OBO ID: DOID:14323
Term Name: Marfan syndrome Search Ontology:
Synonyms:
  • Marfan's syndrome
Definition: A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens. (3)
References:
  • GARD:6975
  • ICD10CM:Q87.4
  • ICD9CM:759.82
  • MESH:D008382
  • NCI:C34807
  • OMIM:154700
  • SNOMEDCT_US_2023_03_01:19346006
  • UMLS_CUI:C0024796
Ontology: Human Disease   ( DOID:14323 )
Relationships
is a type of:
OTHER Marfan syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FBN1 Marfan syndrome 154700
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)
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