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Disease	Synonyms	Description	Articles
COVID-19	2019 Novel Coronavirus (2019-nCoV); 2019-nCoV infe.. [+] 2019 Novel Coronavirus (2019-nCoV); 2019-nCoV infection; Wuhan coronavirus infection; Wuhan seafood market pneumonia virus infection; COVID19; SARS-CoV-2 infection; [-]	A Coronavirus infectious disease that is character..[+] A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2. [-]
COX deficiency, benign infantile mitochondrial myopathy	Isolated cytochrome C oxidase deficiency;	A cytochrome-c oxidase deficiency disease characte..[+] A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles. [-]
COX deficiency, infantile mitochondrial myopathy	fatal infantile cytochrome C oxidase deficiency; f.. [+] fatal infantile cytochrome C oxidase deficiency; fatal infantile encephalocardiomyopathy; cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency; fatal infantile COX deficiency; fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency; [-]	A cytochrome-c oxidase deficiency disease characte..[+] A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis. [-]
CREST syndrome		A syndrome characterized by calcinosis, Raynaud's ..[+] A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia. [-]
CSF1R-related brain malformation and osteopetrosis	osteoporosis and infantile neuroaxonal dystrophy;	A neuroaxonal dystrophy that has_material_basis_in..[+] A neuroaxonal dystrophy that has_material_basis_in heterozygous mutations in CSF1R and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment and seizures in the fourth to fifth decade of life. [-]
CST3-related cerebral amyloid angiopathy	Amyloidosis VI; Amyloidosis, Cerebroarterial, Icel.. [+] Amyloidosis VI; Amyloidosis, Cerebroarterial, Icelandic Type; Cerebral Hemorrhage, Hereditary, with Amyloidosis; HCHWA; Hereditary Cerebral Hemorrhage with Amyloidosis; Cerebral Hemorrhage, Hereditary, with Amyloidosis, Icelandic Variant; Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Variant; [-]	A cerebral amyloid angiopathy that has_material_ba..[+] A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of the CST3 gene on chromosome 20p11.21. [-]
Caffey disease	infantile cortical hyperostosis; cortical congenit.. [+] infantile cortical hyperostosis; cortical congenital hyperostosis; [-]	A bone inflammation disease that causes bone chang..[+] A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability. [-]
Camurati-Engelmann disease	Engelman's disease; progressive diaphyseal dysplas.. [+] Engelman's disease; progressive diaphyseal dysplasia; Diaphyseal dysplasia; [-]	An osteosclerosis that has_material_basis_in mutat..[+] An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone. [-]
Canavan disease	CANAVAN-VAN BOGAERT-BERTRAND DISEASE; Spongy degen.. [+] CANAVAN-VAN BOGAERT-BERTRAND DISEASE; Spongy degeneration of central nervous system; ACY2 DEFICIENCY; AMINOACYLASE 2 DEFICIENCY; ASP DEFICIENCY; ASPA DEFICIENCY; ASPARTOACYLASE DEFICIENCY; [-]	A leukodystrophy characterized by onset in early i..[+] A leukodystrophy characterized by onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average that has_material_basis_in homozygous or compound heterozygous mutation in ASPA gene encoding aspartoacylase on chromosome 17p13. [-]
Capgras syndrome	Capgras delusion theory;	A delusional disorder in which a person holds a de..[+] A delusional disorder in which a person holds a delusion that a friend, spouse, parent, or other close family member has been replaced by an identical-looking impostor. [-]
Caplan's syndrome	Caplan syndrome; Caplans syndrome; Rheumatoid pneu.. [+] Caplan syndrome; Caplans syndrome; Rheumatoid pneumoconiosis; Caplan's disease; [-]	A pneumoconiosis that results_in humans that also ..[+] A pneumoconiosis that results_in humans that also have rheumatoid arthritis. [-]
Carey-Fineman-Ziter syndrome		A syndrome characterized by hypotonia, Moebius seq..[+] A syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. [-]
Carney complex	Carney Complex, Type 2; Carney Syndrome; NAME Synd.. [+] Carney Complex, Type 2; Carney Syndrome; NAME Syndrome; Carney Complex, Type 1; LAMB Syndrome; Carney complex variant; [-]	A syndrome characterized by myxomas, spotty pigmen..[+] A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. [-]
Carney-Stratakis syndrome		A syndrome that is characterized by the presence o..[+] A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors. [-]
Caroli disease		A bile duct disease that is characterized by abnor..[+] A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts. [-]
Caroli syndrome		A syndrome that is characterized by the presence o..[+] A syndrome that is characterized by the presence of associated congenital hepatic fibrosis and that is associated with autosomal recessive polycystic kidney disease. [-]
Carpenter syndrome	acrocephalopolysyndactyly type II;	An acrocephalosyndactylia characterized by cranios..[+] An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. [-]
Carrion's disease	Carrion disease; Oroya fever;	A bartonellosis that results_in infection located_..[+] A bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed. [-]
Carvajal syndrome	Carvajal syndrome; palmoplantar keratoderma with l.. [+] Carvajal syndrome; palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair; DCWHK; dilated cardiomyopathy with woolly hair and keratoderma; [-]	A Naxos disease that is characterized by dilated c..[+] A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24. [-]
Castleman disease	angiofollicular lymph hyperplasia; angiofollicular.. [+] angiofollicular lymph hyperplasia; angiofollicular lymph node hyperplasia; giant lymph node hyperplasia; lymphoid hamartoma; [-]	A lymphoproliferative syndrome characterized by on..[+] A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically. [-]
Catel Manzke syndrome	Hyperphalangy-clinodactyly of index finger with Pi.. [+] Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Micrognathia digital syndrome; [-]	A bone disease that is characterized by the Pierre..[+] A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32. [-]
Cauda equina syndrome		A peripheral nervous system disease that involves ..[+] A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord. [-]
Cayman type cerebellar ataxia	Cayman cerebellar ataxia;	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the ATCAY gene on chromosome 19p13.3. [-]
Cenani-Lenz syndactyly syndrome	syndactyly type 7;	A dysostosis characterized by syndactyly, malforma..[+] A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11. [-]
Chagas disease	Chagas' disease; chagas' disease with other organ .. [+] Chagas' disease; chagas' disease with other organ involvement; American trypanosomiasis; chagas' disease with digestive system involvement; chagas' disease with nervous system involvement; [-]	A trypanosomiasis that is a tropical parasitic dis..[+] A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis. [-]
Chanarin-Dorfman syndrome	Chanarin-Dorfman syndrome; neutral lipid storage d.. [+] Chanarin-Dorfman syndrome; neutral lipid storage disease; [-]	A lipid storage disease that is characterized by a..[+] A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues. [-]
Chandler syndrome	Chandler's syndrome (disorder); Dystrophy of corne.. [+] Chandler's syndrome (disorder); Dystrophy of corneal endothelium; Endothelial corneal dystrophy; Posterior membrane corneal dystrophy; Chandler's syndrome; [-]	A corneal dystrophy that is characterized by corne..[+] A corneal dystrophy that is characterized by corneal edema, iris atrophy, and secondary angle-closure glaucoma caused by an inflammatory or infectious insult that causes the endothelium to fail to pump aqueous humor from the cornea, leading to fluid accumulation, microcystic edema, and angle-closure glaucoma. [-]
Chapare hemorrhagic fever		A viral infectious disease that is a hemorrhagic f..[+] A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus chapareense. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom shock, and has symptom bleeding. [-]
Char syndrome		A patent ductus arteriosus with facial dysmorphism..[+] A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits. [-]
Charcot-Marie-Tooth disease	Charcot Marie Tooth muscular atrophy; CMT - Charco.. [+] Charcot Marie Tooth muscular atrophy; CMT - Charcot-Marie-Tooth disease; Peroneal muscular atrophy; [-]	A neuromuscular disease that is characterized by a..[+] A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm. [-]	7 articles
Charcot-Marie-Tooth disease X-linked dominant 1	Charcot-Marie-Tooth neuropathy X-linked dominant 1.. [+] Charcot-Marie-Tooth neuropathy X-linked dominant 1; CMT1X; CMTX1; X-linked Charcot-Marie-Tooth disease type 1; [-]	A Charcot-Marie-Tooth disease X-linked that has_ma..[+] A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13. [-]	1 articles
Charcot-Marie-Tooth disease X-linked dominant 6	Charcot-Marie-Tooth neuropathy X-linked dominant 6.. [+] Charcot-Marie-Tooth neuropathy X-linked dominant 6; CMT6X; CMTX6; X-linked Charcot-Marie-Tooth disease type 6; [-]	A Charcot-Marie-Tooth disease X-linked that has_ma..[+] A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the PDK3 gene on chromosome Xp22. [-]
Charcot-Marie-Tooth disease X-linked recessive 2	Charcot-Marie-Tooth neuropathy X-linked recessive .. [+] Charcot-Marie-Tooth neuropathy X-linked recessive 2; X-linked Charcot-Marie-Tooth disease type 2; CMTX2; [-]	A Charcot-Marie-Tooth disease X-linked that has_ma..[+] A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xp22.2. [-]
Charcot-Marie-Tooth disease X-linked recessive 3	Charcot-Marie-Tooth neuropathy X-linked recessive .. [+] Charcot-Marie-Tooth neuropathy X-linked recessive 3; CMT3X; CMTX3; X-linked Charcot-Marie-Tooth disease type 3; [-]	A Charcot-Marie-Tooth disease X-linked that has_ma..[+] A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xq26. [-]
Charcot-Marie-Tooth disease X-linked recessive 4	axonal motor sensory neuropathy with deafness and .. [+] axonal motor sensory neuropathy with deafness and mental retardation; Charcot-Marie-Tooth disease with deafness and mental retardation; CMTX4; Cowchock syndrome; NADMR; NAMSD; CMT4X; COWCK; X-linked Charcot-Marie-Tooth disease type 4; [-]	A Charcot-Marie-Tooth disease X-linked that has_ma..[+] A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26. [-]
Charcot-Marie-Tooth disease X-linked recessive 5	Charcot-Marie-Tooth neuropathy X-linked recessive .. [+] Charcot-Marie-Tooth neuropathy X-linked recessive 5; CMT5X; optic atrophy, polyneuropathy, and deafness; X-linked Charcot-Marie-Tooth disease type 5; CMTX5; Rosenberg-Chutorian syndrome; [-]	A Charcot-Marie-Tooth disease X-linked that has_ma..[+] A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22. [-]
Charcot-Marie-Tooth disease axonal type 2C	autosomal dominant Charcot-Marie-Tooth disease typ.. [+] autosomal dominant Charcot-Marie-Tooth disease type 2C; Charcot-Marie-Tooth neuropathy type 2C; CMT2C; hereditary motor and sensory neuropathy type IIc; autosomal cominant axonal Charcot-Marie-Tooth disease type 2C; HMSN2C; [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24. [-]
Charcot-Marie-Tooth disease axonal type 2CC	CMT2CC; Charcot-Marie-Tooth neuropathy type 2CC;	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12. [-]
Charcot-Marie-Tooth disease axonal type 2F	autosomal dominant Charcot-Marie-Tooth disease typ.. [+] autosomal dominant Charcot-Marie-Tooth disease type 2F; Charcot-Marie-Tooth neuropathy type 2F; CMT2F; Charcot-Marie-Tooth neuronal type 2F; [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1). [-]
Charcot-Marie-Tooth disease axonal type 2H	AR-CMT2C; autosomal recessive axonal Charcot-Marie.. [+] AR-CMT2C; autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features; autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features; Axonal Charcot-Marie-Tooth disease with pyramidal involvement; Charcot-Marie-Tooth disease type 2H; CMT2H; Autosomal recessive axonal CMT4C2; [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23. [-]
Charcot-Marie-Tooth disease axonal type 2K	ARCMT2K; autosomal recessive axonal Charcot-Marie-.. [+] ARCMT2K; autosomal recessive axonal Charcot-Marie-Tooth disease type 2K; autosomal recessive axonal CMT4C4; autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Charcot-Marie-Tooth neuropathy axonal type 2K; autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K; [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q. [-]
Charcot-Marie-Tooth disease axonal type 2L	autosomal dominant axonal Charcot-Marie-Tooth dise.. [+] autosomal dominant axonal Charcot-Marie-Tooth disease type 2L; autosomal dominant Charcot-Marie-Tooth disease type 2L; CMT2L; Charcot-Marie-Tooth neuropathy axonal type 2L; [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene. [-]
Charcot-Marie-Tooth disease axonal type 2N	autosomal dominant axonal Charcot-Marie-Tooth dise.. [+] autosomal dominant axonal Charcot-Marie-Tooth disease type 2N; autosomal dominant Charcot-Marie-Tooth disease type 2N; Charcot-Marie-Tooth neuropathy axonal type 2N; CMT2N; [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21. [-]
Charcot-Marie-Tooth disease axonal type 2O	autosomal dominant axonal Charcot-Marie-Tooth dise.. [+] autosomal dominant axonal Charcot-Marie-Tooth disease type 2O; autosomal dominant Charcot-Marie-Tooth disease type 2O; Charcot-Marie-Tooth neuropathy axonal type 2O; [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. [-]
Charcot-Marie-Tooth disease axonal type 2P	Charcot-Marie-Tooth disease type 2P; Charcot-Marie.. [+] Charcot-Marie-Tooth disease type 2P; Charcot-Marie-Tooth neuropathy type 2P; CMT2P; [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33. [-]
Charcot-Marie-Tooth disease axonal type 2Q	autosomal dominant axonal Charcot-Marie-Tooth dise.. [+] autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q; Charcot-Marie-Tooth neuropathy type 2Q; CMT2Q; autosomal dominant Charcot-Marie-Tooth disease type 2Q; [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14. [-]
Charcot-Marie-Tooth disease axonal type 2S	autosomal recessive axonal Charcot-Marie-Tooth typ.. [+] autosomal recessive axonal Charcot-Marie-Tooth type 2S; Charcot-Marie-Tooth neuropathy type 2S; CMT2S; Charcot-Marie-Tooth disease type 2S; [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. [-]
Charcot-Marie-Tooth disease axonal type 2T	AR-CMT2T; autosomal recessive axonal Charcot-Marie.. [+] AR-CMT2T; autosomal recessive axonal Charcot-Marie-Tooth disease type 2T; Charcot-Marie-Tooth neuropathy type 2T; CMT2T; [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25. [-]
Charcot-Marie-Tooth disease axonal type 2U	autosomal dominant axonal Charcot-Marie-Tooth dise.. [+] autosomal dominant axonal Charcot-Marie-Tooth disease type 2U; autosomal dominant Charcot-Marie-Tooth disease type 2U; CMT2U; Charcot-Marie-Tooth neuropathy type 2U; [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13. [-]
Charcot-Marie-Tooth disease axonal type 2V	autosomal dominant Charcot-Marie-Tooth disease typ.. [+] autosomal dominant Charcot-Marie-Tooth disease type 2V; Charcot-Marie-Tooth neuropathy type 2V; CMT2V; autosomal dominant axonal Charcot-Marie-Tooth disease type 2V; [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21. [-]

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