Protein o-mannosyltransferase 2

Preferred Label : Protein o-mannosyltransferase 2;

Symbol : POMT2;

CISMeF acronym : POMT2;

Type : Gene;

Ensembl ID : ENSG00000009830;

Prefixed ID : *607439;

Détails

Origin ID

607439;

UMLS CUI

C1426379;

Automatic exact mappings (from CISMeF team)
- POMT2 gene [LOINC component]
- protein O-mannosyltransferase 2 [ORDO Gene]
- protein O-mannosyltransferase 2 [HGNC gene]
HGNC gene
- protein O-mannosyltransferase 2 [HGNC gene]
NCIt concept(s)
- POMT2 Gene [NCIt concept]
- POMT2 wt Allele [NCIt concept]
- Protein O-Mannosyl-Transferase 2 [NCIt concept]
ORDO concept(s)
- protein O-mannosyltransferase 2 [ORDO Gene]
Phenotypes related
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 [OMIM Phenotype]
- Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 2 [OMIM Phenotype]
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- POMT2 Gene [NCIt concept]
- POMT2 gene [LOINC component]
- protein O-mannosyltransferase 2 [HGNC gene]

Position du mot-clé dans l'(les) arborescence(s) :

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