methylmalonic aciduria and homocystinuria type cblD

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Summary

Literature (0)

DOID:0050716 - methylmalonic aciduria and homocystinuria type cblD

Disease Ontology Definition:A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities.

Synonyms: Cobalamin D deficiency,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: mmadhc

OMIM:

MIM:277410 - methylmalonic aciduria and homocystinuria, cbld type

MIM:277410 - methylmalonic aciduria and homocystinuria, cbld 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)