Pyruvate dehydrogenase e1-beta deficiency

Preferred Label : Pyruvate dehydrogenase e1-beta deficiency;

Symbol : PDHBD;

CISMeF acronym : PDHBD;

Type : Phenotype, molecular basis known;

Prefixed ID : #614111;

Details

Origin ID

614111;

UMLS CUI

C3279841;

Currated CISMeF NLP mapping
- Pyruvate dehydrogenase E1-beta deficiency [ORDO Disease]
- pyruvate dehydrogenase E1-Beta deficiency [MeSH concept]
- pyruvate dehydrogenase E1-Beta deficiency [MeSH Supplementary Concept]
DO Cross reference
- pyruvate decarboxylase deficiency [DO Concept]
Genes related to phenotype
- Pyruvate dehydrogenase e1, subunit beta [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Autosomal recessive inheritance [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperammonemia [HPO term]
- Hyporeflexia [HPO term]
- Lactic acidosis [HPO term]
ORDO concept(s)
- Pyruvate dehydrogenase E1-beta deficiency [ORDO Disease]
- Pyruvate dehydrogenase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pyruvate dehydrogenase E1-beta deficiency [ORDO Disease]
- pyruvate dehydrogenase E1-Beta deficiency [MeSH Supplementary Concept]
- pyruvate dehydrogenase E1-Beta deficiency [MeSH concept]

Keyword's position in hierarchy(ies) :

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