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Disease	Synonyms	Description
Carney complex	Carney complex variant; Carney Complex, Type 1; Ca.. [+] Carney complex variant; Carney Complex, Type 1; Carney Complex, Type 2; Carney Syndrome; LAMB Syndrome; NAME Syndrome; [-]	A syndrome characterized by myxomas, spotty pigmen..[+] A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. [-]
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. [-]
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. [-]
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. [-]
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;	A cerebellar ataxia characterized by marked autoso..[+] A cerebellar ataxia characterized by marked autosomal recessie 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	American trypanosomiasis; Chagas' disease; chagas'.. [+] American trypanosomiasis; Chagas' disease; chagas' disease with digestive system involvement; chagas' disease with nervous system involvement; chagas' disease with other organ 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. [-]
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 Chapare virus. 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. [-]
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. [-]
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; CMTX2; X-linked Charcot-Marie-Tooth disease type 2; [-]	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; CMT4X; CMTX4; Cowchock syndrome; COWCK; NADMR; NAMSD; 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; CMTX5; optic atrophy, polyneuropathy, and deafness; Rosenberg-Chutorian syndrome; X-linked Charcot-Marie-Tooth disease type 5; [-]	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 cominant axonal Charcot-Marie-Tooth dise.. [+] autosomal cominant axonal Charcot-Marie-Tooth disease type 2C; autosomal dominant Charcot-Marie-Tooth disease type 2C; Charcot-Marie-Tooth neuropathy type 2C; CMT2C; hereditary motor and sensory neuropathy type IIc; 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	Charcot-Marie-Tooth neuropathy type 2CC; CMT2CC;	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 neuronal type 2F; Charcot-Marie-Tooth neuropathy type 2F; CMT2F; [-]	A Charcot-Marie-Tooth disease type 2 that has_mat..[+] 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; Autosomal recessive axonal CMT4C2; Axonal Charcot-Marie-Tooth disease with pyramidal involvement; Charcot-Marie-Tooth disease type 2H; CMT2H; [-]	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 disease type 2K; 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; [-]	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; Charcot-Marie-Tooth neuropathy axonal type 2L; CMT2L; [-]	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; autosomal dominant Charcot-Marie-Tooth disease type 2Q; Charcot-Marie-Tooth neuropathy type 2Q; CMT2Q; [-]	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 disease type 2S; Charcot-Marie-Tooth neuropathy type 2S; CMT2S; [-]	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; Charcot-Marie-Tooth neuropathy type 2U; CMT2U; [-]	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 axonal Charcot-Marie-Tooth dise.. [+] autosomal dominant axonal Charcot-Marie-Tooth disease type 2V; autosomal dominant Charcot-Marie-Tooth disease type 2V; Charcot-Marie-Tooth neuropathy type 2V; CMT2V; [-]	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. [-]
Charcot-Marie-Tooth disease axonal type 2X	autosomal recessive axonal Charcot-Marie-Tooth dis.. [+] autosomal recessive axonal Charcot-Marie-Tooth disease type 2X; Charcot-Marie-Tooth neuropathy type 2X; [-]	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 SPG11 gene on chromosome 15q21. [-]
Charcot-Marie-Tooth disease axonal type 2Z	autosomal dominant axonal Charcot-Marie-Tooth dise.. [+] autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z; Charcot-Marie-Tooth neuropathy type 2Z; CMT2Z; [-]	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 MORC2 gene on chromosome 22q12. [-]
Charcot-Marie-Tooth disease dominant intermediate A	autosomal dominant intermediate Charcot-Marie-Toot.. [+] autosomal dominant intermediate Charcot-Marie-Tooth disease type A; Charcot-Marie-Tooth neuropathy dominant intermediate A; CMTDIA; DI-CMTA; [-]	A Charcot-Marie-Tooth disease intermediate type th..[+] A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in variation in the region 10q24.1-q25.1. [-]
Charcot-Marie-Tooth disease dominant intermediate B	Charcot-Marie-Tooth neuropathy dominant intermedia.. [+] Charcot-Marie-Tooth neuropathy dominant intermediate B; CMTDI1; CMTDIB; DI-CMTB; [-]	A Charcot-Marie-Tooth disease intermediate type th..[+] A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2). [-]
Charcot-Marie-Tooth disease dominant intermediate C	autosomal dominant intermediate Charcot-Marie-Toot.. [+] autosomal dominant intermediate Charcot-Marie-Tooth disease type C; Charcot-Marie-Tooth neuropathy dominant intermediate C; CMTDIC; DI-CMTC; [-]	A Charcot-Marie-Tooth disease intermediate type th..[+] A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35. [-]
Charcot-Marie-Tooth disease dominant intermediate D	autosomal dominant intermediate Charcot-Marie-Toot.. [+] autosomal dominant intermediate Charcot-Marie-Tooth disease type D; Charcot-Marie-Tooth neuropathy dominant intermediate D; CMTDID; DI-CMTD; [-]	A Charcot-Marie-Tooth disease intermediate type th..[+] A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. [-]
Charcot-Marie-Tooth disease dominant intermediate E	autosomal dominant intermediate Charcot-Marie-Toot.. [+] autosomal dominant intermediate Charcot-Marie-Tooth disease type E; Charcot-Marie-Tooth disease-nephropathy syndrome; Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis; CMTDIE; [-]	A Charcot-Marie-Tooth disease intermediate type th..[+] A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32. [-]
Charcot-Marie-Tooth disease dominant intermediate F	autosomal dominant intermediate Charcot-Marie-Toot.. [+] autosomal dominant intermediate Charcot-Marie-Tooth disease type F; CMTDIF; [-]	A Charcot-Marie-Tooth disease intermediate type th..[+] A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the GNB4 gene on chromosome 3q28. [-]
Charcot-Marie-Tooth disease dominant intermediate G		A Charcot-Marie-Tooth disease intermediate type th..[+] A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the NEFL gene on chromosome 8p21. [-]
Charcot-Marie-Tooth disease intermediate type	Charcot-Marie-Tooth disease dominant intermediate;.. [+] Charcot-Marie-Tooth disease dominant intermediate; Charcot-Marie-Tooth disease recessive intermediate; [-]	A Charcot-Marie-Tooth disease characterized by mot..[+] A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s. [-]
Charcot-Marie-Tooth disease recessive intermediate A	autosomal recessive intermediate Charcot-Marie-Too.. [+] autosomal recessive intermediate Charcot-Marie-Tooth disease type A; Charcot-Marie-Tooth neuropathy recessive intermediate A; CMTRIA; RI-CMTA; [-]	A Charcot-Marie-Tooth disease intermediate type th..[+] A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21. [-]
Charcot-Marie-Tooth disease recessive intermediate B	autosomal recessive intermediate Charcot-Marie-Too.. [+] autosomal recessive intermediate Charcot-Marie-Tooth disease type B; Charcot-Marie-Tooth neuropathy recessive intermediate B; CMTRIB; RI-CMTB; [-]	A Charcot-Marie-Tooth disease intermediate type th..[+] A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23. [-]
Charcot-Marie-Tooth disease recessive intermediate C	autosomal recessive intermediate Charcot-Marie-Too.. [+] autosomal recessive intermediate Charcot-Marie-Tooth disease type C; CMTRIC; RI-CMT type C; RI-CMTC; [-]	A Charcot-Marie-Tooth disease intermediate type th..[+] A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36. [-]
Charcot-Marie-Tooth disease recessive intermediate D	autosomal recessive intermediate Charcot-Marie-Too.. [+] autosomal recessive intermediate Charcot-Marie-Tooth disease type D; CMTRID; RI-CMT type D; [-]	A Charcot-Marie-Tooth disease intermediate type th..[+] A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24. [-]
Charcot-Marie-Tooth disease type 1	hereditary motor and sensory neuropathy type 1;	A Charcot-Marie-Tooth disease characterized by dem..[+] A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons. [-]
Charcot-Marie-Tooth disease type 1A	autosomal dominant Charcot-Marie-Tooth disease wit.. [+] autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A; Charcot-Marie-Tooth neuropathy type 1A; CMT1A; hereditary motor and sensory neuropathy 1A; HMSN1A; microduplication 17p12; [-]	A Charcot-Marie-Tooth disease type 1 that has_mate..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22). [-]
Charcot-Marie-Tooth disease type 1B	autosomal dominant Charcot-Marie-Tooth disease wit.. [+] autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B ; Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy; Charcot-Marie-Tooth neuropathy type 1B; CMT1B; hereditary motor and sensory neuropathy IB; HMSN IB; HMSN1B; peroneal muscular atrophy; [-]	A Charcot-Marie-Tooth disease type 1 that has_mate..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ). [-]

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