Metabolism of Cobalamin associated C

Preferred Label : Metabolism of Cobalamin associated C;

Symbol : MMACHC;

CISMeF acronym : MMACHC;

Type : Gene;

Ensembl ID : ENSG00000132763;

Prefixed ID : *609831;

Details

Origin ID

609831;

UMLS CUI

C1826260;

Automatic exact mappings (from CISMeF team)
- metabolism of cobalamin associated C [ORDO Gene]
- metabolism of cobalamin associated C [HGNC gene]
HGNC gene
- metabolism of cobalamin associated C [HGNC gene]
NCIt concept(s)
- Cyanocobalamin Reductase / Alkylcobalamin Dealkylase [NCIt concept]
- MMACHC Gene [NCIt concept]
- MMACHC wt Allele [NCIt concept]
ORDO concept(s)
- metabolism of cobalamin associated C [ORDO Gene]
Phenotypes related
- Methylmalonic aciduria and homocystinuria, cblc type [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- MMACHC Gene [NCIt concept]
- MMACHC gene [LOINC component]
- metabolism of cobalamin associated C [HGNC gene]

Keyword's position in hierarchy(ies) :

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