fibrillin 1 - CISMeF

Preferred Label : fibrillin 1;

Approved symbol HGNC : FBN1;

Name synonyms HGNC : asprosin; Marfan syndrome;

Alias symbols HGNC : OCTD; MASS; SGS;

Chromosome HGNC : 15q21.1;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000166147;

Details

Origin ID

HGNC:3603;

UMLS CUI

C1414542;

Automatic exact mappings (from CISMeF team)
- Family History of Marfan Syndrome [NCIt concept]
- Fibrillin 1 [OMIM gene]
- Fibrillin-1 [MeSH Descriptor]
- Fibrillin-1 [NCIt concept]
- Marfan Syndrome [NCIt concept]
- Marfan syndrome [OMIM Phenotype]
- Marfan syndrome [ICD-11 Sub-sub category]
- Marfan syndrome [ICD-9 code]
- Marfan syndrome [DO Concept]
- Marfan syndrome [PASCAL descriptor]
- Marfan syndrome [ORDO Disease]
- Marfan's syndrome [MedDRA Preferred Term]
- Marfan's syndrome [ICD-10 Sub-category]
- Marfan's syndrome (disorder) [SNOMED CT concept]
- Shprintzen-goldberg craniosynostosis syndrome [OMIM Phenotype]
- fibrillin 1 [ORDO Gene]
- marfan syndrome [MeSH Descriptor]
- marfan syndrome [MedlinePlus Topic]
- marfan syndrome [MeSH concept]
- marfan's syndrome [SNOMED Notion]
NCIt concept
- FBN1 Gene [NCIt concept]
OMIM gene
- Fibrillin 1 [OMIM gene]
Orphanet gene
- fibrillin 1 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- FBN1 Gene [NCIt concept]
- FBN1 gene [LOINC component]
- Fibrillin 1 [OMIM gene]

Keyword's position in hierarchy(ies) :

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