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DO Term : methylmalonic aciduria and homocystinuria type cblF [DOID:0050717] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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,
OMIM:277380,
MAHCF,
277380

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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