Sulfide:quinone oxidoreductase deficiency - CISMeF

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CISMeF

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Sulfide:quinone oxidoreductase deficiencyOMIM Phenotype

Preferred Label : Sulfide:quinone oxidoreductase deficiency;

Symbol : SQORD;

Type : Phenotype, molecular basis known;

Prefixed ID : #619221;

Details

Origin ID

619221;

UMLS CUI

C5543168;

Genes related to phenotype
- Sulfide:quinone oxidoreductase [OMIM gene]
HPO term(s)
- Acute encephalopathy [HPO term]
- Autosomal recessive inheritance [HPO term]
- Coma [HPO term]
- Elevated brain lactate level by MRS [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Lactic acidosis [HPO term]
- Migraine [HPO term]
- Tonic seizure [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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13/05/2025

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