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ectopia lentis 1, isolated, autosomal dominant

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any isolated ectopia lentis in which the cause of the disease is a mutation in the FBN1 gene.
Uniprot Description An ocular abnormality characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation.
Disease Ontology Description An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.
Mondo Term and Equivalent IDs
MONDO:0007514:  ectopia lentis 1, isolated, autosomal dominant
UMLS:C3541518: