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Metadata
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

MESH:C536184

OMIM:129600

UMLS_CUI:C1851286

Synonyms

ECTOL1 [EXACT]

Parent Relationships

is_a isolated ectopia lentis

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