Visualize Submit Comment
Metadata
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

OMIM:225100

Synonyms

ECTOL2 [EXACT]

Parent Relationships

is_a isolated ectopia lentis

is_a autosomal recessive disease

Add an item to the term tracker