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Echinobase
Summary Literature (0)
DOID:0060743 - methylmalonic acidemia cblB type

Disease Ontology Definition:A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24.

Synonyms: methylmalonic aciduria cb1B type, methylmalonic aciduria cblB type, methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type,

Echinobase Genes : mmab


OMIM:
MIM:251110 - methylmalonic aciduria, cblb type

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): methylmalonic acidemia (is_a)