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Disease	Synonyms	Description	Articles
autosomal recessive spinocerebellar ataxia 11	SCAR11;	An autosomal recessive cerebellar ataxia that has_..[+] An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the SYT14 gene on chromosome 1q32. [-]
autosomal recessive spinocerebellar ataxia 12	SCAR12;	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that has_material_basis_in homozygous mutation in the WWOX gene on chromosome 16q23. [-]
autosomal recessive spinocerebellar ataxia 13	SCAR13;	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development beginning in infancy and that has_material_basis_in homozygous mutation in the GRM1 gene on chromosome 6q24. [-]
autosomal recessive spinocerebellar ataxia 14	SCAR14;	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability and that has_material_basis_in homozygous mutation in the SPTBN2 gene on chromosome 11q13. [-]
autosomal recessive spinocerebellar ataxia 15	SCAR15;	An autosomal recessive cerebellar ataxia that has_..[+] An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the RUBCN gene on chromosome 3q29. [-]
autosomal recessive spinocerebellar ataxia 16	SCAR16;	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has_material_basis_in homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13. [-]
autosomal recessive spinocerebellar ataxia 17	SCAR17;	An autosomal recessive cerebellar ataxia that has_..[+] An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CWF19L1 gene on chromosome 10q24. [-]
autosomal recessive spinocerebellar ataxia 18	SCAR18;	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in the GRID2 gene on chromosome 4q22. [-]
autosomal recessive spinocerebellar ataxia 19	Lichtenstein-Knorr syndrome; SCAR19;	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia and that has_material_basis_in homozygous mutation in the SLC9A1 gene on chromosome 1p36. [-]
autosomal recessive spinocerebellar ataxia 2	SCAR2;	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has_material_basis_in homozygous or compound heterozygous mutation in the senataxin gene on chromosome 9q34. [-]
autosomal recessive spinocerebellar ataxia 20	SCAR20;	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SNX14 gene on chromosome 6q14. [-]
autosomal recessive spinocerebellar ataxia 21	acute infantile liver failure-cerebellar ataxia-pe.. [+] acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; autosomal recessive spinocerebellar ataxia 21 with hepatopathy; SCAR21; [-]	An autosomal recessive cerebellar ataxia that has_..[+] An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13. [-]
autosomal recessive spinocerebellar ataxia 22	SCAR22;	An autosomal recessive cerebellar ataxia that has_..[+] An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the VWA3B gene on chromosome 2q11.2. [-]
autosomal recessive spinocerebellar ataxia 23	SCAR23; autosomal recessive cerebellar ataxia-epil.. [+] SCAR23; autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency; [-]	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the TDP2 gene on chromosome 6p22.3. [-]
autosomal recessive spinocerebellar ataxia 24	SCAR24;	An autosomal recessive cerebellar ataxia that has_..[+] An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.1. [-]
autosomal recessive spinocerebellar ataxia 25	SCAR25;	An autosomal recessive cerebellar ataxia that has_..[+] An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the ATG5 gene on chromosome 6q21. [-]
autosomal recessive spinocerebellar ataxia 26	SCAR26;	An autosomal recessive cerebellar ataxia that has_..[+] An autosomal recessive cerebellar ataxia that has_material_basis_in compound heterozygous mutation in the XRCC1 gene on chromosome 19q13. [-]
autosomal recessive spinocerebellar ataxia 27	SCAR27;	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP2 gene on chromosome 1p12. [-]
autosomal recessive spinocerebellar ataxia 28	SCAR28;	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor movements, and dysarthria that has_material_basis_in homozygous mutation in the THG1L gene on chromosome 5q33. [-]
autosomal recessive spinocerebellar ataxia 29	SCAR29;	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the VPS41 gene on chromosome 7p14. [-]
autosomal recessive spinocerebellar ataxia 3	autosomal recessive spinocerebellar ataxia type 3;.. [+] autosomal recessive spinocerebellar ataxia type 3; autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome; autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome; SCABD; SCAR3; [-]	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21. [-]
autosomal recessive spinocerebellar ataxia 30	SCAR30;	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia that has_material_basis_in homozygous mutation in the PITRM1 gene on chromosome 10p15. [-]
autosomal recessive spinocerebellar ataxia 31	SCAR31;	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by global developmental delay with hypotonia and variably impaired intellectual and language development that has_material_basis_in homozygous or compound heterozygous mutation in the ATG7 gene on chromosome 3p25. [-]
autosomal recessive spinocerebellar ataxia 32	SCAR32;	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by onset of gait ataxia in the second or third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the PRDX3 gene on chromosome 10q26. [-]
autosomal recessive spinocerebellar ataxia 33	SCAR33;	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by delayed motor development apparent in infancy, unsteady ataxic gait, intention tremor, nystagmus, and speech delay with dysarthria that has_material_basis_in homozygous mutation in the RNU12 gene on chromosome 22q13. [-]
autosomal recessive spinocerebellar ataxia 4	autosomal recessive cerebellar ataxia-saccadic int.. [+] autosomal recessive cerebellar ataxia-saccadic intrusion syndrome; SCAR4; SCASI; spinocerebellar ataxia 24; SCA24; spinocerebellar ataxia with saccadic intrusions; [-]	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13D gene on chromosome 1p36.22-p36.21. [-]
autosomal recessive spinocerebellar ataxia 6	autosomal recessive spinocerebellar ataxia type 6;.. [+] autosomal recessive spinocerebellar ataxia type 6; infantile-onset autosomal recessive nonprogressive cerebellar ataxia; SCAR6; [-]	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 20q11-q13. [-]
autosomal recessive spinocerebellar ataxia 7	SCAR7;	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has_material_basis_in compound heterozygous mutation in the TPP1 gene on chromosome 11p15. [-]
autosomal recessive spinocerebellar ataxia 8	ARCA1; autosomal recessive ataxia, Beauce type; Au.. [+] ARCA1; autosomal recessive ataxia, Beauce type; Autosomal recessive cerebellar ataxia type 1; recessive ataxia of Beauce; SCAR8; SYNE1-related autosomal recessive cerebellar ataxia; [-]	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2. [-]
autosomal recessive thrombophilia due to protein C deficiency	autosomal recessive PROC deficiency; autosomal rec.. [+] autosomal recessive PROC deficiency; autosomal recessive protein C deficiency; THPH4; [-]	A protein C deficiency characterized by typically ..[+] A protein C deficiency characterized by typically early onset of venous thrombosis although in some cases it may have a milder, later onset that has_material_basis_in homozygous or compound heterozygous mutation in the PROC gene on chromosome 2q14.3. [-]
autosomal recessive thrombophilia due to protein S deficiency	autosomal recessive thrombophilia due to congenita.. [+] autosomal recessive thrombophilia due to congenital protein S deficiency; severe hereditary thrombophilia due to congenital protein S deficiency; THPH6; [-]	A protein S deficiency characterized by thrombosis..[+] A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the PROS1 gene on chromosome 3q11.1. [-]
autosomal recessive type IV Ehlers-Danlos syndrome	Ehlers-Danlos syndrome, recessive type 4 (disorder.. [+] Ehlers-Danlos syndrome, recessive type 4 (disorder); Ehlers-Danlos syndrome, recessive type 4; [-]	An Ehlers-Danlos syndrome that is characterized by..[+] An Ehlers-Danlos syndrome that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits. [-]
autosomal recessive woolly hair 3	ARWH3;	A familial woolly hair syndrome that has_material_..[+] A familial woolly hair syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KRT24 gene on chromosome 17q21.2. [-]
autosomal-mitochondrial sensorineural deafness		A sensorineural hearing loss characterized by prog..[+] A sensorineural hearing loss characterized by progressive, severe to profound deafness that has_material_basis_in digenic inheritance of mutations in the mitochondrial gene MTRNR1 and an unidentified nuclear gene. [-]
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. [-]
avian influenza	avian flu; bird flu;	An influenza that results in infection located in ..[+] An influenza that results in infection located in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress. [-]
avoidant personality disorder	anxious personality disorder;	A personality disorder that is characterized by a ..[+] A personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction. [-]
axial osteomalacia		An osteosclerosis that results_in coarsening locat..[+] An osteosclerosis that results_in coarsening located_in trabecular bone. [-]
axial spondylometaphyseal dysplasia	SMD axial; SMDAX;	A spondylometaphyseal dysplasia characterized by p..[+] A spondylometaphyseal dysplasia characterized by postnatal growth failure, metaphyseal changes of truncal-juxtatruncal bones, and retinal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP410 gene on chromosome 21q22.3. [-]
axillary adenitis		n_a
axillary lipoma	Lipoma of axilla;	An thoracic benign neoplasm that is located_in the..[+] An thoracic benign neoplasm that is located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue. [-]
axonal neuropathy		n_a	1 articles
azoospermia	spermatogenic failure;	A male infertility disease characterized by the ab..[+] A male infertility disease characterized by the absence of any measurable level of sperm in semen. [-]
aztreonam allergy	Azactam allergy; Primbactam allergy;	A beta-lactam allergy that has_allergic_trigger az..[+] A beta-lactam allergy that has_allergic_trigger aztreonam. [-]
babesiosis	Infection by babesia; piroplasmosis; Babesiasis;	A parasitic protozoa infectious disease that has_s..[+] A parasitic protozoa infectious disease that has_symptom mild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease. [-]
bacillary angiomatosis		A bartonellosis that has_material_basis_in Bartone..[+] A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs. [-]
background diabetic retinopathy	Non-Proliferative Diabetic Retinopathy; Non prolif.. [+] Non-Proliferative Diabetic Retinopathy; Non proliferative diabetic retinopathy; [-]	n_a
bacterial conjunctivitis	Purulent conjunctivitis;	n_a
bacterial esophagitis		n_a
bacterial exanthem		An exanthem that is characterized by a diffuse, re..[+] An exanthem that is characterized by a diffuse, reddened, blanchable, finely papular, sandpaper like rash due to infection by group A streptococcus and the production of an erythrogenic toxin. [-]

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