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Disease	Synonyms	Description
autosomal recessive spinocerebellar ataxia 10	SCAR10	n_a
autoimmune disease of central nervous system		An autoimmune disease of the central nervous syste..[+] An autoimmune disease of the central nervous system. [-]
autoimmune disease of endocrine system		An autoimmune disease that is the abnormal functio..[+] An autoimmune disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system. [-]
agammaglobulinemia 4	B-cell linker protein deficiency; BLNK deficiency; .. [+] B-cell linker protein deficiency; BLNK deficiency; B cell linker protein deficiency [-]	An agammaglobulinemia that has_material_basis_in a..[+] An agammaglobulinemia that has_material_basis_in a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2. [-]
autoimmune disease of exocrine system		An immune system disease that is the abnormal func..[+] An immune system 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 exocrine system. [-]
autoimmune disease of eyes, ear, nose and throat		A hypersensitivity reaction type II disease of the..[+] A hypersensitivity reaction type II disease of the eyes, ears, nose and throat. [-]
autoimmune disease of gastrointestinal tract		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 gastrointestinal tract. [-]
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. [-]
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. [-]
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. [-]
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. [-]
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		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 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. [-]
autonomic peripheral neuropathy		n_a
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. [-]
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 abilty 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_i..[+] 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. [-]
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	amyotrophic lateral sclerosis 3; ALS3	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, juvenile; amyotro.. [+] amyotrophic lateral sclerosis 4, juvenile; amyotrophic lateral sclerosis 4; ALS 4; dHMN with upper motor neuron signs; distal hereditary motor neuropathy with pyramidal features; distal hereditary motor neuropathy with upper motor neuron signs [-]	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 14	amyotrophic lateral sclerosis, with or without fro.. [+] amyotrophic lateral sclerosis, with or without frontotemporal dementia; amyotrophic lateral sclerosis 14; ALS14 [-]	An amyotrophic lateral sclerosis that has material..[+] An amyotrophic lateral sclerosis that has material basis in mutation in the VCP gene on chromosome 9. [-]
amyotrophic lateral sclerosis type 15	amyotrophic lateral sclerosis 15, with or without .. [+] amyotrophic lateral sclerosis 15, with or without frontotemporal dementia; amyotrophic lateral sclerosis 15; ALS15 [-]	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; amyotr.. [+] amyotrophic lateral sclerosis 16, juvenile; amyotrophic lateral sclerosis 16; ALS16 [-]	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 17	ALS17; amyotrophic lateral sclerosis 17; CHMP2B-re.. [+] amyotrophic lateral sclerosis 17; ALS17; CHMP2B-related amyotrophic lateral sclerosis [-]	An amyotrophic lateral sclerosis that has material..[+] An amyotrophic lateral sclerosis that has material basis in mutation in the CHMP2B gene on chromosome 3. [-]
amyotrophic lateral sclerosis type 18	amyotrophic lateral sclerosis 18; ALS18	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	amyotrophic lateral sclerosis 20; ALS20	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. [-]

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