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DO Term : autosomal dominant isolated ectopia lentis 1 [DOID:0111150] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.

synonyms:
OMIM:129600,
129600,
UMLS_CUI:C1851286,
ECTOL1

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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