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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, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, methylmalonic aciduria cblB type
Echinobase Genes
:
mmab
| MIM:251110 - methylmalonic aciduria, cblb type |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
methylmalonic acidemia (is_a)