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Disease	Synonyms	Description	Articles	Phenotypes
age related macular degeneration 9	ARMD9;	An age related macular degeneration conferred by v..[+] An age related macular degeneration conferred by variation in the C3 gene on chromosome 19p13. [-]
agenesis of corpus callosum, cardiac, ocular, and genital syndrome		A syndrome that is characterized by global develop..[+] A syndrome that is characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12. [-]
agenesis of the corpus callosum with peripheral neuropathy	Andermann syndrome; corpus callosum agenesis-neuro.. [+] Andermann syndrome; corpus callosum agenesis-neuronopathy syndrome; Charlevoix disease; [-]	A neurodegenerative disease characterized by autos..[+] A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14. [-]	2 articles
aggressive NK-cell leukemia	Aggressive NK-cell leukemia (morphologic abnormali.. [+] Aggressive NK-cell leukemia (morphologic abnormality); large granular Lymphocyte Leukemia, NK-cell type; aggressive NK-cell leukaemia; natural killer cell leukaemia; natural killer cell leukemia; [-]	A leukemia that is characterized by the systemic p..[+] A leukemia that is characterized by the systemic proliferation of NK cells closely associated with Epstein-Barr virus and that is located_in the peripheral blood, bone marrow, liver, and spleen. [-]
aggressive digital papillary adenocarcinoma		n_a
aggressive periodontitis	juvenile periodontitis;	A periodontitis that is characterized by rapid att..[+] A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium. [-]
aggressive systemic mastocytosis	ASM; Lymphadenopathic mastocytosis with eosinophil.. [+] ASM; Lymphadenopathic mastocytosis with eosinophilia; Aggressive systemic mastocytosis (morphologic abnormality); Aggressive systemic mastocytosis; [-]	n_a
agnathia-otocephaly complex	dysgnathia complex agnathia-holoprosencephaly; hol.. [+] dysgnathia complex agnathia-holoprosencephaly; holoprosencephaly-agnathia; otocephaly; agnathia-holoprosencephaly-situs inversus syndrome; [-]	A physical disorder characterized by mandibular hy..[+] A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported. [-]
agnosia	Dyspraxia (finding); Dyspraxia syndrome; Dyspraxia.. [+] Dyspraxia (finding); Dyspraxia syndrome; Dyspraxia; [-]	A communication disorder that is a loss of ability..[+] A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss. [-]	3 articles
agoraphobia	Fear of open spaces (finding); Fear of open spaces.. [+] Fear of open spaces (finding); Fear of open spaces; [-]	A phobic disorder involving the specific anxiety a..[+] A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable. [-]
agranulocytosis	granulocytopenia; Granulopenia; Granulocytopenic d.. [+] granulocytopenia; Granulopenia; Granulocytopenic disorder; [-]	A leukopenia that is characterized by a severe lac..[+] A leukopenia that is characterized by a severe lack of of granulocytes with a drop in granulocyte concentration below 200 cells/mm³ of blood. [-]
agraphia		An acquired writing disorder causing a loss in the..[+] An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell. [-]
ainhum	Ainhum; Dactylolysis spontanea;	A connective tissue disease that results in increa..[+] A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later. [-]
akinetic mutism	Coma vigilans (finding); Coma vigilans;	A brain disease characterized by marked reduction ..[+] A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness. [-]
akinetopsia		An agnosia that is a loss of motion perception.
alacrima, achalasia, and impaired intellectual development syndrome	AAMR; alacrima, achalasia, and mental retardation .. [+] AAMR; alacrima, achalasia, and mental retardation syndrome; [-]	A congenital disorder of glycosylation characteriz..[+] A congenital disorder of glycosylation characterized by onset in infancy of alacrima, achalasia, and impaired intellectual development without adrenal insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPA gene on chromosome 2q35. [-]
alcohol dependence	alcoholism;	A substance dependence that is characterized by to..[+] A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol. [-]	2 articles
alcohol use disorder	alcohol abuse; Ethanol abuse;	A substance abuse that involves the recurring use ..[+] A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences. [-]	1 articles
alcohol-induced mental disorder		n_a
alcohol-related birth defects	ARBD;	A fetal alcohol spectrum disorder that results in ..[+] A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure. [-]	2 articles
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. [-]
alcoholic cardiomyopathy	Alcoholic cardiomyopathy; Dilated cardiomyopathy s.. [+] Alcoholic cardiomyopathy; Dilated cardiomyopathy secondary to alcohol (disorder); Dilated cardiomyopathy secondary to alcohol; Alcohol-induced heart muscle disease; [-]	n_a
alcoholic gastritis	Alcoholic Gastritis; Alcoholic gastritis, with hem.. [+] Alcoholic Gastritis; Alcoholic gastritis, with hemorrhage; Alcoholic gastritis, without mention of hemorrhage; Alcoholic gastritis (disorder); Alcoholic gastritis; [-]	n_a
alcoholic hepatitis	acute alcoholic hepatitis; acute alcoholic liver d.. [+] acute alcoholic hepatitis; acute alcoholic liver disease; acute alcoholic liver disease (disorder); Alcoholic hepatitis (disorder); Alcoholic hepatitis; acute Alcoholic Hepatitis; Alcoholic Hepatitis; [-]	n_a
alcoholic liver cirrhosis	Alcoholic Cirrhosis; Laennec's cirrhosis; Portal c.. [+] Alcoholic Cirrhosis; Laennec's cirrhosis; Portal cirrhosis; Alcoholic cirrhosis of liver; Laennec's cirrhosis, alcoholic; [-]	n_a
alcoholic neuropathy	Alcohol-related polyneuropathy; Alcoholic polyneur.. [+] Alcohol-related polyneuropathy; Alcoholic polyneuropathy; [-]	n_a
alcoholic pancreatitis		n_a
alcoholic psychosis	Alcoholic psychoses;	An alcohol-induced mental disorder involving promi..[+] An alcohol-induced mental disorder involving prominent hallucinations and delusions occurring during or shortly after acute alcohol intoxication or withdrawal. [-]
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. [-]
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); Algoneurodystrophy; [-]	n_a
alkaptonuria	Homogentisate 1,2-dioxygenase deficiency; alcapton.. [+] Homogentisate 1,2-dioxygenase deficiency; alcaptonuria; deficiency of homogentisicase; [-]	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. [-]
allergic asthma	extrinsic asthma with acute exacerbation; atopic a.. [+] extrinsic asthma with acute exacerbation; atopic asthma; 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. [-]	1 articles
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. [-]	2 articles	3 matches
allergic rhinitis	atopic rhinitis; Non-seasonal allergic rhinitis; P.. [+] atopic rhinitis; Non-seasonal allergic rhinitis; Perenial allergic rhinitis; pollenosis; seasonal allergic rhinitis; hay fever; [-]	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. [-]	1 articles	3 matches
allergic urticaria	Allergic urticaria (disorder); Allergic urticaria;.. [+] Allergic urticaria (disorder); Allergic urticaria; [-]	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 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. [-]
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. [-]

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