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About: methylmalonic aciduria and homocystinuria type cblG     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
type
subClassOf
label
  • methylmalonic aciduria and homocystinuria type cblG
described by
id
  • DOID:0050733
created_by
  • lschriml
creation_date
  • 2012-07-17T01:42:35Z
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
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