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Disease	Synonyms	Description	Articles
complement component 9 deficiency		A complement deficiency that is characterized by r..[+] A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C9 gene. [-]
complement deficiency	Complement deficiency; Complement deficiency disea.. [+] Complement deficiency; Complement deficiency disease (disorder); Complement deficiency disease; [-]	A primary immunodeficiency disease that is the res..[+] A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation. [-]
complement factor I deficiency	C3 INACTIVATOR DEFICIENCY; COMPLEMENT COMPONENT 3 .. [+] C3 INACTIVATOR DEFICIENCY; COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY; [-]	n_a
complete androgen insensitivity syndrome		An androgen insensitivity syndrome that is charact..[+] An androgen insensitivity syndrome that is characterized by complete androgen insensitivity as the body cannot use androgens at all, having the external sex characteristics of females but no uterus. [-]
complete cryptophthalmia		An isolated cryptophthalmia characterized by failu..[+] An isolated cryptophthalmia characterized by failure of formation of the lid folds and globe results in skin extending from the brow to the cheek without identifiable adnexal structures and often the presence of a vestigial ocular structure or cyst within the socket. [-]
complex cortical dysplasia with other brain malformations	CDCBM;	A brain disease characterized by aberrant neuronal..[+] A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations including; polymicrogyria, gyral disorganization, fusion of the basal ganglia, thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis and behavioral phenotypes including; intellectual disablility, strabismus, axial hypotonia, and spasticity. [-]
complex cortical dysplasia with other brain malformations 1	CDCBM1; cortical dysgenesis with pontocerebellar h.. [+] CDCBM1; cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation; [-]	A complex cortical dysplasia with other brain malf..[+] A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3. [-]
complex cortical dysplasia with other brain malformations 2	CDCBM2;	A complex cortical dysplasia with other brain malf..[+] A complex cortical dysplasia with other brain malformations that has_material_basis_in heterozygous mutation in the KIF5C gene on chromosome 2q23. [-]
complex cortical dysplasia with other brain malformations 3	CDCBM3;	A complex cortical dysplasia with other brain malf..[+] A complex cortical dysplasia with other brain malformations that has_material_basis_in heterozygous mutation in the KIF2A gene on chromosome 5q12. [-]
complex cortical dysplasia with other brain malformations 4	CDCBM4;	A complex cortical dysplasia with other brain malf..[+] A complex cortical dysplasia with other brain malformations that has_material_basis_in heterozygous mutation in the TUBG1 gene on chromosome 17q21. [-]
complex cortical dysplasia with other brain malformations 5	CDCBM5;	A complex cortical dysplasia with other brain malf..[+] A complex cortical dysplasia with other brain malformations that has_material_basis_in heterozygous mutation in the TUBB2A gene on chromosome 6p25. [-]
complex cortical dysplasia with other brain malformations 6	CDCBM56;	A complex cortical dysplasia with other brain malf..[+] A complex cortical dysplasia with other brain malformations that has_material_basis_in heterozygous mutation in the TUBB gene on chromosome 6p21. [-]
complex cortical dysplasia with other brain malformations 7	CDCBM7; polymicrogyria due to TUBB2B mutation;	A complex cortical dysplasia with other brain malf..[+] A complex cortical dysplasia with other brain malformations that is characterized by abnormalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25. [-]
complex partial epilepsy	epilepsy, psychomotor; Psychomotor epilepsy; Psych.. [+] epilepsy, psychomotor; Psychomotor epilepsy; Psychomotor epilepsy (disorder); Complex partial epileptic seizure; psychomotor epilepsy; [-]	n_a
complex regional pain syndrome	Complex regional pain syndromes (disorder); Comple.. [+] Complex regional pain syndromes (disorder); Complex regional pain syndromes; [-]	n_a
composite lymphoma		A lymphoma that begins in cells of the immune syst..[+] A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time. [-]
conduct disorder		A specific developmental disorder marked by a patt..[+] A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated. [-]
cone dystrophy	retinal cone dystrophy;	A retinal disease that is characterized by the los..[+] A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. [-]	1 articles
cone-rod dystrophy	cone-rod retinal dystrophy;	A retinal degeneration that characterized by progr..[+] A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells. [-]	1 articles
cone-rod dystrophy 1	CORD1; CRD1;	A cone-rod dystrophy that has_material_basis_in va..[+] A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 18q21.1-q21.3. [-]
cone-rod dystrophy 10	CORD10;	A cone-rod dystrophy that has_material_basis_in co..[+] A cone-rod dystrophy that has_material_basis_in compound heterozygous mutation in the SEMA4A gene on chromosome 1q22. [-]
cone-rod dystrophy 11	CORD11;	A cone-rod dystrophy that has_material_basis_in he..[+] A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RAX2 gene on chromosome 19p13. [-]
cone-rod dystrophy 12	CORD12;	A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15. [-]
cone-rod dystrophy 13	CORD13;	A cone-rod dystrophy that has_material_basis_in mu..[+] A cone-rod dystrophy that has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.2. [-]
cone-rod dystrophy 14		A cone-rod dystrophy that is characterized by dete..[+] A cone-rod dystrophy that is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod photoreceptor cells in later life that has_material_basis_in mutation in the GUCA1A gene on chromosome 6p21.1. [-]
cone-rod dystrophy 15	CORD15;	A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous mutation in the CDHR1 gene on chromosome 10q23. [-]
cone-rod dystrophy 16	CORD16; retinal dystrophy with early macular invol.. [+] CORD16; retinal dystrophy with early macular involvement; [-]	A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22. [-]
cone-rod dystrophy 17	CORD17;	A cone-rod dystrophy that has_material_basis_in va..[+] A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 10q26. [-]
cone-rod dystrophy 18	CORD18;	A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous mutation in the RAB28 gene on chromosome 4p15. [-]
cone-rod dystrophy 19	CORD19;	A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TTLL5 gene on chromosome 14q24. [-]
cone-rod dystrophy 2	cone-rod retinal dystrophy 2; CRD2; RCRD2; CORD2; .. [+] cone-rod retinal dystrophy 2; CRD2; RCRD2; CORD2; retinal cone-rod dystrophy 2; [-]	A cone-rod dystrophy that has_material_basis_in he..[+] A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13. [-]
cone-rod dystrophy 20	CORD20;	A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POC1B gene on chromosome 12q21. [-]
cone-rod dystrophy 21		A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DRAM2 gene on chromosome 1p13. [-]
cone-rod dystrophy 22		A cone-rod dystrophy that is characterized by loss..[+] A cone-rod dystrophy that is characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life and that has_material_basis_in homozygous mutation in the TLCD3B gene on chromosome 16p11. [-]
cone-rod dystrophy 24		A cone-rod dystrophy that is characterized by nigh..[+] A cone-rod dystrophy that is characterized by night blindness, defective color vision, and reduced visual acuity and that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11. [-]
cone-rod dystrophy 3	CORD3;	A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22. [-]	1 articles
cone-rod dystrophy 5	CORD5;	A cone-rod dystrophy that has_material_basis_in mu..[+] A cone-rod dystrophy that has_material_basis_in mutation in the PITPNM3 gene in chromosome region 17p13.2-p13.1. [-]
cone-rod dystrophy 6	CORD6; RCD2; retinal cone dystrophy 2;	A cone-rod dystrophy that has_material_basis_in he..[+] A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the GUCY2D gene on chromosome 17p13.1. [-]
cone-rod dystrophy 7	CORD7;	A cone-rod dystrophy that has_material_basis_in va..[+] A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 6q13. [-]
cone-rod dystrophy 8	CORD8;	A cone-rod dystrophy that has_material_basis_in va..[+] A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 1q12-q24. [-]
cone-rod dystrophy 9	CORD9;	A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM9 gene on chromosome 8p11. [-]
congenital adrenal hyperplasia	adrenal hyperplasia 1; congenital lipoid adrenal h.. [+] adrenal hyperplasia 1; congenital lipoid adrenal hyperplasia ; lipoid CAH; [-]	A steroid inherited metabolic disorder that is cha..[+] A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency. [-]
congenital adrenal insufficiency	ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX .. [+] ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE; P450scc DEFICIENCY; Adrenal insufficiency, congenital, with 46,XY sex reversal; [-]	An adrenal gland disease that is characterized by ..[+] An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase. [-]
congenital afibrinogenemia	Factor I deficiency; Fibrinogen deficiency;	A blood coagulation disease that is characterized ..[+] A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I). [-]
congenital amegakaryocytic thrombocytopenia	CAMT; congenital amegakaryocytic thrombocytopenic .. [+] CAMT; congenital amegakaryocytic thrombocytopenic purpura; [-]	A thrombocytopenia that is characterized by a seve..[+] A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (MPL) on chromosome 1p34. [-]
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	CAKUTHED;	A syndrome characterized by variable congenital an..[+] A syndrome characterized by variable congenital anomalies of the kidney and urinary tract and variable presentation of ear abnormalities, hearing loss, and global developmental delay that has_material_basis_in heterozygous mutation in the PBX1 gene on chromosome 1q23.3 or deletion of a genomic region that includes the PBX1 gene. [-]
congenital aphakia	APHAKIA, CONGENITAL PRIMARY; Congenital absence of.. [+] APHAKIA, CONGENITAL PRIMARY; Congenital absence of lens; [-]	n_a
congenital bilateral absence of vas deferens	CAVD; CBAVD; congenital bilateral agenesis of vas .. [+] CAVD; CBAVD; congenital bilateral agenesis of vas deferens; congenital bilateral aplasia of vas deferens; [-]	A male infertility that is characterized by bilate..[+] A male infertility that is characterized by bilateral absence of the vas deferens resulting in obstroctive azoospermia and male infertility. [-]
congenital bile acid synthesis defect	3-beta-hydroxy-delta-5-C27-steroid oxidoreductase .. [+] 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency; CBA; cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency; [-]	A steroid inherited metabolic disorder characteriz..[+] A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver. [-]
congenital bile acid synthesis defect 1	CBAS1;	A congenital bile acid synthesis defect characteri..[+] A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p. [-]

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