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Disease	Synonyms	Description
CODAS syndrome	cerebral, ocular, dental, auricular, and skeletal .. [+] cerebral, ocular, dental, auricular, and skeletal syndrome; cerebro-oculo-dento-auriculo-skeletal syndrome [-]	A syndrome characterized by developmental delay, a..[+] 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. [-]
combined saposin deficiency	combined SAP deficiency; encephalopathy due to pro.. [+] combined SAP deficiency; encephalopathy due to prosaposin deficiency; PSAPD [-]	A sphingolipidosis characterized by absence of exp..[+] A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or compound heterozygous mutation in PSAP on 10q22.1. [-]
congenital leptin deficiency	LEPD; morbid obesity; obesity due to congenital le.. [+] LEPD; morbid obesity; obesity due to congenital leptin deficiency; leptin deficiency or dysfunction [-]	A syndrome characterized by severe early-onset obe..[+] A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1. [-]
craniofacial-deafness-hand syndrome	CDHS; Sommer-Young-Wee-Frye syndrome	A syndrome characterized by a flat facial profile,..[+] A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.1. [-]
cholesterol-ester transfer protein deficiency	CEPT deficiency; familial hyperalphalipoproteinemi.. [+] CEPT deficiency; familial hyperalphalipoproteinemia [-]	A lipid metabolism disorder characterized by eleva..[+] A lipid metabolism disorder characterized by elevated levels of alpha-lipoprotein in the blood. [-]
congenital dyserythropoietic anemia type I	Congenital dyserythropoietic anemia type 1; congen.. [+] Congenital dyserythropoietic anemia type 1; congenital dyserythropoietic anaemia type I; Congenital dyserythropoietic anaemia type 1; CDA type I; CDA type 1; CDA I [-]	A congenital dyserythropoietic anemia characterize..[+] A congenital dyserythropoietic anemia characterized by autosomal recessive inheritance of macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. [-]
congenital dyserythropoietic anemia type Ib	CDAN1B; CDA, type Ib	A congenital dyserythropoietic anemia type I that ..[+] A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in C15orf41 on chromosome 15q14. [-]
congenital dyserythropoietic anemia type Ia	CDAN1A; CDA Ia	A congenital dyserythropoietic anemia type I that ..[+] A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in the CDAN1 gene on chromosome 15q15.2. [-]
congenital dyserythropoietic anemia type III	congenital dyserythropoietic anaemia type III; Con.. [+] congenital dyserythropoietic anaemia type III; Congenital dyserythropoietic anaemia type 3; CDA type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDAN3; CDA III; anaemia with multinucleated erythroblasts; anemia with multinucleated erythroblasts; hereditary benign erythroreticulosis [-]	A congenital dyserythropoietic anemia characterize..[+] A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts that has_material_basis_in heterozygous mutation in an 11 cM interval within chromosome 15q21-q25. [-]
congenital dyserythropoietic anemia type IV	CDA type 4; Congenital dyserythropoietic anemia ty.. [+] CDA type 4; Congenital dyserythropoietic anemia type 4; Congenital dyserythropoietic anaemia due to KLF1 mutation; Congenital dyserythropoietic anaemia type 4; CDA due to KLF1 mutation; Congenital dyserythropoietic anemia due to KLF1 mutation; congenital dyserythropoietic anaemia type IV; CDAN4; CDA type IV; CDA IV [-]	A congenital dyserythropoietic anemia characterize..[+] A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in the KLF1 gene on chromosome 19p13.13. [-]
congenital dyserythropoietic anemia type II	Congenital dyserythropoietic anemia type 2; CDAN2; .. [+] CDAN2; Congenital dyserythropoietic anemia type 2; CDA type 2; congenital dyserythropoietic anaemia type II; Congenital dyserythropoietic anaemia type 2; CDA type II; CDA II; Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas); SEC23B-CDG [-]	A congenital dyserythropoietic anemia characterize..[+] A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in the SEC23B gene on chromosome 20p11.23. [-]
classic galactosemia	galactose-1-phosphate uridyltransferase deficiency.. [+] galactose-1-phosphate uridyltransferase deficiency; galactosemia type 1; GALT deficiency [-]	A galactosemia that has_material_basis_in homozygo..[+] A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALT gene on chromosome 9p13.3. [-]
cardiofaciocutaneous syndrome 1	CFC1	A cardiofaciocutaneous syndrome that has_material_..[+] A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34. [-]
cardiofaciocutaneous syndrome 2	CFC2	A cardiofaciocutaneous syndrome that has_material_..[+] A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the KRAS gene on chromosome 12p12.1. [-]
cardiofaciocutaneous syndrome 3	CFC3	A cardiofaciocutaneous syndrome that has_material_..[+] A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAP2K1 gene on chromosome 15q22.31. [-]
cardiofaciocutaneous syndrome 4	CFC4	A cardiofaciocutaneous syndrome that has_material_..[+] A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAPK2K2 gene on chromosome 19p13.3. [-]
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 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 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 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 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 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 compound heterozygous mutation in the MRPL44 gene on chromosome 2q36.1. [-]
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 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 9	COXPD9	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL3 gene on chromosome 3q22.1. [-]
combined oxidative phosphorylation deficiency 5	COXPD5; hypotonia with lactic acidemia and hyperam.. [+] COXPD5; hypotonia with lactic acidemia and hyperammonemia [-]	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS22 gene on chromosome 3q23. [-]
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 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 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 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 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 8	COXPD8	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in the AARS2 gene on chromosome 6p21.1. [-]
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 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 2	COXPD2; agenesis of corpus callosum with dysmorphi.. [+] COXPD2; agenesis of corpus callosum with dysmorphism and fatal lactic acidosis [-]	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 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 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 3	COXPD3; concentric cardiomyopathy, hypotonia, and .. [+] COXPD3; concentric cardiomyopathy, hypotonia, and lactic acidosis; 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 7	COXPD7; severe C12ORF65-related combined oxidative.. [+] COXPD7; severe C12ORF65-related combined oxidative phosphorylation defect; severe C12ORF65-related COXPD [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31. [-]
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 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 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 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 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 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 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 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 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 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. [-]