Details of Disease | DrugMAP

General Information of Disease (ID: DISKMF8U)

Disease Name	Isolated microphthalmia 2
Synonyms	anophthalmia, clinical, isolated; microphthalmia, isolated 2; MCOP2; isolated microphthalmia type 2; VSX2 isolated microphthalmia; microphthalmia, isolated type 2; isolated microphthalmia caused by mutation in VSX2
Definition	Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene.
Disease Hierarchy	DISLGR9K: Isolated microphthalmia DISA55ZA: Isolated anophthalmia-microphthalmia syndrome DISKMF8U: Isolated microphthalmia 2
Disease Identifiers	MONDO ID MONDO_0012409 UMLS CUI C1864720 OMIM ID 610093 MedGen ID 351204

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VSX2	OTW2E47S	Definitive	Autosomal recessive	[1]
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References

1	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.