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Disease	Synonyms	Description	Articles	Phenotypes
autoimmune disease of eyes, ear, nose and throat		An autoimmune disease located_in eyes, located_in ..[+] An autoimmune disease located_in eyes, located_in ears, located_in nose and located_in throat. [-]
autoimmune disease of gastrointestinal tract		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 gastrointestinal tract. [-]	1 articles
autoimmune disease of musculoskeletal system		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 musculoskeletal system. [-]	6 articles	5 matches
autoimmune disease of peripheral nervous system		An autoimmune disease of the nervous system that i..[+] An autoimmune disease of the nervous system 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 peripheral nervous system. [-]	5 articles
autoimmune disease of skin and connective tissue		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 skin and connective tissue. [-]	2 articles	5 matches
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. [-]	28 articles
atypical autism	PDD	An autism spectrum disorder that involves some aut..[+] An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an absence of all the traits necessary for a diagnosis of autism. [-]
aphasia		A language disorder that involves an acquired impa..[+] A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language. [-]
autoimmune disease of urogenital tract		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 urogenital tract. [-]
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
autonomic peripheral neuropathy		n_a
autosomal recessive pyridoxine-refractory sideroblastic anemia 2	autosomal recessive pyridoxine-refractory siderobl.. [+] autosomal recessive pyridoxine-refractory sideroblastic anaemia 2; pyridoxine-refractory autosomal recessive sideroblastic anaemia; pyridoxine-refractory autosomal recessive sideroblastic anemia [-]	A sideroblastic anemia that is characterized by mi..[+] A sideroblastic anemia that is characterized by microcytic hypochromic anemia and iron overload, and has_material_basis_in autosomal recessive inheritance of mutation in the SLC25A38 gene. [-]
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). [-]
akinetopsia		An agnosia that is a loss of motion perception.
alexithymia		An agnosia that is a deficiency in understanding, ..[+] An agnosia that is a deficiency in understanding, processing, or describing emotions. [-]
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. [-]
anosognosia		An agnosia that is a loss of the ability to gain f..[+] An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments. [-]
apperceptive agnosia		An agnosia that is a loss of the ability to distin..[+] An agnosia that is a loss of the ability to distinguish visual shapes. [-]
apraxia		An agnosia that is a loss of the ability to map ou..[+] An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities. [-]	1 articles
associative agnosia		An agnosia that is a loss of the ability to recogn..[+] An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the ability to describe them. [-]
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. [-]
autotopagnosia		An agnosia that is a loss of the ability to orient..[+] An agnosia that is a loss of the ability to orient parts of the body. [-]
astereognosia	somatosensory agnosia	An agnosia that is the loss of the ability to reco..[+] An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight. [-]
acquired metabolic disease		A disease of metabolism that has_material_basis_in..[+] A disease of metabolism that has_material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption. [-]	48 articles
amyotrophic lateral sclerosis type 1	amyotrophic lateral sclerosis 1; ALS1	An amyotrophic lateral sclerosis that has_material..[+] An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SOD1 gene on chromosome 21. The most common type of familial ALS. [-]
amyotrophic lateral sclerosis type 2	amyotrophic lateral sclerosis 2, juvenile; amyotro.. [+] amyotrophic lateral sclerosis 2, juvenile; amyotrophic lateral sclerosis 2; ALS2 [-]	An amyotrophic lateral sclerosis that has_material..[+] An amyotrophic lateral sclerosis that has_material_basis_in mutation in the alsin gene on chromosome 2. [-]
amyotrophic lateral sclerosis type 3	ALS3; amyotrophic lateral sclerosis 3	An amyotrophic lateral sclerosis that has_material..[+] An amyotrophic lateral sclerosis that has_material_basis_in mutation in loci on chromosome 18. [-]
amyotrophic lateral sclerosis type 4	amyotrophic lateral sclerosis 4; amyotrophic later.. [+] amyotrophic lateral sclerosis 4; amyotrophic lateral sclerosis 4, juvenile; ALS 4; dHMN with upper motor neuron signs; distal hereditary motor neuropathy with upper motor neuron signs; distal hereditary motor neuropathy with pyramidal features [-]	An amyotrophic lateral sclerosis with juvenile ons..[+] An amyotrophic lateral sclerosis with juvenile onset that has material basis in mutation in the SETX gene on chromosome 9. [-]
amyotrophic lateral sclerosis type 5	amyotrophic lateral sclerosis 5; ALS5	An amyotrophic lateral sclerosis that has_material..[+] An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21. [-]
amyotrophic lateral sclerosis type 6	autosomal recessive amyotrophic lateral sclerosis .. [+] autosomal recessive amyotrophic lateral sclerosis 6; amyotrophic lateral sclerosis 6, with or without frontotemporal dementia; ALS6 [-]	An amyotrophic lateral sclerosis that has_material..[+] An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FUS gene on chromosome 16. [-]
amyotrophic lateral sclerosis type 7	amyotrophic lateral sclerosis 7; ALS7	An amyotrophic lateral sclerosis that has_material..[+] An amyotrophic lateral sclerosis that has_material_basis_in mutation in loci on chromosome 20. [-]
amyotrophic lateral sclerosis type 9	amyotrophic lateral sclerosis 9; ALS9	An amyotrophic lateral sclerosis that has_material..[+] An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ANG gene on chromosome 14. [-]
amyotrophic lateral sclerosis type 10	amyotrophic lateral sclerosis 10, with or without .. [+] amyotrophic lateral sclerosis 10, with or without frontotemporal dementia; amyotrophic lateral sclerosis 10; ALS10; TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions [-]	An amyotrophic lateral sclerosis that has_material..[+] An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1. [-]
amyotrophic lateral sclerosis type 11	amyotrophic lateral sclerosis 11; ALS11	An amyotrophic lateral sclerosis that has_material..[+] An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FIG4 gene on chromosome 6. [-]
amyotrophic lateral sclerosis type 12	amyotrophic lateral sclerosis 12; ALS12	An amyotrophic lateral sclerosis that has material..[+] An amyotrophic lateral sclerosis that has material basis in mutation in the OPTN gene on chromosome 10. [-]
amyotrophic lateral sclerosis type 13	amyotrophic lateral sclerosis 13; ALS13	An amyotrophic lateral sclerosis where a mutation ..[+] An amyotrophic lateral sclerosis where a mutation that has material basis in the ATXN2 gene on chromosome 12 contributes to suscepitbility. [-]
amyotrophic lateral sclerosis type 15	ALS15; amyotrophic lateral sclerosis 15, with or w.. [+] ALS15; amyotrophic lateral sclerosis 15, with or without frontotemporal dementia; amyotrophic lateral sclerosis 15 [-]	An amyotrophic lateral sclerosis that has material..[+] An amyotrophic lateral sclerosis that has material basis in mutation in the UBQLN2 gene on chromosome X. [-]
amyotrophic lateral sclerosis type 16	amyotrophic lateral sclerosis 16, juvenile; ALS16; .. [+] ALS16; amyotrophic lateral sclerosis 16, juvenile; amyotrophic lateral sclerosis 16 [-]	An amyotrophic lateral sclerosis that has_material..[+] An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SIGMAR1 gene (SETX) on chromosome 9. [-]
amyotrophic lateral sclerosis type 18	ALS18; amyotrophic lateral sclerosis 18	An amyotrophic lateral sclerosis that has material..[+] An amyotrophic lateral sclerosis that has material basis in mutation in the PFN1 gene on chromosome 17. [-]
amyotrophic lateral sclerosis type 19	amyotrophic lateral sclerosis 19; ALS19	An amyotrophic lateral sclerosis that has material..[+] An amyotrophic lateral sclerosis that has material basis in mutation in the ERBB4 gene on chromosome 2. [-]
amyotrophic lateral sclerosis type 20	ALS20; amyotrophic lateral sclerosis 20	An amyotrophic lateral sclerosis with juvenile ons..[+] An amyotrophic lateral sclerosis with juvenile onset that has material basis in mutation in the HNRNPA1 gene on chromosome 12. [-]
amyotrophic lateral sclerosis type 21	ALS21	An amyotrophic lateral sclerosis that has material..[+] An amyotrophic lateral sclerosis that has material basis in mutation in the MATR3 gene on chromosome 5. [-]
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. [-]
atrial fibrillation	AFib; A-fib	A heart conduction disease that is characterized b..[+] A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain. [-]	11 articles
acrofrontofacionasal dysostosis	AFFN dysostosis; Richieri-Costa-Colletto syndrome; .. [+] AFFN dysostosis; Richieri-Costa-Colletto syndrome [-]	A dysostosis characterized by intellectual disabil..[+] A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure. [-]
Adams-Oliver syndrome	Adams Oliver syndrome	A syndrome characterized by defects of the scalp (..[+] A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs. [-]
autosomal dominant chondrodysplasia punctata		n_a
autosomal dominant intellectual developmental disorder	autosomal dominant non-syndromic mental retardatio.. [+] autosomal dominant non-syndromic mental retardation; autosomal dominant mental retardation [-]	A intellectual disability characterized by an auto..[+] A intellectual disability characterized by an autosomal dominant inheritance pattern. [-]	4 articles	6 matches
autosomal recessive intellectual developmental disorder	autosomal recessive non-syndromic mental retardati.. [+] autosomal recessive non-syndromic mental retardation; autosomal recessive mental retardation [-]	A intellectual disability characterized by an auto..[+] A intellectual disability characterized by an autosomal recessive inheritance pattern. [-]	1 articles

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