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ectopia lentis 2, isolated, autosomal recessive

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.
Uniprot Description An ocular abnormality characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation.
Disease Ontology Description An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.
Mondo Term and Equivalent IDs
MONDO:0009152:  ectopia lentis 2, isolated, autosomal recessive
GARD:0002060: 
UMLS:C3541474: