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Metadata
ID DOID:0080635
Name optic disc anomalies with retinal and/or macular dystrophy
Definition A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23.
https://www.ncbi.nlm.nih.gov/pubmed/24702266
Xrefs

OMIM:212550

Parent Relationships

is_a microphthalmia

is_a autosomal recessive disease

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