Search Ontology:
Human Disease
ectopia lentis with ectopia of pupil
- Term ID
- DOID:0111648
- Synonyms
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- 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 the ADAMTSL4 gene on chromosome 1q21.2. (2)
- References
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- MESH:C563268
- MIM:225200
- SNOMEDCT_US_2023_03_01:419237004
- UMLS_CUI:C1644196
- Ontology
- Human Disease ( DOID:0111648 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models