Human Disease and Mouse Model Detail
|
Human Disease
|
Methylmalonic Aciduria and Homocystinuria, CblF Type
OMIM ID: 277380
|
|
Synonyms
|
Cobalamin F Disease; CBLF;
Cobalamin, Defect in Lysosomal Release of;
Methylmalonic Acidemia and Homocystinuria, Cblf Type;
Methylmalonic Aciduria Due to Vitamin B12-Release Defect;
Vitamin B12 Lysosomal Release Defect;
Vitamin B12 Storage Disease
|
Genes and
mouse models
|
Mutations in human and/or mouse homologs are associated with this disease
| |
|
|
*Gene is associated with the disease in this species |
| |
|
|
 | | |
Lmbrd1
|
LMBRD1*
|
|
1:1 Homology
|
|
Analysis Tools