia-mental retardation syndrome that has_m..[+] An alopecia-mental retardation syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22. [-]
alopecia, neurologic defects, and endocrinopathy syndrome	alopecia-progressive neurological defect-endocrino.. [+] alopecia-progressive neurological defect-endocrinopathy syndrome; ANE syndrome; ANES; [-]	A syndrome characterized by alopecia, neurologic d..[+] A syndrome characterized by alopecia, neurologic defects, and endocrinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RBM28 gene on chromosome 7q32.1. [-]
alopecia universalis	ALOPECIA UNIVERSALIS CONGENITA;	An alopecia characterized by the complete loss of ..[+] An alopecia characterized by the complete loss of hair on the scalp and body. [-]
Alpers-Huttenlocher syndrome	Alper's syndrome; Alpers disease; Alpers progressi.. [+] Alper's syndrome; Alpers disease; Alpers progressive infantile poliodystrophy; Alpers syndrome; Alpers' disease or gray-matter degeneration; Diffuse Cerebral Sclerosis of Schilder; mitochondrial DNA depletion syndrome 4a; progressive sclerosing poliodystrophy; [-]	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26. [-]
alpha 1-antitrypsin deficiency	AAT deficiency;	A plasma protein metabolism disease that has_mater..[+] A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. [-]
alpha-2-plasmin inhibitor deficiency	antiplasmin defiency; plasmin inhibitor deficiency.. [+] antiplasmin defiency; plasmin inhibitor deficiency; [-]	A hemorrhagic disease that has_material_basis_in m..[+] A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes. [-]
alpha chain disease	Seligmann's disease;	A heavy chain disease that results from an overpro..[+] A heavy chain disease that results from an overproduction of alpha antibodies (IgA). [-]
alpha-mannosidosis	deficiency of alpha-mannosidase (disorder); Alpha-.. [+] deficiency of alpha-mannosidase (disorder); Alpha-D-mannosidosis; alpha-mannosidase deficiency; deficiency of alpha-mannosidase; [-]	A lysosomal storage disease that has_material_basi..[+] A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome. [-]
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. [-]
alpha thalassemia	Alpha thalassaemia; alpha-Thalassemia;	A thalassemia involving the genes HBA1and HBA2 hem..[+] A thalassemia involving the genes HBA1and HBA2 hemoglobin genes. [-]
alpha thalassemia-intellectual disability syndrome type 1	alpha thalassemia-intellectual disability syndrome.. [+] alpha thalassemia-intellectual disability syndrome, deletion type; alpha thalassemia-retardation syndrome; alpha-thalassemia/mental retardation syndrome, deletion-type; alpha-thalassemia/mental retardation syndrome, type 1; ATR syndrome linked to chromosome 16; ATR syndrome, deletion type; ATR-16 syndrome; alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; [-]	An alpha thalassemia that has_material_basis_in a ..[+] An alpha thalassemia that has_material_basis_in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others. [-]
alpha-thalassemia myelodysplasia syndrome	acquired HbH disease; acquired hemoglobin H diseas.. [+] acquired HbH disease; acquired hemoglobin H disease; alpha-thalassemia-myelodysplastic syndrome; ATMDS; [-]	A syndrome characterized by acquired alpha-thalass..[+] A syndrome characterized by acquired alpha-thalassemia in association with a multilineage myelodysplasia that has_material_basis_in somatic mutation in the ATRX gene on chromosome Xq21.1. [-]
alpha thalassemia-X-linked intellectual disability syndrome	alpha-thalassemia/mental retardation syndrome nond.. [+] alpha-thalassemia/mental retardation syndrome nondeletion type; ATR, nondeletion type; ATR-X syndrome; [-]	An alpha thalassemia that has_material_basis_in mu..[+] An alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21. [-]
Alport syndrome	Hereditary Nephritis;	A syndrome disease that is characterized by glomer..[+] A syndrome disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss. [-]
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. [-]
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. [-]

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