FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal recessive isolated ectopia lentis 2 ID (Ontology) DOID:0111149 (Human Disease)
Definition An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.
Also Known As "ECTOL2"
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 Genes
 autosomal recessive isolated ectopia lentis 2       1
 for disease ribbon | autosomal recessive isolated ectopia lentis 2       1
 model of | autosomal recessive isolated ectopia lentis 2       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease__
lens disease                     |
 |__isolated ectopia lentis______|
                                 autosomal recessive isolated ectopia lentis 2  1 rec.
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Is a autosomal recessive disease
isolated ectopia lentis
Part of
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Synonyms
  • "ECTOL2" EXACT OMO:0003012
Secondary IDs
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MIM:225100