Methylmalonic Aciduria, cblB Type

Preferred Label : Methylmalonic Aciduria, cblB Type;

NCIt definition : An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial.;

Details

Origin ID

C142172;

UMLS CUI

C1855102;

Currated CISMeF NLP mapping
- Methylmalonic aciduria cblB type [MeSH concept]
- Methylmalonic aciduria, cblb type [OMIM Phenotype]
- Vitamin B12 responsive methylmalonic aciduria type cbl B [ICD-11 More detail]
- Vitamin B12-responsive methylmalonic acidemia type cblB [ORDO Disease]
- methylmalonic acidemia cblB type [DO Concept]
- methylmalonic aciduria cblB type [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Methylmalonic aciduria cblB type [MeSH concept]
- Methylmalonic aciduria, cblb type [OMIM Phenotype]
- Vitamin B12 responsive methylmalonic aciduria type cbl B [ICD-11 More detail]
- Vitamin B12-responsive methylmalonic acidemia type cblB [ORDO Disease]
- methylmalonic acidemia cblB type [DO Concept]
- methylmalonic aciduria cblB type [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- methylmalonic acidemia [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MMAB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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