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DOID:0050717 - methylmalonic aciduria and homocystinuria type cblF
Disease Ontology Definition:A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has_material_basis_in homozygous or compound heterozygous mutation in the LMBRD1 gene on chromosome 6q13.
Synonyms: Cobalamin F deficiency, MAHCF
Xenbase Genes
:
lmbrd1
| MONDO:0010183 - liver trabecula |
| MIM:277380 - METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE; MAHCF |
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)