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

• MESH:C563268
• OMIM:225200
• SNOMEDCT_US_2023_03_01:419237004
• UMLS_CUI:C1644196

Ontology

Human Disease   ( DOID:0111648 )