microphthalmia, isolated, with coloboma 7

Rare Disease

MONDO:0013783

Also Known As

ABCB6 microphthalmia, isolated, with colobomamicrophthalmia, isolated, with coloboma 7microphthalmia, isolated, with coloboma caused by mutation in ABCB6microphthalmia, isolated, with coloboma type 7MCOPCB7

Definition

Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the ABCB6 gene.

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Associated Genes

ABCB6 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:614497 ↗

GARD

GARD:15811 ↗

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