Mitochondrial Short-Chain Enoyl-CoA Hydratase-1 Deficiency

Preferred Label : Mitochondrial Short-Chain Enoyl-CoA Hydratase-1 Deficiency;

NCIt synonyms : ECHS1;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the ECHS1 gene, encoding enoyl-CoA hydratase, mitochondrial. The condition represents a clinical spectrum in which there are multiple phenotypes.;

Details

Origin ID

C174218;

UMLS CUI

C4225391;

Automatic exact mappings (from CISMeF team)
- Enoyl-coa hydratase, short-chain, 1, mitochondrial [OMIM gene]
- enoyl-CoA hydratase, short chain 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mitochondrial short-chain enoyl-coa hydratase 1 deficiency [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- ECHS1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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