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Disease	Synonyms	Description	Articles	Phenotypes
nuclear type mitochondrial complex I deficiency 13	MC1DN13	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA2 gene on chromosome 5q31.3. [-]
nuclear type mitochondrial complex I deficiency 24	MC1DN24	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB9 gene on chromosome 8q24.13. [-]
nuclear type mitochondrial complex I deficiency 32	MC1DN32	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB8 gene on chromosome 10q24.31. [-]
nuclear type mitochondrial complex I deficiency 29	MC1DN29	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126B gene on chromosome 11q14.1. [-]
nuclear type mitochondrial complex I deficiency 7	MC1DN7	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV2 gene on chromosome 18p11.22. [-]
nuclear type mitochondrial complex I deficiency 16	MC1DN16	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF5 gene on chromosome 20p12.1. [-]
nuclear type mitochondrial complex I deficiency 12	MC1DN12	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFA1 gene on chromosome Xq24. [-]
corpus callosum agenesis-abnormal genitalia syndrome	microcephaly-corpus callosum agenesis-abnormal gen.. [+] microcephaly-corpus callosum agenesis-abnormal genitalia syndrome; ACC with abnormal genitalia; corpus callosum agenesis with abnormal genitalia; Proud syndrome; Proud-Levine-Carpenter syndrome [-]	A syndrome characterized by agenesis of the corpus..[+] A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3. [-]
homocystinuria-megaloblastic anemia cblG type	methylcobalamin deficiency, cblG type; HMAG; homoc.. [+] methylcobalamin deficiency, cblG type; HMAG; homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type; homocystinuria-megaloblastic anemia, cblG complementation type [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTR on chromosome 1q43. [-]

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