Fibrillin 1 - CISMeF

Preferred Label : Fibrillin 1;

Symbol : FBN1;

CISMeF acronym : FBN1;

Type : Gene;

Alternative titles and symbols : Fibrillin; FBN;

Ensembl ID : ENSG00000166147;

Prefixed ID : *134797;

Détails

Origin ID

134797;

UMLS CUI

C1414542;

Automatic exact mappings (from CISMeF team)
- FBN1 Gene [NCIt concept]
- FBN1 gene [LOINC component]
- FBN1 wt Allele [NCIt concept]
- Fibrillin-1 [MeSH Descriptor]
- Fibrillin-1 [NCIt concept]
- Fibrillins [MeSH concept]
- Fibrillins [MeSH Descriptor]
- fibrillin 1 [ORDO Gene]
- fibrillin 1 [HGNC gene]
- microfibril [GO term]
HGNC gene
- fibrillin 1 [HGNC gene]
NCIt concept(s)
- FBN1 Gene [NCIt concept]
- FBN1 wt Allele [NCIt concept]
- Fibrillin-1 [NCIt concept]
- Fibrillin-1 [NCIt concept]
ORDO concept(s)
- fibrillin 1 [ORDO Gene]
Phenotypes related
- Acromicric dysplasia [OMIM Phenotype]
- Ectopia lentis 1, isolated, autosomal dominant [OMIM Phenotype]
- Geleophysic dysplasia 2 [OMIM Phenotype]
- Marfan syndrome [OMIM Phenotype]
- Marfanoid-progeroid-lipodystrophy syndrome [OMIM Phenotype]
- Mass syndrome [OMIM Phenotype]
- Stiff skin syndrome [OMIM Phenotype]
- Weill-marchesani syndrome 2 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- FBN1 Gene [NCIt concept]
- FBN1 gene [LOINC component]
- fibrillin 1 [HGNC gene]

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

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