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Human Disease and Mouse Model Detail
Human Disease Methylmalonic Aciduria and Homocystinuria, CblC Type
OMIM ID: 277400
Human Phenotype Ontology associations
Synonyms Methylmalonic Acidemia and Homocystinuria, Cblc Type; Methylmalonic Aciduria and Homocystinuria; Methylmalonic Aciduria and Homocystinuria, Vitamin B12-Responsive; Vitamin B12 Metabolic Defect with Combined Deficiency of Methylmalonyl-Coa Mutase and Homocysteine:methyltetrahydrofolate Methyltransferase
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     MMACHC* Mmachc   HomoloGene and HGNC

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.07
The Jackson Laboratory