DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY

E3 DEFICIENCY

http://purl.bioontology.org/ontology/OMIM/246900

E3 DEFICIENCY

LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO

DLDD

MAPLE SYRUP URINE DISEASE, TYPE III

DLD DEFICIENCY

C0268193

7q31-q32

DLD

DLDD

PHE3

LAD

http://purl.bioontology.org/ontology/OMIM/MTHU037645

http://purl.bioontology.org/ontology/OMIM/MTHU028190

http://purl.bioontology.org/ontology/OMIM/MTHU036384

http://purl.bioontology.org/ontology/OMIM/MTHU037655

http://purl.bioontology.org/ontology/OMIM/MTHU037649

http://purl.bioontology.org/ontology/OMIM/MTHU037647

http://purl.bioontology.org/ontology/OMIM/MTHU036522

http://purl.bioontology.org/ontology/OMIM/MTHU037654

http://purl.bioontology.org/ontology/OMIM/MTHU037650

http://purl.bioontology.org/ontology/OMIM/MTHU036349

http://purl.bioontology.org/ontology/OMIM/MTHU037652

http://purl.bioontology.org/ontology/OMIM/MTHU036657

http://purl.bioontology.org/ontology/OMIM/MTHU035969

http://purl.bioontology.org/ontology/OMIM/MTHU037648

http://purl.bioontology.org/ontology/OMIM/MTHU037646

http://purl.bioontology.org/ontology/OMIM/MTHU001330

http://purl.bioontology.org/ontology/OMIM/MTHU037643

http://purl.bioontology.org/ontology/OMIM/MTHU037656

http://purl.bioontology.org/ontology/OMIM/MTHU037644

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU000371

http://purl.bioontology.org/ontology/OMIM/MTHU037653

http://purl.bioontology.org/ontology/OMIM/MTHU037651

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU036852

http://purl.bioontology.org/ontology/OMIM/MTHU036658

http://purl.bioontology.org/ontology/OMIM/MTHU015610

http://purl.bioontology.org/ontology/OMIM/MTHU000197

Phenotype description, molecular basis known.

246900

3

pound

DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY

T047