Mitochondrial DNA Depletion Syndrome 13

Preferred Label : Mitochondrial DNA Depletion Syndrome 13;

NCIt synonyms : MTDPS13;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the FBXL4 gene, encoding F-box and leucine rich repeat protein 4. It is characterized by early-onset lactic acidosis, growth failure, encephalopathy, hypotonia, and developmental delay.;

NCI Metathesaurus CUI : CL1406224;

Details

Origin ID

C172095;

UMLS CUI

C3809592;

Currated CISMeF NLP mapping
- F-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder) [SNOMED CT concept]
- Mitochondrial dna depletion syndrome 13 (encephalomyopathic type) [OMIM Phenotype]
- mitochondrial DNA depletion syndrome 13 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- F-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder) [SNOMED CT concept]
- Mitochondrial dna depletion syndrome 13 (encephalomyopathic type) [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- FBXL4 Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- FBXL4 Gene [NCIt concept]
- FBXL4 wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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