Search Ontology:
Human Disease

arterial tortuosity-bone fragility syndrome

Term ID
DOID:0070845
Synonyms
  • ATBFS
Definition
A syndrome characterized by congenital severe tortuosity of the aorta and its side branches, including the carotid, pulmonary, and subclavian arteries, and prenatal and neonatal fractures that has_material_basis_in homozygous or compound heterozygous mutation in the EMILIN1 gene on chromosome 2p23. https://pubmed.ncbi.nlm.nih.gov/36351433/
References
Ontology
Human Disease   ( DOID:0070845 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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