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Disease	Synonyms	Description	Articles	Phenotypes
atrial heart septal defect	atrial septal defect; atrioseptal defect; congenit.. [+] atrial septal defect; atrioseptal defect; congenital atrial septal defect; interatrial septal defect; auricular septal defect; interauricular septal defect; [-]	A heart septal defect located_in in the septum tha..[+] A heart septal defect located_in in the septum that separates the two atria of the heart. [-]	2 articles
atrial heart septal defect 1	atrial septal defect 1; ASD1;	An atrial heart septal defect type 1 associated wi..[+] An atrial heart septal defect type 1 associated with variation in the region 5p. [-]
atrial heart septal defect 2	ASD2; atrial septal defect 2;	An atrial heart septal defect type 2 that has_mate..[+] An atrial heart septal defect type 2 that has_material_basis_in heterozygous mutation in the GATA4 gene on chromosome 8p23. [-]
atrial heart septal defect 3	ASD3; atrial septal defect 3;	An atrial heart septal defect type 3 that has_mate..[+] An atrial heart septal defect type 3 that has_material_basis_in heterozygous mutation in the myosin heavy chain-6 gene (MYH6) on chromosome 14q12. [-]
atrial heart septal defect 4	ASD4; atrial septal defect 4;	An atrial heart septal defect type 4 that has_mate..[+] An atrial heart septal defect type 4 that has_material_basis_in mutation in the TBX20 gene. [-]	2 articles
atrial heart septal defect 5	ASD5; atrial septal defect 5;	An atrial heart septal defect type 5 that has_mate..[+] An atrial heart septal defect type 5 that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14. [-]
atrial heart septal defect 6	ASD6; atrial septal defect 6;	An atrial heart septal defect type 6 that has_mate..[+] An atrial heart septal defect type 6 that has_material_basis_in heterozygous mutation in the TLL1 gene on chromosome 4q32. [-]
atrial heart septal defect 7	ASD with or without atrioventricular conduction de.. [+] ASD with or without atrioventricular conduction defects; atrial septal defect 7, with or without AV conduction defects ; atrial septal defect-atrioventricular conduction defects syndrome; [-]	An atrial heart septal defect that has_material_ba..[+] An atrial heart septal defect that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. [-]
atrial heart septal defect 8	ASD8; atrial septal defect 8;	An atrial heart septal defect that has_material_ba..[+] An atrial heart septal defect that has_material_basis_in heterozygous mutation in the CITED2 gene on chromosome 6q23.3. [-]
atrial heart septal defect 9	ASD9; atrial septal defect 9;	An atrial heart septal defect that has_material_ba..[+] An atrial heart septal defect that has_material_basis_in heterozygous mutation in the GATA6 gene on chromosome 18q11. [-]
atrial standstill 1		A heart conduction disease that is characterized b..[+] A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and that has_material_basis_in coinheritance of a variant in the SCN5A gene in combination with a rare connexin-40 genotype. [-]
atrial standstill 2		A heart conduction disease that is characterized b..[+] A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and has_material_basis_in homozygous mutation in the NPPA gene on chromosome 1p36. [-]
atrichia with papular lesions	APL; papular atrichia;	An alopecia characterized by irreversible hair los..[+] An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3. [-]
atrioventricular block	AV block;	A heart conduction disease that is characterized b..[+] A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart. [-]	2 articles
atrioventricular septal defect	atrioventricular canal defect; AVCD; AVSD; ECD; en.. [+] atrioventricular canal defect; AVCD; AVSD; ECD; endocardial cushion defect; [-]	A congenital heart septal defect characterized by ..[+] A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs. [-]	2 articles
atrophic flaccid tympanic membrane		n_a
atrophic gastritis	gastric atrophy;	n_a	1 articles
atrophic glossitis	Glossitis, Hunter's; Atrophy of tongue papillae; H.. [+] Glossitis, Hunter's; Atrophy of tongue papillae; Hunter's glossitis; smooth atrophic tongue; [-]	n_a
atrophic muscular disease		A neuromuscular disease that is characterized by a..[+] A neuromuscular disease that is characterized by an abnormal reduction in the muscle volume and atrophy. [-]
atrophic nonflaccid tympanic membrane		n_a
atrophic rhinitis	dry rhinitis; Ozaena; ozena; rhinitis sicca; Rhini.. [+] dry rhinitis; Ozaena; ozena; rhinitis sicca; Rhinitis, atrophic; [-]	A rhinitis which involves inflammation of the nose..[+] A rhinitis which involves inflammation of the nose characterized by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues. [-]
atrophic vulva	Atrophy of vulva;	A vulvar disease that is characterized by the pres..[+] A vulvar disease that is characterized by the presence of atrophy and associated with decreased estrogenization. [-]
atrophoderma vermiculata		A keratosis pilaris atrophicans that typically pre..[+] A keratosis pilaris atrophicans that typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead. [-]
atrophy of prostate		n_a
atrophy of testis		n_a
attention deficit hyperactivity disorder	ADHD; hyperkinetic disorder; attention deficit dis.. [+] ADHD; hyperkinetic disorder; attention deficit disorder; [-]	A specific developmental disorder that is characte..[+] A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age. [-]	2 articles
atypical Gaucher's disease due to saposin c deficiency		A Gaucher's disease that has_material_basis_in com..[+] A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1. [-]
atypical autism	PDD;	An autism spectrum disorder that involves some aut..[+] An autism spectrum disorder that involves some autistic symptoms occurring after age 3 with an absence of all the traits necessary for a diagnosis of autism. [-]
atypical breast papilloma		n_a
atypical choroid plexus papilloma	Atypical Choroid Plexus papilloma; Atypical choroi.. [+] Atypical Choroid Plexus papilloma; Atypical choroid plexus papilloma (morphologic abnormality); Atypical choroid plexus papilloma; [-]	n_a
atypical chronic myeloid leukemia, BCR-ABL1 negative	aCML; atypical chronic myeloid leukemia BCR-ABL1 n.. [+] aCML; atypical chronic myeloid leukemia BCR-ABL1 negative; subacute granulocytic leukemia; subacute myelogenous leukemia; subacute myeloid leukemia; atypical chronic myeloid leukaemia; atypical chronic myeloid leukaemia BCR-ABL1 negative; atypical CML; [-]	A myelodysplastic myeloproliferative neoplasm char..[+] A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. [-]
atypical depressive disorder	Atypical depression;	A mood disorder that is characterized by mood reac..[+] A mood disorder that is characterized by mood reactivity and positivity, significant weight gain or increased appetite, excessive sleep or somnolence, a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection. [-]
atypical dopamine transporter deficiency syndrome	atypical DTDS;	A dopamine transporter deficiency syndrome charact..[+] A dopamine transporter deficiency syndrome characterized by normal psychomotor development through early childhood and late childhood-to-adult onset of parkinsonism-dystonia. [-]
atypical follicular adenoma	Atypical Follicular adenoma; Atypical follicular a.. [+] Atypical Follicular adenoma; Atypical follicular adenoma (morphologic abnormality); Atypical follicular adenoma; [-]	n_a
atypical hemolytic-uremic syndrome		A complement deficiency that is characterized by m..[+] A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction. [-]
atypical hereditary sensory neuropathy		A hereditary sensory neuropathy characterized by l..[+] A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities. [-]
atypical neurofibroma		n_a
atypical polypoid adenomyoma	Atypical polypoid adenomyoma; Atypical polypoid ad.. [+] Atypical polypoid adenomyoma; Atypical polypoid adenomyoma (morphologic abnormality); [-]	An adenomyoma that is a biphasic polypoid lesion c..[+] An adenomyoma that is a biphasic polypoid lesion consisting of a myofibroblastic stromal component and an endometrial intraepithelial neoplasm. [-]
atypical teratoid rhabdoid tumor	AT/RT; Atypical teratoid/rhabdoid tumor (morpholog.. [+] AT/RT; Atypical teratoid/rhabdoid tumor (morphologic abnormality); atypical teratoid rhabdoid tumour; Atypical teratoid/rhabdoid tumor; Atypical teratoid/rhabdoid tumour; Rhabdoid tumor of the CNS; rhabdoid tumor predisposition syndrome; Rhabdoid tumour of the CNS; [-]	A brain cancer that is usually located in the brai..[+] A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system. [-]
auditory agnosia		An agnosia that is a loss of the ability to distin..[+] An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal. [-]
auditory system benign neoplasm		A sensory system benign neoplasm that is located i..[+] A sensory system benign neoplasm that is located in the auditory system. [-]
auditory system cancer		An organ system cancer located_in the ear and char..[+] An organ system cancer located_in the ear and characterized by uncontrolled cellular proliferation of the auditory organs. [-]
auditory system disease	ear and mastoid disease;	A sensory system disease that is characterized by ..[+] A sensory system disease that is characterized by auditory dysfunction located_in the auditory system. [-]	17 articles
autism spectrum disorder		A pervasive developmental disorder that is a spect..[+] A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior. [-]	29 articles
autistic disorder	autism; autistic disorder of childhood onset; Kann.. [+] autism; autistic disorder of childhood onset; Kanner's syndrome; childhood autism; infantile autism; [-]	An autism spectrum disorder that is characterized ..[+] An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years. [-]	3 articles
autoimmune cholangitis	autoimmune cholangiopathy;	An autoimmune hepatitis that is characterized by p..[+] An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera. [-]
autoimmune disease	autoimmune disease; autoimmune hypersensitivity di.. [+] autoimmune disease; autoimmune hypersensitivity disease; hypersensitivity reaction type II disease; [-]	An immune system disease that is an overactive imm..[+] An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues. [-]	26 articles	12 matches
autoimmune disease of blood		An autoimmune disease that is the abnormal functio..[+] An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood. [-]
autoimmune disease of cardiovascular system		A hypersensitivity reaction type II disease that i..[+] A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system. [-]	2 articles
autoimmune disease of central nervous system		An autoimmune hypersensitivity disease located_in ..[+] An autoimmune hypersensitivity disease located_in the central nervous system. [-]	12 articles	4 matches

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