All terms in DOID

Label Id Description
nuclear type mitochondrial complex I deficiency 34 DOID_0112091 [A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF8 gene on chromosome 17q25.3.]
nuclear type mitochondrial complex I deficiency 27 DOID_0112090 [A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22.31.]
nuclear type mitochondrial complex I deficiency 24 DOID_0112079 [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 17 DOID_0112078 [A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF6 gene on chromosome 8q22.1.]
nuclear type mitochondrial complex I deficiency 15 DOID_0112077 [A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF4 gene on chromosome 6q16.1.]
nuclear type mitochondrial complex I deficiency 13 DOID_0112076 [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 10 DOID_0112075 [A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF2 gene on chromosome 5q12.1.]
nuclear type mitochondrial complex I deficiency 1 DOID_0112074 [A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS4 gene on chromosome 5q11.2.]
nuclear type mitochondrial complex I deficiency 9 DOID_0112073 [A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS6 gene on chromosome 5p15.33.]
nuclear type mitochondrial complex I deficiency 20 DOID_0112072 [A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in the ACAD9 gene on chromosome 3q21.3.]
susceptibility to endometriosis MIM_131200
Aedes japonicus NCBITaxon_140438
Finlaya NCBITaxon_53542
nuclear type mitochondrial complex I deficiency 4 DOID_0112082 [A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV1 gene on chromosome 11q13.2.]
nuclear type mitochondrial complex I deficiency 8 DOID_0112081 [A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS3 gene on chromosome 11p11.2.]
nuclear type mitochondrial complex I deficiency 32 DOID_0112080 [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.]
susceptibility to dyslexia 9 MIM_300509
tricuspid valve insufficiency DOID_4080 [A tricuspid valve disease that is characterized by failure of the heart's tricuspid valve to close properly during systole. As a result, with each heart beat, blood is pumped out from the right side of the heart in the opposite direction to normal.]
bile duct cystadenocarcinoma DOID_4075
obsolete metastasizing mixed tumor of salivary gland DOID_4077