Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

fibrillin 1
Synonyms

Marfan syndrome

asprosin

MASS

OCTD

SGS

ID

http://www.orpha.net/ORDO/Orphanet_121752

alternative_term

Marfan syndrome

asprosin

MASS

OCTD

SGS

hasDbXref

OMIM:134797

SwissProt:P35555

Reactome:P35555

Genatlas:FBN1

ClinVar:FBN1

Ensembl:ENSG00000166147

HGNC:3603

label

fibrillin 1

prefixIRI

ORDO:Orphanet_121752

prefLabel

fibrillin 1

symbol

FBN1

subClassOf

http://www.orpha.net/ORDO/Orphanet_410298

Delete Subject Author Type Created
No notes to display