Search Ontology:
Human Disease
autosomal dominant isolated ectopia lentis 1
- Term ID
- DOID:0111150
- Synonyms
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- ECTOL1
- Definition
- An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21. https://www.ncbi.nlm.nih.gov/pubmed/15054843
- References
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- MIM:129600
- UMLS_CUI:C1851286
- Ontology
- Human Disease ( DOID:0111150 )
- is a type of
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Genes Involved
Zebrafish Models