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General Information
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| Term |
ectopia lentis with ectopia of pupil |
ID (Ontology) |
DOID:0111648 (Human Disease) |
| 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. |
| Also Known As |
"ectopia lentis et pupillae" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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ectopia lentis with ectopia of pupil | 1 | for disease ribbon | ectopia lentis with ectopia of pupil | 1 | model of | ectopia lentis with ectopia of pupil | 1 |
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Relationships