OBO ID: DOID:0050717
Term Name: methylmalonic aciduria and homocystinuria type cblF Search Ontology:
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 methylmalonic aciduria and homocystinuria type cblF PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LMBRD1 Methylmalonic aciduria and homocystinuria, cblF type 277380
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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