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Ontology Browser
Term:
methylmalonic aciduria and homocystinuria type cblG (DOID:0050733)
Annotations: Rat: (1) Mouse: (1) Human: (3) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
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  
methylmalonic aciduria and homocystinuria type cblG  
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 MTR gene on chromosome 1q43 that causes an inborn error of vitamin B12 metabolism. (DO)
Methylmalonic Aciduria and Homocystinuria, cblJ Type  

Synonyms
Exact Synonyms: HMAG ;   HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE ;   Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblG Complementation Type ;   METHIONINE SYNTHASE DEFICIENCY ;   methylcobalamin deficiency type CblG
Primary IDs: MESH:C565394
Alternate IDs: OMIM:250940
Xrefs: EFO:0005597 ;   ORDO:2170
Definition Sources: https://rarediseases.info.nih.gov/diseases/3584/methylmalonic-acidemia-with-homocystinuria-type-cblf "DO" "DO", https://www.omim.org/entry/250940 "DO" "DO"

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