Marfan Syndrome - Patient Example
Educational example of a patient with Marfan syndrome showing cardiovascular and skeletal manifestations
Marfan Syndrome - Patient Example
Educational example of a patient with Marfan syndrome showing cardiovascular and skeletal manifestations
Phenopacket ID
marfan-syndrome-example-1
Subject ID
patient-marfan-001
Diseases
1
Phenotypes
6
Summary
Associated Diseases
Phenotypic Features (showing 6 of 6)
Metadata
Created
2025-11-05T00:00:00Z
Created By
GA4GH Phenopackets Demo
Schema Version
2.0
Subject Information
Id
patient-marfan-001
Sex
MALE
TimeAtLastEncounter
{
"age": {
"iso8601duration": "P25Y"
}
}
Arachnodactyly
HP:0001166
Disproportionate tall stature
HP:0001519
Scoliosis
HP:0002650
Striae distensae
HP:0001065
Mitral valve prolapse
HP:0001634
Aortic dissection
HP:0002647
Onset
P24Y
Marfan syndrome
OMIM:154700
Onset
P8Y