Metadata | |
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ID | DOID:0111150 |
Name | autosomal dominant isolated ectopia lentis 1 |
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 |
Xrefs | |
Synonyms |
ECTOL1 [EXACT] |
Parent Relationships |