Visualize Submit Comment
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 ADAMTSL4 on chromosome 1q21.2.
https://www.ncbi.nlm.nih.gov/pubmed/20702823, https://www.ncbi.nlm.nih.gov/pubmed/7696232
Xrefs

MESH:C563268

OMIM:225200

SNOMEDCT_US_2019_09_01:419237004

UMLS_CUI:C1644196

Synonyms

ectopia lentis et pupillae [EXACT]

Parent Relationships

is_a eye disease

is_a autosomal recessive disease

Add an item to the term tracker