lactate dehydrogenase B deficiency

Preferred Label : lactate dehydrogenase B deficiency;

MeSH note : mutation in LDHB;

Origin ID

C563641;

UMLS CUI

C3279904;

Automatic exact mappings (from CISMeF team)
- Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency [ORDO Disease]
- Reduced lactate dehydrogenase B level [HPO term]
Currated CISMeF NLP mapping
- Lactate dehydrogenase b deficiency [OMIM Phenotype]
HPO term
- Reduced lactate dehydrogenase B level [HPO term]
MeSH term(s) associated for indexing
- L-Lactate dehydrogenase [MeSH Descriptor]
- metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- lactate dehydrogenase B deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency [ORDO Disease]
- Lactate dehydrogenase b deficiency [OMIM Phenotype]
- Reduced lactate dehydrogenase B level [HPO term]