Details of Disease

General Information of Disease (ID: DISXYC5W)

Disease Name Isolated microphthalmia 3
Synonyms
microphthalmia, isolated 3; isolated microphthalmia 3; RAX isolated microphthalmia; microphthalmia, isolated type 3; MCOP3; rax isolated microphthalmia; isolated microphthalmia caused by mutation in rax; isolated microphthalmia type 3; isolated microphthalmia caused by mutation in RAX
Definition Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene.
Disease Hierarchy
DISLGR9K: Isolated microphthalmia
DISA55ZA: Isolated anophthalmia-microphthalmia syndrome
DISXYC5W: Isolated microphthalmia 3
Disease Identifiers
MONDO ID
MONDO_0012604
UMLS CUI
C5774181
OMIM ID
611038
MedGen ID
1823955

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
RAX OTJ3YCE7 Definitive Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Confirmation of RAX gene involvement in human anophthalmia. Clin Genet. 2008 Oct;74(4):392-5. doi: 10.1111/j.1399-0004.2008.01078.x. Epub 2008 Sep 9.