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Disease	Synonyms	Description
columnar cell variant papillary carcinoma		n_a
combat disorder	Combat Neurosis;	An acute stress disorder that involves neurotic re..[+] An acute stress disorder that involves neurotic reactions to unusual, severe, or overwhelming military stress. [-]
combined D-2- and L-2-hydroxyglutaric aciduria	combined D,L-2-hydroxyglutaric aciduria; combined .. [+] combined D,L-2-hydroxyglutaric aciduria; combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria; D,L-2-hydroxyglutaric acidemia; D,L-2-hydroxyglutaric aciduria; D,L-2-HGA; combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia; [-]	A 2-hydroxyglutaric aciduria characterized by neon..[+] A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A1 gene on chromosome 22q11.21. [-]
combined T cell and B cell immunodeficiency	combined immunodeficiency; Congenital Combined Imm.. [+] combined immunodeficiency; Congenital Combined Immunodeficiency; X-linked combined immunodeficiency; [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity. [-]
combined cellular and humoral immune defects with granulomas	CCHIDG; CID due to RAG 1/2 deficiency; combined im.. [+] CCHIDG; CID due to RAG 1/2 deficiency; combined immunodeficiency due to RAG 1/2 deficiency; combined immunodeficiency with granulomatosis; combined immunodeficiency with skin granulomas; [-]	A combined immunodeficiency characterized by combi..[+] A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in the RAG1 gene or the RAG2 gene on chromosome 11p12. [-]
combined deficiency of vitamin K-dependent clotting factors 1	VKCFD1;	A hereditary combined deficiency of vitamin K-depe..[+] A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the GGCX gene on chromosome 2p11.2. [-]
combined deficiency of vitamin K-dependent clotting factors 2	VKCFD2;	A hereditary combined deficiency of vitamin K-depe..[+] A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the VKORC1 gene on chromosome 16p11.2. [-]
combined immunodeficiency		A primary immunodeficiency disease that involves m..[+] A primary immunodeficiency disease that involves multiple components of the immune system. [-]
combined malonic and methylmalonic acidemia	CMAMMA; combined malonic and methylmalonic aciduri.. [+] CMAMMA; combined malonic and methylmalonic aciduria; [-]	An organic acidemia characterized by elevated leve..[+] An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3. [-]
combined oxidative phosphorylation deficiency		A mitochondrial metabolism disease that is charact..[+] A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction. [-]
combined oxidative phosphorylation deficiency 1	COXPD1; early fatal progressive hepatoencephalopat.. [+] COXPD1; early fatal progressive hepatoencephalopathy; hepatoencephalopathy due to combined oxidative phosphorylation defect type 1; hepatoencephalopathy due to COXPD1; [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32. [-]
combined oxidative phosphorylation deficiency 10	COXPD10; infantile hypertrophic mitochondrial card.. [+] COXPD10; infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis; mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency; [-]	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the MTO1 gene on chromosome 6q13. [-]
combined oxidative phosphorylation deficiency 11	COXPD11; infantile encephaloneuromyopathy due to m.. [+] COXPD11; infantile encephaloneuromyopathy due to mitochondrial translation defect; [-]	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in the RMND1 gene on chromosome 6q25.1. [-]
combined oxidative phosphorylation deficiency 12	COXPD12; leukoencephalopathy with thalamus and bra.. [+] COXPD12; leukoencephalopathy with thalamus and brainstem involvement and high lactate; leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome; LTBL; [-]	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the EARS2 gene on chromosome 16p12.2. [-]
combined oxidative phosphorylation deficiency 13	COXPD13;	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the PNPT1 gene on chromosome 2p16.1. [-]
combined oxidative phosphorylation deficiency 14	COXPD14;	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25.1. [-]
combined oxidative phosphorylation deficiency 15	COXPD15;	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in the MTFMT gene on chromosome 15q22.31. [-]
combined oxidative phosphorylation deficiency 16	COXPD16; infantile hypertrophic cardiomyopathy due.. [+] COXPD16; infantile hypertrophic cardiomyopathy due to MRPL44 deficiency; [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compund heterozygous mutation in the MRPL44 gene on chromosome 2q36.1. [-]
combined oxidative phosphorylation deficiency 17	COXPD17;	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ELAC2 gene on chromosome 17p12. [-]
combined oxidative phosphorylation deficiency 18	COXPD18; growth and developmental delay-hypotonia-.. [+] COXPD18; growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome; [-]	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26.11. [-]
combined oxidative phosphorylation deficiency 19	COXPD19; severe neonatal lactic acidosis due to NF.. [+] COXPD19; severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency; [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the LYRM4 gene on chromosome 6p25.1. [-]
combined oxidative phosphorylation deficiency 2	agenesis of corpus callosum with dysmorphism and f.. [+] agenesis of corpus callosum with dysmorphism and fatal lactic acidosis; COXPD2; [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS16 gene on chromosome 10q22.2. [-]
combined oxidative phosphorylation deficiency 20	COXPD20;	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the VARS2 gene on chromosome 6p21.33. [-]
combined oxidative phosphorylation deficiency 21	COXPD21;	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by axial hypotonia, limb hypertonia, psychomotor delay, and hyperlactatemia that has_material_basis_in homozygous or compound heterozygous mutation in the TARS2 gene on chromosome 1q21.2. [-]
combined oxidative phosphorylation deficiency 22	COXPD22;	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5A1 gene on chromosome 18q21.1. [-]
combined oxidative phosphorylation deficiency 23	COXPD23;	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the GTPBP3 gene on chromosome 19p13.11. [-]
combined oxidative phosphorylation deficiency 24	COXPD24;	A combined oxidative phosphorylation deficiency ty..[+] A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1. [-]
combined oxidative phosphorylation deficiency 25	COXPD25;	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MARS2 gene on chromosome 2q33.1. [-]
combined oxidative phosphorylation deficiency 26	COXPD26;	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT5 gene on chromosome 14q23.1. [-]
combined oxidative phosphorylation deficiency 27	COXPD27;	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CARS2 gene on chromosome 13q34. [-]
combined oxidative phosphorylation deficiency 28	COXPD28; neonatal severe cardiopulmonary failure d.. [+] COXPD28; neonatal severe cardiopulmonary failure due to mitochondrial methylation defect; [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A26 gene on chromosome 3p14.1. [-]
combined oxidative phosphorylation deficiency 29	COXPD29;	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TXN2 gene on chromosome 22q12.3. [-]
combined oxidative phosphorylation deficiency 3	concentric cardiomyopathy, hypotonia, and lactic a.. [+] concentric cardiomyopathy, hypotonia, and lactic acidosis; COXPD3; encephalomyopathy, respiratory failure, and lactic acidosis; fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3; Fatal mitochondrial disease due to COXPD3; [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TSFM gene on chromosome 12q14.1. [-]
combined oxidative phosphorylation deficiency 30	COXPD30;	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT10C gene on chromosome 3q12.3. [-]
combined oxidative phosphorylation deficiency 31	COXPD31; lethal left ventricular non-compaction-se.. [+] COXPD31; lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome; [-]	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that has_material_basis_in homozygous or compound heterozygous mutation in the MIPEP gene on chromosome 13q12.12. [-]
combined oxidative phosphorylation deficiency 32	COXPD32;	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS34 gene on chromosome 16p13.3. [-]
combined oxidative phosphorylation deficiency 33	COXPD33;	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the C1QBP gene on chromosome 17p13.2. [-]
combined oxidative phosphorylation deficiency 34	COXPD34; syndromic sensorineural deafness due to c.. [+] COXPD34; syndromic sensorineural deafness due to combined oxidative phosphorylation defect; syndromic sensorineural deafness due to COXPD; syndromic sensorineural hearing loss due to COXPD; [-]	A combined oxidative phosphorylation deficiency ty..[+] A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS7 gene on chromosome 17q25.1. [-]
combined oxidative phosphorylation deficiency 35	COXPD35;	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the TRIT1 gene on chromosome 1p34.2. [-]
combined oxidative phosphorylation deficiency 36	COXPD36;	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS2 gene on chromosome 9q34.3. [-]
combined oxidative phosphorylation deficiency 38	COXPD38;	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS14 gene on chromosome 1q25.1. [-]
combined oxidative phosphorylation deficiency 39	COXPD39;	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM2 gene on chromosome 5q13.3. [-]
combined oxidative phosphorylation deficiency 4	COXPD4;	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TUFM gene on chromosome 16p11.2. [-]
combined oxidative phosphorylation deficiency 40	COXPD40; QRSL1-related COXPD;	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the QRSL1 gene on chromosome 6q21. [-]
combined oxidative phosphorylation deficiency 41	COXPD41;	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATB gene on chromosome 4q31.3. [-]
combined oxidative phosphorylation deficiency 42	COXPD42;	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATC gene on chromosome 12q24.31. [-]
combined oxidative phosphorylation deficiency 43	COXPD43;	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMM22 gene on chromosome 17p13.3. [-]
combined oxidative phosphorylation deficiency 44	COXPD44;	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FASTKD2 gene on chromosome 2q33. [-]
combined oxidative phosphorylation deficiency 45	COXPD45;	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL12 gene on chromosome 17q25.3. [-]
combined oxidative phosphorylation deficiency 46	COXPD46;	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS23 gene on chromosome 17q22. [-]