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

Echinobase 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

MIM:

MIM:277410 - methylmalonic aciduria and homocystinuria, cbld type

MIM:277410 - methylmalonic aciduria and homocystinuria, cbld 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)