OBO ID: DOID:0111648
Term Name: ectopia lentis with ectopia of pupil Search Ontology:
Synonyms:
  • ectopia lentis et pupillae
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. (2)
References:
Ontology: Human Disease   (DOID:0111648)
OTHER ectopia lentis with ectopia of pupil PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ADAMTSL4 Ectopia lentis et pupillae 225200
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None