Search Ontology:
Human Disease

methylmalonic aciduria and homocystinuria type cblF

Term ID
DOID:0050717
Synonyms
  • Cobalamin F deficiency
  • MAHCF
Definition
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. https://www.ncbi.nlm.nih.gov/pubmed/21910240
References
Ontology
Human Disease   ( DOID:0050717 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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