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Metadata
DOID DOID:0111149
Name autosomal recessive isolated ectopia lentis 2
Definition An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.
https://www.ncbi.nlm.nih.gov/pubmed/19200529, https://www.ncbi.nlm.nih.gov/pubmed/20141359
Synonyms

ECTOL2 [EXACT]

Xrefs

OMIM:225100

Relationships

is_a isolated ectopia lentis

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