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Disease	Synonyms	Description
CD3epsilon deficiency		A severe combined immunodeficiency that is an autosomal rece..[+] A severe combined immunodeficiency that is an autosomal recessive immunodeficiency that has material basis in mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. [-]
CD3gamma deficiency		A severe combined immunodeficiency an autosomal recessive im..[+] A severe combined immunodeficiency an autosomal recessive immunodeficiency that has material basis in mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected. [-]
CD3zeta deficiency		A severe combined immunodeficiency that affects the developm..[+] A severe combined immunodeficiency that affects the development and function of T cells. [-]
CD40 deficiency	hyper-IgM syndrome due to CD40 deficiency; immunodeficiency .. [+] hyper-IgM syndrome due to CD40 deficiency; immunodeficiency with hyper-IgM type 3; type 3 hyper-IgM immunodeficiency ; [-]	A combined T cell and B cell immunodeficiency that has mater..[+] A combined T cell and B cell immunodeficiency that has material basis in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation. [-]
CD40 ligand deficiency	HIGMX-1; X-linked hyper-IgM syndrome;	A combined T cell and B cell immunodeficiency that is a X-li..[+] A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE. [-]
CD45 deficiency		A severe combined immunodeficiency that is an autosomal rece..[+] A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age. [-]
CEDNIK syndrome	cerebral dysgenesis, neuropathy, ichthyosis and keratoderma .. [+] cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome; [-]	A syndrome that has_material_basis_in homozygous mutation in..[+] A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis. [-]
CHARGE syndrome	CHARGE association;	A syndrome that is acterized by a pattern of congenital anom..[+] A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. [-]
CHILD syndrome	CHILD nevus; congenital hemidysplasia with ichthyosiform nev.. [+] CHILD nevus; congenital hemidysplasia with ichthyosiform nevus and limbs defects; [-]	A syndrome characterized by congenital hemidysplasia, ichyth..[+] A syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that has_material_basis_in heterozygous mutation in NSDHL on chromosome Xq28. [-]
CINCA Syndrome	chronic infantile neurological cutaneous articular syndrome;.. [+] chronic infantile neurological cutaneous articular syndrome; chronic neurologic cutaneous and articular syndrome; cryopyrin-associated periodic syndrome 3; infantile-onset multisystem inflammatory disease; neonatal-onset multisystem inflammatory disease; NOMID syndrome; Prieur-Griscelli syndrome; IOMID syndrome; [-]	A hypersensitivity reaction type II disease characterized by..[+] A hypersensitivity reaction type II disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q. [-]
CK syndrome	X-linked intellectual disability-microcephaly-cortical malfo.. [+] X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome; [-]	A lipid metabolism disorder characterized by increased methy..[+] A lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus that has_material_basis_in hemizygous mutation in NSDHL on chromosome Xq28. [-]
CLL/SLL	chronic lymphocytic leukemia/small lymphocytic lymphoma; chr.. [+] chronic lymphocytic leukemia/small lymphocytic lymphoma; chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality); [-]	A chronic lymphocytic leukemia that is characterized by the ..[+] A chronic lymphocytic leukemia that is characterized by the presence of immature lymphocytes in the blood and bone marrow and/or in the lymph nodes. [-]
COACH syndrome	cerebellar vermis hypo/aplasia, oligophrenia, congenital ata.. [+] cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis; Gentile syndrome; Joubert syndrome with hepatic defect; JS-H; Joubert syndrome with congenital hepatic fibrosis; [-]	A syndrome characterized by autosomal recessive inheritance ..[+] A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L). [-]
CODAS syndrome	cerebral, ocular, dental, auricular, and skeletal syndrome; .. [+] cerebral, ocular, dental, auricular, and skeletal syndrome; cerebro-oculo-dento-auriculo-skeletal syndrome; [-]	A syndrome characterized by developmental delay, and cerebra..[+] A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3. [-]
COL4A1-related familial vascular leukoencephalopathy	brain small vessel disease with Axenfeld-Riegar anomaly; bra.. [+] brain small vessel disease with Axenfeld-Riegar anomaly; brain small vessel disease with hemorrhage; brain small vessel disease with or without ocular anomalies; BSVD; COL4A1-related brain small vessel disease with hemorrhage; COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome; infantile hemiparesis; autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy; leukoencephalopathy with Axenfeld-Riegar anomaly; [-]	A brain disease characterized by autosomal dominant inherita..[+] A brain disease characterized by autosomal dominant inheritance of fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in heterozygous mutation in the COL4A1 gene on chromosome 13q34. [-]
COVID-19	2019 Novel Coronavirus (2019-nCoV); 2019-nCoV infection; Wuh.. [+] 2019 Novel Coronavirus (2019-nCoV); 2019-nCoV infection; Wuhan coronavirus infection; Wuhan seafood market pneumonia virus infection; [-]	A Coronavirus infection that is characterized by fever, coug..[+] A Coronavirus infection that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2. [-]
CREST syndrome		A syndrome characterized by calcinosis, Raynaud's phenomeno,..[+] 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 heterozyg..[+] 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, Icelandic Type.. [+] Amyloidosis VI; Amyloidosis, Cerebroarterial, Icelandic Type; Cerebral Hemorrhage, Hereditary, with Amyloidosis; HCHWA; Hereditary Cerebral Hemorrhage with Amyloidosis; [-]	A cerebral amyloid angiopathy that has_material_basis_in an ..[+] A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of CST3 on chromosome 20p11.21. [-]
Caffey disease	infantile cortical hyperostosis; cortical congenital hyperos.. [+] infantile cortical hyperostosis; cortical congenital hyperostosis; [-]	A bone inflammation disease that causes bone changes, soft t..[+] 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 dysplasia; Diaphy.. [+] Engelman's disease; progressive diaphyseal dysplasia; Diaphyseal dysplasia; [-]	An osteosclerosis that has_material_basis_in mutations in th..[+] 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 degeneration of.. [+] CANAVAN-VAN BOGAERT-BERTRAND DISEASE; Spongy degeneration of central nervous system; [-]	n_a
Capgras syndrome	Capgras delusion theory;	A delusional disorder in which a person holds a delusion tha..[+] 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 pneumoconiosis.. [+] Caplan syndrome; Caplans syndrome; Rheumatoid pneumoconiosis; Caplan's disease; [-]	A pneumoconiosis that results_in humans that also have rheum..[+] A pneumoconiosis that results_in humans that also have rheumatoid arthritis. [-]
Carey-Fineman-Ziter syndrome		A syndrome characterized by hypotonia, Moebius sequence (bil..[+] 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 Syndrome; Carn.. [+] Carney Complex, Type 2; Carney Syndrome; NAME Syndrome; Carney Complex, Type 1; LAMB Syndrome; Carney complex variant; [-]	A syndrome characterized by myxomas, spotty pigmentation of ..[+] A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. [-]
Caroli disease		A bile duct disease that is characterized by abnormal dilata..[+] A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts. [-]
Carpenter syndrome	acrocephalopolysyndactyly type II;	An acrocephalosyndactylia characterized by craniosynostosis,..[+] An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. [-]
Carrion's disease	Carrion disease; Oroya fever;	A bartonellosis that results_in infection located_in endothe..[+] 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 lymph nod.. [+] angiofollicular lymph hyperplasia; angiofollicular lymph node hyperplasia; giant lymph node hyperplasia; lymphoid hamartoma; [-]	A lymphoproliferative syndrome characterized by one or more ..[+] 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 an acute l..[+] 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 characterized by ma..[+] 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, malformation of th..[+] 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 nervous system involve.. [+] Chagas' disease; chagas' disease with nervous system involvement; chagas' disease with other organ involvement; American trypanosomiasis; chagas' disease with digestive system involvement; [-]	A trypanosomiasis that is a tropical parasitic disease cause..[+] 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 corneal endothe.. [+] 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 corneal edema, ..[+] 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 fever, has_..[+] 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 and abnor..[+] A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits. [-]
Charcot-Marie-Tooth disease	Charcot Marie Tooth muscular atrophy; CMT - Charcot-Marie-To.. [+] Charcot Marie Tooth muscular atrophy; CMT - Charcot-Marie-Tooth disease; Peroneal muscular atrophy; [-]	A neuromuscular disease that is characterized by a slowly pr..[+] 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; CMT1X; C.. [+] 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_material_bas..[+] 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; CMT6X; C.. [+] 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_material_bas..[+] 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 2; X-linke.. [+] 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_material_bas..[+] 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 3; CMT3X; .. [+] 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_material_bas..[+] 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 mental ret.. [+] 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_material_bas..[+] 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 5; CMT5X; .. [+] 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_material_bas..[+] 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 type 2C; Char.. [+] 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_material_basis..[+] 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_material_basis..[+] 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 type 2F; Char.. [+] 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_material_basi..[+] 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-Tooth dis.. [+] 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_material_basis..[+] 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-Tooth dise.. [+] 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_material_basis..[+] 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 disease type 2.. [+] 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_material_basis..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene. [-]

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