Sneddon syndrome

Term ID

DOID:13096

Synonyms

• Idiopathic livedo reticularis with systemic involvement

Definition

An artery disease that is characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood and that has_material_basis_in compound heterozygous mutation in the CECR1 gene (ADA2) on chromosome 22q11. https://pubmed.ncbi.nlm.nih.gov/25075847/

References

• GARD:7664
• MESH:D018860
• OMIM:182410
• SNOMEDCT_US_2023_03_01:716745004
• UMLS_CUI:C0282492

Ontology

Human Disease   ( DOID:13096 )