Search Ontology:
Human Disease

autosomal dominant isolated ectopia lentis 1

Term ID
DOID:0111150
Synonyms
  • ECTOL1
Definition
An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21. https://www.ncbi.nlm.nih.gov/pubmed/15054843
References
Ontology
Human Disease   ( DOID:0111150 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations