NHL repeat containing E3 ubiquitin protein ligase 1

Preferred Label : NHL repeat containing E3 ubiquitin protein ligase 1;

Approved symbol HGNC : NHLRC1;

Name synonyms HGNC : epilepsy; progressive myoclonus type 2B; malin;

Alias symbols HGNC : EPM2B; bA204B7.2;

Chromosome HGNC : 6p22.3;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000187566;

Détails

Origin ID

HGNC:21576;

UMLS CUI

C1427623;

Automatic exact mappings (from CISMeF team)
- EPILEPSY [WHO-ART Included Term]
- Epilepsy [LOINC component]
- Epilepsy [LOINC method]
- Epilepsy [ICPC-2 Rubric]
- Epilepsy [HPMULTI term]
- Epilepsy [MedDRA Preferred Term]
- Epilepsy [PASCAL descriptor]
- Epilepsy (disorder) [SNOMED CT concept]
- NHL repeat containing E3 ubiquitin protein ligase 1 [ORDO Gene]
- Nhl repeat-containing protein 1 [OMIM gene]
- Seizure [HPO term]
- Seizure Disorder [NCIt concept]
- aluminum magnesium silicate [MeSH Supplementary Concept]
- epilepsy [MeSH Descriptor]
- epilepsy [DO Concept]
- epilepsy [MeSH concept]
- epilepsy [MedlinePlus Topic]
- malinal [MeSH concept]
NCIt concept
- NHLRC1 Gene [NCIt concept]
OMIM gene
- Nhl repeat-containing protein 1 [OMIM gene]
Orphanet gene
- NHL repeat containing E3 ubiquitin protein ligase 1 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Nhl repeat-containing protein 1 [OMIM gene]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients