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Disease	Synonyms	Description
agammaglobulinemia 8A		An agammaglobulinemia that has_material_basis_in h..[+] An agammaglobulinemia that has_material_basis_in heterozygous dominant-negative mutation in the TCF3 gene on chromosome 19p13. [-]
agammaglobulinemia 8B		An agammaglobulinemia that is characterized by ons..[+] An agammaglobulinemia that is characterized by onset of recurrent infections in early childhood and that has_material_basis_in homozygous loss-of-function mutation in the TCF3 gene on chromosome 19p13. [-]
agammaglobulinemia 9		An agammaglobulinemia that is characterized by rec..[+] An agammaglobulinemia that is characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC39A7 gene on chromosome 6p21. [-]
AGAT deficiency	arginine:glycine amidinotransferase deficiency; CE.. [+] arginine:glycine amidinotransferase deficiency; CEREBRAL CREATINE DEFICIENCY SYNDROME 3; arginine glycine amidinotransferase deficiency; Cerebral creatine deficiency syndrome 3; [-]	An amino acid metabolic disorder that has_material..[+] An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis. [-]
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; Charlevoix disease; corpus cal.. [+] Andermann syndrome; Charlevoix disease; corpus callosum agenesis-neuronopathy syndrome; [-]	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. [-]
age related macular degeneration	age-related macular degeneration; Senile macular d.. [+] age-related macular degeneration; Senile macular degeneration; Senile macular retinal degeneration; Age Related Maculopathies; Age Related Maculopathy; [-]	A degeneration of macula and posterior pole that i..[+] A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision. [-]
age related macular degeneration 1	age related maculopathy 1; ARMD1;	An age related macular degeneration associated wit..[+] An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1. [-]
age related macular degeneration 10	ARMD10;	An age related macular degeneration associated wit..[+] An age related macular degeneration associated with variation in the genomic region 9:112,100,000-127,500,000 (GRCh38). TLR4 has been put forth as a candidate gene. [-]
age related macular degeneration 11	ARMD11;	An age related macular degeneration conferred by v..[+] An age related macular degeneration conferred by variation in the CST3 gene on chromosome 20p11. [-]
age related macular degeneration 12	ARMD12;	An age related macular degeneration conferred by m..[+] An age related macular degeneration conferred by mutation in the CX3CR1 gene on chromosome 3p22. [-]
age related macular degeneration 13	ARMD13;	An age related macular degeneration conferred by h..[+] An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25. [-]
age related macular degeneration 14	ARMD14;	An age related macular degeneration associated wit..[+] An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21. [-]
age related macular degeneration 15	ARMD15;	An age related macular degeneration conferred by v..[+] An age related macular degeneration conferred by variation in the C9 gene on chromosome 5p13. [-]
age related macular degeneration 2	ARMD2;	An age related macular degeneration conferred by v..[+] An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22. [-]
age related macular degeneration 4	ARMD4;	An age related macular degeneration conferred by v..[+] An age related macular degeneration conferred by variation in the CFH gene on chromosome 1q31. [-]
age related macular degeneration 5	ARMD5;	An age related macular degeneration onferred by he..[+] An age related macular degeneration onferred by heterozygous mutation in the ERCC6 gene on chromosome 10q11. [-]
age related macular degeneration 6	ARMD6;	An age related macular degeneration conferred by h..[+] An age related macular degeneration conferred by heterozygous mutation in the RAXL1 gene on chromosome 19p13. [-]
age related macular degeneration 7	ARMD7;	An age related macular degeneration conferred by v..[+] An age related macular degeneration conferred by variation in the HTRA1 gene on chromosome 10q26. [-]
age related macular degeneration 8	ARMD8;	An age related macular degeneration that has_mater..[+] An age related macular degeneration that has_material_basis_in mutation in the ARMS2 gene, originally designated LOC387715, on chromosome 10q26. [-]
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. [-]
aggressive digital papillary adenocarcinoma		A sweat gland carcinoma characterized by predomina..[+] A sweat gland carcinoma characterized by predominantly digital location with a high recurrence rate and metastatic potential. [-]
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 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	Aggressive systemic mastocytosis (morphologic abno.. [+] Aggressive systemic mastocytosis (morphologic abnormality); ASM; Lymphadenopathic mastocytosis with eosinophilia; [-]	n_a
agnathia-otocephaly complex	agnathia-holoprosencephaly-situs inversus syndrome.. [+] agnathia-holoprosencephaly-situs inversus syndrome; dysgnathia complex agnathia-holoprosencephaly; holoprosencephaly-agnathia; otocephaly; [-]	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. [-]
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; Granulocytopenic disorder; Granu.. [+] granulocytopenia; Granulocytopenic disorder; Granulopenia; [-]	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/mmÂ³ 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. [-]
Aicardi-Goutieres syndrome	Cree encephalitis; AGS;	A syndrome that is a genetically heterogeneous enc..[+] A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections. [-]
Aicardi syndrome		A syndrome that is characterized by absence or und..[+] A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye. [-]
AIDS phobia		n_a
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. [-]
Alagille syndrome	Arteriohepatic dysplasia (disorder); Alagille-Wats.. [+] Arteriohepatic dysplasia (disorder); Alagille-Watson syndrome; Arteriohepatic dysplasia; [-]	A liver disease that is characterized by an accumu..[+] A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts. [-]
Aland Island eye disease	Forsius-Eriksson syndrome; FORSIUS-ERIKSSON TYPE O.. [+] Forsius-Eriksson syndrome; FORSIUS-ERIKSSON TYPE OCULAR ALBINISM; [-]	An eye disease characterized by fundus hypopigment..[+] An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the CACNA1F gene. [-]
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. [-]
alcoholic cardiomyopathy	Alcoholic cardiomyopathy; Dilated cardiomyopathy s.. [+] Alcoholic cardiomyopathy; Dilated cardiomyopathy secondary to alcohol (disorder); Alcohol-induced heart muscle disease; Dilated cardiomyopathy secondary to alcohol; [-]	n_a
alcoholic gastritis	Alcoholic Gastritis; Alcoholic gastritis (disorder.. [+] Alcoholic Gastritis; Alcoholic gastritis (disorder); Alcoholic gastritis, with hemorrhage; Alcoholic gastritis, without mention of hemorrhage; [-]	n_a
alcoholic hepatitis	acute Alcoholic Hepatitis; acute alcoholic liver d.. [+] acute Alcoholic Hepatitis; acute alcoholic liver disease (disorder); Alcoholic Hepatitis; Alcoholic hepatitis; Alcoholic hepatitis (disorder); acute alcoholic hepatitis; acute alcoholic liver disease; [-]	n_a
alcoholic ketoacidosis		A metabolic acidosis that is characterized by the ..[+] A metabolic acidosis that is characterized by the buildup of ketones in the blood due to alcohol use. Ketones are a type of acid that form when the body breaks down fat for energy. [-]
alcoholic liver cirrhosis	Alcoholic Cirrhosis; Alcoholic cirrhosis of liver;.. [+] Alcoholic Cirrhosis; Alcoholic cirrhosis of liver; Laennec's cirrhosis; Laennec's cirrhosis, alcoholic; Portal cirrhosis; [-]	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. [-]
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. [-]

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