Version: 8.0.0
Date: Tue Jan 28 2025
3 results
Disease Genes: Mmab (Mmu)

inherited metabolic disorder

Disease
Source: DOID:655
Definition: A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
Genes: Mmab (Mmu)

methylmalonic acidemia

Disease
Source: DOID:14749
Definition: An organic acidemia that involves an accumulation of methylmalonic acid in the blood.
Genes: Mmab (Mmu)

methylmalonic acidemia cblB type

Disease
Source: DOID:0060743
Definition: A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24.
Genes: Mmab (Mmu)