Metadata | |
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ID | 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 |
Xrefs | |
Synonyms |
ECTOL2 [EXACT] |
Parent Relationships |