Multiple Mitochondrial Dysfunctions Syndrome Type 3

Preferred Label : Multiple Mitochondrial Dysfunctions Syndrome Type 3;

NCIt synonyms : MMDS3;

NCIt definition : A rare autosomal recessive subtype of mitochondrial dysfunctions syndrome caused by mutation(s) in the IBA57 gene, encoding putative transferase CAF17, mitochondrial. It is characterized by encephalopathy, leukodystrophy and developmental regression.;

NCI Metathesaurus CUI : CL1796028;

Details

Origin ID

C202608;

UMLS CUI

C3809165;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Multiple mitochondrial dysfunctions syndrome 3 [OMIM Phenotype]
- Multiple mitochondrial dysfunctions syndrome type 3 (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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