Deoxyguanosine kinase deficiency

Preferred Label : Deoxyguanosine kinase deficiency;

ICD-11 definition : This refers to deficiency in the two substrates of this enzyme are ATP and deoxyguanosine, whereas its two products are ADP and dGMP.;

Details

Origin ID

1041035192;

UMLS CUI

C3711385;

Automatic exact mappings (from CISMeF team)
- mitochondrial DNA depletion syndrome 3 [DO Concept]
Currated CISMeF NLP mapping
- Mitochondrial DNA depletion syndrome, hepatocerebral form [ORDO Disease]
- deoxyguanosine kinase deficiency [MeSH concept]
- deoxyguanosine kinase deficiency [MeSH Supplementary Concept]
- hepatocerebral form of mitochondrial DNA depletion syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mitochondrial DNA depletion syndrome, hepatocerebral form [ORDO Disease]
- deoxyguanosine kinase deficiency [MeSH concept]
- deoxyguanosine kinase deficiency [MeSH Supplementary Concept]
- hepatocerebral form of mitochondrial DNA depletion syndrome [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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