OBO ID: DOID:0060741
Term Name: methylmalonic acidemia due to transcobalamin receptor defect Search Ontology:
Synonyms:
  • methylmalonic acidemia, TCblR type
  • methylmalonic aciduria due to transcobalamin receptor defect
Definition: A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene. https://www.ncbi.nlm.nih.gov/pubmed/20524213
References:
Ontology: Human Disease   ( DOID:0060741 )
Relationships
is a type of:
OTHER methylmalonic acidemia due to transcobalamin receptor defect PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CD320 Methylmalonic aciduria, transient, due to transcobalamin receptor defect
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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