Methylmalonic Aciduria and Homocystinuria, cblF Type

Preferred Label : Methylmalonic Aciduria and Homocystinuria, cblF Type;

NCIt synonyms : MAHCF;

NCIt definition : An autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the LMBRD1 gene, encoding lysosomal cobalamin transport escort protein LMBD1.;

Details

Origin ID

C183525;

UMLS CUI

C1848578;

Automatic exact mappings (from CISMeF team)
- Methylmalonic acidemia with homocystinuria type cblF [ORDO Disease]
- Methylmalonic aciduria and homocystinuria, cblf type [OMIM Phenotype]
- methylmalonic aciduria and homocystinuria type cblF [DO Concept]
- methylmalonic aciduria and homocystinuria, CblF type [MeSH concept]
- methylmalonic aciduria and homocystinuria, CblF type [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Methylmalonic aciduria - homocystinuria type cbl F [ICD-11 More detail]
- Methylmalonic aciduria and homocystinuria, cblf type [OMIM Phenotype]
- methylmalonic aciduria and homocystinuria, CblF type [MeSH Supplementary Concept]
- methylmalonic aciduria and homocystinuria, CblF type [MeSH 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
- LMBRD1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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