Term Name: | autosomal dominant isolated ectopia lentis 1 |
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Synonyms: | ECTOL1 |
Definition: | An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21. |
Ontology: | Human Disease [DOID:0111150] ( DOID:0111150 ) |