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Disease	Synonyms	Description
Burkitt lymphoma	Burkitt lymphoma/leukaemia; Burkitt's Lymphoma; Bu.. [+] Burkitt lymphoma/leukaemia; Burkitt's Lymphoma; Burkitt's tumor; Burkitt's tumor or lymphoma; malignant lymphoma, Burkitt's type; small Non-Cleaved cell Lymphoma, Burkitt's type; [-]	A mature B-cell neoplasm of B-cells found in the g..[+] A mature B-cell neoplasm of B-cells found in the germinal center. [-]
Buruli ulcer disease	Bairnsdale ulcer; Daintree ulcer; Mossman ulcer; S.. [+] Bairnsdale ulcer; Daintree ulcer; Mossman ulcer; Searl ulcer; Searle's ulcer; [-]	A primary bacterial infectious disease that result..[+] A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin. [-]
C-P angle neurinoma	Cerebellopontine Angle Neurinoma;	n_a
C1 inhibitor deficiency	Quincke edema;	A complement deficiency that is a functional defic..[+] A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue. [-]
CADASIL	cerebral autosomal dominant arteriopathy with subc.. [+] cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; hereditary multi-infarct dementia; [-]	An autosomal dominant cerebrovascular disorder cha..[+] An autosomal dominant cerebrovascular disorder characterized by recurrent subcortical ischemic stroke and cognitive impairment. [-]
CADASIL 1	autosomal dominant cerebral arteriopathy with subc.. [+] autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1; [-]	A CADASIL characterized by migraine, strokes, and ..[+] A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13. [-]
CADASIL 2	autosomal dominant cerebral arteriopathy with subc.. [+] autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2; [-]	A CADASIL characterized by stroke, transient ische..[+] A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the HTRA1 gene on chromosome 10q26. [-]
CAKUT	Congenital anomalies of the kidney and urinary tra.. [+] Congenital anomalies of the kidney and urinary tract; Renal or urinary tract malformation; [-]	A urinary system disease characterized by structur..[+] A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux. [-]
CAKUT1		A CAKUT that has_material_ basis_in heterozygous m..[+] A CAKUT that has_material_ basis_in heterozygous mutation in the DSTYK gene on chromosome 1q32. [-]
CAKUT2		A CAKUT that has_material_basis_in heterozygous mu..[+] A CAKUT that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14. [-]
CD3delta deficiency	CD3D;	A severe combined immunodeficiency that is charact..[+] A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development. [-]
CD3epsilon deficiency		A severe combined immunodeficiency that is an auto..[+] 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 re..[+] 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 th..[+] A severe combined immunodeficiency that affects the development and function of T cells. [-]
CD40 deficiency	hyper-IgM syndrome due to CD40 deficiency; immunod.. [+] 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..[+] 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..[+] 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 auto..[+] 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 ke.. [+] cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome; [-]	An autosomal recessive disease that has material b..[+] An autosomal recessive disease 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 conge..[+] A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. [-]
CINCA Syndrome	chronic infantile neurological cutaneous articular.. [+] chronic infantile neurological cutaneous articular syndrome; chronic neurologic cutaneous and articular syndrome; cryopyrin-associated periodic syndrome 3; infantile-onset multisystem inflammatory disease; IOMID syndrome; neonatal-onset multisystem inflammatory disease; NOMID syndrome; Prieur-Griscelli syndrome; [-]	A hypersensitivity reaction type II disease charac..[+] 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. [-]
CLL/SLL	chronic lymphocytic leukemia/small lymphocytic lym.. [+] chronic lymphocytic leukemia/small lymphocytic lymphoma; chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality); [-]	A chronic lymphocytic leukemia that is characteriz..[+] 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. [-]
COL4A1-related familial vascular leukoencephalopathy	autosomal dominant retinal arteriolar tortuosity, .. [+] autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy; 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; leukoencephalopathy with Axenfeld-Riegar anomaly; [-]	A brain disease characterized by autosomal dominan..[+] 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. [-]
CREST syndrome		A syndrome characterized by calcinosis, Raynaud's ..[+] A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia. [-]
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; [-]	A cerebral amyloid angiopathy that has_material_ba..[+] A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of CST3 on chromosome 20p11.21. [-]
Caffey disease	cortical congenital hyperostosis; infantile cortic.. [+] cortical congenital hyperostosis; infantile cortical 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	Diaphyseal dysplasia; Engelman's disease; progress.. [+] Diaphyseal dysplasia; Engelman's disease; progressive 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; [-]	n_a
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; Caplan's disease; Caplans syndrom.. [+] Caplan syndrome; Caplan's disease; Caplans syndrome; Rheumatoid pneumoconiosis; [-]	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 variant; Carney Complex, Type 1; Ca.. [+] Carney complex variant; Carney Complex, Type 1; Carney Complex, Type 2; Carney Syndrome; LAMB Syndrome; NAME Syndrome; [-]	An autosomal dominant disease characterized by myx..[+] An autosomal dominant disease 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; [-]	n_a
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. [-]

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