Version: 8.0.0Date: Tue Jan 28 2025
Disease Genes: Mto1 (Mmu)
Source: DOID:0060286
Definition: A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction.
Genes: Mto1 (Mmu)
Disease
Source: DOID:0050563
Definition: An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms.
Genes: Mto1 (Mmu)
Source: DOID:0111480
Definition: 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.
Genes: Mto1 (Mmu)