optic disc anomalies with retinal and/or macular dystrophy

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Summary

Literature (0)

DOID:0080635 - optic disc anomalies with retinal and/or macular dystrophy

Disease Ontology Definition:A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23.

Synonyms:

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

: six6

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), microphthalmia (is_a)