neurofibromin 1

Preferred Label : neurofibromin 1;

Approved symbol HGNC : NF1;

Name synonyms HGNC : Watson disease; neurofibromatosis; von Recklinghausen disease;

Chromosome HGNC : 17q11.2;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000196712;

Details

Origin ID

HGNC:7765;

UMLS CUI

C0085113;

Automatic exact mappings (from CISMeF team)
- NCI CTEP SDC Neurofibromatosis Sub-Category Terminology [NCIt concept]
- Neurofibromas [HPO term]
- Neurofibromatosis [PASCAL descriptor]
- Neurofibromatosis [NCIt concept]
- Neurofibromatosis [MedDRA Preferred Term]
- Neurofibromatosis [ICD-9 code]
- Neurofibromatosis (morphologic abnormality) [SNOMED CT concept]
- Neurofibromatosis Type 1 [NCIt concept]
- Neurofibromatosis type 1 [ICD-11 Sub-sub category]
- Neurofibromatosis type 1 [ORDO Disease]
- Neurofibromatosis type 1 (disorder) [SNOMED CT concept]
- Neurofibromatosis, NOS [ICD-11 Extension code]
- Neurofibromatosis, type I [OMIM Phenotype]
- Neurofibromin 1 [OMIM gene]
- neurofibromatoses [MeSH Descriptor]
- neurofibromatosis [DO Concept]
- neurofibromatosis [Radlex concept]
- neurofibromatosis [MedlinePlus Topic]
- neurofibromatosis 1 [DO Concept]
- neurofibromatosis 1 [MeSH Descriptor]
- neurofibromin 1 [ORDO Gene]
- neurofibromin 1 [MeSH concept]
- neurofibromin 1 [MeSH Descriptor]
NCIt concept
- NF1 Gene [NCIt concept]
OMIM gene
- Neurofibromin 1 [OMIM gene]
Orphanet gene
- neurofibromin 1 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- NF1 Gene [NCIt concept]
- NF1 gene [LOINC component]
- Neurofibromin 1 [OMIM gene]
- genes, neurofibromatosis 1 [MeSH concept]
- genes, neurofibromatosis 1 [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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