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Human Disease

ectopia lentis with ectopia of pupil

Term ID
DOID:0111648
Synonyms
  • ectopia lentis et pupillae
Definition
An eye disease characterized by displacement of the lenses and the pupils in association with other ocular anomalies that has_material_basis_in homozygous or compound heterozygous mutation mutation in the ADAMTSL4 gene on chromosome 1q21.2. (2)
References
Ontology
Human Disease   ( DOID:0111648 )
Relationships
is a type of
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Genes Involved
Zebrafish Models