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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:

Referenced OMIM:
OMIM:604229 - ANTERIOR SEGMENT DYSGENESIS 5; ASGD5

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

Xenbase Genes : pitx2, pax6, cyp1b1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): corneal opacification and other ocular anomalies (is_a)


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Version: 4.14.0
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