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Ontology Browser
Term:
methylmalonic aciduria and homocystinuria type cblF (DOID:0050717)
Annotations: Rat: (3) Mouse: (3) Human: (3) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3) Pig: (3) Naked Mole-rat: (3) Green Monkey: (3)
Parent Terms Term With Siblings Child Terms
methylmalonic acidemia and homocysteinemia cblX type  
methylmalonic aciduria and homocystinuria type cblC  
methylmalonic aciduria and homocystinuria type cblD  
methylmalonic aciduria and homocystinuria type cblE 
methylmalonic aciduria and homocystinuria type cblF  
A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has_material_basis_in homozygous or compound heterozygous mutation in the LMBRD1 gene on chromosome 6q13. (DO)
methylmalonic aciduria and homocystinuria type cblG  
Methylmalonic Aciduria and Homocystinuria, cblJ Type  

Synonyms
Exact Synonyms: Cobalamin F deficiency ;   MAHCF ;   Methylmalonic Acidemia and Homocystinuria, CblF Type ;   Methylmalonic Aciduria due to Vitamin B12-Release Defect ;   Vitamin B12 Lysosomal Release Defect ;   cblF ;   cobalamin F disease ;   defect in lysosomal release of cobalamin ;   vitamin B12 storage disease
Primary IDs: MESH:C564747
Alternate IDs: OMIM:277380
Xrefs: NCI:C183525
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/21910240 "DO" "DO"

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