autosomal dominant isolated ectopia lentis 1 Disease Ontology Browser

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Disease Ontology Browser

autosomal dominant isolated ectopia lentis 1 (DOID:0111150)
Alliance: disease page
Synonyms: ECTOL1
Alt IDs: OMIM:129600, UMLS_CUI:C1851286
Definition: An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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