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ectopia lentis with ectopia of pupil
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease eye disease
External Links
- Disease Ontology
- DOID:0111648
- Mondo Disease Ontology
- MeSH
- UMLS
- OMIM
