anterior segment dysgenesis 5

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Summary

Literature (0)

DOID:0080610 - anterior segment dysgenesis 5

Disease Ontology Definition:An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.

Synonyms:

In OMIM:

OMIM:604229 - ANTERIOR SEGMENT DYSGENESIS 5; ASGD5

OMIM:604229 - ANTERIOR SEGMENT DYSGENESIS 5; ASGD5

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pitx2, pax6, cyp1b1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Parent(s): corneal opacification and other ocular anomalies (is_a)