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, MAHCD,

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

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

: mmadhc

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010185 - methylmalonic aciduria and homocystinuria type cblD

MONDO:0010185 - methylmalonic aciduria and homocystinuria type cblD

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)