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Disease	Synonyms	Description	Articles
arrhythmogenic right ventricular dysplasia 11	arrhythmogenic right ventricular cardiomyopathy 11.. [+] arrhythmogenic right ventricular cardiomyopathy 11; ARVD11; ARVC11; familial arrhythmogenic right ventricular dysplasia 11; [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmocollin-2 gene (DSC2) on chromosome 18q. [-]
arrhythmogenic right ventricular dysplasia 12	ARVD12; familial arrhythmogenic right ventricular .. [+] ARVD12; familial arrhythmogenic right ventricular dysplasia 12; arrhythmogenic right ventricular cardiomyopathy 12; ARVC12; [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding junction plakoglobin (JUP) on chromosome 17q21. [-]
arrhythmogenic right ventricular dysplasia 13	ARVC13; ARVD13; familial arrhythmogenic right vent.. [+] ARVC13; ARVD13; familial arrhythmogenic right ventricular dysplasia 13; arrhythmogenic right ventricular cardiomyopathy 13; [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the CTNNA3 gene on chromosome 10q21. [-]
arrhythmogenic right ventricular dysplasia 14		An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that characterized by palpitations, chest pain, and presyncope and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12. [-]
arrhythmogenic right ventricular dysplasia 3	arrhythmogenic right ventricular cardiomyopathy 3;.. [+] arrhythmogenic right ventricular cardiomyopathy 3; ARVC3; ARVD3; familial arrhythmogenic right ventricular dysplasia 3; [-]	An arrhythmogenic right ventricular dysplasia asso..[+] An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22. [-]
arrhythmogenic right ventricular dysplasia 4	fanilial arrhythmogenic right ventricular dysplasi.. [+] fanilial arrhythmogenic right ventricular dysplasia 4; arrhythmogenic right ventricular cardiomyopathy 4; ARVC4; ARVD4; familial arrhythmogenic right ventricular dysplasia 4; [-]	An arrhythmogenic right ventricular dysplasia asso..[+] An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3. [-]
arrhythmogenic right ventricular dysplasia 5	ARVC5; familial arrhythmogenic right ventricular d.. [+] ARVC5; familial arrhythmogenic right ventricular dysplasia 5; arrhythmogenic right ventricular cardiomyopathy 5; ARVD5; [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25. [-]
arrhythmogenic right ventricular dysplasia 6	arrhythmogenic right ventricular cardiomyopathy 6;.. [+] arrhythmogenic right ventricular cardiomyopathy 6; ARVD6; familial arrhythmogenic right ventricular dysplasia 6; ARVC6; [-]	An arrhythmogenic right ventricular dysplasia asso..[+] An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12. [-]
arrhythmogenic right ventricular dysplasia 8	ARVD8; familial arrhythmogenic right ventricular d.. [+] ARVD8; familial arrhythmogenic right ventricular dysplasia 8; ARVC8; arrhythmogenic right ventricular cardiomyopathy 8; [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding desmoplakin (DSP) on chromosome 6p24. [-]
arrhythmogenic right ventricular dysplasia 9	ARVC9; familial arrhythmogenic right ventricular d.. [+] ARVC9; familial arrhythmogenic right ventricular dysplasia 9; arrhythmogenic right ventricular cardiomyopathy 9; ARVD9; [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutations in the PKP2 gene on chromosome 12p11. [-]
arterial calcification of infancy	generalized arterial calcification of infancy; idi.. [+] generalized arterial calcification of infancy; idiopathic infantile arterial calcification; infantile arteriosclerosis; [-]	A vascular disease that is characterized by genera..[+] A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall. [-]
arterial tortuosity syndrome		A connective tissue disease that is characterized ..[+] A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta. [-]
arteriolosclerosis	Arteriolosclerosis (morphologic abnormality); Arte.. [+] Arteriolosclerosis (morphologic abnormality); Arteriolosclerosis; [-]	An arteriosclerosis that is characterized by thick..[+] An arteriosclerosis that is characterized by thickening of the wall of the small arteries and arterioles, caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy, and results in lumen narrowing and tissue ischemia. [-]
arteriosclerosis	Arteriosclerosis (morphologic abnormality); Arteri.. [+] Arteriosclerosis (morphologic abnormality); Arteriosclerosis NOS; Arteriosclerotic vascular disease (disorder); Arteriosclerotic vascular disease NOS; Arteriosclerosis; Arteriosclerotic vascular disease; [-]	An artery disease that is characterized by a thick..[+] An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries. [-]
arteriosclerosis obliterans	Arteriosclerosis obliterans (disorder); Arterioscl.. [+] Arteriosclerosis obliterans (disorder); Arteriosclerosis obliterans (disorder) [Ambiguous]; Arteriosclerosis obliterans; [-]	n_a
arteriosclerotic cardiovascular disease	Arteriosclerotic Cardiovascular disease; Arteriosc.. [+] Arteriosclerotic Cardiovascular disease; Arteriosclerotic cardiovascular disease; Arteriosclerotic cardiovascular disease, NOS; Atherosclerotic cardiovascular disease; Cardiovascular arteriosclerosis unspecified (disorder); Atherosclerotic Cardiovascular disease; Cardiovascular arteriosclerosis; [-]	n_a
arteriovenous malformation	Arteriovenous hemangioma (disorder); Racemose hema.. [+] Arteriovenous hemangioma (disorder); Racemose hemangioma (morphologic abnormality); Racemose aneurysm (morphologic abnormality); Arteriovenous hemangioma; Racemose aneurysm; Racemose hemangioma; Cirsoid aneurysm; Racemose Angioma; [-]	A hemangioma that is characterized by a configurat..[+] A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system. [-]
arteriovenous malformations of the brain	cerebral arteriovenous malformation; intracranial .. [+] cerebral arteriovenous malformation; intracranial arteriovenous malformation; [-]	A central nervous system benign neoplasm that deri..[+] A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain. [-]
arteritic anterior ischemic optic neuropathy		An anterior ischemic optic neuropathy that is char..[+] An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by damage to the medium-sized blood vessels supplying the optic nerves following temporal arteritis. [-]
artery disease		A vascular disease that is located_in an artery.
arthritis	Inflammatory disorder of joint;	A bone inflammation disease that involves a respon..[+] A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint. [-]
arthrogryposis multiplex congenita		A nervous system disease that is characterized by ..[+] A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth. [-]
arthrogryposis multiplex congenita-1		An arthrogryposis multiplex congenita that has_mat..[+] An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the LGI4 gene on chromosome 19q13. [-]
arthrogryposis multiplex congenita-3		An arthrogryposis multiplex congenita that is char..[+] An arthrogryposis multiplex congenita that is characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SYNE1 gene on chromosome 6q25. [-]
arthrogryposis multiplex congenita-4	Zain syndrome;	An arthrogryposis multiplex congenita that has_mat..[+] An arthrogryposis multiplex congenita that has_material_basis_in homozygous mutation in the SCYL2 gene on chromosome 12q23. [-]
arthrogryposis multiplex congenita-5		An arthrogryposis multiplex congenita that has_mat..[+] An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the TOR1A gene on chromosome 9q34. [-]
arthrogryposis multiplex congenita-6		An arthrogryposis multiplex congenita characterize..[+] An arthrogryposis multiplex congenita characterized by congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops and that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. [-]
arthrogryposis, renal dysfunction, and cholestasis 1	ARCS1;	An arthrogryposis, renal dysfunction, and cholesta..[+] An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VPS33B on 15q26.1. [-]
arthrogryposis, renal dysfunction, and cholestasis 2	ARCS2;	An arthrogryposis, renal dysfunction, and cholesta..[+] An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3. [-]
arthropathy	Ankylosis of joint of ankle and/or foot (disorder).. [+] Ankylosis of joint of ankle and/or foot (disorder); Ankylosis of joint of forearm (disorder); Ankylosis of joint of hand (disorder); Ankylosis of joint of multiple sites (disorder); Ankylosis of joint of upper arm (disorder); Joint ankylosis of the ankle and/or foot (disorder); Joint ankylosis of the forearm (disorder); Joint ankylosis of the lower leg (disorder); Joint ankylosis of the shoulder region (disorder); Joint ankylosis of the upper arm (disorder); ankylosis of forearm joint; ankylosis of hand joint; ankylosis of joint of multiple sites; ankylosis of joint of pelvic region and thigh; ankylosis of lower leg joint; ankylosis of upper arm joint; Joint ankylosis of the ankle and foot; Joint ankylosis of the forearm; Joint ankylosis of the hand; Joint ankylosis of the lower leg; Ankylosis of joint of lower leg (disorder); Ankylosis of joint of shoulder region (disorder); Joint ankylosis of the pelvic region and thigh (disorder); Ankylosis of joint of multiple sites; Ankylosis of joint of shoulder region; ankylosis of ankle and foot joint; Ankylosis of joint of ankle and/or foot; Ankylosis of joint of forearm; Ankylosis of joint of hand; Ankylosis of multiple joints; Ankylosis of joint of lower leg; ankylosis of joint of shoulder region; Ankylosis of joint of upper arm; Joint ankylosis of the pelvic region and thigh; Infectious arthropathy; Joint ankylosis of the ankle and/or foot; Joint ankylosis of the shoulder region; Joint ankylosis of the upper arm; [-]	A bone disease that is located_in the joint.
arthus reaction	Arthus reaction (function); Arthus type urticaria;.. [+] Arthus reaction (function); Arthus type urticaria; Arthus phenomenon; Arthus reaction; Arthus Phenomenon; [-]	A hypersensitivity reaction type III disease that ..[+] A hypersensitivity reaction type III disease that is characterized by local vasculitis, has_symptom pain, edema, hemorrhage, or necrosis, and has_material_basis_in deposition of antigen-antibody immune complexes in vascular or serosal walls. [-]
articular cartilage disease		A cartilage disease that is characterized by damag..[+] A cartilage disease that is characterized by damage to the cartilage that covers the ends of the bones. [-]
articulation disorder	Articulation impairment; Phonological disorder;	A speech disorder that involves mispronouncing spe..[+] A speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand. [-]
Arts syndrome	ARTS; fatal X-linked ataxia with deafness and loss.. [+] ARTS; fatal X-linked ataxia with deafness and loss of vision; Lethal ataxia with deafness and optic atrophy; MRXS18; MRXSARTS; syndromic X-linked mental retardation 18; syndromic X-linked mental retardation Arts type; [-]	An X-linked disease that is characterized by profo..[+] An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene. [-]
aryepiglottic fold cancer	malignant tumor aryepiglottic fold - hypopharyngea.. [+] malignant tumor aryepiglottic fold - hypopharyngeal aspect (disorder); malignant neoplasm of hypopharyngeal aspect of aryepiglottic fold; malignant tumor aryepiglottic fold - hypopharyngeal aspect; [-]	n_a
asbestosis		A pneumoconiosis caused by inhalation and retentio..[+] A pneumoconiosis caused by inhalation and retention of asbestos fibers. [-]	1 articles
asbestos-related lung carcinoma		n_a	1 articles
ascariasis	Ascariasis - roundworm; Ascaris lumbricoides infec.. [+] Ascariasis - roundworm; Ascaris lumbricoides infection; [-]	A parasitic helminthiasis infectious disease that ..[+] A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation. [-]
ascaridiasis		A parasitic helminthiasis infectious disease that ..[+] A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia. [-]
ascending cholangitis	Ascending Cholangitis; Ascending cholangitis (diso.. [+] Ascending Cholangitis; Ascending cholangitis (disorder); Ascending cholangitis; [-]	n_a
ascending colon cancer	Ca ascending colon (disorder); malignant tumor of .. [+] Ca ascending colon (disorder); malignant tumor of ascending colon (disorder); malignant neoplasm of right colon; malignant tumor of ascending colon; Ca ascending colon; [-]	n_a
aseptic meningitis	Aseptic meningitis; Aseptic meningitis (disorder);.. [+] Aseptic meningitis; Aseptic meningitis (disorder); acute aseptic meningitis; [-]	A meningitis that is characterized by meningeal in..[+] A meningitis that is characterized by meningeal inflammation not caused by an identifiable bacterial pathogen in the cerebrospinal fluid. A large majority of them are caused by enteroviruses. [-]
Askin's tumor	Askin's tumour; Askin tumor; Askin tumour;	An Ewing sarcoma that arises from the soft tissues..[+] An Ewing sarcoma that arises from the soft tissues of the chest wall that tend to recur locally and not widely disseminated. [-]
aspartylglucosaminuria	ASPARTYLGLUCOSAMINIDASE DEFICIENCY; aspartylglycos.. [+] ASPARTYLGLUCOSAMINIDASE DEFICIENCY; aspartylglycosaminuria; GLYCOSYLASPARAGINASE DEFICIENCY; glycosylasparaginase deficiency; aspartylglucosaminidase deficiency; [-]	A lysosomal storage disease that is characterized ..[+] A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins. [-]
Asperger syndrome		An autism spectrum disorder that is characterized ..[+] An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development. [-]
aspergillosis	Infection due to Aspergillus;	An opportunistic mycosis that involves a spectrum ..[+] An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system. [-]
asphyxia neonatorum	Birth asphyxia; Asphyxia - birth; Asphyxia, in liv.. [+] Birth asphyxia; Asphyxia - birth; Asphyxia, in liveborn infant; postnatal asphyxia; [-]	A respiratory system disease that is characterized..[+] A respiratory system disease that is characterized by deprivation of oxygen to a newborn infant that lasts long enough during the birth process to cause physical harm, usually to the brain. [-]
asphyxiating thoracic dystrophy	Jeune syndrome; short-rib thoracic dysplasia with .. [+] Jeune syndrome; short-rib thoracic dysplasia with or without polydactyly; thoracic pelvic phalangeal dystrophy; [-]	A bone development disease characterized by skelet..[+] A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy. [-]	1 articles
asphyxiating thoracic dystrophy 1	ATD1; SRTD1; short-rib thoracic dysplasia 1 with o.. [+] ATD1; SRTD1; short-rib thoracic dysplasia 1 with or without polydactyly; [-]	An asphyxiating thoracic dystrophy associated with..[+] An asphyxiating thoracic dystrophy associated with variation in the region 15q13. [-]
asphyxiating thoracic dystrophy 2	short-rib thoracic dysplasia 2 with or without pol.. [+] short-rib thoracic dysplasia 2 with or without polydactyly ; ATD2; SRTD2; short-rib thoracic dysplasia 2 with or without polydactyly; [-]	An asphyxiating thoracic dystrophy that has_materi..[+] An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25. [-]

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