Lactate dehydrogenase b deficiency

Preferred Label : Lactate dehydrogenase b deficiency;

Symbol : LDHBD;

CISMeF acronym : LDHBD;

Type : Phenotype, molecular basis known;

Prefixed ID : #614128;

Details

Origin ID

614128;

UMLS CUI

C3279904;

Automatic exact mappings (from CISMeF team)
- Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency [ORDO Disease]
- Glycogen storage disease due to lactate dehydrogenase deficiency [ORDO Disease]
- Reduced lactate dehydrogenase B level [HPO term]
- lactate dehydrogenase deficiency [MeSH concept]
Currated CISMeF NLP mapping
- lactate dehydrogenase B deficiency [MeSH concept]
- lactate dehydrogenase B deficiency [MeSH Supplementary Concept]
Genes related to phenotype
- Lactate dehydrogenase b [OMIM gene]
HPO term(s)
- Reduced lactate dehydrogenase B level [HPO term]
ORDO concept(s)
- Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency [ORDO Disease]
- Glycogen storage disease due to lactate dehydrogenase deficiency [ORDO Disease]
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]
- Reduced lactate dehydrogenase B level [HPO term]
- lactate dehydrogenase B deficiency [MeSH Supplementary Concept]
- lactate dehydrogenase B deficiency [MeSH concept]
Validated automatic mappings to NTBT
- lactate dehydrogenase deficiency [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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