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DO Term : Marfan syndrome [DOID:14323] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.

synonyms:
OMIM:154700,
GARD:6975,
Marfan's syndrome,
MESH:D008382,
SNOMEDCT_US_2023_03_01:19346006,
NCI:C34807,
ICD9CM:759.82,
UMLS_CUI:C0024796,
ICD10CM:Q87.4,
154700

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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