OBO ID: DOID:13096
Term Name: Sneddon syndrome Search Ontology:
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:
Ontology: Human Disease   ( DOID:13096 )
Relationships
is a type of:
OTHER Sneddon syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ADA2 Sneddon syndrome 182410
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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