Details of Disease | DrugMAP

General Information of Disease (ID: DISK9KYL)

Disease Name	Isolated microphthalmia 7
Synonyms	microphthalmia, isolated 7; isolated microphthalmia type 7; GDF3 isolated microphthalmia; MCOP7; microphthalmia, isolated type 7; isolated microphthalmia caused by mutation in GDF3
Definition	Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF3 gene.
Disease Hierarchy	DISLGR9K: Isolated microphthalmia DISA55ZA: Isolated anophthalmia-microphthalmia syndrome DISK9KYL: Isolated microphthalmia 7
Disease Identifiers	MONDO ID MONDO_0013377 UMLS CUI C3150969 OMIM ID 613704 MedGen ID 462319

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
GDF3	OTD3KGJK	Limited	Autosomal dominant	[1]
------------------------------------------------------------------------------------

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.