|  Help  |  About  |  Contact Us

DO Term : ectopia lentis with ectopia of pupil [DOID:0111648] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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 the ADAMTSL4 gene on chromosome 1q21.2.
  • synonyms:
  • UMLS_CUI:C1644196,
  • SNOMEDCT_US_2023_03_01:419237004,
  • OMIM:225200,
  • 225200,
  • ectopia lentis et pupillae,
  • MESH:C563268
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents