phosphomannomutase 2

Preferred Label : phosphomannomutase 2;

Approved symbol HGNC : PMM2;

Name synonyms HGNC : Congenital disorder of glycosylation; type Ia; mannose-6-phosphate isomerase; phosphomannose isomerase 1;

Alias symbols HGNC : PMI1; CDGS; CDG1a; PMI;

Chromosome HGNC : 16p13.2;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000140650;

Details

Origin ID

HGNC:9115;

UMLS CUI

C1418674;

Automatic exact mappings (from CISMeF team)
- Carbohydrate-Deficient Glycoprotein Syndrome [NCIt concept]
- Congenital disorder of glycosylation [ORDO Disease]
- Mannose-6-Phosphate isomerase [MeSH concept]
- Mannose-6-phosphate isomerase (substance) [SNOMED CT concept]
- Mannosephosphate isomerase [OMIM gene]
- Phosphomannomutase 2 [OMIM gene]
- mannose phosphate isomerase [ORDO Gene]
- mannose-6-phosphate isomerase [SNOMED Notion]
- mannose-6-phosphate isomerase [MeSH Descriptor]
- phosphomannomutase 2 [ORDO Gene]
NCIt concept
- PMM2 Gene [NCIt concept]
OMIM gene
- Phosphomannomutase 2 [OMIM gene]
Orphanet gene
- phosphomannomutase 2 [ORDO Gene]
See also inter- (CISMeF)
- Mannose-6-phosphate isomerase [LOINC component]
- Phosphomannomutase 2 [LOINC component]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- PMM2 Gene [NCIt concept]
- PMM2 gene [LOINC component]
- Phosphomannomutase 2 [OMIM gene]

Keyword's position in hierarchy(ies) :

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