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Metadata
ID	DOID:0111648
Name	ectopia lentis with ectopia of pupil
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. https://www.ncbi.nlm.nih.gov/pubmed/20702823, https://www.ncbi.nlm.nih.gov/pubmed/7696232
Xrefs	MESH:C563268 MIM:225200 SNOMEDCT_US_2023_03_01:419237004 UMLS_CUI:C1644196
Synonyms	ectopia lentis et pupillae [EXACT]
Parent Relationships	is_a eye disease is_a autosomal recessive disease