L-2-HYDROXYGLUTARIC ACIDURIA

L2HGA

http://purl.bioontology.org/ontology/OMIM/236792

L2HGA

L-2-HYDROXYGLUTARIC ACIDEMIA

C1855995

C3888081

14q22.1

L2HGDH

L2HGA

C14orf160

http://purl.bioontology.org/ontology/OMIM/MTHU000288

http://purl.bioontology.org/ontology/OMIM/MTHU036360

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU002752

http://purl.bioontology.org/ontology/OMIM/MTHU036833

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU000870

http://purl.bioontology.org/ontology/OMIM/MTHU012346

http://purl.bioontology.org/ontology/OMIM/MTHU012350

http://purl.bioontology.org/ontology/OMIM/MTHU012344

http://purl.bioontology.org/ontology/OMIM/MTHU012348

http://purl.bioontology.org/ontology/OMIM/MTHU036353

http://purl.bioontology.org/ontology/OMIM/MTHU036517

http://purl.bioontology.org/ontology/OMIM/MTHU012352

http://purl.bioontology.org/ontology/OMIM/MTHU004059

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

http://purl.bioontology.org/ontology/OMIM/MTHU012349

http://purl.bioontology.org/ontology/OMIM/MTHU012353

http://purl.bioontology.org/ontology/OMIM/MTHU012347

http://purl.bioontology.org/ontology/OMIM/MTHU012351

http://purl.bioontology.org/ontology/OMIM/MTHU012345

Phenotype description, molecular basis known.

236792

3

pound

L-2-HYDROXYGLUTARIC ACIDURIA

Onset in infancy or early childhood [MISCELLANEOUS]

Caused by mutation in the L-2-hydroxyglutarate dehydrogenase gene (L2HGDH, 609584.0001) [MOLECULAR BASIS]

T047