OBO ID: DOID:0050732
Term Name: methylmalonic aciduria and homocystinuria type cblE Search Ontology:
Synonyms:
Definition: A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15 that causes inborn error of vitamin B12 metabolism. (2)
References:
Ontology: Human Disease   ( DOID:0050732 )
Relationships
is a type of:
OTHER methylmalonic aciduria and homocystinuria type cblE PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.